Metabolism

No Pathway Network information available for Metabolism

Pathways in the Metabolism SuperPath

#NameSourceGenes
1MetabolismReactome
(see all 2171) (see less)
2Metabolism of lipidsReactome
(see all 757) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOA3, COX10, COX14, COX16, COX20, COX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3, PET11710.82
2Mitochondrial complex i deficiency, nuclear type 1EnrichmentACAD9, FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, NDUFA1, NDUFA11, NDUFA13, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, SLC25A10, TIMMDC1, TMEM126B10.80
3Diamond-blackfan anemiaEnrichmentRPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS79.86
4Isolated complex iii deficiencyEnrichmentBCS1L, CYC1, LYRM7, MT-CYB, TTC19, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ8.76
5Gilbert syndromeEnrichmentSLCO1B1, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A96.99
6Glycogen storage diseaseEnrichmentAGL, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, PFKM, PYGM, SLC37A46.99
7Crigler-najjar syndrome, type iEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A96.24
8Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A96.24
9Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A96.24
10Crigler-najjar syndrome, type iiEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A96.24
11Leigh diseaseEnrichmentATP5PO, BCS1L, COX15, ECHS1, FOXRED1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFA13, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SDHA, SURF1, TPK15.60
12Bilirubin metabolic disorderEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A95.56
13Leigh syndrome, nuclearEnrichmentATP5PO, BCS1L, COX15, ECHS1, FOXRED1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFA13, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS4, NDUFS7, NDUFV1, SDHA, SURF1, TPK15.51
14Mitochondrial myopathy, infantile, transientEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND55.48
15Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOA3, COX10, COX4I1, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3, NDUFV1, PET100, SCO1, SURF1, TACO15.28
16Mitochondrial diseaseEnrichmentAGK, ATP5F1D, COQ8A, FOXRED1, MECR, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFA6, NDUFAF8, NDUFC2, NDUFS1, NDUFS4, OXA1L, PDHX, PYURF, RRM2B, SURF1, TK2, TMEM126B, TTC19, UQCRC25.22
17Isolated methylmalonic acidemiaEnrichmentACSF3, MCEE, MMAA, MMUT, MVK4.99
18Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND54.85
19Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentACAN, B3GALT6, B3GAT3, B4GALT7, CHST3, GLB14.78
20Methylmalonic acidemiaEnrichmentACSF3, MCEE, MMAA, MMAB, MMACHC, MMUT, MVK4.74
21Lipoid congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, STAR4.22
22Diamond-blackfan anemia 1EnrichmentRPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS74.18
23Leber optic atrophy and dystoniaEnrichmentMT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND63.98
24Multiple acyl-coa dehydrogenase deficiency, mild typeEnrichmentETFA, ETFB, ETFDH, FLAD1, SLC25A323.98
25Pulmonary disease, chronic obstructiveEnrichmentCYP2R1, CYP46A1, GC, HMOX1, HYKK, MGST1, MGST3, VDR3.59
26Isolated atp synthase deficiencyEnrichmentATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, MT-ATP6, MT-ATP83.46
27Leigh syndrome, mitochondrialEnrichmentMT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND63.32
28Hyperinsulinemic hypoglycemia, familial, 1EnrichmentABCC8, GCK, GLUD1, HADH, KCNJ113.26
29Mucopolysaccharidosis iiiEnrichmentGNS, HGSNAT, NAGLU, SGSH, SLC26A113.26
30Nonsyndromic genetic hyperinsulinismEnrichmentABCC8, GCK, GLUD1, HADH, KCNJ113.26
31Mitochondrial complex ii deficiency, nuclear type 1EnrichmentNDUFS8, SDHA, SDHAF1, SDHD3.18
32Glycogen storage disease iaEnrichmentASS1, G6PC1, GAA, SLC37A43.18
33Multiple acyl-coa dehydrogenase deficiencyEnrichmentETFA, ETFB, ETFDH, FLAD13.18
34Neural tube defects, folate-sensitiveEnrichmentMTHFD1, MTHFR, MTR, MTRR3.18
35Cardiomyopathy, infantile histiocytoidEnrichmentMT-ATP6, MT-ATP8, MT-CYB, NDUFB113.18
36Propionic acidemiaEnrichmentPAH, PCCA, PCCB, UQCRFS13.18
37Mitochondrial complex ii deficiencyEnrichmentSDHA, SDHAF1, SDHB, SDHD3.18
38Intermediate maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT, PPM1K3.18
39Intrahepatic cholestasis of pregnancyEnrichmentABCB11, ABCB4, NR1H43.18
40PorokeratosisEnrichmentFDPS, MVD, MVK3.18
41Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN, SDHB, SDHC, SDHD3.04
42Lactic acidosisEnrichmentATP5F1A, CHAT, DLD, KARS1, NDUFA13, NDUFS4, UQCRFS13.00
43Optic nerve diseaseEnrichmentKARS1, MT-ATP6, MT-ATP8, MT-ND1, SRD5A3, TYR2.71
44Congenital nervous system abnormalityEnrichmentABCD1, ARSA, ARV1, ASAH1, CPT2, CREBBP, CYP2U1, GALC, HSD17B4, PLA2G6, PPT1, PTEN, SLC22A5, SRD5A32.65
45Nervous system diseaseEnrichmentABCD1, ARSA, ARV1, ASAH1, CPT2, CREBBP, CYP2U1, GALC, HSD17B4, PLA2G6, PPT1, PTEN, SLC22A5, SRD5A32.65
46Spastic ataxiaEnrichmentARSA, CYP7B1, ELOVL4, FA2H, GALC, GLB1, PLA2G6, PNPLA6, PPT12.61
47Charcot-marie-tooth disease type 4EnrichmentFIG4, MTMR2, PLD3, SBF1, SBF22.60
48Cox deficiency, infantile mitochondrial myopathyEnrichmentCOA5, COX15, SCO1, SCO22.54
49Phosphorylase kinase deficiencyEnrichmentPHKA1, PHKA2, PHKB, PHKG22.54
50Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentETFA, ETFB, ETFDH, FLAD12.54
51Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyEnrichmentCYP11A1, CYP17A1, CYP21A22.52
52Metachromatic leukodystrophyEnrichmentARSA, ARSB, PSAP2.52
5321-hydroxylase-deficient congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP17A1, CYP21A22.52
54Blood group, p1pk systemEnrichmentA4GALT, B3GALNT12.51
55Porokeratosis 1, multiple typesEnrichmentMVK, PMVK2.51
56Alpha-methylacetoacetic aciduriaEnrichmentACAT1, ACAT22.51
57Yunis-varon syndromeEnrichmentFIG4, VAC142.51
58Cholestasis, progressive familial intrahepatic, 3EnrichmentABCB11, ABCB42.51
59Bombay phenotypeEnrichmentFUT1, FUT22.51
60Cholestasis, intrahepatic, of pregnancy 3EnrichmentABCB11, ABCB42.51
61Congenital bile acid synthesis defectEnrichmentAKR1D1, HSD3B72.51
62Gm2-gangliosidosis, ab variantEnrichmentGM2A, HEXA2.51
63Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B2.51
64Intrahepatic cholestasisEnrichmentABCB11, ABCB42.51
65Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST, FH, MDH2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A112.50
66Leber hereditary optic neuropathy, modifier ofEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFS22.45
67Mitochondrial complex iii deficiency, nuclear type 1EnrichmentBCS1L, LYRM7, NDUFS72.39
68Maple syrup urine disease, type iaEnrichmentBCKDHA, BCKDHB, DBT2.39
69Methylmalonic aciduria due to methylmalonyl-coa mutase deficiencyEnrichmentMAN2B1, MMACHC, MMUT2.39
70Linear skin defects with multiple congenital anomalies 1EnrichmentCOX7B, HCCS, NDUFB112.39
71Carney triadEnrichmentSDHA, SDHB, SDHC2.39
72Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA, PIK3R12.39
73Coumarin resistanceEnrichmentCYP2A6, CYP2C9, VKORC12.39
74Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB3GAT3, B4GALT7, CHST32.39
75ParagangliomaEnrichmentSDHA, SDHB, SDHD2.39
76Mitochondrial complex v deficiency, nuclear type 5EnrichmentATP5F1D, MT-ND5, NDUFV12.39
77Keratosis follicularis spinulosa decalvansEnrichmentLRP1, MBTPS2, SAT12.39
78Larsen-like syndrome b3gat3 typeEnrichmentB3GAT3, B4GALT7, CHST32.39
79HomocystinuriaEnrichmentCBS, MMACHC, MTR2.39
80Anastomosing haemangiomaEnrichmentGNA11, GNA14, GNAQ2.39
81Intermittent maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT2.39
82Classic maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT2.39
83Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFS12.34
84Mitochondrial complex v deficiency, mitochondrial type 1EnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND52.31
85Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND52.31
86Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND52.31
87Camptodactyly of fingersEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND52.31
88Progressive familial intrahepatic cholestasisEnrichmentABCB11, ABCB4, GLB12.29
89Hyperphenylalaninemia, bh4-deficient, aEnrichmentGCH1, PAH, PTS, QDPR2.13
90Pseudoxanthoma elasticumEnrichmentABCC2, ENPP1, XYLT1, XYLT22.13
91Familial thyroid dyshormonogenesisEnrichmentDUOX2, IYD, SLC5A5, TPO2.13
92DiarrheaEnrichmentDGAT1, NMNAT1, SGSH, SLC51B2.13
93AlbinismEnrichmentDCT, OCA2, TYR, TYRP12.13
94Hereditary spastic paraplegiaEnrichmentCYP2U1, CYP7B1, DDHD1, DDHD2, FA2H, GBA2, PNPLA62.10
95Autosomal recessive congenital ichthyosisEnrichmentALOX12B, ALOXE3, CERS3, CYP4F222.10
96LeukodystrophyEnrichmentARSA, DEGS1, ERCC2, GALC, HEXA, KARS1, PYCR2, RARS12.06
97Hyperbilirubinemia, rotor typeEnrichmentSLCO1B1, SLCO1B32.05
98D-bifunctional protein deficiencyEnrichmentEHHADH, HSD17B42.05
99Multiple sulfatase deficiencyEnrichmentSUMF1, SUMF22.05
100Ifap syndrome 1, with or without bresheck syndromeEnrichmentMBTPS2, SREBF12.05
101Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentCYP27B1, CYP2R12.05
102Long-chain 3-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHADHA, HMGCL2.05
10346,xy sex reversal 8EnrichmentAKR1C2, AKR1C42.05
104Mitochondrial trifunctional protein deficiency 1EnrichmentHADHA, HADHB2.05
105Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R12.05
106Hypoalphalipoproteinemia, primary, 2EnrichmentABCA1, APOA12.05
107Tay-sachs diseaseEnrichmentGM2A, HEXA2.05
108Mitochondrial trifunctional protein deficiencyEnrichmentHADHA, HADHB2.05
109Immunodeficiency 14EnrichmentPIK3CD, PIK3R12.05
110Self-improving collodion babyEnrichmentALOX12B, ALOXE32.05
111Linear porokeratosisEnrichmentMVD, PMVK2.05
112Pheochromocytoma/paraganglioma syndrome 1EnrichmentSDHA, SDHB, SDHD1.84
113Neonatal diabetes mellitusEnrichmentABCC8, INS, KCNJ111.84
114Hereditary recurrent myoglobinuriaEnrichmentLPIN1, MT-CO1, MT-CO31.84
115Congenital nad deficiency disorderEnrichmentHAAO, KYNU, NADSYN11.84
116Coronary artery anomalyEnrichmentAPOC3, HS3ST1, LPL1.84
117Primary fanconi renotubular syndromeEnrichmentEHHADH, GATM, NDUFAF61.84
118Atypical glycine encephalopathyEnrichmentAMT, GCSH, GLDC1.84
119Familial infantile bilateral striatal necrosisEnrichmentMT-ATP6, NUP54, NUP621.84
120Oculocutaneous albinismEnrichmentOCA2, SLC45A2, TYR, TYRP11.82
121Neurodegeneration with brain iron accumulationEnrichmentCRAT, FA2H, PLA2G61.81
122Congenital nonbullous ichthyosiform erythrodermaEnrichmentALOX12B, ALOXE3, CERS31.81
123Krabbe diseaseEnrichmentGALC, PSAP1.76
124Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R21.76
125Hypoalphalipoproteinemia, primary, 1EnrichmentABCA1, APOA11.76
126Congenital generalized lipodystrophyEnrichmentAGPAT2, PPARG1.76
127Rhizomelic chondrodysplasia punctataEnrichmentAGPS, GNPAT1.76
128IchthyosisEnrichmentALOX12B, ALOXE3, CERS31.69
129Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D2, GOT2, ITPA, KCNB1, KCNC2, SEC24C, SLC25A22, SNAP25, ST3GAL3, STXBP11.67
130Familial hypercholesterolemiaEnrichmentAPOA2, APOB, APOE, EPHX2, LDLR, LDLRAP11.64
131Fanconi renotubular syndrome 1EnrichmentGATM, RRM2B1.59
132Exostoses, multiple, type iEnrichmentEXT1, EXT21.59
133Nephrolithiasis, calcium oxalate, 1EnrichmentIDUA, SLC26A11.59
134Fanconi-bickel syndromeEnrichmentLDHA, SLC2A21.59
135Citrullinemia, classicEnrichmentASS1, SLC25A131.59
136Hyperlipoproteinemia, type iEnrichmentGPIHBP1, LPL1.59
137ArgininemiaEnrichmentARG1, MED231.59
138Methylmalonic aciduria, cblb typeEnrichmentMMAB, MVK1.59
139L-2-hydroxyglutaric aciduriaEnrichmentDMAC2L, L2HGDH1.59
140Dihydrolipoamide dehydrogenase deficiencyEnrichmentBCKDHB, DLD1.59
141Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentABCD1, BGN1.59
142Brown-vialetto-van laere syndrome 1EnrichmentSLC52A2, SLC52A31.59
143Cardiomyopathy, infantile hypertrophicEnrichmentMT-ATP6, MT-ATP81.59
144Striatonigral degeneration, infantileEnrichmentIL4I1, NUP621.59
145Schneckenbecken dysplasiaEnrichmentINPPL1, SLC35D11.59
146Xanthinuria, type iEnrichmentSRD5A2, XDH1.59
147Dent disease 2EnrichmentINPP5B, OCRL1.59
148Hurler-scheie syndromeEnrichmentIDUA, SLC26A11.59
149Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A1.59
150Porphyria, acute intermittentEnrichmentACO2, HMBS1.59
151Segawa syndrome, autosomal recessiveEnrichmentTH, TSPOAP11.59
152Diabetes mellitus, permanent neonatal, 1EnrichmentGCK, KCNJ111.59
153Coenzyme q10 deficiency, primary, 6EnrichmentCOQ6, ENTPD51.59
154Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentCYB5R3, DLD1.59
155Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPAH, PI4KA1.59
156Scheie syndromeEnrichmentIDUA, SLC26A11.59
157Mitochondrial complex iv deficiency, nuclear type 6EnrichmentCOX15, SURF11.59
158Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentGPHN, RDH111.59
159Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB3GALT6, B4GALT71.59
160Spermatogenic failure 17EnrichmentPIK3C2G, PLCZ11.59
161Amed syndrome, digenicEnrichmentADH5, ALDH21.59
162Developmental and epileptic encephalopathy 87EnrichmentAMD1, CDK191.59
163Spastic paraplegia 5a, autosomal recessiveEnrichmentALDH18A1, CYP7B11.59
164HypersulfaturiaEnrichmentIDUA, SLC26A11.59
165Alzheimer disease mitochondrialEnrichmentMT-ND1, MT-ND21.59
166Usher syndrome, type ivEnrichmentARSG, PRKAR1A1.59
167Hyperlipoproteinemia, type iiiEnrichmentAPOE, LDLR1.59
1683-methylcrotonyl-coa carboxylase deficiencyEnrichmentMCCC1, MCCC21.59
169Acute porphyriaEnrichmentACO2, HMBS1.59
170Familial lipoprotein lipase deficiencyEnrichmentGPIHBP1, LPL1.59
171Calcium oxalate nephrolithiasisEnrichmentIDUA, SLC26A11.59
172Disorders of intracellular cobalamin metabolismEnrichmentMMACHC, MTR1.59
173Multiple mitochondrial dysfunctions syndromeEnrichmentISCA1, ISCA21.59
174Molybdenum cofactor deficiencyEnrichmentMOCS1, MOCS21.59
175CitrullinemiaEnrichmentASS1, SLC25A131.59
176Glycogen storage disease due to liver phosphorylase kinase deficiencyEnrichmentPHKA2, PHKG21.59
177Adenosine monophosphate deaminase deficiencyEnrichmentAMPD1, AMPD31.59
178D-2-hydroxyglutaric aciduriaEnrichmentD2HGDH, IDH21.59
179Primary hyperoxaluriaEnrichmentAGXT, GRHPR1.59
180Acute necrotizing encephalopathy of childhoodEnrichmentCPT2, RANBP21.59
181Hereditary methemoglobinemiaEnrichmentCYB5A, CYB5R31.59
182Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ1.59
183Periodic paralysis with later-onset distal motor neuropathyEnrichmentMT-ATP6, MT-ATP81.59
184Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentABCD4, LMBRD1, MMACHC, MMADHC1.57
185Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM3, TECRL1.57
186Permanent neonatal diabetes mellitusEnrichmentABCC8, GCK, INS, KCNJ111.57
187Ichthyosis, congenital, autosomal recessive 2EnrichmentALOX12B, ALOXE31.56
188Pseudovaginal perineoscrotal hypospadiasEnrichmentFIG4, SRD5A21.56
189Fabry diseaseEnrichmentGALC, GLA1.56
190HemimegalencephalyEnrichmentPIK3CA, PTEN1.56
191Capillary malformations, congenitalEnrichmentGNA11, GNAQ, PIK3CA1.50
192Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR, LPL1.50
193Albinism, oculocutaneous, type iiEnrichmentATP5ME, OCA2, TYRP11.50
194Paraganglioma and gastric stromal sarcomaEnrichmentSDHB, SDHC, SDHD1.50
195HypoglycemiaEnrichmentABCC8, G6PC1, KCNJ111.50
196Hyperaldosteronism, familial, type iEnrichmentCYP11B1, CYP11B21.40
197Osteogenesis imperfecta, type iEnrichmentMBTPS2, SEC24D1.40
198Cowden syndrome 1EnrichmentPIK3CA, PTEN1.40
199Cholestasis, progressive familial intrahepatic, 1EnrichmentABCB4, NR1H41.40
200Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3001.40
201Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3001.40
202Familial hypercholanemiaEnrichmentBAAT, SLC10A11.40
203Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentFIG4, PON1, PON2, PON3, PPARGC1A, SPTLC1, VAPB1.38
204Coronary heart disease 5EnrichmentABCA1, APOB, G6PD, LDLR1.38
205Hypotrichosis simplexEnrichmentERCC2, LIPH, LSS, RPL211.38
206Hereditary sensory and autonomic neuropathy type 1EnrichmentSPTLC1, SPTLC21.27
207Porokeratosis 3, multiple typesEnrichmentMVK1.25
208MacrodactylyEnrichmentPIK3CA1.25
209Corneal dystrophy, fleckEnrichmentPIKFYVE1.25
210Lenz-majewski hyperostotic dwarfismEnrichmentPTDSS11.25
211Apnea, central sleepEnrichmentCHAT1.25
212Neuropathy, hereditary sensory and autonomic, type iaEnrichmentSPTLC11.25
213Bile acid synthesis defect, congenital, 2EnrichmentAKR1D11.25
214Laurence-moon syndromeEnrichmentPNPLA61.25
215Mitochondrial myopathy with lactic acidosisEnrichmentPNPLA81.25
216Rhizomelic chondrodysplasia punctata, type 2EnrichmentGNPAT1.25
2173-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHADH1.25
218Olmsted syndrome, x-linkedEnrichmentMBTPS21.25
219Methylmalonyl-coa epimerase deficiencyEnrichmentMCEE1.25
220Carnitine-acylcarnitine translocase deficiencyEnrichmentSLC25A201.25
221Metachromatic leukodystrophy due to saposin b deficiencyEnrichmentPSAP1.25
222Neuraminidase deficiencyEnrichmentNEU11.25
223Apparent mineralocorticoid excessEnrichmentHSD11B21.25
224Cone-rod dystrophy 5EnrichmentPITPNM31.25
225Vacterl association with hydrocephalusEnrichmentPTEN1.25
226Ck syndromeEnrichmentNSDHL1.25
227Osteogenesis imperfecta, type xixEnrichmentMBTPS21.25
228Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsEnrichmentNSDHL1.25
229Oliver-mcfarlane syndromeEnrichmentPNPLA61.25
230Keratosis follicularis spinulosa decalvans, x-linkedEnrichmentMBTPS21.25
231Drug metabolism, poor, cyp2c19-relatedEnrichmentCYP2C191.25
232Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.25
233Epilepsy, familial adult myoclonic, 2EnrichmentSTARD71.25
234DesmosterolosisEnrichmentDHCR241.25
235Corticosteroid-binding globulin deficiencyEnrichmentSERPINA61.25
236Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.25
237Intellectual developmental disorder, x-linked 63EnrichmentACSL41.25
238Spastic paraplegia 26, autosomal recessiveEnrichmentB4GALNT11.25
239Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.25
