Metabolism of proteins

No Pathway Network information available for Metabolism of proteins

Pathways in the Metabolism of proteins SuperPath

#NameSourceGenes
1Metabolism of proteinsReactome
(see all 2115) (see less)
2Post-translational protein modificationReactome
(see all 1494) (see less)

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

Disorders associated with Metabolism of proteins SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Walker-warburg syndromeEnrichmentB3GALNT2, B4GAT1, CRPPA, DAG1, FKRP, FKTN, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT111.67
2Diamond-blackfan anemiaEnrichmentADA2, RPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TP5310.71
3Muscle eye brain diseaseEnrichmentB3GALNT2, CRPPA, FKRP, FKTN, GMPPB, LARGE1, POMGNT1, POMT1, POMT27.68
4Congenital muscular dystrophy with cerebellar involvementEnrichmentFKRP, GMPPB, POMGNT1, POMK, POMT1, POMT25.75
5Congenital disorder of glycosylation, type inEnrichmentALG1, ALG13, ALG3, DPAGT1, EEF2KMT, MAGT1, NUS1, PMM2, RFT1, SRD5A35.62
6Mitochondrial myopathy, infantile, transientEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND55.57
7Diamond-blackfan anemia 1EnrichmentRPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS7, TP535.12
8Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND54.94
9Muscular dystrophy-dystroglycanopathy , type a, 1EnrichmentB4GAT1, FKRP, FKTN, POMT1, POMT24.79
10Congenital muscular dystrophy with intellectual disabilityEnrichmentFKRP, GMPPB, LARGE1, POMT1, POMT24.79
11Congenital myasthenic syndromes with glycosylation defectEnrichmentALG14, ALG2, DPAGT1, GFPT1, GMPPB4.79
12Hyperphosphatasia with impaired intellectual development syndrome 1EnrichmentPIGG, PIGL, PIGO, PIGV, PIGW, PIGY4.39
13Leber optic atrophy and dystoniaEnrichmentMT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND64.04
14Hereditary pulmonary alveolar proteinosisEnrichmentABCA3, CSF2RA, CSF2RB, SFTPB, SFTPC4.04
15Leigh diseaseEnrichmentATP5PO, FARS2, FBXL4, GFM1, IARS2, LIPT1, MRPL39, MRPS34, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTFMT, NDUFA13, NDUFS1, NDUFV13.87
16Congenital muscular dystrophy without intellectual disabilityEnrichmentCRPPA, FKRP, FKTN, POMT13.83
17Leigh syndrome, nuclearEnrichmentATP5PO, FARS2, FBXL4, GFM1, IARS2, LIPT1, MRPS34, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTFMT, NDUFA13, NDUFV13.70
18Mitochondrial diseaseEnrichmentAARS2, GFM2, MRPL39, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, NARS2, NDUFS1, OPA1, OXA1L, PIGY, RARS2, SPG7, TWNK, UQCRC2, VARS2, YARS23.65
19Muscular dystrophy-dystroglycanopathyEnrichmentB3GALNT2, CRPPA, FKRP, GMPPB, POMGNT13.55
20Congenital muscular dystrophy due to dystroglycanopathyEnrichmentB3GALNT2, CRPPA, FKRP, GMPPB, POMGNT13.55
21Leigh syndrome, mitochondrialEnrichmentMT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND63.39
22Loeys-dietz syndromeEnrichmentABCA3, FBN1, SMAD2, SMAD3, TGFBR1, TGFBR23.11
23Leukoencephalopathy with vanishing white matterEnrichmentAARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B53.11
24Mitochondrial complex v deficiency, mitochondrial type 1EnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND52.99
25Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND52.99
26Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND52.99
27Camptodactyly of fingersEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND52.99
28Three m syndrome 1EnrichmentCCDC8, CUL7, OBSL12.87
29Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentPIGG, PIGK, SPTBN12.87
30Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C92.87
31Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR22.87
32Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB32.87
33Cerebral sinovenous thrombosisEnrichmentF2, F5, PROZ2.87
34Perrault syndrome 1EnrichmentCLPP, DAP3, ERAL1, FBN1, HARS2, LARS2, MRPL49, TWNK2.86
35Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B52.84
36Neonatal adrenoleukodystrophyEnrichmentPEX10, PEX12, PEX13, PEX14, PEX2, PEX52.82
37Optic nerve diseaseEnrichmentKARS1, LIPT1, MT-ATP6, MT-ATP8, MT-ND1, SRD5A32.77
38Developmental and epileptic encephalopathy 36EnrichmentALG1, ALG13, DPM1, PMM22.74