240Coronary heart disease 7EnrichmentCD361.25
241Polymicrogyria, bilateral temporooccipitalEnrichmentFIG41.25
242Carnitine acetyltransferase deficiencyEnrichmentCRAT1.25
243Craniolenticulosutural dysplasiaEnrichmentSEC23A1.25
244Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL31.25
245Polysubstance abuseEnrichmentFAAH1.25
246Megalencephaly, autosomal dominantEnrichmentPIK3CA1.25
247Keloid formationEnrichmentASAH11.25
248Intellectual developmental disorder, autosomal recessive 18, with or without epilepsyEnrichmentMED231.25
249Digital clubbing, isolated congenitalEnrichmentHPGD1.25
250Mucoepithelial dysplasia, hereditaryEnrichmentSREBF11.25
251Yt blood group antigenEnrichmentACHE1.25
252Spinocerebellar ataxia 34EnrichmentELOVL41.25
253Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG21.25
254Cowden syndrome 5EnrichmentPIK3CA1.25
255Cardiac valvular dysplasia 1EnrichmentPLD11.25
256Donnai-barrow syndromeEnrichmentLRP21.25
257Boucher-neuhauser syndromeEnrichmentPNPLA61.25
258GlutathionuriaEnrichmentGGT11.25
259Ghosal hematodiaphyseal dysplasiaEnrichmentTBXAS11.25
260Fleck retina, familial benignEnrichmentPLA2G51.25
261Succinyl-coa:3-oxoacid-coa transferase deficiencyEnrichmentOXCT11.25
262Hypoadrenocorticism, familialEnrichmentABCD11.25
263Methylmalonic aciduria, cbla typeEnrichmentMMAA1.25
2643-hydroxy-3-methylglutaryl-coa lyase deficiencyEnrichmentHMGCL1.25
265Spondylometaphyseal dysplasia, sedaghatian typeEnrichmentGPX41.25
266Ichthyosis, congenital, autosomal recessive 9EnrichmentCERS31.25
267Ventricular tachycardia, catecholaminergic polymorphic, 3EnrichmentTECRL1.25
268Lipodystrophy, familial partial, type 5EnrichmentCIDEC1.25
269Palmoplantar keratoderma and congenital alopecia 2EnrichmentLSS1.25
270Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or completeEnrichmentCYP11A11.25
271Hypertriglyceridemia, transient infantileEnrichmentGPD11.25
272Intellectual developmental disorder, autosomal recessive 14EnrichmentTECR1.25
273Bile acid synthesis defect, congenital, 3EnrichmentCYP7B11.25
274Hyperthyroxinemia, familial dysalbuminemicEnrichmentALB1.25
275Greenberg dysplasiaEnrichmentLBR1.25
276Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.25
277Peroxisomal fatty acyl-coa reductase 1 disorderEnrichmentFAR11.25
278Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.25
279Pulmonary hypertension, primary, 3EnrichmentCAV11.25
280Cole-carpenter syndrome 2EnrichmentSEC24D1.25
281Developmental and epileptic encephalopathy 53EnrichmentSYNJ11.25
282Pelger-huet anomalyEnrichmentLBR1.25
283Spinal muscular atrophy, late-onset, finkel typeEnrichmentVAPB1.25
284Leukotriene c4 synthase deficiencyEnrichmentLTC4S1.25
285Acyl-coa dehydrogenase, medium-chain, deficiency ofEnrichmentACADM1.25
286Cerebrotendinous xanthomatosisEnrichmentCYP27A11.25
287Retinitis pigmentosa 85EnrichmentAHR1.25
288Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaEnrichmentMED271.25
289Gallbladder disease 1EnrichmentABCB41.25
290Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomaliesEnrichmentSMPD41.25
291Siddiqi syndromeEnrichmentFITM21.25
292Cerebral cavernous malformations 4EnrichmentPIK3CA1.25
293Fanconi renotubular syndrome 3EnrichmentEHHADH1.25
294Retinal dystrophy with leukodystrophyEnrichmentACBD51.25
295Peroxisomal acyl-coa oxidase deficiencyEnrichmentACOX11.25
296Bile acid synthesis defect, congenital, 6EnrichmentACOX21.25
297Congenital myopathy 11EnrichmentHACD11.25
298Rhizomelic skeletal dysplasia with or without pelger-huet anomalyEnrichmentLBR1.25
299Drug metabolism, altered, cyp2c8-relatedEnrichmentCYP2C81.25
300Impaired intellectual development and distinctive facial features with or without cardiac defectsEnrichmentMED13L1.25
301Dystonia 22, adult-onsetEnrichmentTSPOAP11.25
302Optic atrophy 15EnrichmentMCAT1.25
303Optic atrophy 16EnrichmentMECR1.25
304Chondrodysplasia punctata 2, x-linked dominantEnrichmentEBP1.25
305Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.25
306Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizuresEnrichmentCHKA1.25
307Leukodystrophy, hypomyelinating, 18EnrichmentDEGS11.25
308Rhizomelic chondrodysplasia punctata, type 3EnrichmentAGPS1.25
309Diarrhea 13EnrichmentACSL51.25
310Proximal myopathy with focal depletion of mitochondriaEnrichmentCHKB1.25
311Short syndromeEnrichmentPIK3R11.25
312Mitchell syndromeEnrichmentACOX11.25
313Deafness, autosomal dominant 77EnrichmentABCC11.25
314Amyotrophic lateral sclerosis 27, juvenileEnrichmentSPTLC11.25
315Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA1.25
316Charcot-marie-tooth disease type 4b1EnrichmentMTMR21.25
317Chondrodysplasia punctata, brachytelephalangic, autosomalEnrichmentARSL1.25
318Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT21.25
319Cataract 38EnrichmentAGK1.25
320Sandhoff diseaseEnrichmentHEXB1.25
321Oculoskeletodental syndromeEnrichmentPIK3C2A1.25
322Mend syndromeEnrichmentEBP1.25
323Foveal hypoplasia 3EnrichmentAHR1.25
324Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speechEnrichmentINPP4A1.25
325Ifap syndrome 2EnrichmentSREBF11.25
326Cardioacrofacial dysplasia 2EnrichmentPRKACB1.25
327Chondrodysplasia punctata 1, x-linked recessiveEnrichmentARSL1.25
328Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.25
329Lowe oculocerebrorenal syndromeEnrichmentOCRL1.25
330Brugada syndrome 2EnrichmentGPD1L1.25
331Charcot-marie-tooth disease, demyelinating, type 4b1EnrichmentMTMR21.25
332Parkinson disease 24, autosomal dominantEnrichmentPSAP1.25
333Spinocerebellar ataxia 38EnrichmentELOVL51.25
334Bile acid malabsorption, primary, 1EnrichmentSLC10A21.25
335Amyotrophic lateral sclerosis 11EnrichmentFIG41.25
336Neuropathy, hereditary sensory and autonomic, type icEnrichmentSPTLC21.25
337Ichthyosis, congenital, autosomal recessive 5EnrichmentCYP4F221.25
338Papillary tumor of the pineal regionEnrichmentPTEN1.25
339Lipodystrophy, familial partial, type 7EnrichmentCAV11.25
340Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.25
341Familial apolipoprotein a5 deficiencyEnrichmentAPOA51.25
342Amyotrophic lateral sclerosis 8EnrichmentVAPB1.25
343Hypercholanemia, familial, 2EnrichmentSLC10A11.25
344Charcot-marie-tooth disease, demyelinating, type 4jEnrichmentFIG41.25
345Intellectual developmental disorder, autosomal recessive 57EnrichmentMBOAT71.25
346Hemifacial myohyperplasiaEnrichmentPIK3CA1.25
347Kahrizi syndromeEnrichmentSRD5A31.25
348Leukodystrophy, progressive, early childhood-onsetEnrichmentACER31.25
349Hypotrichosis 7EnrichmentLIPH1.25
350Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.25
351Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.25
352Bile acid synthesis defect, congenital, 1EnrichmentHSD3B71.25
353Platelet glycoprotein iv deficiencyEnrichmentCD361.25
354Drug metabolism, poor, cyp2d6-relatedEnrichmentCYP2D61.25
355Gaucher disease, atypical, due to saposin c deficiencyEnrichmentPSAP1.25
356Spastic paraplegia 28, autosomal recessiveEnrichmentDDHD11.25
357Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndromeEnrichmentINPP5E1.25
358Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.25
359Mevalonic aciduriaEnrichmentMVK1.25
360Majeed syndromeEnrichmentLPIN21.25
361Ichthyosis, spastic quadriplegia, and impaired intellectual developmentEnrichmentELOVL41.25
362Glutathione peroxidase deficiencyEnrichmentGPX11.25
363Fatty liver disease, protection fromEnrichmentHSD17B131.25
364Plasma triglyceride level quantitative trait locusEnrichmentANGPTL41.25
365Spastic paraplegia 90a, autosomal dominantEnrichmentSPTSSA1.25
366Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.25
367Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.25
368Blood group, globoside systemEnrichmentB3GALNT11.25
369Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndromeEnrichmentMBTPS11.25
370Deafness, autosomal dominant 79EnrichmentSCD51.25
371Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyEnrichmentMORC21.25
372Porokeratosis 7, multiple typesEnrichmentMVD1.25
373Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.25
374Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.25
375Webb-dattani syndromeEnrichmentARNT21.25
376Spastic paraplegia 54, autosomal recessiveEnrichmentDDHD21.25
377Spastic paraplegia 39, autosomal recessiveEnrichmentPNPLA61.25
378Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.25
379Leukoencephalopathy with dystonia and motor neuropathyEnrichmentSCP21.25
380EncephalitisEnrichmentABCD11.25
381Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG1.25
382Reynolds syndromeEnrichmentLBR1.25
383Krabbe disease, atypical, due to saposin a deficiencyEnrichmentPSAP1.25
384Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H41.25
385Glioma susceptibility 2EnrichmentPTEN1.25
386Basel-vanagaite-smirin-yosef syndromeEnrichmentMED251.25
387Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalitiesEnrichmentMFSD2A1.25
388Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesEnrichmentMECR1.25
389Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.25
390Acetyl-coa acetyltransferase-2 deficiencyEnrichmentACAT21.25
391Muscular dystrophy, congenital, with cataracts and impaired intellectual developmentEnrichmentINPP5K1.25
392Blood group, junior systemEnrichmentABCG21.25
393Butyrylcholinesterase deficiencyEnrichmentBCHE1.25
394Spastic paraplegia 81, autosomal recessiveEnrichmentSELENOI1.25
395Cardioacrofacial dysplasia 1EnrichmentPRKACA1.25
396Acid sphingomyelinase deficiencyEnrichmentSMPD11.25
397Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.25
398Deafness, autosomal dominant 67EnrichmentOSBPL21.25
39946,xy disorder of sex development due to 5-alpha-reductase 2 deficiencyEnrichmentSRD5A21.25
400Charcot-marie-tooth disease, axonal, type 2zEnrichmentMORC21.25
401Reni syndromeEnrichmentSGPL11.25
402Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.25
403Congenital analbuminemiaEnrichmentALB1.25
404Vitamin d-dependent rickets, type 3EnrichmentCYP3A41.25
405Congenital cataract-severe neonatal hepatopathy-global developmental delay syndromeEnrichmentCYP51A11.25
406Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.25
407Mitochondrial trifunctional protein deficiency 2EnrichmentHADHB1.25
408Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalitiesEnrichmentMED111.25
409Neurodegeneration with brain iron accumulation 8EnrichmentCRAT1.25
410Menke-hennekam syndrome 1EnrichmentCREBBP1.25
411Ifap syndromeEnrichmentMBTPS21.25
412Hypotrichosis 14EnrichmentLSS1.25
413Guillouet-gordon syndromeEnrichmentMED161.25
414Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineEnrichmentSLC44A11.25
415Erythrokeratodermia variabilis et progressiva 4EnrichmentKDSR1.25
416Deafness, autosomal dominant 72EnrichmentSLC44A41.25
417Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndromeEnrichmentGGPS11.25
418Spastic paraplegia 84, autosomal recessiveEnrichmentPI4KA1.25
419Mucopolysaccharidosis, type xEnrichmentARSK1.25
420Cholestasis, progressive familial intrahepatic, 6EnrichmentSLC51A1.25
421Hypercholanemia, familial 3EnrichmentBAAT1.25
422Charcot-marie-tooth disease type 4jEnrichmentFIG41.25
423Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.25
424Cataracts, spastic paraparesis, and speech delayEnrichmentFAR11.25
425Deafness, autosomal recessive 115EnrichmentSPNS21.25
426Microcephaly, congenital cataract, and psoriasiform dermatitisEnrichmentMSMO11.25
427Prolactin-producing pituitary gland adenomaEnrichmentLRP21.25
428AnalbuminemiaEnrichmentALB1.25
429Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyEnrichmentCYP7A11.25
430X-linked cerebral adrenoleukodystrophyEnrichmentABCD11.25
431Asah1-related disordersEnrichmentASAH11.25
432Combined oxidative phosphorylation deficiency 57EnrichmentCRLS11.25
433Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.25
434Low density lipoprotein cholesterol level quantitative trait locus 3EnrichmentHMGCR1.25
435Deafness, autosomal dominant 87EnrichmentPI4KB1.25
436Muscular dystrophy, limb-girdle, autosomal recessive 28EnrichmentHMGCR1.25
437Acute fatty liver of pregnancyEnrichmentHADHA1.25
438Aspiration pneumoniaEnrichmentCHAT1.25
439Lipodystrophy, familial partial, type 9EnrichmentPLAAT31.25
440Neurodevelopmental disorder with progressive movement abnormalitiesEnrichmentACBD61.25
441Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.25
442Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutationEnrichmentDGAT21.25
443RicketsEnrichmentVDR1.25
444HypospadiasEnrichmentPIK3CA1.25
445Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.25
446Autosomal dominant adult-onset proximal spinal muscular atrophyEnrichmentVAPB1.25
447Spastic paraplegia 90b, autosomal recessiveEnrichmentSPTSSA1.25
448X-linked chondrodysplasia punctata 1EnrichmentARSL1.25
449Chromosome 15q24 deletion syndromeEnrichmentSIN3A1.25
450Syndromic recessive x-linked ichthyosisEnrichmentSTS1.25
451Systemic lupus erythematosus 18EnrichmentPLD41.25
452Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiencyEnrichmentCYP11A11.25
453Autosomal recessive cerebellar ataxia with late-onset spasticityEnrichmentGBA21.25
454Rare venous malformationEnrichmentPIK3CA1.25
455Vitamin b12-responsive methylmalonic acidemiaEnrichmentMMAA1.25
456Diaphragmatic eventrationEnrichmentPIK3CA1.25
457AtherosclerosisEnrichmentALOX51.25
458Glb1-related disordersEnrichmentGLB11.25
459Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.25
460Non-classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR1.25
461Medium-chain acyl-coenzyme a dehydrogenase deficiencyEnrichmentACADM1.25
462Menke-hennekam syndromeEnrichmentCREBBP1.25
463Alkaline ceramidase 3 deficiencyEnrichmentACER31.25
464Neurodevelopmental disorder with ataxia and brain abnormalitiesEnrichmentPTPMT11.25
465Fatty acyl-coa reductase 1 deficiencyEnrichmentFAR11.25
466Rare combined vascular malformationEnrichmentPIK3CA1.25
467Gastrointestinal defects and immunodeficiency syndrome 2EnrichmentPI4KA1.25
468Bresek syndromeEnrichmentMBTPS21.25
469Cavernous lymphangiomaEnrichmentPIK3CA1.25
470Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA21.25
471Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.25
472Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.25
473Nsdhl-related disordersEnrichmentNSDHL1.25
474Oculocerebrodental syndromeEnrichmentPIK3C2A1.25
475Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeEnrichmentFDXR1.25
476Qualitative or quantitative defects of myotubularinEnrichmentMTM11.25
477Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.25
478AdrenomyeloneuropathyEnrichmentABCD11.25
479Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA1.25
480Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.25
481Alpi-related inflammatory bowel diseaseEnrichmentALPI1.25
482Aapoaii amyloidosisEnrichmentAPOA21.25
483St3gal3-cdgEnrichmentST3GAL31.25
484Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.25
485Chronic primary adrenal insufficiencyEnrichmentABCD11.25
486Eccrine angiomatous hamartomaEnrichmentPIK3CA1.25
487Familial benign flecked retinaEnrichmentPLA2G51.25
488Autosomal recessive spastic paraplegia type 66EnrichmentARSI1.25
489Macrodactyly of toeEnrichmentPIK3CA1.25
490Classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR1.25
491HypoalphalipoproteinemiaEnrichmentABCA11.25
492Pi4ka-related disorderEnrichmentPI4KA1.25
493Melanoma, uvealEnrichmentGNA11, GNAQ, PLCB41.25
494Alcohol dependenceEnrichmentADH1B, ADH1C, ALDH21.25
495Mucopolysaccharidosis, type iiiaEnrichmentIDS, SGSH, SLC26A111.25
496HypertrichosisEnrichmentCREBBP, KCNJ11, NAGLU1.25
497Glycine encephalopathyEnrichmentAMT, GCSH, GLDC1.25
498Familial colorectal cancerEnrichmentMT-CO1, MT-CO2, MT-CYB, PLA2G2A1.21
499HypertelorismEnrichmentMED13L, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, PIK3CA, RAB5IF1.20
500Pheochromocytoma/paraganglioma syndrome 4EnrichmentSDHB, SDHD1.16
501Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR1.16
502Dystonia, dopa-responsiveEnrichmentGCH1, TH1.16
503Mannosidosis, beta a, lysosomalEnrichmentFAH, MANBA1.16
504Glycogen storage disease ivEnrichmentGAA, GBE11.16
505Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR, MTRR1.16
506Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathyEnrichmentFDX2, MT-ND31.16
507Molybdenum cofactor deficiency, type aEnrichmentMOCS1, MOCS21.16
508Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyEnrichmentCYB5A, CYP17A11.16
509Hyperphenylalaninemia, bh4-deficient, bEnrichmentGCH1, PTS1.16
510Sengers syndromeEnrichmentAGK, TKFC1.16
511Pompe disease, infantile-onsetEnrichmentGAA, PIK3CA1.16
512Uvula, bifidEnrichmentARF3, UBB1.16
513Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC41.16
514Mucopolysaccharidosis, type viEnrichmentARSB, GUSB1.16
515Glycogen storage disease ixdEnrichmentPHKA1, PHKG11.16
516Citrin deficiency, adolescent or adult onsetEnrichmentASS1, SLC25A131.16
517Myopathy, centronuclear, x-linkedEnrichmentDNM2, MTM11.16
518Mitochondrial complex iv deficiency, nuclear type 2EnrichmentSCO2, SDHB1.16
519Hypercholesterolemia, familial, 4EnrichmentLDLR, LDLRAP11.16
520Diamond-blackfan anemia 15 with mandibulofacial dysostosisEnrichmentRPS26, RPS281.16
521Mitochondrial complex iii deficiency, nuclear type 2EnrichmentSDHD, TTC191.16
522Hurler syndromeEnrichmentIDUA, SLC26A11.16
523Coenzyme q10 deficiency, primary, 1EnrichmentCOQ2, COQ8A1.16
524Microcephaly, postnatal progressive, with seizures and brain atrophyEnrichmentEEFSEC, MED171.16
525Brown-vialetto-van laere syndrome 2EnrichmentGNMT, SLC52A21.16
526Coenzyme q10 deficiency, primary, 5EnrichmentCOQ7, COQ91.16
527Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C1.16
528Hyperinsulinemic hypoglycemiaEnrichmentABCC8, HADH1.16
529Xanthinuria, type iiEnrichmentMOCOS, XDH1.16
530KyphosisEnrichmentARF3, SEPSECS1.16
531Combined oxidative phosphorylation deficiency 19EnrichmentLYRM4, NFS11.16
532Mucopolysaccharidosis-plus syndromeEnrichmentIDUA, SLC26A11.16
533Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentGCH1, IMPDH21.16
534Hemolytic disease of fetus and newborn, rh-inducedEnrichmentRHCE, RHD1.16
535Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK1, PCK21.16
536Musculocontractural ehlers-danlos syndromeEnrichmentCHST14, DSE1.16
537Hyperphenylalaninemia due to tetrahydrobiopterin deficiencyEnrichmentPTS, QDPR1.16
538TyrosinemiaEnrichmentFAH, HPD1.16
539Dend syndromeEnrichmentABCC8, KCNJ111.16
540Heart, malformation ofEnrichmentARF3, CDK8, CERS11.12
541Charcot-marie-tooth diseaseEnrichmentFIG4, PLD3, SBF1, SBF2, SPTLC11.12
542Genetic steroid-resistant nephrotic syndromeEnrichmentCOQ8B, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93, PLCE11.09
543Diffuse large b-cell lymphomaEnrichmentCREBBP, PTEN, TBL1XR11.06
544Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.06
545Perrault syndrome 2EnrichmentGGPS1, HSD17B41.06
546Gastrointestinal stromal tumorEnrichmentSDHA, SDHB, SDHC1.06
547DystoniaEnrichmentARF3, GCH1, GNB1, IMPDH2, MT-ND1, MT-ND6, PANK2, SPR, TH1.02
548Stroke, ischemicEnrichmentACSL4, ALOX5AP0.98
549Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R10.98
550Calvarial doughnut lesions with bone fragilityEnrichmentSGMS20.96
551Hyperlipoproteinemia, type vEnrichmentAPOA50.96
552Glaucoma 1, open angle, aEnrichmentCYP1B10.96
553Gordon holmes syndromeEnrichmentPNPLA60.96
554Corticosterone methyloxidase type i deficiencyEnrichmentCYP11B20.96
555Spinal muscular atrophy with progressive myoclonic epilepsyEnrichmentASAH10.96
556Acyl-coa dehydrogenase, short-chain, deficiency ofEnrichmentACADS0.96
557Farber lipogranulomatosisEnrichmentASAH10.96
558Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyEnrichmentHSD3B20.96
559Tangier diseaseEnrichmentABCA10.96
560Chylomicron retention diseaseEnrichmentSAR1B0.96
561Hyper-igd syndromeEnrichmentMVK0.96
562Thumb deformityEnrichmentCREBBP0.96
563Ceroid lipofuscinosis, neuronal, 1EnrichmentPPT10.96
564Ebstein anomalyEnrichmentCDK80.96
565Gaucher disease, type iiicEnrichmentGBA10.96
566Chanarin-dorfman syndromeEnrichmentABHD50.96
567Glycerol kinase deficiencyEnrichmentGK0.96
568Carnitine palmitoyltransferase ii deficiency, infantileEnrichmentCPT20.96
569Toe syndactyly, telecanthus, and anogenital and renal malformationsEnrichmentSTAR0.96
570AdrenoleukodystrophyEnrichmentABCD10.96
571Carotid intimal medial thickness 1EnrichmentPPARG0.96
572Hardikar syndromeEnrichmentMED120.96
573Stargardt disease 3EnrichmentELOVL40.96
574Opitz-kaveggia syndromeEnrichmentMED120.96
575Lethal congenital contracture syndrome 3EnrichmentPIP5K1C0.96
576Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R50.96
577Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentCYP2R10.96
578Salt and pepper developmental regression syndromeEnrichmentST3GAL50.96
579Gaucher disease, perinatal lethalEnrichmentGBA10.96
580Spastic paraplegia 35, autosomal recessive, with or without neurodegenerationEnrichmentFA2H0.96
581Corticosterone methyloxidase type ii deficiencyEnrichmentCYP11B20.96
582Neutral lipid storage disease with myopathyEnrichmentPNPLA20.96
583Hypercalcemia, infantile, 1EnrichmentCYP24A10.96
584Carnitine palmitoyltransferase ii deficiency, lethal neonatalEnrichmentCPT20.96
585Microvascular complications of diabetes 5EnrichmentPON10.96
586Cholestasis, benign recurrent intrahepatic, 2EnrichmentABCB110.96
587Hyperinsulinemic hypoglycemia, familial, 4EnrichmentHADH0.96
588Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD30.96
589Keratosis, seborrheicEnrichmentPIK3CA0.96
590Porokeratosis 5, disseminated superficial actinic typeEnrichmentMVK0.96
591Combined malonic and methylmalonic aciduriaEnrichmentACSF30.96
592Neutrophilia, hereditaryEnrichmentPIP4K2B0.96
593Roifman-chitayat syndromeEnrichmentPIK3CD0.96
594Vitamin b12 plasma level quantitative trait locus 1EnrichmentFUT20.96
595Bardet-biedl syndrome 10EnrichmentOSBPL80.96
596Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic faciesEnrichmentCERT10.96
597Gaucher disease, type iiiEnrichmentGBA10.96
598Bleeding disorder, platelet-type, 19EnrichmentPRKACG0.96
599Charcot-marie-tooth disease, axonal, type 2b2EnrichmentMED250.96
600Cholestasis, progressive familial intrahepatic, 4EnrichmentABCB110.96
601LathosterolosisEnrichmentSC5D0.96
602Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A0.96
603GalactosialidosisEnrichmentCTSA0.96
604Noonan syndrome 8EnrichmentPIK3CA0.96
605Spondylometaphyseal dysplasia with cone-rod dystrophyEnrichmentPCYT1A0.96
606Parkinson disease 20, early-onsetEnrichmentSYNJ10.96
607Carnitine palmitoyltransferase ii deficiency, myopathic, stress-inducedEnrichmentCPT20.96
608Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B0.96
609Bleeding disorder, platelet-type, 14EnrichmentTBXAS10.96
610Bile acid synthesis defect, congenital, 4EnrichmentAMACR0.96
611Alpha-methylacyl-coa racemase deficiencyEnrichmentAMACR0.96
612Anterior segment dysgenesis 6EnrichmentCYP1B10.96
613Hypothyroidism, congenital, nongoitrous, 6EnrichmentNR1D10.96
614Mitochondrial short-chain enoyl-coa hydratase 1 deficiencyEnrichmentECHS10.96
615Encephalopathy, acute, infection-induced 4EnrichmentCPT20.96
616Developmental and epileptic encephalopathy 15EnrichmentST3GAL30.96
617Cholestasis, progressive familial intrahepatic, 2EnrichmentABCB110.96
61817-beta hydroxysteroid dehydrogenase iii deficiencyEnrichmentHSD17B30.96
619Neurodevelopmental disorder with speech delay and variable ocular anomaliesEnrichmentACSM30.96
620Dystonia 22, juvenile-onsetEnrichmentTSPOAP10.96
621Periventricular nodular heterotopia 8EnrichmentARF10.96
622Sjogren-larsson syndromeEnrichmentALDH3A20.96
623Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B0.96
624Spastic paraplegia 82, autosomal recessiveEnrichmentPCYT20.96
625Ohdo syndrome, x-linkedEnrichmentMED120.96
626Menke-hennekam syndrome 2EnrichmentEP3000.96
627Ichthyosis, x-linkedEnrichmentSTS0.96
6283-hydroxy-3-methylglutaryl-coa synthase-2 deficiencyEnrichmentHMGCS20.96
629Spinocerebellar ataxia 46EnrichmentPLD30.96
630Squalene synthase deficiencyEnrichmentFDFT10.96
631Cortisone reductase deficiency 2EnrichmentHSD11B10.96
632Interstitial nephritis, karyomegalicEnrichmentMTMR100.96
633Hypospadias 1, x-linkedEnrichmentHSD3B20.96
634Salt and pepper syndromeEnrichmentST3GAL50.96
635Alopecia-intellectual disability syndrome 4EnrichmentLSS0.96
636Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB0.96
637Combined saposin deficiencyEnrichmentPSAP0.96
638Charcot-marie-tooth disease type 2b2EnrichmentMED250.96
639Congenital disorder of glycosylation, type iqEnrichmentSRD5A30.96
640Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.96
641Striatonigral degeneration, childhood-onsetEnrichmentVAC140.96
642Myasthenic syndrome, congenital, 20, presynapticEnrichmentSLC22A50.96
643Rosette-forming glioneuronal tumorEnrichmentPIK3CA0.96
644Cortisone reductase deficiencyEnrichmentHSD11B10.96
645Bile acid malabsorption, primary, 2EnrichmentSLC51B0.96
646Porokeratosis 9, multiple typesEnrichmentFDPS0.96
647Hereditary spastic paraplegia 35EnrichmentFA2H0.96
648Severe congenital neutropenia 7EnrichmentPIP4K2B0.96
649Primary hypertrophic osteoarthropathyEnrichmentHPGD0.96
650Respiratory system diseaseEnrichmentMTM10.96
651Fibrolamellar carcinomaEnrichmentPRKACA0.96
652Liberfarb syndromeEnrichmentPISD0.96
653Cic-rearranged sarcomaEnrichmentAKR1C20.96
654Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A0.96
655Developmental and epileptic encephalopathy 38EnrichmentARV10.96
656Immune system diseaseEnrichmentPIK3CD0.96
657B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A0.96
658Spastic paraplegia 46, autosomal recessiveEnrichmentGBA20.96
659Schizophrenia 19EnrichmentCPNE10.96
6603 beta-hydroxysteroid dehydrogenase deficiencyEnrichmentHSD3B20.96
661Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA0.96
662Epilepsy, progressive myoclonic, 8EnrichmentCERS10.96
663Combined psap deficiencyEnrichmentPSAP0.96
664Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresEnrichmentELOVL10.96
665Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA10.96
666Cholestasis-pigmentary retinopathy-cleft palate syndromeEnrichmentMED120.96
667Myasthenic syndrome, congenital, 21, presynapticEnrichmentCHAT0.96
668Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalitiesEnrichmentPI4K2A0.96
669Status epilepticusEnrichmentGALC0.96
670Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK80.96
671Combined immunodeficiency-multiple intestinal atresiaEnrichmentPI4KA0.96
672Autosomal recessive infantile hypercalcemiaEnrichmentCYP24A10.96
673Spondyloepiphyseal dysplasia, kondo-fu typeEnrichmentMBTPS10.96
674Amyloidosis, hereditary systemic 3EnrichmentAPOA10.96
675Lipodystrophy, congenital generalized, type 5EnrichmentPCYT1A0.96
676Med12-related disordersEnrichmentMED120.96
677Familial partial lipodystrophyEnrichmentPPARG0.96
678Primary congenital glaucomaEnrichmentCYP1B10.96
679Short femurEnrichmentINPP5E0.96
680Blepharophimosis - intellectual disability syndrome, mkb typeEnrichmentMED120.96
681CaddsEnrichmentABCD10.96
682Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentGPD10.96
683Familial hypoaldosteronismEnrichmentCYP11B20.96
684Vacterl with hydrocephalusEnrichmentPTEN0.96
685Charcot-marie-tooth disease type 4fEnrichmentPLD30.96
686X-linked myotubular myopathy-abnormal genitalia syndromeEnrichmentMTM10.96
687GlycoproteinosisEnrichmentNEU10.96
688Juvenile polyposis of infancyEnrichmentPTEN0.96
689Non-syndromic syndactylyEnrichmentLRP20.96
690Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA0.96
691Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G60.96
692Early-onset familial hypoaldosteronismEnrichmentCYP11B20.96
693Leber plus diseaseEnrichmentGPHN, IMPDH1, INPP5E, LRAT, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFAF5, NDUFS2, NMNAT1, PCYT1A0.94
694Hypertension, essentialEnrichmentAGT, CYP3A5, GNB3, NOS3, PTGIS0.91
695Pectus excavatumEnrichmentARF3, INPP4A0.91
696Glycine encephalopathy 1EnrichmentAMT, GCSH, GLDC0.91
697Mitochondrial dna depletion syndrome 4bEnrichmentRANBP2, SCO2, TYMP0.91
698Homozygous familial hypercholesterolemiaEnrichmentAPOB, LDLR, LDLRAP10.91
699Myoclonic epilepsy of lafora 1EnrichmentEPM2A, NHLRC10.91
700Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA1, PDHX0.91
701Tyrosinemia, type iiEnrichmentFAH, TAT0.91
702Methylmalonic aciduria and homocystinuria, cbld typeEnrichmentMMACHC, MMADHC0.91
703Developmental and epileptic encephalopathy 2EnrichmentCACNA1A, SNAP250.91
704Spinocerebellar ataxia 15EnrichmentITPR1, SUMF10.91
705Mitochondrial complex v deficiency, nuclear type 3EnrichmentATP5F1E, UQCRC20.91
706Leptin deficiency or dysfunctionEnrichmentPPARG, UCP30.91
707Generalized epilepsyEnrichmentDDHD2, GLDC0.91
708ProlactinomaEnrichmentAIP, LRP20.91
709Autosomal recessive isolated optic atrophyEnrichmentACO2, MCAT0.91
710StrabismusEnrichmentCACNA1A, GALC, GNB1, MED13L, SLC2A1, STXBP1, TYR0.89
711Hypercholesterolemia, familial, 1EnrichmentAPOA2, APOB, EPHX2, LDLR0.85
712MeningiomaEnrichmentPIK3CA, PTEN0.85
713ScoliosisEnrichmentARF3, CREBBP, MED13L0.83
714Optic atrophy plus syndromeEnrichmentACO2, CYP4V2, ISCA2, MECR, MT-ND1, MT-ND4, MT-ND6, OAT, SNAP25, TMEM126A0.81
715Prognathism, mandibularEnrichmentCSNK2B0.80
716Right atrial isomerismEnrichmentCERS10.80
717Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiencyEnrichmentCYP11B10.80
718Gm1-gangliosidosis, type iEnrichmentGLB10.80
719Mucopolysaccharidosis, type ivbEnrichmentGLB10.80
720OpsismodysplasiaEnrichmentINPPL10.80
721Gaucher disease, type iiEnrichmentGBA10.80
722Carnitine deficiency, systemic primaryEnrichmentSLC22A50.80
723Gm1-gangliosidosis, type iiEnrichmentGLB10.80
724Myasthenic syndrome, congenital, 6, presynapticEnrichmentCHAT0.80
725Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentMED120.80
726Niemann-pick disease, type aEnrichmentSMPD10.80
727Pierpont syndromeEnrichmentTBL1XR10.80
728Heart defects, congenital, and other congenital anomaliesEnrichmentACADVL0.80
729Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN10.80
730Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.80
731Multicentric osteolysis, nodulosis, and arthropathyEnrichmentLPCAT20.80
732Late-onset retinal degenerationEnrichmentPLA2G50.80
733Barth syndromeEnrichmentTAFAZZIN0.80
734Pituitary hormone deficiency, combined, 4EnrichmentACBD60.80
735Transposition of the great arteries, dextro-loopedEnrichmentMED13L0.80
736Niemann-pick disease, type bEnrichmentSMPD10.80
737Aromatase excess syndromeEnrichmentCYP19A10.80
738Heparin cofactor ii deficiencyEnrichmentPI4KA0.80
739Ichthyosis, congenital, autosomal recessive 3EnrichmentALOXE30.80
740Caffey diseaseEnrichmentA4GALT0.80
741Lipodystrophy, familial partial, type 6EnrichmentLIPE0.80
742Gm1-gangliosidosis, type iiiEnrichmentGLB10.80
743Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentABCD10.80
744Congenital heart defects, multiple types, 6EnrichmentCERS10.80
745Lipodystrophy, familial partial, type 4EnrichmentPLIN10.80
746Weill-marchesani syndrome 4EnrichmentCERS30.80
747Charcot-marie-tooth disease, demyelinating, type 4b3EnrichmentSBF10.80
748Anus, imperforateEnrichmentMED120.80
749Refsum disease, classicEnrichmentPHYH0.80
750Auditory neuropathy and optic atrophyEnrichmentFDXR0.80
751Intellectual developmental disorder, autosomal dominant 61EnrichmentMED130.80
752Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2EnrichmentARSA0.80
753Hypertrophic osteoarthropathy, primary, autosomal recessive, 1EnrichmentHPGD0.80
754Proteinuria, chronic benignEnrichmentCUBN0.80
755Tethered spinal cord syndromeEnrichmentCREBBP0.80
756Dent diseaseEnrichmentOCRL0.80
757Charcot-marie-tooth disease type 4b3EnrichmentSBF10.80
758Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD10.80
759Hereditary spastic paraplegia 56EnrichmentCYP2U10.80
760Bronchopulmonary dysplasiaEnrichmentCHAT0.80
761Multiple mitochondrial dysfunctions syndrome 9bEnrichmentFDXR0.80
762Intellectual developmental disorder, autosomal dominant 62EnrichmentACADVL0.80
763Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentMBTPS20.80
764Interstitial lung diseaseEnrichmentINPP5E0.80
765Gm1 gangliosidosisEnrichmentGLB10.80
766CholestasisEnrichmentSLC51B0.80
767Intraocular pressure quantitative trait locusEnrichmentCREBBP0.80
768Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticumEnrichmentCYP2U10.80
769Aromatase deficiencyEnrichmentCYP19A10.80
770Deficiency of steroid 11-beta-monooxygenaseEnrichmentCYP11B10.80
771Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR10.80
772Gaucher's diseaseEnrichmentGBA10.80
773Laryngeal squamous cell carcinomaEnrichmentPTEN0.80
774Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA10.80
775Dlg4-related synaptopathyEnrichmentACADVL0.80
776Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentABCD10.80
777Atypical juvenile parkinsonismEnrichmentSYNJ10.80
778Respiratory failureEnrichmentINPP5E0.80
779Cole-carpenter syndromeEnrichmentSEC24D0.80
780Alopecia - intellectual disability syndromeEnrichmentLSS0.80
781KeratoacanthomaEnrichmentPIK3CA0.80
782Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.80
783Carpal tunnel syndrome 1EnrichmentTTR0.80
784Hypercarotenemia and vitamin a deficiency, autosomal dominantEnrichmentBCO10.80
785Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR20.80
786Adenosine triphosphate, elevated, of erythrocytesEnrichmentPKLR0.80
787Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecansEnrichmentACAN0.80
788Hereditary leiomyomatosis and renal cell cancerEnrichmentFH0.80
789Proteus syndromeEnrichmentAKT10.80
790Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR0.80
791Blood group, rh systemEnrichmentRHD0.80
792Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA110.80
793Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A0.80
794Hyperchlorhidrosis, isolatedEnrichmentCA120.80
795Macular dystrophy, cornealEnrichmentCHST60.80
796ChondrosarcomaEnrichmentEXT10.80
797Erythrocytosis, familial, 8EnrichmentBPGM0.80
798CystathioninuriaEnrichmentCTH0.80
799Diastrophic dysplasiaEnrichmentSLC26A20.80
800Dihydropyrimidinase deficiencyEnrichmentDPYS0.80
801Hyperlysinemia, type iEnrichmentAASS0.80
802Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeEnrichmentSLC25A150.80
803Neu-laxova syndrome 1EnrichmentPHGDH0.80
804Leukodystrophy, hypomyelinating, 3EnrichmentAIMP10.80
805Atrophoderma vermiculataEnrichmentLRP10.80
806Beta-aminoisobutyric aciduriaEnrichmentAGXT20.80
807Glycogen storage disease viEnrichmentPYGL0.80
808Calcification of joints and arteriesEnrichmentNT5E0.80
809Glycoprotein storage diseaseEnrichmentGAA0.80
810Holocarboxylase synthetase deficiencyEnrichmentHLCS0.80
811Glycogen storage disease vEnrichmentPYGM0.80
812Mitochondrial dna depletion syndrome 9EnrichmentSUCLG10.80
813D-glyceric aciduriaEnrichmentGLYCTK0.80
814Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK10.80
815Transcobalamin i deficiencyEnrichmentTCN10.80
816Anemia, congenital, nonspherocytic hemolytic, 2EnrichmentPKLR0.80
817Methylmalonic aciduria and homocystinuria, cblf typeEnrichmentLMBRD10.80
818Acetylation, slowEnrichmentNAT20.80
819Linear skin defects with multiple congenital anomalies 2EnrichmentCOX7B0.80
820Oxoglutarate dehydrogenase deficiencyEnrichmentOGDH0.80
821Charcot-marie-tooth disease, x-linked recessive, 5EnrichmentPRPS10.80
822Mitochondrial complex i deficiency, nuclear type 30EnrichmentNDUFB110.80
823Argininosuccinic aciduriaEnrichmentASL0.80
824Sea-blue histiocyte diseaseEnrichmentAPOE0.80
825Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiencyEnrichmentFLAD10.80
826Hsd10 mitochondrial diseaseEnrichmentHSD17B100.80
827Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK10.80
828Fructose-1,6-bisphosphatase deficiencyEnrichmentFBP10.80
829Thyroid dyshormonogenesis 4EnrichmentIYD0.80
830Phosphoglycerate kinase 1 deficiencyEnrichmentPGK10.80
831Urocanase deficiencyEnrichmentUROC10.80
832Arts syndromeEnrichmentPRPS10.80
833Ataxia and polyneuropathy, adult-onsetEnrichmentMT-ATP60.80
834Epilepsy, early-onset, 4, vitamin b6-dependentEnrichmentALDH7A10.80
835Intellectual developmental disorder, x-linked, syndromic 35EnrichmentRPL100.80
836Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ110.80
837Anemia, congenital, nonspherocytic hemolytic, 8EnrichmentNT5C3A0.80
838Glutathione synthetase deficiencyEnrichmentGSS0.80
839Spastic paraplegia 9a, autosomal dominantEnrichmentALDH18A10.80
840Retinitis pigmentosa 99EnrichmentIDH3G0.80
841Pheochromocytoma/paraganglioma syndrome 2EnrichmentSDHAF20.80
842Thyroid dyshormonogenesis 1EnrichmentSLC5A50.80
843Phosphoglycerate dehydrogenase deficiencyEnrichmentPHGDH0.80
844Ataxia with vitamin e deficiencyEnrichmentTTPA0.80
845Polyglucosan body neuropathy, adult formEnrichmentGBE10.80
846Retinitis pigmentosa 17EnrichmentCA40.80
847Asplenia, isolated congenitalEnrichmentRPSA0.80
848Charcot-marie-tooth disease, x-linked dominant, 6EnrichmentPDK30.80
849T-substance anomalyEnrichmentFAH0.80
850Hyperoxaluria, primary, type iiEnrichmentGRHPR0.80
851Spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemiaEnrichmentABCB70.80
852Albinism, oculocutaneous, type ivEnrichmentSLC45A20.80
853Aica-ribosiduria due to atic deficiencyEnrichmentATIC0.80
854Orotic aciduriaEnrichmentUMPS0.80
855Mitochondrial complex i deficiency, mitochondrial type 1EnrichmentMT-ND30.80
856Myoglobinuria, recurrentEnrichmentMT-CO10.80
857Albinism, oculocutaneous, type ibEnrichmentTYR0.80
858Myopathy, lactic acidosis, and sideroblastic anemia 3EnrichmentMT-ATP60.80
859Atelosteogenesis, type iiEnrichmentSLC26A20.80
860Fumarase deficiencyEnrichmentFH0.80
861Congenital disorder of glycosylation, type iidEnrichmentB4GALT10.80
862Vitamin k-dependent clotting factors, combined deficiency of, 2EnrichmentVKORC10.80
863Basal ganglia disease, biotin-thiamine responsiveEnrichmentSLC19A30.80
864Beta-ureidopropionase deficiencyEnrichmentUPB10.80
865Pseudohypoparathyroidism, type icEnrichmentGNAS0.80
866Diamond-blackfan anemia 10EnrichmentRPS260.80
867Isobutyryl-coa dehydrogenase deficiencyEnrichmentACAD80.80
868Retinopathy-sensory neuropathy syndromeEnrichmentFLVCR10.80
869Fanconi anemia, complementation group jEnrichmentBRIP10.80
870Carney complex, type 1EnrichmentPRKAR1A0.80
871Brugada syndrome 4EnrichmentCACNB20.80
872Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A10.80
873Al-gazali syndromeEnrichmentB3GALT60.80
874Bone mineral density quantitative trait locus 12EnrichmentUGT2B170.80
875Pyridoxamine 5-prime-phosphate oxidase deficiencyEnrichmentPNPO0.80
876Glycogen storage disease xiiiEnrichmentENO30.80
877Developmental and epileptic encephalopathy 39 with leukodystrophyEnrichmentSLC25A120.80
878Thiopurines, poor metabolism of, 1EnrichmentTPMT0.80
8792-methylbutyryl-coa dehydrogenase deficiencyEnrichmentACADSB0.80
880Colorectal cancer 10EnrichmentPOLD10.80
881Osseous heteroplasia, progressiveEnrichmentGNAS0.80
882Brachyolmia type 4 with mild epiphyseal and metaphyseal changesEnrichmentPAPSS20.80
883Erythrocyte amp deaminase deficiencyEnrichmentAMPD30.80
884Mitochondrial complex iii deficiency, nuclear type 3EnrichmentUQCRB0.80
885Glycogen storage disease ixcEnrichmentPHKG20.80
886Maturity-onset diabetes of the young, type 2EnrichmentGCK0.80
887Hydroxyacyl glutathione hydrolase deficiencyEnrichmentHAGH0.80
888Infantile liver failure syndrome 1EnrichmentLARS10.80
889Mitochondrial complex iii deficiency, nuclear type 6EnrichmentCYC10.80
890Ehlers-danlos syndrome, musculocontractural type, 2EnrichmentDSE0.80
891Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD10.80
892Coproporphyria, hereditaryEnrichmentCPOX0.80
893Lipoprotein glomerulopathyEnrichmentAPOE0.80
894Adenylosuccinase deficiencyEnrichmentADSL0.80
895Chilblain lupus 2EnrichmentSAMHD10.80
896Mitochondrial complex iii deficiency, nuclear type 7EnrichmentUQCC20.80
897Amyloidosis, hereditary systemic 1EnrichmentTTR0.80
898Hypotrichosis 12EnrichmentRPL210.80
899Schnyder corneal dystrophyEnrichmentUBIAD10.80
900Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT70.80
901Hyperlipoproteinemia, type idEnrichmentGPIHBP10.80
9022,4-dienoyl-coa reductase deficiencyEnrichmentNADK20.80
903Diamond-blackfan anemia 13EnrichmentRPS290.80
904Keratosis pilaris atrophicansEnrichmentLRP10.80
905Muscular dystrophy-dystroglycanopathy , type a, 13EnrichmentB4GAT10.80
906Multiple mitochondrial dysfunctions syndrome 4EnrichmentISCA20.80
907Epiphyseal dysplasia, multiple, 4EnrichmentSLC26A20.80
908Glycogen storage disease icEnrichmentSLC37A40.80
909Glycogen storage disease ibEnrichmentSLC37A40.80
910HydroxykynureninuriaEnrichmentKYNU0.80
911Thiamine metabolism dysfunction syndrome 5EnrichmentTPK10.80
912Lichtenstein-knorr syndromeEnrichmentSLC9A10.80
913Pheochromocytoma/paraganglioma syndrome 3EnrichmentSDHC0.80
914Fructosuria, essentialEnrichmentKHK0.80
915Anemia, congenital, nonspherocytic hemolytic, 6EnrichmentGSS0.80
916Isovaleric acidemiaEnrichmentIVD0.80
917Anemia, sideroblastic, 3, pyridoxine-refractoryEnrichmentGLRX50.80
918Carbonic anhydrase va deficiency, hyperammonemia due toEnrichmentCA5A0.80
919Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM20.80
920Alpha-aminoadipic and alpha-ketoadipic aciduriaEnrichmentDHTKD10.80
921Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY50.80
922Immunodeficiency 24EnrichmentCTPS10.80
923Cornea plana 2, autosomal recessiveEnrichmentKERA0.80
9243-hydroxyisobutyryl-coa hydrolase deficiencyEnrichmentHIBCH0.80
925Cutis laxa, autosomal recessive, type iiiaEnrichmentALDH18A10.80
926Galactosemia iiiEnrichmentGALE0.80
927Thyroid dyshormonogenesis 6EnrichmentDUOX20.80
928Biotinidase deficiencyEnrichmentBTD0.80
929HistidinemiaEnrichmentHAL0.80
930Mucopolysaccharidosis, type iiidEnrichmentGNS0.80
931Exercise intolerance, riboflavin-responsiveEnrichmentSLC25A320.80
932PhosphohydroxylysinuriaEnrichmentPHYKPL0.80
933Myopathy with lactic acidosis, hereditaryEnrichmentISCU0.80
934Even-plus syndromeEnrichmentHSPA90.80
935Spondyloenchondrodysplasia with immune dysregulationEnrichmentACP50.80
936Short stature, developmental delay, and congenital heart defectsEnrichmentTKT0.80
937Microphthalmia/coloboma 10EnrichmentRBP40.80
938Anemia, congenital, nonspherocytic hemolytic, 7EnrichmentGCLC0.80
939Triosephosphate isomerase deficiencyEnrichmentTPI10.80
940Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activityEnrichmentMTHFR0.80
941Deafness, autosomal recessive 44EnrichmentADCY10.80
942Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiencyEnrichmentAHCY0.80
943Fucosyltransferase 6 deficiencyEnrichmentFUT60.80
944HyperbiliverdinemiaEnrichmentBLVRA0.80
945Blood group, sid systemEnrichmentB4GALNT20.80
946Fazio-londe diseaseEnrichmentSLC52A30.80
947Pheochromocytoma/paraganglioma syndrome 5EnrichmentSDHA0.80
948Skin/hair/eye pigmentation, variation in, 5EnrichmentSLC45A20.80
949Coenzyme q10 deficiency, primary, 4EnrichmentCOQ8A0.80
950Hypermethioninemia due to adenosine kinase deficiencyEnrichmentADK0.80
951Retinitis pigmentosa 79EnrichmentHK10.80
952Anemia, sideroblastic, 4EnrichmentHSPA90.80
953Diamond-blackfan anemia 7EnrichmentRPL110.80
954Cutis laxa, autosomal recessive, type iiibEnrichmentPYCR10.80
955Retinitis pigmentosa 10EnrichmentIMPDH10.80
956Intellectual developmental disorder, autosomal recessive 51EnrichmentHNMT0.80
957Sturge-weber syndromeEnrichmentGNAQ0.80
958Ventricular tachycardia, familialEnrichmentGNAI20.80
959Chondrodysplasia with joint dislocations, gpapp typeEnrichmentBPNT20.80
9603-methylcrotonyl-coa carboxylase 2 deficiencyEnrichmentMCCC20.80
961AlkaptonuriaEnrichmentHGD0.80
962Arterial calcification, generalized, of infancy, 1EnrichmentENPP10.80
963Diamond-blackfan anemia 18EnrichmentRPL180.80
964Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS0.80
965Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionEnrichmentSLC25A420.80
966Neurofacioskeletal syndrome with or without renal agenesisEnrichmentHS2ST10.80
967Mitochondrial complex i deficiency, nuclear type 37EnrichmentNDUFA80.80
968Fetal akinesia deformation sequence 4EnrichmentNUP880.80
969Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC10.80
970Spondyloepimetaphyseal dysplasia, isidor-toutain typeEnrichmentRPL130.80
971Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR0.80
972Skin/hair/eye pigmentation, variation in, 3EnrichmentTYR0.80
973Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB20.80
974Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG20.80
975Spermatogenic failure 63EnrichmentRPL10L0.80
976Dystonia, early-onset, and/or spastic paraplegiaEnrichmentATP5MC30.80
977Atrial fibrillation, familial, 15EnrichmentNUP1550.80
978Bjornstad syndromeEnrichmentBCS1L0.80
979Mitochondrial complex iv deficiency, nuclear type 8EnrichmentTACO10.80
980Sedoheptulokinase deficiencyEnrichmentSHPK0.80
981Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB30.80
982Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEnrichmentB3GALT60.80
983Sulfite oxidase deficiency, isolatedEnrichmentSUOX0.80
984Retinitis pigmentosa 90EnrichmentIDH3A0.80
985Intellectual developmental disorder, autosomal recessive 46EnrichmentNDST10.80
986Mitochondrial complex iv deficiency, nuclear type 18EnrichmentCOX6A20.80
987Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB10.80
988Neurodevelopmental disorder with microcephaly, ataxia, and seizuresEnrichmentSARS10.80
989Developmental and epileptic encephalopathy 117EnrichmentSNAP250.80
990Impdh2 enzyme activity, variation inEnrichmentIMPDH20.80
991Leukodystrophy, hypomyelinating, 10EnrichmentPYCR20.80
992Angioedema, hereditary, 8EnrichmentHS3ST60.80
993Leukodystrophy, hypomyelinating, 26, with chondrodysplasiaEnrichmentSLC35B20.80
994Combined oxidative phosphorylation deficiency 52EnrichmentNFS10.80
995Congenital disorder of glycosylation, type iiwEnrichmentSLC37A40.80
996Spastic paraplegia 9b, autosomal recessiveEnrichmentALDH18A10.80
997Autism x-linked 5EnrichmentRPL100.80
998Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP540.80
999Drug metabolism, altered, ces1-relatedEnrichmentCES10.80
1000Combined oxidative phosphorylation deficiency 29EnrichmentTXN20.80
1001Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY50.80
1002Mitochondrial complex i deficiency, nuclear type 9EnrichmentNDUFS60.80
1003Vertebral, cardiac, renal, and limb defects syndrome 2EnrichmentKYNU0.80
1004Mitochondrial complex i deficiency, nuclear type 23EnrichmentNDUFA120.80
1005Nephrotic syndrome, type 19EnrichmentNUP1600.80
1006Mitochondrial complex i deficiency, nuclear type 25EnrichmentNDUFB30.80
1007Pituitary adenoma 3, multiple typesEnrichmentGNAS0.80
1008Mitochondrial complex i deficiency, nuclear type 31EnrichmentTIMMDC10.80
1009Myoclonic epilepsy of lafora 2EnrichmentNHLRC10.80
1010Mitochondrial complex i deficiency, nuclear type 19EnrichmentFOXRED10.80
1011Maple syrup urine disease, type iiEnrichmentDBT0.80
1012Mitochondrial complex i deficiency, nuclear type 22EnrichmentNDUFA100.80
1013Hyperoxaluria, primary, type iEnrichmentAGXT0.80
1014Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionEnrichmentLETM10.80
1015Casgid syndromeEnrichmentGLS0.80
1016Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalitiesEnrichmentPGM2L10.80
1017Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR30.80
1018Maturity-onset diabetes of the young, type 12EnrichmentABCC80.80
1019Mitochondrial complex v deficiency, nuclear type 6EnrichmentATP5MK0.80
1020Brachycephaly, deafness, cataract, microstomia, and impaired intellectual developmentEnrichmentPOR0.80
1021Encephalopathy, porphyria-relatedEnrichmentHMBS0.80
1022Diamond-blackfan anemia 20EnrichmentRPS15A0.80
1023Hypervalinemia and hyperleucine-isoleucinemiaEnrichmentBCAT20.80
1024Fanconi renotubular syndrome 5EnrichmentNDUFAF60.80
1025Keipert syndromeEnrichmentGPC40.80
1026Coenzyme q10 deficiency, primary, 9EnrichmentCOQ50.80
1027Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA40.80
1028Mitochondrial complex iv deficiency, nuclear type 10EnrichmentCOX140.80
1029Mitochondrial complex iv deficiency, nuclear type 14EnrichmentCOA30.80
1030Immunodeficiency 120EnrichmentPOLD10.80
1031Blood group, lewis systemEnrichmentFUT30.80
1032Mitochondrial complex i deficiency, nuclear type 8EnrichmentNDUFS30.80
1033Mitochondrial complex i deficiency, nuclear type 11EnrichmentNDUFAF10.80
1034Homocystinuria-megaloblastic anemia, cbld typeEnrichmentMMADHC0.80
1035Bachmann-bupp syndromeEnrichmentODC10.80
1036Cerebral creatine deficiency syndrome 1EnrichmentSLC6A80.80
1037Mitochondrial complex iv deficiency, nuclear type 23EnrichmentCOX110.80
1038Immunoskeletal dysplasia with neurodevelopmental abnormalitiesEnrichmentEXTL30.80
1039Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB0.80
1040Stankiewicz-isidor syndromeEnrichmentPSMD120.80
1041Meester-loeys syndromeEnrichmentBGN0.80
1042Ichthyosis, congenital, autosomal recessive 14EnrichmentSULT2B10.80
1043Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG10.80
1044Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6EnrichmentRRM10.80
1045Dimethylglycine dehydrogenase deficiencyEnrichmentDMGDH0.80
1046Phosphoribosylpyrophosphate synthetase superactivityEnrichmentPRPS10.80
1047Vitamin b12 deficiencyEnrichmentAMN0.80
1048Spermatogenic failure 27EnrichmentAK70.80
1049Megaloblastic anemia, folate-responsiveEnrichmentSLC19A10.80
1050HyperhomocysteinemiaEnrichmentCBS0.80
1051Body mass index quantitative trait locus 4EnrichmentUCP20.80
1052Deafness, x-linked 1EnrichmentPRPS10.80
1053Ornithine transcarbamylase deficiency, hyperammonemia due toEnrichmentOTC0.80
1054Mitochondrial complex i deficiency, nuclear type 17EnrichmentNDUFAF60.80
1055Mitochondrial complex i deficiency, nuclear type 26EnrichmentNDUFA90.80
1056SaccharopinuriaEnrichmentAASS0.80
1057Mitochondrial complex i deficiency, nuclear type 29EnrichmentTMEM126B0.80
1058Galloway-mowat syndrome 8EnrichmentNUP1330.80
1059Auriculocondylar syndrome 2aEnrichmentPLCB40.80
1060Pyruvate dehydrogenase phosphatase deficiencyEnrichmentPDP10.80
1061SarcosinemiaEnrichmentSARDH0.80
1062Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST0.80
1063Brunner syndromeEnrichmentMAOA0.80
1064Xeroderma pigmentosum, complementation group dEnrichmentERCC20.80
1065Galactosemia ivEnrichmentGALM0.80
1066Linear skin defects with multiple congenital anomalies 3EnrichmentNDUFB110.80
1067Diamond-blackfan anemia 3EnrichmentRPS240.80
1068Mitochondrial complex v deficiency, nuclear type 4bEnrichmentATP5F1A0.80
1069Paganini-miozzo syndromeEnrichmentHS6ST20.80
1070Phosphoserine aminotransferase deficiencyEnrichmentPSAT10.80
1071Hereditary sensory neuropathyEnrichmentFLVCR10.80
1072Intellectual developmental disorder, x-linked, syndromic, snyder-robinson typeEnrichmentSMS0.80
1073Biotin deficiencyEnrichmentBTD0.80
1074Aicardi-goutieres syndrome 5EnrichmentSAMHD10.80
1075OncocytomaEnrichmentMT-ND60.80
1076HypertryptophanemiaEnrichmentTDO20.80
1077Mitochondrial dna depletion syndrome 5EnrichmentSUCLA20.80
1078Achondrogenesis, type ibEnrichmentSLC26A20.80
1079Cataract 49EnrichmentPANK40.80
1080Spasticity, childhood-onset, with hyperglycinemiaEnrichmentGLRX50.80
1081Nephrotic syndrome, type 13EnrichmentNUP2050.80
1082Developmental and epileptic encephalopathy 26EnrichmentKCNB10.80
1083Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B0.80
1084Diamond-blackfan anemia 8EnrichmentRPS70.80
1085Retinitis pigmentosa 46EnrichmentIDH3B0.80
1086Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI10.80
1087Leukodystrophy, childhood-onset, remittingEnrichmentFBP20.80
1088Charcot-marie-tooth disease, recessive intermediate bEnrichmentKARS10.80
1089Myxoma, intracardiacEnrichmentPRKAR1A0.80
1090Sudden cardiac failure, infantileEnrichmentPPA20.80
10915-oxoprolinase deficiencyEnrichmentOPLAH0.80
1092PentosuriaEnrichmentDCXR0.80
1093Intrinsic factor deficiencyEnrichmentCBLIF0.80
1094Syndromic x-linked intellectual disability type 10EnrichmentHSD17B100.80
1095Ribose 5-phosphate isomerase deficiencyEnrichmentRPIA0.80
1096Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ110.80
1097Sulfide:quinone oxidoreductase deficiencyEnrichmentSQOR0.80
1098Houge-janssens syndrome 2EnrichmentPPP2R1A0.80
1099Spondyloepimetaphyseal dysplasia, aggrecan typeEnrichmentACAN0.80
1100Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D0.80
1101Nephrotic syndrome, type 9EnrichmentCOQ8B0.80
1102Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC30.80
1103Mucopolysaccharidosis, type ixEnrichmentHYAL10.80
1104Neurodegeneration with brain iron accumulation 6EnrichmentCOASY0.80
1105Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK0.80
1106Cutis laxa, autosomal dominant 3EnrichmentALDH18A10.80
1107Gracile syndromeEnrichmentBCS1L0.80
1108Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY50.80
1109Mitochondrial complex iii deficiency, nuclear type 8EnrichmentLYRM70.80
1110Alcohol sensitivity, acuteEnrichmentALDH20.80
1111Peripheral motor neuropathy, childhood-onset, biotin-responsiveEnrichmentSLC5A60.80
1112Growth retardation, impaired intellectual development, hypotonia, and hepatopathyEnrichmentIARS10.80
1113Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB50.80
1114Spondyloocular syndromeEnrichmentXYLT20.80
1115Brugada syndrome 3EnrichmentCACNA1C0.80
1116Leukodystrophy, hypomyelinating, 9EnrichmentRARS10.80
1117Leiomyoma cutisEnrichmentFH0.80
1118Hyperinsulinemic hypoglycemia, familial, 6EnrichmentGLUD10.80
1119Gemistocytic astrocytomaEnrichmentIDH20.80
1120Protoplasmic astrocytomaEnrichmentIDH20.80
1121Ossification of the posterior longitudinal ligament of spineEnrichmentENPP10.80
1122Spondyloepiphyseal dysplasia, kimberley typeEnrichmentACAN0.80
1123Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK10.80
1124Developmental and epileptic encephalopathy 3EnrichmentSLC25A220.80
1125Osteochondrodysplasia, brachydactyly, and overlapping malformed digitsEnrichmentCHST110.80
1126Microcephaly 24, primary, autosomal recessiveEnrichmentNUP370.80
1127Developmental and epileptic encephalopathy 71EnrichmentGLS0.80
1128Galloway-mowat syndrome 7EnrichmentNUP1070.80
1129Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK10.80
1130Leber congenital amaurosis 11EnrichmentIMPDH10.80
1131Cerebrooculofacioskeletal syndrome 2EnrichmentERCC20.80
1132Aspartate aminotransferase, serum level of, quantitative trait locus 1EnrichmentGOT10.80
1133Cardiomyopathy, dilated, 1ggEnrichmentSDHA0.80
1134Mitochondrial dna depletion syndrome 19EnrichmentSLC25A100.80
1135Diamond-blackfan anemia 4EnrichmentRPS170.80
1136Efavirenz, poor metabolism ofEnrichmentCYP2B60.80
1137Lactate dehydrogenase b deficiencyEnrichmentLDHB0.80
1138Radiohumeral fusions with other skeletal and craniofacial anomaliesEnrichmentCYP26B10.80
1139Porphyria, acute hepaticEnrichmentALAD0.80
1140Apolipoprotein c-iii deficiencyEnrichmentAPOC30.80
1141Optic atrophy 7 with or without auditory neuropathyEnrichmentTMEM126A0.80
1142Pancreatic lipase deficiencyEnrichmentPNLIP0.80
1143Lethal congenital contracture syndrome 5EnrichmentDNM20.80
1144Epilepsy, idiopathic generalized 12EnrichmentSLC2A10.80
1145Hypophosphatemic rickets, autosomal recessive, 2EnrichmentENPP10.80
1146Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D0.80
1147Diamond-blackfan anemia 11EnrichmentRPL260.80
1148Branched-chain keto acid dehydrogenase kinase deficiencyEnrichmentBCKDK0.80
1149Maple syrup urine disease, mild variantEnrichmentPPM1K0.80
1150Focal facial dermal dysplasia 4EnrichmentCYP26C10.80
1151Coenzyme q10 deficiency, primary, 2EnrichmentPDSS10.80
1152Riboflavin deficiencyEnrichmentSLC52A10.80
1153Glucocorticoid deficiency 4 with or without mineralocorticoid deficiencyEnrichmentNNT0.80
1154D-2-hydroxyglutaric aciduria 2EnrichmentIDH20.80
1155Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG20.80
1156Deafness, autosomal dominant 40EnrichmentCRYM0.80
1157Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduriaEnrichmentIDH10.80
1158Leukoencephalopathy, porphyria-relatedEnrichmentHMBS0.80
1159Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP20.80
1160Mitochondrial complex iii deficiency, nuclear type 10EnrichmentUQCRFS10.80
1161Long qt syndrome 16EnrichmentCALM30.80
1162Hypocalcemia, autosomal dominant 2EnrichmentGNA110.80
1163Developmental and epileptic encephalopathy 84EnrichmentUGDH0.80
1164Cowden syndrome 6EnrichmentAKT10.80
1165Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeEnrichmentPOLD10.80
1166Charcot-marie-tooth disease, axonal, type 2qEnrichmentDHTKD10.80
1167Phosphoserine phosphatase deficiencyEnrichmentPSPH0.80
1168Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ110.80
1169Neuronopathy, distal hereditary motor, autosomal recessive 8EnrichmentSORD0.80
1170Nephrotic syndrome, type 12EnrichmentNUP930.80
1171Myopathy, distal, 5EnrichmentADSS10.80
1172Pulmonary hypertension, neonatalEnrichmentCPS10.80
1173Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT20.80
1174Congenital intrinsic factor deficiencyEnrichmentCBLIF0.80
1175Cole diseaseEnrichmentENPP10.80
1176Combined oxidative phosphorylation deficiency 18EnrichmentSFXN40.80
1177Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP250.80
1178Purine nucleoside phosphorylase deficiencyEnrichmentPNP0.80
1179Methylmalonic aciduria and homocystinuria, cblj typeEnrichmentABCD40.80
1180Autosomal recessive cutis laxa type iiiEnrichmentALDH18A10.80
1181Hypogonadotropic hypogonadism 15 with or without anosmiaEnrichmentHS6ST10.80
1182Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI0.80
1183Combined oxidative phosphorylation deficiency 22EnrichmentATP5F1A0.80
1184Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB40.80
1185Methylmalonic aciduria, transient, due to transcobalamin receptor defectEnrichmentCD3200.80
1186Maturity-onset diabetes of the young, type 13EnrichmentKCNJ110.80
1187Spermatogenic failure 70EnrichmentPDHA20.80
1188Developmental and epileptic encephalopathy 103EnrichmentKCNC20.80
1189Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisEnrichmentCOX4I20.80
1190Cutis laxa, autosomal recessive, type iibEnrichmentPYCR10.80
1191Neurodevelopmental disorder with microcephaly, absent speech, and hypotoniaEnrichmentFLVCR10.80
1192Hyperoxaluria, primary, type iiiEnrichmentHOGA10.80
1193Disorders of gnas inactivationEnrichmentGNAS0.80
1194Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3EnrichmentTK20.80
1195BrachyolmiaEnrichmentPAPSS20.80
1196Fasting plasma glucose level quantitative trait locus 5EnrichmentGCKR0.80
1197Megaloblastic anemia due to dihydrofolate reductase deficiencyEnrichmentDHFR0.80
1198Developmental and epileptic encephalopathy 51EnrichmentMDH20.80
1199Familial cold autoinflammatory syndrome 3EnrichmentPLCG20.80
1200N-acetylaspartate deficiencyEnrichmentNAT8L0.80
1201Coenzyme q10 deficiency, primary, 3EnrichmentPDSS20.80
1202Mitochondrial pyruvate carrier deficiencyEnrichmentMPC10.80
1203Syndromic x-linked intellectual disability snyder typeEnrichmentSMS0.80
1204Nephrotic syndrome, type 11EnrichmentNUP1070.80
1205Spondyloepimetaphyseal dysplasiaEnrichmentRPL130.80
1206Adult polyglucosan body diseaseEnrichmentGBE10.80
1207Heme oxygenase 1 deficiencyEnrichmentHMOX10.80
1208Hypomyelination with brainstem and spinal cord involvement and leg spasticityEnrichmentDARS10.80
1209Autosomal dominant hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.80
1210Autosomal recessive brachyolmiaEnrichmentPAPSS20.80
1211Triokinase and fmn cyclase deficiency syndromeEnrichmentTKFC0.80
1212Myopathy due to myoadenylate deaminase deficiencyEnrichmentAMPD10.80
1213Sodium-dependent multivitamin transporter deficiencyEnrichmentSLC5A60.80
1214Fumarate hydratase deficiencyEnrichmentFH0.80
1215Mixed oligodendroglioma-astrocytomaEnrichmentIDH20.80
1216Hereditary multiple osteochondromasEnrichmentEXT10.80
1217Mitochondrial complex i deficiency, nuclear type 24EnrichmentNDUFB90.80
1218Mitochondrial complex i deficiency, nuclear type 33EnrichmentNDUFA60.80
1219Developmental and epileptic encephalopathy 69EnrichmentCACNA1E0.80
1220Diamond-blackfan anemia 19EnrichmentRPL350.80
1221Neurodegeneration with ataxia and late-onset optic atrophyEnrichmentSDHA0.80
1222Charcot-marie-tooth disease, axonal, type 2uEnrichmentMARS10.80
1223Mahvash diseaseEnrichmentGCGR0.80
1224Encephalopathy, acute, infection-induced 9EnrichmentNUP2140.80
1225Mitochondrial complex iv deficiency, nuclear type 9EnrichmentCOA50.80
1226Anaplastic oligoastrocytomaEnrichmentIDH20.80
1227Sandestig-stefanova syndromeEnrichmentNUP1880.80
1228Thiopurines, poor metabolism of, 2EnrichmentNUDT150.80
1229Skeletal dysplasia, mild, with joint laxity and advanced bone ageEnrichmentCSGALNACT10.80
1230Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB10.80
1231HarderoporphyriaEnrichmentCPOX0.80
1232Childhood encephalopathy due to thiamine pyrophosphokinase deficiencyEnrichmentTPK10.80
1233Thyroid hormone metabolism, abnormal, 2EnrichmentDIO10.80
1234Holoprosencephaly 14EnrichmentPLCH10.80
1235Mitochondrial complex iv deficiency, nuclear type 7EnrichmentCOX6B10.80
1236Sudden cardiac failure, alcohol-inducedEnrichmentPPA20.80
1237Mitochondrial complex iv deficiency, nuclear type 20EnrichmentCOX5A0.80
1238Rh-null, amorph typeEnrichmentRHCE0.80
1239Mitochondrial complex iii deficiency, nuclear type 11EnrichmentUQCRH0.80
1240Ovarian dysgenesis 6EnrichmentNUP1070.80
1241Maleylacetoacetate isomerase deficiencyEnrichmentGSTZ10.80
1242Mitochondrial complex i deficiency, nuclear type 6EnrichmentNDUFS20.80
1243Mitochondrial complex i deficiency, nuclear type 21EnrichmentNUBPL0.80
1244Mitochondrial complex i deficiency, nuclear type 32EnrichmentNDUFB80.80
1245Amyotrophic lateral sclerosis 24EnrichmentNEK10.80
1246Leukodystrophy, hypomyelinating, 15EnrichmentEPRS10.80
1247Mitochondrial complex v deficiency, nuclear type 4aEnrichmentATP5F1A0.80
1248Spastic ataxia 9, autosomal recessiveEnrichmentCHP10.80
1249Sick sinus syndrome 4EnrichmentGNB20.80
1250Combined low ldl and fibrinogenEnrichmentB4GALT10.80
1251Neuropathy, hereditary motor and sensory, type vic, with optic atrophyEnrichmentPDXK0.80
1252Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR0.80
1253Cutaneous porphyriaEnrichmentUROS0.80
1254Trichothiodystrophy 9, nonphotosensitiveEnrichmentMARS10.80
1255Pontocerebellar hypoplasia, type 12EnrichmentCOASY0.80
1256Muscular lipidosisEnrichmentCOASY0.80
1257Choroid diseaseEnrichmentOAT0.80
1258Nephrotic syndrome, type 18EnrichmentNUP1330.80
1259Developmental and epileptic encephalopathy 116EnrichmentGLUL0.80
1260ExostosisEnrichmentEXT10.80
1261ArteriosclerosisEnrichmentHS3ST10.80
1262Pheochromocytoma/paraganglioma syndrome 6EnrichmentSLC25A110.80
1263Intellectual developmental disorder, autosomal recessive 59EnrichmentIMPA10.80
1264Vertebral, cardiac, renal, and limb defects syndrome 3EnrichmentNADSYN10.80
1265Molybdenum cofactor deficiency, type b2EnrichmentMOCS30.80
1266Brachycephaly, trichomegaly, and developmental delayEnrichmentRPS230.80
1267Lethal occipital encephalocele-skeletal dysplasia syndromeEnrichmentCYP26B10.80
1268Cardiomyopathy, dilated, 2dEnrichmentRPL3L0.80
1269Madras motor neuron diseaseEnrichmentSLC52A30.80
1270Developmental and epileptic encephalopathy 83EnrichmentUGP20.80
1271Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I10.80
1272Mitochondrial complex iv deficiency, nuclear type 21EnrichmentCOXFA40.80
1273Mitochondrial dna depletion syndrome 18EnrichmentSLC25A210.80
1274Methylmalonic acidemia due to transcobalamin receptor defectEnrichmentCD3200.80
1275Mitochondrial complex iv deficiency, nuclear type 15EnrichmentCOX8A0.80
1276Leukoencephalopathy, progressive, infantile-onset, with or without deafnessEnrichmentKARS10.80
1277Developmental and epileptic encephalopathy 39EnrichmentSLC25A120.80
1278Bone marrow failure and diabetes mellitus syndromeEnrichmentDUT0.80
1279Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosisEnrichmentNMNAT10.80
1280Auriculocondylar syndrome 2bEnrichmentPLCB40.80
1281Autosomal recessive optic atrophy, opa7 typeEnrichmentTMEM126A0.80
1282Skin melanomaEnrichmentSLC45A20.80
1283Anemia, sideroblastic, 5EnrichmentHSCB0.80
1284Maple syrup urine disease, type ibEnrichmentBCKDHB0.80
1285Neurodegeneration, childhood-onset, with progressive microcephalyEnrichmentDTYMK0.80
1286Man2b2-cdgEnrichmentMAN2B20.80
1287Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2EnrichmentATP5F1B0.80
1288Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT70.80
1289Neu-laxova syndrome 2EnrichmentPSAT10.80
1290Charcot-marie-tooth disease, recessive intermediate dEnrichmentCOX6A10.80
1291Variegate porphyria, childhood-onsetEnrichmentPPOX0.80
1292Long qt syndrome 15EnrichmentCALM20.80
1293Immunodeficiency 114, folate-responsiveEnrichmentSLC19A10.80
1294Mitochondrial complex i deficiency, nuclear type 39EnrichmentNDUFB70.80
1295AmyloidosisEnrichmentTTR0.80
1296Thrombocytopenia 13, syndromicEnrichmentGALE0.80
1297Leber-like hereditary optic neuropathy, autosomal recessive 2EnrichmentNDUFS20.80
1298Lipodystrophy, familial partial, type 8EnrichmentADRA2A0.80
1299Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM20.80
1300Muggenthaler-chowdhury-chioza syndromeEnrichmentHYAL20.80
1301Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromeEnrichmentHYAL20.80
1302Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defectEnrichmentSCO20.80
1303Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR30.80
1304Fibrillary astrocytomaEnrichmentIDH20.80
1305Pancreatic insufficiency-anemia-hyperostosis syndromeEnrichmentCOX4I20.80
1306Pancreatic triacylglycerol lipase deficiencyEnrichmentPNLIP0.80
1307Diazoxide-resistant focal hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.80
1308Acute myocardial infarctionEnrichmentIDH20.80
1309Gestational diabetesEnrichmentGCK0.80
1310Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B0.80
1311Catechol-o-methyltransferase activity, variation inEnrichmentCOMT0.80
1312Progressive cavitating leukoencephalopathyEnrichmentNDUFV20.80
1313X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeEnrichmentRPL100.80
1314Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS0.80
1315Congenital vitamin k-dependent coagulation factors deficiencyEnrichmentVKORC10.80
1316Methylmalonic aciduria, cbld typeEnrichmentMMADHC0.80
1317Hereditary hypercarotenemia and vitamin a deficiencyEnrichmentBCO10.80
1318Carcinoid syndromeEnrichmentSDHD0.80
1319Congenital disorder of glycosylation type 1ee with or without immunodeficiencyEnrichmentMAN2B20.80
1320Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD0.80
1321Autosomal dominant spastic ataxiaEnrichmentMT-CO30.80
1322Renal tubulopathy-encephalopathy-liver failure syndromeEnrichmentBCS1L0.80
1323Pompe disease, late-onsetEnrichmentGAA0.80
1324Minimal pigment oculocutaneous albinism type 1EnrichmentTYR0.80
1325Glycogen storage disease due to glucose-6-phosphatase deficiency type ibEnrichmentSLC37A40.80
1326Congestive heart failureEnrichmentABCC80.80
1327Pure red-cell aplasiaEnrichmentRPS260.80
1328Genetic lipodystrophyEnrichmentEPHX10.80
1329Autosomal recessive secondary polycythemia not associated with vhl geneEnrichmentBPGM0.80
1330Spondyloepimetaphyseal dysplasia with joint laxityEnrichmentB3GALT60.80
1331Xeroderma pigmentosum group dEnrichmentERCC20.80
1332Sporadic hemiplegic migraineEnrichmentCACNA1A0.80
1333Inherited metabolic disorderEnrichmentTKFC0.80
1334Osteochondritis dissecansEnrichmentACAN0.80
1335Atypical timothy syndromeEnrichmentCACNA1C0.80
1336Epilepsy with myoclonic absencesEnrichmentSLC2A10.80
1337Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D0.80
1338Pulmonary alveolar proteinosisEnrichmentMARS10.80
1339Diamond-blackfan anemia 22EnrichmentRPL170.80
1340Disorder of ornithine metabolismEnrichmentOTC0.80
1341Hereditary multiple exostosesEnrichmentEXT10.80
1342Homocystinuria without methylmalonic aciduriaEnrichmentMTRR0.80
1343X-linked sideroblastic anemia with ataxiaEnrichmentABCB70.80
1344Intermediate dend syndromeEnrichmentKCNJ110.80
1345HyperlysinemiaEnrichmentAASS0.80
1346Neurometabolic disorder due to serine deficiencyEnrichmentPSAT10.80
1347Maternal riboflavin deficiencyEnrichmentSLC52A10.80
1348Monostotic fibrous dysplasiaEnrichmentGNAS0.80
1349Familial acute necrotizing encephalopathyEnrichmentRANBP20.80
1350Glycogen storage disease type 1 due to slc37a4 mutationEnrichmentSLC37A40.80
1351Timothy syndrome type 2EnrichmentCACNA1C0.80
1352Severe primary trimethylaminuriaEnrichmentFMO30.80
1353Hereditary amyloidosisEnrichmentTTR0.80
1354Hyperammonemic encephalopathy due to carbonic anhydrase va deficiencyEnrichmentCA5A0.80
1355X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeEnrichmentPRPS10.80
1356Suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduriaEnrichmentSUCLG10.80
1357Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeEnrichmentSLC19A30.80
1358Hepatoerythropoietic porphyriaEnrichmentUROD0.80
1359Hypopigmentation-punctate palmoplantar keratoderma syndromeEnrichmentENPP10.80
1360X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeEnrichmentRPL100.80
1361Xylt1-congenital disorder of glycosylationEnrichmentXYLT10.80
1362Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndromeEnrichmentEXTL30.80
1363Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuriaEnrichmentPAH0.80
1364Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A0.80
1365Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexesEnrichmentNDUFB70.80
1366Attrv30m amyloidosisEnrichmentTTR0.80
1367Phakomatosis cesiomarmorataEnrichmentGNA110.80
1368Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiencyEnrichmentPSPH0.80
1369Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.80
1370Male infertility due to obstructive azoospermiaEnrichmentPGK10.80
1371Intestinal polyposis syndromeEnrichmentSTK110.80
1372Hyperinsulinism due to ucp2 deficiencyEnrichmentUCP20.80
1373Kaposiform hemangioendotheliomaEnrichmentGNA140.80
1374Maternally-inherited spastic paraplegiaEnrichmentMT-ATP60.80
1375Multiple system atrophy, parkinsonian typeEnrichmentCOQ20.80
1376Mazabraud syndromeEnrichmentGNAS0.80
1377Methylmalonic aciduria and homocystinuriaEnrichmentMMACHC0.80
1378Pycr2-related microcephaly-progressive leukoencephalopathyEnrichmentPYCR20.80
1379Timothy syndrome type 1EnrichmentCACNA1C0.80
1380Short stature-advanced bone age-early-onset osteoarthritis syndromeEnrichmentACAN0.80
1381Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B0.80
1382Autosomal recessive hyperinsulinism due to sur1 deficiencyEnrichmentABCC80.80
1383Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A10.80
1384Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeEnrichmentQARS10.80
1385Cacna1c-related disordersEnrichmentCACNA1C0.80
1386Letrozole toxicityEnrichmentCYP2A60.80
1387Hyal2 deficiencyEnrichmentHYAL20.80
1388Hypopigmentation of the skinEnrichmentTYR0.80
13891p21.3 microdeletion syndromeEnrichmentDPYD0.80
1390Autosomal dominant complex spastic paraplegia type 9bEnrichmentALDH18A10.80
1391Benign paroxysmal torticollis of infancyEnrichmentCACNA1A0.80
1392Primary bone dysplasia with multiple joint dislocationsEnrichmentSLC35B20.80
1393Citrullinemia type iiEnrichmentSLC25A130.80
1394Attrv122i amyloidosisEnrichmentTTR0.80
1395Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.80
1396Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ110.80
1397Orofacial cleft 1EnrichmentACSS2, HKDC1, PHYH0.79
1398Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B, SCO2, TYMP0.79
1399Body mass index quantitative trait locus 11EnrichmentADCY3, DDHD2, ENPP1, GLDC, GNAS, MT-CYB, POMC, PPARG, SDC3, UCP2, UCP30.78
1400Hydrops fetalis, nonimmuneEnrichmentCTSA, DHCR24, NEU10.76
1401Multiple sclerosisEnrichmentCYP27B1, NR1H30.74
1402Enchondromatosis, multiple, ollier typeEnrichmentIDH1, IDH20.74
1403Alzheimer disease 2EnrichmentAPOE, NOS30.74
1404Mucopolysaccharidosis, type ivaEnrichmentGALNS, IDUA0.74
1405Variegate porphyriaEnrichmentB4GALT3, PPOX0.74
1406Kearns-sayre syndromeEnrichmentMT-ATP8, RRM2B0.74
1407Vitamin d-dependent rickets, type 2aEnrichmentPRSS1, VDR0.74
1408Megalencephalic leukoencephalopathy with subcortical cysts 1EnrichmentGSTT2, GSTT2B0.74
1409Liver failure, infantile, transientEnrichmentLARS1, MMUT0.74
1410Mitochondrial complex iii deficiency, nuclear type 4EnrichmentCOX10, UQCRQ0.74
1411Pontocerebellar hypoplasia, type 2dEnrichmentPCCA, SEPSECS0.74
1412Rubinstein-taybi syndrome 2EnrichmentEP300, PANK20.74
1413Transient neonatal diabetes mellitusEnrichmentABCC8, KCNJ110.74
1414HemangiomaEnrichmentPTEN, RPL50.74
1415Familial glucocorticoid deficiencyEnrichmentNNT, STAR0.74
1416Developmental and epileptic encephalopathy 1EnrichmentCAD, ITPA, MDH2, SLC25A12, SLC2A1, SYNJ10.70
1417Congenital myopathy 4a, autosomal dominantEnrichmentHACD1, MTM10.69
1418Corpus callosum, agenesis ofEnrichmentCREBBP, MED120.69
1419Isolated corpus callosum agenesisEnrichmentCREBBP, MED120.69
1420Rare genetic intellectual disabilityEnrichmentCREBBP, EP3000.69
1421Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP, MED120.69
1422Currarino syndromeEnrichmentHPGD0.69
1423Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentALB0.69
1424Isolated growth hormone deficiency, type iiEnrichmentMED130.69
1425Hypertriglyceridemia 1EnrichmentAPOA50.69
1426Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentACADVL0.69
1427Gaucher disease, type iEnrichmentGBA10.69
1428Trichohepatoenteric syndrome 1EnrichmentAGK0.69
1429Smith-lemli-opitz syndromeEnrichmentDHCR70.69
1430Glaucoma 3, primary infantile, bEnrichmentCYP1B10.69
1431Lipodystrophy, familial partial, type 3EnrichmentPPARG0.69
1432Amme complexEnrichmentACSL40.69
1433Muscular dystrophy, congenital, megaconial typeEnrichmentCHKB0.69
1434Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R20.69
1435Charcot-marie-tooth disease, demyelinating, type 4b2EnrichmentSBF20.69
1436Malonyl-coa decarboxylase deficiencyEnrichmentMLYCD0.69
1437Diarrhea 7, protein-losing enteropathy typeEnrichmentDGAT10.69
1438EnophthalmosEnrichmentCSNK2B0.69
1439SyndactylyEnrichmentCSNK2B0.69
1440Charcot-marie-tooth disease type 4b2EnrichmentSBF20.69
1441Cerebrovascular diseaseEnrichmentPIK3CA0.69
1442Blood platelet diseaseEnrichmentCD360.69
1443Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentACADM0.69
1444Familial cerebral cavernous malformationsEnrichmentPIK3CA0.69
1445Cerebral malariaEnrichmentCD360.69
1446Transposition of the great arteriesEnrichmentCERS10.69
1447GliomaEnrichmentPTEN0.69
1448Isolated congenitally uncorrected transposition of the great arteriesEnrichmentMED13L0.69
1449Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentMT-CO1, MT-ND1, MT-ND40.69
1450Autosomal recessive non-syndromic intellectual disabilityEnrichmentAIMP1, CHKA, EEFSEC, HNMT, IMPA1, MBOAT7, MED23, MED25, NDST1, SARS1, TECR, TPR0.68
1451Prostate cancerEnrichmentPIK3CA, PTEN, SRD5A20.66
1452Hydrocephalus, congenital, 1EnrichmentCDK8, MED120.65
1453Perrault syndrome 1EnrichmentGGPS1, HSD17B40.65
1454Nephrotic syndromeEnrichmentAGXT, ATIC, COQ2, COQ8B, GLA, NUP93, PDSS2, PLCE1, SGPL10.62
1455Cataract 44EnrichmentAGK, LSS0.61
1456Developmental dysplasia of the hip 1EnrichmentAKR1C1, PSMC30.61
1457Klippel-trenaunay-weber syndromeEnrichmentGNAQ, PIK3CA0.61
1458Myopathy, centronuclear, 1EnrichmentDNM2, MTMR140.61
1459Desbuquois dysplasia 1EnrichmentCSGALNACT1, XYLT10.61
1460Albinism, ocular, type iEnrichmentTYR, TYRP10.61
1461Deafness, nonsyndromic sensorineural, mitochondrialEnrichmentMT-CO1, MT-ND10.61
1462AnxietyEnrichmentGPHN, HMBS0.61
1463Parkinson disease 6, autosomal recessive early-onsetEnrichmentMT-ND5, MT-ND60.61
1464Mitochondrial dna depletion syndrome 1EnrichmentSCO2, TYMP0.61
1465Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR1, SUMF10.61
1466PancytopeniaEnrichmentRPL17, TCN20.61
1467Megaloblastic anemiaEnrichmentAMN, CUBN0.61
1468Lipid metabolism disorderEnrichmentAPOE, LDLR0.61
1469Patent ductus arteriosusEnrichmentINPP5E, PSMC30.61
1470Early myoclonic encephalopathyEnrichmentADSL, SLC25A220.61
1471Breast adenocarcinomaEnrichmentAKT1, PIK3CA0.61
1472Sporadic pheochromocytoma/secreting paragangliomaEnrichmentSDHB, SDHD0.61
1473Non-immune hydrops fetalisEnrichmentCTSA, DHCR24, NEU10.60
1474Amyloidosis, hereditary systemic 2EnrichmentAPOA10.60
1475Dementia, lewy bodyEnrichmentGBA10.60
1476Niemann-pick disease, type c1EnrichmentSMPD10.60
1477Coach syndrome 1EnrichmentINPP5E0.60
1478Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPNPLA60.60
1479Congenital myopathy 3 with rigid spineEnrichmentHMGCS10.60
1480Macrocephaly/autism syndromeEnrichmentPTEN0.60
1481AmblyopiaEnrichmentGALC0.60
1482Congenital diarrhea 7 with exudative enteropathyEnrichmentDGAT10.60
1483Familial woolly hair syndromeEnrichmentLIPH0.60
1484Niemann-pick diseaseEnrichmentSMPD10.60
1485PseudohermaphroditismEnrichmentHSD17B30.60
1486Juvenile glaucomaEnrichmentCYP1B10.60
1487Acute megakaryocytic leukemiaEnrichmentPTEN0.60
1488DementiaEnrichmentGBA10.60
1489Joubert syndrome with ocular defectEnrichmentINPP5E0.60
1490Diffuse cutaneous systemic sclerosisEnrichmentCAV10.60
1491Sensory peripheral neuropathyEnrichmentSPTLC30.60
1492Migraine with or without aura 1EnrichmentCACNA1A, MT-ND1, PPOX0.60
1493OsteochondrodysplasiaEnrichmentGALNS, INPP5E, SLC26A20.60
1494Diabetes mellitusEnrichmentGCK, INS, KCNJ110.60
1495Presynaptic congenital myasthenic syndromesEnrichmentAGRN, CHAT, SNAP250.60
1496Beckwith-wiedemann syndromeEnrichmentGALC, SPTLC10.58
1497Parkinson's diseaseEnrichmentGBA1, PSAP0.54
1498Dyskeratosis congenita, autosomal dominant 1EnrichmentINPP4A0.54
1499Glaucoma, primary open angleEnrichmentCYP1B10.54
1500Hemihyperplasia, isolatedEnrichmentPIK3CA0.54
1501Pierre robin syndromeEnrichmentMED13L0.54
1502Renal tubular dysgenesisEnrichmentAGT0.54
1503Anterior segment dysgenesis 5EnrichmentCYP1B10.54
1504Double outlet right ventricleEnrichmentCERS10.54
1505Limited sclerodermaEnrichmentCAV10.54
1506Lung squamous cell carcinomaEnrichmentPIK3CA0.54
1507Cleft lip with or without cleft palateEnrichmentPLEKHA50.54
1508Spinocerebellar ataxia 29EnrichmentITPR10.53
1509Charcot-marie-tooth disease, demyelinating, type 1aEnrichmentMT-ATP60.53
1510Gilles de la tourette syndromeEnrichmentHDC0.53
1511Leiomyoma, uterineEnrichmentFH0.53
1512Peutz-jeghers syndromeEnrichmentSTK110.53
1513Exostoses, multiple, type iiEnrichmentEXT20.53
1514Multiple system atrophy 1EnrichmentCOQ20.53
1515Wagner vitreoretinopathyEnrichmentVCAN0.53
1516Marsili syndromeEnrichmentTHTPA0.53
1517Maturity-onset diabetes of the young, type 1EnrichmentGCK0.53
1518Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentMAEA0.53
1519Chromosome 5q deletion syndromeEnrichmentRPS140.53
1520Pseudohypoparathyroidism, type iaEnrichmentGNAS0.53
1521Major affective disorder 1EnrichmentTPH20.53
1522Hyperekplexia 1EnrichmentGPHN0.53
1523Albinism, oculocutaneous, type iiiEnrichmentTYRP10.53
1524Apolipoprotein c-ii deficiencyEnrichmentAPOC20.53
1525Hyperprolinemia, type iEnrichmentPRODH0.53
1526Methemoglobinemia and ambiguous genitaliaEnrichmentCYB5A0.53
1527Amelogenesis imperfecta, type igEnrichmentPRKAR1A0.53
1528Molybdenum cofactor deficiency, type b1EnrichmentMOCS20.53
1529Pituitary adenoma 4, acth-secretingEnrichmentGNAI20.53
1530Mucopolysaccharidosis, type iiicEnrichmentHGSNAT0.53
1531Glycogen storage disease 0, liverEnrichmentGYS20.53
1532Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentCPS10.53
1533Antley-bixler syndrome with genital anomalies and disordered steroidogenesisEnrichmentPOR0.53
1534Hyperprolinemia, type iiEnrichmentALDH4A10.53
1535Galactosemia iiEnrichmentGALK10.53
15363-methylcrotonyl-coa carboxylase 1 deficiencyEnrichmentMCCC10.53
1537Glutamate formiminotransferase deficiencyEnrichmentFTCD0.53
1538Hyperphenylalaninemia, bh4-deficient, cEnrichmentQDPR0.53
1539Fructose intolerance, hereditaryEnrichmentALDOB0.53
1540Phosphoenolpyruvate carboxykinase deficiency, mitochondrialEnrichmentPCK20.53
1541Orofaciodigital syndrome iiEnrichmentNEK10.53
1542Thiamine-responsive megaloblastic anemia syndromeEnrichmentSLC19A20.53
1543Glycogen storage disease viiEnrichmentPFKM0.53
1544Cutis marmorata telangiectatica congenitaEnrichmentGNA110.53
1545Urofacial syndrome 1EnrichmentHPSE20.53
1546N-acetylglutamate synthase deficiencyEnrichmentNAGS0.53
1547Deafness, sensorineural, autosomal-mitochondrial typeEnrichmentMT-ND10.53
1548Immunoerythromyeloid hypoplasiaEnrichmentAK20.53
1549Reticular dysgenesisEnrichmentAK20.53
1550Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.53
1551Mucopolysaccharidosis, type iiibEnrichmentNAGLU0.53
1552Canavan diseaseEnrichmentASPA0.53
1553Omodysplasia 1EnrichmentGPC60.53
1554Glycogen storage disease ixa1EnrichmentPHKA20.53
1555Skin/hair/eye pigmentation, variation in, 1EnrichmentOCA20.53
1556Galactosemia iEnrichmentGALT0.53
1557Porphyria, congenital erythropoieticEnrichmentUROS0.53
1558Hyperphenylalaninemia, bh4-deficient, dEnrichmentPCBD10.53
1559Schizophrenia 4EnrichmentPRODH0.53
1560Autism x-linked 6EnrichmentTMLHE0.53
1561Dystonia 9EnrichmentSLC2A10.53
1562Polymyoclonus, infantileEnrichmentSDHA0.53
1563Timothy syndromeEnrichmentCACNA1C0.53
1564Encephalopathy, ethylmalonicEnrichmentETHE10.53
1565Tyrosinemia, type iEnrichmentFAH0.53
1566Transcobalamin ii deficiencyEnrichmentTCN20.53
1567Alzheimer disease 3EnrichmentAPOE0.53
1568Thyroid hormone metabolism, abnormal, 1EnrichmentSECISBP20.53
15693mc syndrome 2EnrichmentSLC26A20.53
1570Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B0.53
1571Ehlers-danlos syndrome, musculocontractural type, 1EnrichmentCHST140.53
1572Tyrosinemia, type iiiEnrichmentHPD0.53
1573Microcephaly, amish typeEnrichmentSLC25A190.53
1574Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B0.53
1575Alternating hemiplegia of childhood 1EnrichmentCACNA1A0.53
1576Leber congenital amaurosis 9EnrichmentNMNAT10.53
1577PseudopseudohypoparathyroidismEnrichmentGNAS0.53
1578Diamond-blackfan anemia 6EnrichmentRPL50.53
1579Diamond-blackfan anemia 9EnrichmentRPS100.53
1580Mitochondrial dna depletion syndrome 2EnrichmentTK20.53
1581Citrin deficiency, neonatal or infantile onsetEnrichmentSLC25A130.53
1582Corneal dystrophy, congenital stromalEnrichmentDCN0.53
1583Cerebral creatine deficiency syndrome 2EnrichmentGAMT0.53
1584Thyroid carcinoma, hurthle cellEnrichmentNDUFA130.53
1585Glutamine deficiency, congenitalEnrichmentGLUL0.53
1586Glycine n-methyltransferase deficiencyEnrichmentGNMT0.53
1587Glut1 deficiency syndrome 1EnrichmentSLC2A10.53
1588Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.53
1589Porphyria cutanea tarda, type iEnrichmentUROD0.53
1590Protoporphyria, erythropoietic, 1EnrichmentFECH0.53
1591Leukoencephalopathy, cystic, without megalencephalyEnrichmentNDUFA20.53
1592Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B0.53
1593Osteogenesis imperfecta, type xvEnrichmentGBE10.53
1594Diamond-blackfan anemia 5EnrichmentRPL35A0.53
1595HawkinsinuriaEnrichmentHPD0.53
1596Diaphyseal medullary stenosis with malignant fibrous histiocytomaEnrichmentMTAP0.53
1597Ovarian dysgenesis 3EnrichmentMLX0.53
1598Bone marrow failure syndrome 2EnrichmentGCK0.53
1599Mononeuropathy of the median nerve, mildEnrichmentTTR0.53
1600Lethal congenital contracture syndrome 8EnrichmentADCY60.53
1601Glycogen storage disease xvEnrichmentGYG10.53
1602Adenine phosphoribosyltransferase deficiencyEnrichmentAPRT0.53
1603Neutropenia, severe congenital, 4, autosomal recessiveEnrichmentG6PC30.53
1604Orthostatic hypotension 1EnrichmentDBH0.53
1605Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B0.53
1606Homocystinuria-megaloblastic anemia, cble typeEnrichmentMTRR0.53
1607Retinitis pigmentosa 73EnrichmentHGSNAT0.53
1608Hypoglycemia, leucine-inducedEnrichmentABCC80.53
1609Methionine adenosyltransferase i/iii deficiencyEnrichmentMAT1A0.53
1610Glutaric aciduria iiiEnrichmentETFA0.53
1611Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT0.53
1612Lipase deficiency, combinedEnrichmentLPL0.53
1613Hyperphosphatasia with impaired intellectual development syndrome 6EnrichmentPYURF0.53
1614Developmental and epileptic encephalopathy 50EnrichmentCAD0.53
1615Charcot-marie-tooth disease, axonal, type 2vEnrichmentNAGLU0.53
1616Congenital disorder of glycosylation, type itEnrichmentPGM10.53
1617Inosine triphosphatase deficiencyEnrichmentITPA0.53
1618Mucopolysaccharidosis, type viiEnrichmentGUSB0.53
1619Angioma, tuftedEnrichmentGNA140.53
1620Mitochondrial complex iii deficiency, nuclear type 9EnrichmentUQCC30.53
1621Dyskeratosis congenita, autosomal recessive 5EnrichmentRTEL10.53
1622Maturity-onset diabetes of the young, type 10EnrichmentINS0.53
1623Intellectual developmental disorder, autosomal dominant 43EnrichmentQARS10.53
1624Night blindness, congenital stationary, type 1hEnrichmentGNB30.53
1625Aromatic l-amino acid decarboxylase deficiencyEnrichmentDDC0.53
1626Schwartz-jampel syndrome, type 1EnrichmentHSPG20.53
1627Dyskeratosis congenita, autosomal recessive 2EnrichmentRMND5B0.53
1628Diabetes mellitus, transient neonatal, 2EnrichmentABCC80.53
1629Pyruvate dehydrogenase e1-beta deficiencyEnrichmentPDHB0.53
1630Albinism, oculocutaneous, type iaEnrichmentTYR0.53
1631Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP40.53
1632Methylmalonate semialdehyde dehydrogenase deficiencyEnrichmentALDH6A10.53
1633Deafness, autosomal dominant 64EnrichmentB3GNT40.53
1634Glycogen storage disease iiiEnrichmentAGL0.53
1635Polyglucosan body myopathy 2EnrichmentGYG10.53
1636Long qt syndrome 14EnrichmentCALM10.53
1637Pyruvate dehydrogenase e3-binding protein deficiencyEnrichmentPDHX0.53
1638Houge-janssens syndrome 1EnrichmentPPP2R5D0.53
1639Skin/hair/eye pigmentation, variation in, 11EnrichmentTYRP10.53
1640Bainbridge-ropers syndromeEnrichmentGADL10.53
1641Diamond-blackfan anemia 12EnrichmentRPL150.53
1642Pontocerebellar hypoplasia, type 7EnrichmentMINPP10.53
1643Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentPOR0.53
1644Peroxisome biogenesis disorder 4bEnrichmentGNMT0.53
1645Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS0.53
1646Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2EnrichmentNAXD0.53
1647Oculocutaneous albinism, type viiiEnrichmentDCT0.53
1648D-2-hydroxyglutaric aciduria 1EnrichmentD2HGDH0.53
1649Long qt syndrome 8EnrichmentCACNA1C0.53
1650Hypobetalipoproteinemia, familial, 1EnrichmentAPOB0.53
1651Developmental and epileptic encephalopathy 82EnrichmentGOT20.53
1652TrimethylaminuriaEnrichmentFMO30.53
1653Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentNAXE0.53
1654Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B0.53
1655Phosphoribosylaminoimidazole carboxylase deficiencyEnrichmentPAICS0.53
1656Multiple mitochondrial dysfunctions syndrome 5EnrichmentISCA10.53
1657HyperproinsulinemiaEnrichmentINS0.53
1658Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaEnrichmentMTHFD10.53
1659Spastic paraplegia 73, autosomal dominantEnrichmentGPT20.53
1660Deafness, congenital, and adult-onset progressive leukoencephalopathyEnrichmentKARS10.53
1661Multiple mitochondrial dysfunctions syndrome 7EnrichmentGCSH0.53
1662Amyotrophic lateral sclerosis 28EnrichmentLRP120.53
1663Epidermolysis bullosa, junctional 5a, intermediateEnrichmentGALK10.53
1664Congenital disorder of deglycosylation 2EnrichmentMAN2C10.53
1665Developmental dysplasia of the hip 3EnrichmentLRP10.53
1666Birk-aharoni syndromeEnrichmentPSMC10.53
1667Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH0.53
1668Spastic paraplegia 70, autosomal recessiveEnrichmentMARS10.53
1669Nephrotic syndrome, type 17EnrichmentNUP850.53
1670Glycine encephalopathy 2EnrichmentAMT0.53
1671Miller syndromeEnrichmentDHODH0.53
1672Spastic ataxia 10, autosomal recessiveEnrichmentCOQ40.53
1673Spermatogenic failure 89EnrichmentAK90.53
1674Developmental and epileptic encephalopathy 88EnrichmentMDH10.53
1675Mitochondrial complex iv deficiency, nuclear type 19EnrichmentPET1170.53
1676Mitochondrial complex i deficiency, nuclear type 10EnrichmentNDUFAF20.53
1677Mitochondrial complex i deficiency, nuclear type 15EnrichmentNDUFAF40.53
1678Multiple mitochondrial dysfunctions syndrome 10EnrichmentCIAO10.53
1679Thyroid dyshormonogenesis 2aEnrichmentTPO0.53
1680Deafness, autosomal recessive 89EnrichmentKARS10.53
1681Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.53
1682Vertebral, cardiac, renal, and limb defects syndrome 1EnrichmentHAAO0.53
1683Leukodystrophy, hypomyelinating, 17EnrichmentAIMP20.53
1684Autosomal recessive hypophosphatemic ricketsEnrichmentENPP10.53
1685Osteopetrosis, autosomal recessive 3EnrichmentCA20.53
1686Mitochondrial complex i deficiency, nuclear type 14EnrichmentNDUFA110.53
1687Cerebral creatine deficiency syndromeEnrichmentGAMT0.53
1688Ovarian cancer 1EnrichmentBRIP10.53
1689Melanoma, cutaneous malignant 8EnrichmentTYR0.53
1690Myopia 6EnrichmentSCO20.53
1691Protoporphyria, erythropoietic, x-linkedEnrichmentALAS20.53
1692Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A10.53
1693Mitochondrial complex i deficiency, nuclear type 12EnrichmentNDUFA10.53
1694Retinitis pigmentosa 36EnrichmentCYGB0.53
1695Autosomal dominant dyskeratosis congenita 4EnrichmentRTEL10.53
1696Developmental and epileptic encephalopathy 16EnrichmentGLUL0.53
1697Kala-azar 2EnrichmentGSTP10.53
1698Mitochondrial complex i deficiency, nuclear type 36EnrichmentNDUFC20.53
1699Glycogen storage disease 0, muscleEnrichmentGYS10.53
1700Molybdenum cofactor deficiency, type cEnrichmentGPHN0.53
1701Glycogen storage disease xiiEnrichmentALDOA0.53
1702Charcot-marie-tooth disease type 4kEnrichmentSURF10.53
1703Spastic paraplegia 64, autosomal recessiveEnrichmentENTPD10.53
1704Diffuse midline glioma, h3 k27m-mutantEnrichmentBRIP10.53
1705Acromesomelic dysplasia 4EnrichmentPRKG20.53
1706Familial apolipoprotein c-ii deficiencyEnrichmentAPOC20.53
1707Catel-manzke syndromeEnrichmentKYNU0.53
1708Neurodevelopmental disorder with spastic paraplegia and microcephalyEnrichmentGPT20.53
1709Hereditary combined deficiency of vitamin k-dependent clotting factorsEnrichmentVKORC10.53
1710Transaldolase deficiencyEnrichmentTALDO10.53
1711Autosomal dominant hypocalcemiaEnrichmentGNA110.53
1712Dopamine beta-hydroxylase deficiencyEnrichmentDBH0.53
1713Charcot-marie-tooth disease type 1aEnrichmentMT-ATP60.53
1714Mitochondrial complex iv deficiency, nuclear type 11EnrichmentCOX200.53
1715Dystonia, dopa-responsive, due to sepiapterin reductase deficiencyEnrichmentSPR0.53
1716OligodendrogliomaEnrichmentIDH20.53
1717Seizures, scoliosis, and macrocephaly/microcephaly syndromeEnrichmentEXT20.53
1718AcrodysostosisEnrichmentPRKAR1A0.53
1719PseudohypoparathyroidismEnrichmentGNAS0.53
1720Skraban-deardorff syndromeEnrichmentWDR260.53
1721Cerebral creatine deficiency syndrome 3EnrichmentGATM0.53
1722Developmental and epileptic encephalopathy 35EnrichmentITPA0.53
1723Body mass index quantitative trait locus 19EnrichmentADCY30.53
1724Temtamy preaxial brachydactyly syndromeEnrichmentCHSY10.53
1725Ocular melanomaEnrichmentPLCB40.53
1726Diabetes mellitus, permanent neonatal, 3EnrichmentABCC80.53
1727Diabetes mellitus, permanent neonatal, 4EnrichmentINS0.53
1728Glaucoma, primary closed-angleEnrichmentSLC19A10.53
1729Congenital hemolytic anemiaEnrichmentG6PD0.53
1730Thiamine metabolism dysfunction syndrome 4EnrichmentSLC25A190.53
1731Anemia, congenital, nonspherocytic hemolytic, 3EnrichmentAK10.53
1732Spastic paraplegia 45, autosomal recessiveEnrichmentNT5C20.53
1733HypophosphatasiaEnrichmentOCA20.53
1734Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiencyEnrichmentPOR0.53
1735Trypsinogen deficiencyEnrichmentPRSS10.53
1736Mitochondrial complex iv deficiency, nuclear type 12EnrichmentPET1000.53
1737HypobetalipoproteinemiaEnrichmentAPOB0.53
1738Interstitial lung and liver diseaseEnrichmentMARS10.53
1739Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3EnrichmentRTEL10.53
1740Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B0.53
1741HypopituitarismEnrichmentGNAI20.53
1742Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D0.53
1743Leber congenital amaurosis 14EnrichmentLRAT0.53
1744Auroneurodental syndromeEnrichmentHYAL30.53
1745Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB50.53
1746Diamond-blackfan anemia 16EnrichmentRPL270.53
1747Charcot-marie-tooth disease, demyelinating, type 4kEnrichmentSURF10.53
1748Spermatogenic failure 22EnrichmentFAHD10.53
1749AcromegalyEnrichmentAIP0.53
1750Nonsyndromic congenital nail disorderEnrichmentSLC25A160.53
1751Cytochrome p450 oxidoreductase deficiencyEnrichmentPOR0.53
1752Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD0.53
175317q24.2 microdeletion syndromeEnrichmentPSMD120.53
1754Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationEnrichmentMTHFS0.53
1755Mitochondrial complex iv deficiency, nuclear type 22EnrichmentCOX160.53
1756Primary trimethylaminuriaEnrichmentFMO30.53
1757Diamond-blackfan anemia 17EnrichmentRPS270.53
1758Autosomal recessive progressive external ophthalmoplegiaEnrichmentTK20.53
17599q33.3q34.11 microdeletion syndromeEnrichmentSTXBP10.53
1760Autosomal recessive sideroblastic anemiaEnrichmentHSPA90.53
1761Anaplastic oligodendrogliomaEnrichmentIDH20.53
1762Spinocerebellar ataxia 45EnrichmentFH0.53
1763Mitochondrial complex iv deficiency, nuclear type 4EnrichmentSCO10.53
1764Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL0.53
1765Dystonia 28, childhood-onsetEnrichmentENPP10.53
1766Dyskeratosis congenita, digenicEnrichmentTYMS0.53
1767Cardiomyopathy, dilated, 2cEnrichmentPPCS0.53
1768Nuclear type mitochondrial complex i deficiencyEnrichmentNDUFV10.53
1769Familial isolated congenital aspleniaEnrichmentRPSA0.53
1770Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS20.53
1771Mitochondrial complex i deficiency, nuclear type 13EnrichmentNDUFA20.53
1772Mitochondrial complex i deficiency, nuclear type 16EnrichmentNDUFAF50.53
1773Houge-janssens syndrome 3EnrichmentPPP2CA0.53
1774Severe congenital neutropenia 4EnrichmentG6PC30.53
1775Isolated anencephalyEnrichmentMTHFR0.53
1776Spastic paraplegia 83, autosomal recessiveEnrichmentHPDL0.53
1777Mitochondrial complex i deficiency, nuclear type 7EnrichmentNDUFV20.53
1778Parkinsonism with polyneuropathyEnrichmentUQCRC10.53
1779Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A0.53
1780Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP40.53
1781Wagner diseaseEnrichmentVCAN0.53
1782GalactosemiaEnrichmentGALT0.53
1783Nad hx dehydratase deficiencyEnrichmentNAXD0.53
1784Arterial calcification of infancyEnrichmentENPP10.53
1785Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2140.53
1786Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS0.53
1787Creatine deficiency disordersEnrichmentGAMT0.53
1788Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS10.53
1789HyperinsulinismEnrichmentKCNJ110.53
1790Premature ovarian failure 23EnrichmentFAHD10.53
1791Paroxysmal dyskinesiaEnrichmentPNKD0.53
1792Mitochondrial dna depletion syndrome 21EnrichmentGUK10.53
1793Glycogen storage disease viiiEnrichmentPHKA20.53
1794Angelman syndrome due to maternal 15q11q13 deletionEnrichmentOCA20.53
1795Pyridoxine-dependent-developmental and epileptic encephalopathyEnrichmentALDH7A10.53
1796CoproporphyriaEnrichmentCPOX0.53
1797Isolated exencephalyEnrichmentMTHFR0.53
1798Null pituitary adenomaEnrichmentAIP0.53
1799Isolated nail anomalyEnrichmentSLC25A160.53
1800X-linked protoporphyriaEnrichmentALAS20.53
1801Diaphyseal medullary stenosis-bone malignancy syndromeEnrichmentMTAP0.53
1802Familial isolated pituitary adenomaEnrichmentAIP0.53
1803Silent pituitary adenomaEnrichmentAIP0.53
1804Autosomal erythropoietic protoporphyriaEnrichmentFECH0.53
1805Multiple system atrophyEnrichmentCOQ20.53
1806Progressive bulbar palsyEnrichmentCACNA1A0.53
1807Erythropoietic protoporphyria, autosomal recessiveEnrichmentFECH0.53
1808Methionine adenosyltransferase deficiencyEnrichmentMAT1A0.53
1809Cerebral visual impairmentEnrichmentGNB10.53
1810Submucosal cleft palateEnrichmentUBB0.53
1811Cleft hard palateEnrichmentUBB0.53
1812GigantismEnrichmentAIP0.53
1813Multiple system atrophy, cerebellar typeEnrichmentCOQ20.53
1814Congenital hypothyroidismEnrichmentDUOX2, SLC5A5, TPO0.52
1815Thyroid cancer, nonmedullary, 2EnrichmentMINPP1, PTEN0.51
1816Thrombophilia due to thrombin defectEnrichmentMTHFR, VKORC10.51
1817Imerslund-grasbeck syndrome 1EnrichmentAMN, CUBN0.51
1818Multiple enchondromatosis, maffucci typeEnrichmentIDH1, IDH20.51
1819ParkinsonismEnrichmentGBA1, MT-ND60.51
1820Follicular thyroid carcinomaEnrichmentMINPP1, PTEN0.51
1821Hemolytic anemiaEnrichmentGPI, PKLR0.51
1822Paroxysmal dystoniaEnrichmentPNKD, SLC2A10.51
1823Endometrial cancerEnrichmentPIK3CA, PTEN0.48
1824HepatoblastomaEnrichmentDHCR7, GBA10.48
1825Nevus, epidermalEnrichmentPIK3CA0.48
1826Glaucoma 3, primary congenital, aEnrichmentCYP1B10.48
1827Squamous cell carcinoma, head and neckEnrichmentPTEN0.48
1828Usher syndrome, type iiiaEnrichmentARSG0.48
1829Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA0.48
1830Dyskeratosis congenita, autosomal dominant 2EnrichmentINPP4A0.48
1831Leukoencephalopathy, brain calcifications, and cystsEnrichmentALOX12B0.48
1832Gallbladder cancerEnrichmentPIK3CA0.48
1833Vesicoureteral refluxEnrichmentMED13L0.48
1834Overgrowth syndromeEnrichmentPIK3R10.48
1835Parkinson disease, late-onsetEnrichmentADH1C, GAMT, GBA1, MT-ND1, PSAP0.47
1836Long qt syndrome 1EnrichmentCACNA1C, CALM1, CALM2, CALM3, ITPR3, SLC2A20.46
1837Hepatocellular carcinomaEnrichmentPIK3CA, VDR0.46
1838Gastroesophageal refluxEnrichmentCHAT0.43
1839Erythrokeratodermia variabilis et progressiva 1EnrichmentKDSR0.43
1840Myopathy, tubular aggregate, 1EnrichmentGGPS10.43
1841Rett syndrome, congenital variantEnrichmentARSJ0.43
1842Perrault syndromeEnrichmentHSD17B40.43
1843CryptorchidismEnrichmentMFSD2A0.43
1844MyocarditisEnrichmentABCD10.43
1845Difference of sex developmentEnrichmentHSD17B30.43
1846Glioma susceptibility 1EnrichmentIDH1, IDH20.43
1847Alternating hemiplegia of childhoodEnrichmentCACNA1A, SLC2A10.43
1848Myeloma, multipleEnrichmentCREBBP, NCOR2, PIK3R2, RXRA0.42
1849Cone dystrophyEnrichmentPITPNM3, SRD5A30.41
1850Autoinflammatory diseaseEnrichmentLPIN2, MVK0.41
1851PheochromocytomaEnrichmentSDHA, SDHB, SDHD0.41
1852Maturity-onset diabetes of the youngEnrichmentABCC8, GCK, INS, KCNJ110.40
1853Charge syndromeEnrichmentEP3000.39
1854Cryptorchidism, unilateral or bilateralEnrichmentMFSD2A0.39
1855Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentPPT10.39
1856Arteriovenous malformationEnrichmentPIK3CA0.39
1857Adult hepatocellular carcinomaEnrichmentPIK3CA0.39
1858Bilateral perisylvian polymicrogyriaEnrichmentPI4KA0.39
1859Limb-girdle muscular dystrophyEnrichmentHMGCR0.39
1860Juvenile amyotrophic lateral sclerosisEnrichmentSPTLC10.39
1861Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, CUBN, MED13L, PTEN, SBF1, SRD5A20.39
1862Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentADA0.39
1863Prune belly syndromeEnrichmentCHRM30.39
1864Mccune-albright syndromeEnrichmentGNAS0.39
1865Type 1 diabetes mellitus 2EnrichmentINS0.39
1866Van der woude syndrome 1EnrichmentCACNA1E0.39
1867Hyperalphalipoproteinemia 1EnrichmentAPOC30.39
1868Larsen syndromeEnrichmentCHST30.39
1869Keratoderma, palmoplantar, with deafnessEnrichmentMT-CO10.39
1870Nijmegen breakage syndromeEnrichmentGCK0.39
1871Dubin-johnson syndromeEnrichmentABCC20.39
1872Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG20.39
1873Mitochondrial complex iv deficiency, nuclear type 5EnrichmentATP5F1A0.39
1874Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS0.39
1875Ichthyosis, congenital, autosomal recessive 1EnrichmentSULT2B10.39
1876Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.39
1877Gillespie syndromeEnrichmentITPR10.39
1878Takayasu arteritisEnrichmentMLX0.39
18793-methylglutaconic aciduria, type iEnrichmentAUH0.39
1880Hypophosphatasia, infantileEnrichmentOCA20.39
1881Geroderma osteodysplasticumEnrichmentPYCR10.39
1882Bietti crystalline corneoretinal dystrophyEnrichmentCYP4V20.39
1883Friedreich ataxiaEnrichmentFXN0.39
1884Glycogen storage disease ixbEnrichmentPHKB0.39
1885Pyruvate carboxylase deficiencyEnrichmentPC0.39
1886Mucopolysaccharidosis, type iiEnrichmentIDS0.39
1887Pituitary hormone deficiency, combined, 2EnrichmentPAH0.39
1888Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR0.39
1889Trichothiodystrophy 1, photosensitiveEnrichmentERCC20.39
1890Lesch-nyhan syndromeEnrichmentHPRT10.39
1891Spinal muscular atrophy, type ivEnrichmentMCCC20.39
1892Anemia, sideroblastic, 1EnrichmentALAS20.39
1893Dihydropyrimidine dehydrogenase deficiencyEnrichmentDPYD0.39
1894Glomerulopathy with fibronectin deposits 2EnrichmentATIC0.39
1895Hyperuricemia, hprt-relatedEnrichmentHPRT10.39
1896Dyskeratosis congenita, x-linkedEnrichmentRTEL10.39
1897Sudden infant death with dysgenesis of the testes syndromeEnrichmentDSE0.39
1898Glut1 deficiency syndrome 2EnrichmentSLC2A10.39
1899Alzheimer disease 4EnrichmentAPOE0.39
1900Cleft soft palateEnrichmentUBB0.39
1901Mitochondrial complex i deficiency, nuclear type 20EnrichmentACAD90.39
1902Leber congenital amaurosis 13EnrichmentGPHN0.39
1903Nephrotic syndrome, type 3EnrichmentPLCE10.39
1904Adiponectin deficiencyEnrichmentADIPOQ0.39
1905Pontocerebellar hypoplasia, type 9EnrichmentAMPD20.39
1906Pituitary adenoma 1, multiple typesEnrichmentAIP0.39
1907Leukodystrophy, hypomyelinating, 2EnrichmentGCDH0.39
1908Developmental and epileptic encephalopathy 13EnrichmentALDH7A10.39
1909Folate malabsorption, hereditaryEnrichmentSLC46A10.39
1910Infantile cerebellar-retinal degenerationEnrichmentACO20.39
1911Uv-sensitive syndrome 2EnrichmentNDUFAF20.39
1912Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2EnrichmentRAB5IF0.39
1913Mitochondrial dna depletion syndrome 3EnrichmentDGUOK0.39
1914Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.39
1915Portal hypertension, noncirrhotic, 1EnrichmentDGUOK0.39
1916Optic atrophy 9EnrichmentACO20.39
1917Retinitis pigmentosa 40EnrichmentATP5ME0.39
1918Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4EnrichmentDGUOK0.39
1919Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentEEFSEC0.39
1920Retinitis pigmentosa 92EnrichmentHKDC10.39
1921Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentQARS10.39
1922Familial adenomatous polyposis 4EnrichmentDHFR0.39
1923Cortical dysplasia, complex, with other brain malformations 5EnrichmentBPHL0.39
1924Mitochondrial complex ii deficiency, nuclear type 2EnrichmentSDHAF10.39
1925Glycosylphosphatidylinositol biosynthesis defect 17EnrichmentGPHN0.39
1926Pontocerebellar hypoplasia, type 16EnrichmentMINPP10.39
1927Mitochondrial complex v deficiency, nuclear type 7EnrichmentATP5PO0.39
1928Neuronopathy, distal hereditary motor, autosomal recessive 9EnrichmentCOQ70.39
1929Mitochondrial complex i deficiency, nuclear type 34EnrichmentNDUFAF80.39
1930Gyrate atrophy of choroid and retinaEnrichmentOAT0.39
1931Renu syndromeEnrichmentSIRT40.39
1932Fanconi syndromeEnrichmentGATM0.39
1933Cutis laxa, autosomal recessive, type ibEnrichmentGBE10.39
1934Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A10.39
1935Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.39
1936Coenzyme q10 deficiency, primary, 7EnrichmentCOQ40.39
1937Cerebroretinal microangiopathy with calcifications and cysts 1EnrichmentPFAS0.39
1938Syndromic x-linked intellectual disability najm typeEnrichmentLDLR0.39
1939Autosomal dominant cutis laxaEnrichmentALDH18A10.39
1940Asparagine synthetase deficiencyEnrichmentASNS0.39
1941Spastic paraplegia 63, autosomal recessiveEnrichmentAMPD20.39
1942Desbuquois dysplasia 2EnrichmentXYLT10.39
1943Testicular germ cell cancerEnrichmentSTK110.39
1944Anaplastic astrocytomaEnrichmentIDH20.39
1945Mitochondrial complex v deficiency, nuclear type 1EnrichmentNDUFS10.39
1946Macrocytic anemiaEnrichmentRPL170.39
1947Mitochondrial complex i deficiency, nuclear type 35EnrichmentNDUFB100.39
1948Gonadal dysgenesisEnrichmentMT-ATP60.39
1949Brain cancerEnrichmentSDHA0.39
19503-methylglutaconic aciduriaEnrichmentAUH0.39
1951Growth hormone secreting pituitary adenomaEnrichmentAIP0.39
1952Mitochondrial complex i deficiency, nuclear type 28EnrichmentNDUFA130.39
1953Aip familial isolated pituitary adenomasEnrichmentAIP0.39
1954Familial porphyria cutanea tardaEnrichmentUROD0.39
1955Arachnoid cystEnrichmentGPHN0.39
1956Coenzyme q10 deficiency, primary, 8EnrichmentCOQ70.39
1957Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS0.39
1958Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentASNS0.39
1959Familial chilblain lupusEnrichmentSAMHD10.39
1960Idiopathic camptocormiaEnrichmentRRM2B0.39
1961Spinocerebellar ataxia, autosomal recessive 29EnrichmentASNS0.39
1962Myelodysplastic syndrome with ring sideroblastsEnrichmentMT-CO10.39
1963Renal cell carcinomaEnrichmentSDHB0.39
1964EnchondromatosisEnrichmentIDH10.39
1965Familial papillary or follicular thyroid carcinomaEnrichmentMINPP10.39
1966Thyroid hemiagenesisEnrichmentPSMD30.39
1967X-linked sideroblastic anemia 1EnrichmentALAS20.39
1968Testicular cancerEnrichmentSTK110.39
1969Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY60.39
1970Polymerase proofreading-related polyposisEnrichmentPOLD10.39
1971Hereditary episodic ataxiaEnrichmentCACNA1A0.39
1972Mucopolysaccharidosis with skin involvementEnrichmentIDS0.39
1973Apc-associated polyposis conditionsEnrichmentSTK110.39
1974Congenital cornea planaEnrichmentKERA0.39
1975West syndromeEnrichmentMDH2, MTHFR, PLCB1, SLC25A12, SLC2A1, STXBP1, SYNJ1, UGDH0.39
1976Developmental and epileptic encephalopathy 14EnrichmentPLCB1, SLC25A220.36
1977Peters-plus syndromeEnrichmentCYP1B10.36
1978Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA0.36
1979Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHAT0.36
1980MelanomaEnrichmentPTEN0.36
1981Primary bone dysplasiaEnrichmentINPP5E0.36
1982Anterior segment dysgenesisEnrichmentCYP1B1, ITPR1, RBP40.36
1983Epilepsy, myoclonic juvenileEnrichmentHSD17B30.33
1984AsthmaEnrichmentALOX50.33
1985Meningioma, familialEnrichmentPTEN0.33
1986Lung non-small cell carcinomaEnrichmentPIK3CA0.33
1987Movement diseaseEnrichmentGBA10.33
1988Uterine corpus cancerEnrichmentPTEN0.33
1989Heritable pulmonary arterial hypertensionEnrichmentCAV10.33
1990Mitochondrial myopathyEnrichmentFDX20.33
1991Myocardial infarctionEnrichmentGCLC, GCLM, LRP8, PSMA60.32
1992RhabdomyosarcomaEnrichmentPTEN, SDHA, SDHC0.32
1993Bladder cancerEnrichmentPIK3CA, PTEN0.31
1994Hirschsprung disease 1EnrichmentABCD1, SREBF10.31
1995Galloway-mowat syndromeEnrichmentNUP107, NUP1330.31
1996NephrocalcinosisEnrichmentAGXT, GRHPR0.31
1997NephrolithiasisEnrichmentAGXT, GRHPR0.31
1998Isolated tracheo-esophageal fistulaEnrichmentBRIP1, GART0.31
1999Septooptic dysplasiaEnrichmentARNT20.30
2000Digeorge syndromeEnrichmentSEC24C0.30
2001Early-onset parkinson's diseaseEnrichmentSYNJ10.30
2002Lip and oral cavity carcinomaEnrichmentPIK3CA0.30
2003Paroxysmal nonkinesigenic dyskinesia 1EnrichmentPNKD0.30
2004Retinitis pigmentosa 91EnrichmentMMACHC0.30
2005Porphyria cutanea tardaEnrichmentUROD0.30
2006Trichorhinophalangeal syndrome, type iiEnrichmentEXT10.30
2007Migraine, familial hemiplegic, 1EnrichmentCACNA1A0.30
2008Chorea, benign hereditaryEnrichmentADCY50.30
2009Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentCYB5R30.30
2010Huntington diseaseEnrichmentSLC2A30.30
2011Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1EnrichmentRAB5IF0.30
2012Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.30
2013Neurodegeneration with brain iron accumulation 1EnrichmentPANK20.30
2014PhenylketonuriaEnrichmentPAH0.30
2015Spinocerebellar ataxia 6EnrichmentCACNA1A0.30
2016Down syndromeEnrichmentMTRR0.30
2017Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentRTEL10.30
2018Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.30
2019Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS0.30
2020Macular degeneration, age-related, 1EnrichmentAPOE0.30
2021Dermatitis, atopicEnrichmentKCNJ110.30
2022Pseudohypoparathyroidism, type ibEnrichmentGNAS0.30
2023Aland island eye diseaseEnrichmentPHKA20.30
2024Infantile sialic acid storage diseaseEnrichmentSLC17A50.30
2025Auriculocondylar syndrome 1EnrichmentPLCB40.30
2026Potocki-shaffer syndromeEnrichmentEXT20.30
2027Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.30
2028Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C0.30
2029ChoroideremiaEnrichmentCYP4V20.30
2030Maturity-onset diabetes of the young, type 3EnrichmentGCK0.30
2031Parkinson disease, mitochondrialEnrichmentADH1C0.30
2032Developmental and epileptic encephalopathy 4EnrichmentSTXBP10.30
2033Carney complex variantEnrichmentPRKAR1A0.30
2034Salla diseaseEnrichmentSLC17A50.30
2035Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.30
2036Anemia, congenital dyserythropoietic, type ivaEnrichmentGCDH0.30
2037Schaaf-yang syndromeEnrichmentOCA20.30
2038Fetal hemoglobin quantitative trait locus 6EnrichmentGCDH0.30
2039Ciliary dyskinesia, primary, 29EnrichmentGCDH0.30
2040Aminoacylase 1 deficiencyEnrichmentACY10.30
2041Spermatogenic failure 1EnrichmentPDHA20.30
2042Developmental and epileptic encephalopathy 12EnrichmentPLCB10.30
2043Developmental and epileptic encephalopathy 42EnrichmentCACNA1A0.30
2044Tobacco addictionEnrichmentCYP2A60.30
2045Imerslund-grasbeck syndrome 2EnrichmentAMN0.30
2046Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentHPDL0.30
2047Mitochondrial complex i deficiency, nuclear type 18EnrichmentNDUFAF30.30
2048Glycogen storage disease xEnrichmentPGAM20.30
2049Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D20.30
2050Macular dystrophy with or without cone dysfunctionEnrichmentGPHN0.30
2051Developmental and epileptic encephalopathy 52EnrichmentCACNA1A0.30
2052Ectodermal dysplasiaEnrichmentRANBP20.30
2053Combined oxidative phosphorylation deficiency 24EnrichmentRTEL10.30
2054Congenital myopathy 1aEnrichmentCYB5R30.30
2055Portal hypertensionEnrichmentDGUOK0.30
2056CraniopharyngiomaEnrichmentERCC20.30
2057Pilocytic astrocytomaEnrichmentSDHA0.30
2058Spastic quadriplegic cerebral palsyEnrichmentISCA20.30
2059Newborn respiratory distress syndromeEnrichmentABCC80.30
2060Mucopolysaccharidosis ivEnrichmentGALNS0.30
2061Episodic ataxiaEnrichmentCACNA1A0.30
2062Familial paroxysmal nonkinesigenic dyskinesiaEnrichmentPNKD0.30
2063Adenosine deaminase deficiencyEnrichmentADA0.30
2064Knobloch syndromeEnrichmentSLC19A10.30
2065Familial or sporadic hemiplegic migraineEnrichmentCACNA1A0.30
2066Pediatric systemic lupus erythematosusEnrichmentSAT10.30
2067Full schwannomatosisEnrichmentCOQ60.30
2068Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentPRPS10.30
2069Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentHS3ST60.30
2070Familial sick sinus syndromeEnrichmentGNB20.30
2071Type 2 diabetes mellitusEnrichmentABCC8, ENPP1, GCK, GPD2, KCNJ11, PPARG, SLC2A20.29
2072Diaphragmatic hernia, congenitalEnrichmentCDK80.28
2073Osteogenesis imperfecta, type ivEnrichmentMBTPS20.28
2074Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentINPP5E0.28
2075Acute promyelocytic leukemiaEnrichmentTBL1XR10.28
2076ClubfootEnrichmentINPP5E0.28
2077Chronic kidney diseaseEnrichmentCUBN0.28
2078Nk-cell enteropathyEnrichmentPIK3CB0.28
2079Alzheimer disease, familial, 1EnrichmentAPOE, MT-ND1, NOS30.28
2080Sudden infant death syndromeEnrichmentCALM2, MT-ND1, PDHA10.28
2081Congenital disorder of glycosylation, type inEnrichmentPGM1, SLC37A4, SRD5A30.28
2082MicrocephalyEnrichmentARF3, CHKA, EP300, INPP4A, MED12, MFSD2A, PLA2G60.27
2083Stargardt disease 1EnrichmentELOVL4, FLVCR1, GPHN, LRAT, SLC19A10.27
2084Colorectal cancerEnrichmentEP300, PIK3CA, PIK3R1, PLA2G2A, PPARG0.27
2085Atrial heart septal defectEnrichmentABCC8, RPL50.26
2086Interatrial communicationEnrichmentABCC8, RPL50.26
2087Familial colorectal cancer type xEnrichmentPOLD1, RPS200.26
2088Breast cancerEnrichmentABCA1, AKT1, BRIP1, CYP17A1, GNG3, HMMR, MT-CYB, NQO2, PAH, PIK3CA, PTEN, SDHA0.26
2089Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentPNPLA60.26
2090Periventricular nodular heterotopiaEnrichmentARF10.26
2091Heart diseaseEnrichmentCREBBP0.26
2092Congenital myasthenic syndromeEnrichmentCHAT0.26
2093Familial hypertrophic cardiomyopathyEnrichmentGLA, PRKAG20.25
2094Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentABCC1, OSBPL2, SLC44A40.25
2095Pontocerebellar hypoplasiaEnrichmentAMPD2, MINPP1, SEPSECS0.25
2096Hereditary breast carcinomaEnrichmentAKT1, BRIP1, MT-CYB, NQO2, PIK3CA, PTEN, SDHA0.24
2097Male infertilityEnrichmentGPAT2, PLD60.24
2098Familial isolated dilated cardiomyopathyEnrichmentANKRD1, FHL2, TAFAZZIN0.24
2099Coffin-siris syndrome 1EnrichmentARSL0.24
2100Polydactyly, postaxial, type a1EnrichmentEP3000.24
2101Osteogenesis imperfecta, type iiiEnrichmentMBTPS20.24
2102Neuronal ceroid lipofuscinosisEnrichmentPPT10.24
2103Lynch syndromeEnrichmentPIK3CA0.24
2104Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP20.24
2105Episodic ataxia, type 2EnrichmentCACNA1A0.24
2106Epidermolysis bullosa simplex 1c, localizedEnrichmentGALK10.24
2107Paroxysmal extreme pain disorderEnrichmentIDH10.24
2108Smith-magenis syndromeEnrichmentSMS0.24
2109Fanconi anemia, complementation group d2EnrichmentBRIP10.24
2110Glutaric acidemia iEnrichmentGCDH0.24
2111Cockayne syndrome aEnrichmentNDUFAF20.24
2112Von hippel-lindau syndromeEnrichmentSDHB0.24
2113Muscular dystrophy-dystroglycanopathy , type a, 1EnrichmentB4GAT10.24
2114Mannosidosis, alpha b, lysosomalEnrichmentMAN2B10.24
2115Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD0.24
2116Gitelman syndromeEnrichmentIDUA0.24
2117Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentADA0.24
2118Neuronopathy, distal hereditary motor, autosomal dominant 5EnrichmentPNPO0.24
2119Major depressive disorderEnrichmentTPH20.24
2120Knobloch syndrome 1EnrichmentSLC19A10.24
2121Familial adenomatous polyposis 1EnrichmentSTK110.24
2122Myasthenic syndrome, congenital, 8EnrichmentAGRN0.24
2123Pre-eclampsiaEnrichmentNOS30.24
2124Heart conduction diseaseEnrichmentCACNA1C0.24
2125Spastic diplegiaEnrichmentSEPSECS0.24
2126HyperekplexiaEnrichmentGPHN0.24
2127OsteopetrosisEnrichmentCA20.24
2128PolyhydramniosEnrichmentABCC80.24
2129Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.24
2130Rare isolated myopiaEnrichmentSCO20.24
2131Free sialic acid storage disorderEnrichmentSLC17A50.24
2132Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC20.24
2133Sleep disorderEnrichmentGCH10.24
2134Mitochondrial oxidative phosphorylation disorderEnrichmentNUBPL0.24
2135Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK110.24
2136Congenital long qt syndromeEnrichmentITPR3, SLC2A20.23
2137Postsynaptic congenital myasthenic syndromesEnrichmentAGRN, AK90.23
2138Cystic fibrosisEnrichmentEPHX1, GCLC, GSTM3, HMOX1, STX1A0.22
2139Connective tissue diseaseEnrichmentCBS, EBP, NEK1, PYCR1, SLC26A20.22
2140Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.22
2141Wolff-parkinson-white syndromeEnrichmentPRKAG20.22
2142HypertensionEnrichmentGBA10.22
2143GliosarcomaEnrichmentPPARG0.22
2144Isolated congenital microcephalyEnrichmentDHCR70.22
2145Non-syndromic x-linked intellectual disabilityEnrichmentACSL4, MED120.22
2146Esophageal atresia/tracheoesophageal fistulaEnrichmentBRIP1, GART, GLS0.22
2147Dyskeratosis congenitaEnrichmentPFAS, RTEL1, TYMS0.22
2148Cerebral palsyEnrichmentALDH3A2, CACNA1A, CACNA1C, GNB1, GPHN, SAMHD10.22
2149Tetralogy of fallotEnrichmentCERS1, MT-CO1, MT-CO2, MT-CO30.21
2150Auditory neuropathyEnrichmentCACNA1A, FDXR, MT-ND6, SLC52A20.21
2151Cleft palate, isolatedEnrichmentINPP5E0.21
2152Dandy-walker syndromeEnrichmentPPP1CB0.21
2153Cardiomyopathy, dilated, 1eEnrichmentMED120.21
2154Syndromic intellectual disabilityEnrichmentMED160.21
2155Giant cell glioblastomaEnrichmentPPARG0.21
2156Aortic valve disease 1EnrichmentMT-ATP6, MT-ATP80.19
2157Pulmonary hypertension, primary, 1EnrichmentPAH, RPL50.19
2158Alzheimer's diseaseEnrichmentAPOE, MT-ND10.19
2159Protein-deficiency anemiaEnrichmentRPL11, RPS260.19
2160Focal segmental glomerulosclerosisEnrichmentCOQ2, NUP93, PLCE10.19
2161Cerebrooculofacioskeletal syndrome 1EnrichmentERCC20.19
2162Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B0.19
2163Wolf-hirschhorn syndromeEnrichmentLETM10.19
2164Epidermolysis bullosa, junctional 1a, intermediateEnrichmentGALK10.19
2165Type 1 diabetes mellitusEnrichmentINS0.19
2166Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentGALK10.19
2167Testicular germ cell tumorEnrichmentSTK110.19
2168Congenital anomalies of kidney and urinary tract 1EnrichmentTRAP10.19
2169Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.19
2170Inflammatory myofibroblastic tumorEnrichmentRANBP20.19
2171Autosomal recessive intellectual developmental disorderEnrichmentEEFSEC0.19
2172Junctional epidermolysis bullosa non-herlitz typeEnrichmentGALK10.19
2173Mitochondrial dna depletion syndromeEnrichmentTK20.19
2174KeratoconusEnrichmentALDH3A10.19
2175Pain disorderEnrichmentOAT0.19
2176Pulmonary fibrosisEnrichmentRTEL10.19
2177Adrenocortical carcinomaEnrichmentPRKAR1A0.19
2178Hereditary spherocytosisEnrichmentGPI0.19
2179Hoyeraal-hreidarsson syndromeEnrichmentRTEL10.19
2180Short rib-polydactyly syndromeEnrichmentNEK10.19
2181MyopathyEnrichmentACADVL, MTM10.18
2182Arteriovenous malformations of the brainEnrichmentPITPNM30.18
2183Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentMED250.18
2184Retinitis pigmentosaEnrichmentAHR, ATP5ME, CA4, COQ8B, CYGB, CYP4V2, FLVCR1, GLDC, GPHN, HGSNAT, HK1, IDH3A, IDH3B, IMPDH1, INPP5E, LRAT, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, PANK2, PHYH, PNPLA6, PPT1, RRM2B, SLC19A10.17
2185Bardet-biedl syndromeEnrichmentOSBPL8, TSPOAP10.16
2186Complex neurodevelopmental disorderEnrichmentCDK8, CERT1, CSNK2A1, MED13, MED27, RORA0.16
2187Gastric cancerEnrichmentPIK3CA, PTEN0.15
2188Hypertrophic cardiomyopathyEnrichmentGLA, PRKAG20.15
2189Cardiomyopathy, dilated, 1aEnrichmentSLC22A50.15
2190Centronuclear myopathyEnrichmentMTM10.15
2191Oculopharyngodistal myopathy 1EnrichmentLRP120.15
2192Prader-willi syndromeEnrichmentOCA20.15
2193Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.15
2194Waardenburg syndrome, type 2eEnrichmentTYR0.15
2195Pontocerebellar hypoplasia, type 2eEnrichmentSEPSECS0.15
2196BrachydactylyEnrichmentGNAS0.15
2197NeutropeniaEnrichmentSLC37A40.15
2198Motor neuron diseaseEnrichmentNEK10.15
2199Cockayne syndromeEnrichmentNDUFAF20.15
2200Focal epilepsyEnrichmentSNAP250.15
2201Epidermolysis bullosa simplexEnrichmentGALK10.15
2202Hypophosphatemic ricketsEnrichmentENPP10.15
2203Moyamoya angiopathyEnrichmentAGMAT0.15
2204Attention deficit-hyperactivity disorderEnrichmentGNB5, MT-ND1, RPL170.15
2205Visceral heterotaxyEnrichmentCERS10.14
2206Skin diseaseEnrichmentCERS30.14
2207Noonan syndrome 1EnrichmentPPP1CB0.13
2208MalariaEnrichmentCD360.13
2209Kallmann syndromeEnrichmentPNPLA60.13
2210Muscular dystrophyEnrichmentCHKB0.13
2211Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.12
2212Leber congenital amaurosis 1EnrichmentLRAT0.12
2213Short-rib thoracic dysplasia 12EnrichmentNEK10.12
2214Lennox-gastaut syndromeEnrichmentCACNA1A0.12
2215Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.12
2216HypothyroidismEnrichmentGNB10.12
2217Isolated split hand-split foot malformationEnrichmentSEM10.12
2218Early-onset posterior polar cataractEnrichmentPANK40.12
2219Long qt syndromeEnrichmentCACNA1C, CALM1, CALM2, TECRL0.12
2220Jeune thoracic dystrophyEnrichmentLBR0.12
2221AutismEnrichmentARF3, CREBBP, SRD5A30.11
2222Brugada syndromeEnrichmentGPD1L0.11
2223RasopathyEnrichmentPPP1CB0.11
2224Lung cancerEnrichmentCYP2A6, PIK3CA, PPP2R1B, SLC19A10.11
2225Primary autosomal recessive microcephalyEnrichmentMFSD2A, NUP37, PYCR2, SARS10.11
2226Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, CSNK2B0.11
2227Pancreatic cancerEnrichmentBRIP1, POLD1, STK110.10
2228EpilepsyEnrichmentALDH7A1, MT-CO3, MT-CYB, MTR, SLC2A10.10
2229Tooth agenesis, selective, 1EnrichmentITPA0.10
2230Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRIP10.10
2231Nephrotic syndrome, type 1EnrichmentPLCE10.10
2232Inflammatory bowel disease 1EnrichmentERCC20.10
2233Myoclonic-atonic epilepsyEnrichmentSLC2A10.10
2234Junctional epidermolysis bullosaEnrichmentGALK10.10
2235Primary hyperaldosteronismEnrichmentGNAS0.10
2236Aicardi-goutiares syndromeEnrichmentSAMHD10.10
2237TrichothiodystrophyEnrichmentERCC20.10
2238Severe combined immunodeficiencyEnrichmentADA, AK2, MTHFD1, PNP0.10
2239Asphyxiating thoracic dystrophyEnrichmentLBR0.10
2240Neuromuscular diseaseEnrichmentCIAO1, SORD0.09
2241Differentiated thyroid carcinomaEnrichmentPPARG0.09
2242Isolated joubert syndromeEnrichmentINPP5E0.09
2243Leukemia, chronic lymphocyticEnrichmentRPS150.08
2244Omenn syndromeEnrichmentADA0.08
2245Aplastic anemiaEnrichmentRPL50.08
2246Aicardi-goutieres syndromeEnrichmentSAMHD10.08
2247Stickler syndromeEnrichmentVCAN0.08
2248PolymicrogyriaEnrichmentPSMC30.08
2249Mitochondrial encephalomyopathyEnrichmentMT-CYB0.08
2250Progressive myoclonus epilepsyEnrichmentEPM2A0.08
2251Undetermined early-onset epileptic encephalopathyEnrichmentCDK19, SYNJ10.08
2252Visceral heterotaxy 5EnrichmentCERS10.08
2253Eye diseaseEnrichmentGPHN, LRAT, RBP4, TYR0.08
2254Peripheral nervous system diseaseEnrichmentSPTLC30.08
2255NeuropathyEnrichmentSPTLC30.08
2256Primary ovarian insufficiencyEnrichmentCYP17A1, CYP19A10.07
2257Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentLBR0.07
2258Usher syndromeEnrichmentARSG0.07
2259AzoospermiaEnrichmentFAHD1, PDHA20.07
2260CraniosynostosisEnrichmentGPC4, MAN2B10.07
2261Immune deficiency diseaseEnrichmentSLC37A40.07
2262Xeroderma pigmentosum, variant typeEnrichmentERCC20.07
2263Leukemia, acute lymphoblasticEnrichmentGNB10.07
2264Myelodysplastic syndromeEnrichmentGNB10.07
2265Combined immunodeficiencyEnrichmentPOLD10.07
2266Combined t cell and b cell immunodeficiencyEnrichmentPOLD10.07
2267Combined t and b cell immunodeficiencyEnrichmentPOLD10.07
2268Fetal akinesia deformation sequence 1EnrichmentADSS1, ASAH1, GBE1, NUP880.06
2269Left ventricular noncompactionEnrichmentTAFAZZIN0.06
2270Cardiac conduction defectEnrichmentCACNA1C0.06
2271EpicanthusEnrichmentRPL170.06
2272Myoclonic epilepsy associated with ragged-red fibersEnrichmentMT-ND50.06
2273Short-rib thoracic dysplasia 6 with or without polydactylyEnrichmentNEK10.06
2274Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentNEK10.06
2275Cutis laxaEnrichmentPYCR10.06
2276Restrictive cardiomyopathyEnrichmentMT-ND10.06
227746 xx gonadal dysgenesisEnrichmentNUP1070.06
2278Tooth agenesisEnrichmentITPA, RANBP20.05
2279Microphthalmia/coloboma 12EnrichmentRBP40.05
2280Neural tube defectsEnrichmentMTHFR0.05
2281Breast-ovarian cancer, familial 1EnrichmentBRIP10.05
2282Chromosome 1p36 deletion syndromeEnrichmentHSPG20.05
2283Stereotypic movement disorderEnrichmentSNAP250.05
2284Sensorineural hearing lossEnrichmentKARS1, RRM2B, SLC19A2, SLC52A2, SPNS20.05
2285Leukemia, acute myeloidEnrichmentIDH1, IDH2, NUP214, RTEL10.04
2286Benign epilepsy with centrotemporal spikesEnrichmentASAH10.04
2287Distal arthrogryposisEnrichmentASAH10.04
2288Myoclonic epilepsy of unverricht and lundborgEnrichmentEPM2A0.04
2289Walker-warburg syndromeEnrichmentB4GAT10.04
2290Seckel syndromeEnrichmentNUP850.04
2291CataractEnrichmentSLC19A10.04
2292Hereditary chronic pancreatitisEnrichmentPRSS10.04
2293Isolated macular dystrophyEnrichmentACO20.04
2294Centralopathic epilepsyEnrichmentASAH10.04
2295Familial thoracic aortic aneurysm and aortic dissectionEnrichmentMED120.04
2296Coloboma of maculaEnrichmentRBP40.03
2297Wilms tumor 1EnrichmentGPC30.03
2298MyopiaEnrichmentTYR0.03
2299Atypical hemolytic-uremic syndromeEnrichmentMMACHC0.03
2300ThrombocytopeniaEnrichmentGBA10.03
2301Creatine phosphokinase, elevated serumEnrichmentGAA0.03
2302Isolated elevated serum creatine phosphokinase levelsEnrichmentGAA0.03
2303Joubert syndrome 1EnrichmentINPP5E0.03
2304Ovarian cancerEnrichmentAKT1, BRIP1, ERCC2, EXT1, EXT2, FH, HMMR, MT-CYB, PIK3CA, PTEN, SDHAF20.02
2305Inherited cancer-predisposing syndromeEnrichmentAIP, BRIP1, DHFR, EXT2, FH, POLD1, PRKAR1A, PTEN, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, STK110.02
2306Melanoma, cutaneous malignant 1EnrichmentSTK110.02
2307Pancreatitis, hereditaryEnrichmentPRSS10.02
2308Interstitial lung disease 2EnrichmentRTEL10.02
2309Alobar holoprosencephalyEnrichmentPLCH10.02
2310Patent foramen ovaleEnrichmentPSMC30.02
2311Early infantile developmental and epileptic encephalopathyEnrichmentSLC25A220.02
2312Normosmic congenital hypogonadotropic hypogonadismEnrichmentHS6ST10.02
2313Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.02
2314Williams-beuren syndromeEnrichmentSTX1A0.01
2315Macs syndromeEnrichmentRBP40.01
2316MicrophthalmiaEnrichmentRBP40.01
2317Cone-rod dystrophy 2EnrichmentPITPNM30.01
2318CakutEnrichmentHPSE2, TRAP10.01
2319Congenital stationary night blindnessEnrichmentGNB30.01
2320Non-syndromic male infertility due to sperm motility disorderEnrichmentAK70.01
2321Precursor t-cell acute lymphoblastic leukemiaEnrichmentNUP2140.01
2322Ear malformationEnrichmentSLC19A20.01
2323Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C0.01
2324Familial atrial fibrillationEnrichmentNUP1550.01
2325Rare genetic deafnessEnrichmentHSD17B40.00
2326Dilated cardiomyopathyEnrichmentTAFAZZIN0.00
2327Severe covid-19EnrichmentENTPD20.00
2328Hereditary retinal dystrophyEnrichmentACO2, ATP5ME, CA4, CYGB, CYP4V2, ELOVL4, FLVCR1, GPHN, HGSNAT, HK1, IDH3A, IMPDH1, INPP5E, LRAT, LRP2, MMACHC, MT-ND4, MT-ND6, MVK, NMNAT1, OAT, OSBPL8, PANK2, PHYH, PNPLA6, PRPS1, RBP4, RDH11, SGSH, SLC19A1, TTPA, VCAN0.00
2329Fundus dystrophyEnrichmentACO2, ATP5ME, CA4, CYGB, CYP4V2, ELOVL4, FLVCR1, GPHN, HGSNAT, HK1, IDH3A, IMPDH1, INPP5E, LRAT, LRP2, MMACHC, MT-ND4, MT-ND6, MVK, NMNAT1, OAT, OSBPL8, PANK2, PHYH, PNPLA6, PRPS1, RBP4, RDH11, SGSH, SLC19A1, TTPA, VCAN0.00
2330Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGLUD2, PDHA2, RPL10L0.00
2331SchizophreniaEnrichmentCOMT, MTHFR, TMLHE0.00
2332Fanconi anemia, complementation group aEnrichmentBRIP10.00
2333Non-syndromic genetic deafnessEnrichmentKARS10.00
2334Nonsyndromic hearing lossEnrichmentKARS10.00
2335Deafness, autosomal recessiveEnrichmentKARS10.00
2336Autosomal recessive nonsyndromic deafnessEnrichmentKARS10.00
2337Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, KARS10.00
2338Primary ciliary dyskinesiaEnrichmentPRKAR1B0.00

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