39Polycystic liver diseaseEnrichmentALG8, ALG9, CDC25A, CTNNB1, GANAB, PRKCSH, RUVBL1, SEC61A12.65
40Autosomal dominant polycystic liver diseaseEnrichmentALG8, ALG9, CDC25A, CTNNB1, GANAB, PRKCSH, RUVBL1, SEC61A12.65
41MelanomaEnrichmentCDKN2A, DNMT3A, FBN1, MITF, PTEN2.60
42Amyloidosis, hereditary systemic 2EnrichmentAPOA1, B2M, FGA, LYZ2.59
43Leber 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-ND4L, MT-ND5, MT-ND62.56
44Glioma susceptibility 1EnrichmentBAP1, H3-3A, H3C1, IDH2, TP532.47
45Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B52.47
46Mitochondrial 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, NDUFS12.44
47Peroxisome biogenesis disorder 1bEnrichmentPEX10, PEX12, PEX13, PEX14, PEX2, PEX52.44
48Zellweger syndromeEnrichmentPEX10, PEX12, PEX13, PEX14, PEX2, PEX52.44
49Combined oxidative phosphorylation deficiency 1EnrichmentGFM1, MRPL44, NARS22.42
50Anastomosing haemangiomaEnrichmentGNA11, GNA14, GNAQ2.42
51Pediatric acute respiratory distress syndromeEnrichmentABCA3, SFTPB, SFTPC2.42
52Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentNUS1, TUBA1A, TUBB2B, WFS12.41
53Weill-marchesani syndromeEnrichmentADAMTS10, ADAMTS17, FBN12.31
54TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B2.31
55Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR12.31
56Perrault syndrome 2EnrichmentCLPP, ERAL1, HARS2, LARS2, TWNK2.18
57Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP53, WRAP532.17
58Complex neurodevelopmental disorderEnrichmentACTL6A, ANK2, BAP1, CTR9, CUL3, DOHH, EIF5A, FBXO11, FBXW11, H4C3, H4C5, H4C9, HNRNPC, NR4A2, NTNG1, NTNG2, OTUD5, PSMD12, RNF2, RORA, SPTBN1, SVBP, TRAPPC42.08
59Familial colorectal cancerEnrichmentMT-CO1, MT-CO2, MT-CYB, MT-ND4L, TP531.93
60Bilateral perisylvian polymicrogyriaEnrichmentNUS1, TUBA1A, TUBB2B, WFS11.93
61Primary hyperaldosteronismEnrichmentNR3C1, TP53, USP48, USP81.93
62Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP, CST31.92
63Muscular dystrophy-dystroglycanopathy , type a, 4EnrichmentFKRP, FKTN1.92
64Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB1.92
65Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR21.92
66Fanconi anemia, complementation group nEnrichmentDCTN5, PALB21.92
67Hyperparathyroidism 1EnrichmentCDC73, MEN11.92
68Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL3, NR3C21.92
69Glycosylphosphatidylinositol biosynthesis defect 1EnrichmentPIGM, PIGW1.92
70Muscular dystrophy-dystroglycanopathy , type c, 12EnrichmentPOMK, POMT11.92
71Ehlers-danlos syndrome, dermatosparaxis typeEnrichmentADAMTS2, ADAMTSL21.92
72Pancreatic cancer 3EnrichmentDCTN5, PALB21.92
73Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C31.92
74Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C111.92
75Hemophilia bEnrichmentF8, F91.92
76Congenital disorder of glycosylation with defective fucosylation 1EnrichmentFCSK, FUT81.92
77Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB91.92
78Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA1.92
79InsulinomaEnrichmentMEN1, YY11.92
80Combined deficiency of factor v and factor viiiEnrichmentLMAN1, MCFD21.92
81Singleton-merten syndromeEnrichmentIFIH1, RIGI1.92
82Lens subluxationEnrichmentFBN1, TFAP2A1.92
83Microcephalic primordial dwarfism-insulin resistance syndromeEnrichmentNSMCE2, XRCC41.92
84Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM1, VCP1.92
85Cardiomyopathy, infantile histiocytoidEnrichmentMT-ATP6, MT-ATP8, MT-CYB1.87
86Familial infantile bilateral striatal necrosisEnrichmentMT-ATP6, NUP54, NUP621.87
87Myeloma, multipleEnrichmentAURKA, BAP1, BARD1, CREBBP, CYLD, DNMT3A, H2AC16, H2AC17, HDAC4, NCOR2, RXRA, TP531.77
88Hereditary breast carcinomaEnrichmentAPC, BARD1, BLM, BRCA1, CDC73, DCTN5, ESR1, PALB2, PTEN, TP531.72
89Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB31.69
90Hereditary spherocytosisEnrichmentANK1, SPTA1, SPTB1.69
91Sporadic pheochromocytoma/secreting paragangliomaEnrichmentDNMT3A, EPAS1, VHL1.69
92Chromosome 5q deletion syndromeEnrichmentEEF1D, RPS141.61
93Cardiomyopathy, infantile hypertrophicEnrichmentMT-ATP6, MT-ATP81.61
94Surfactant metabolism dysfunction, pulmonary, 1EnrichmentABCA3, SFTPB1.61
95Osteopathia striata with cranial sclerosisEnrichmentAMER1, CTNNB11.61
96Muscular dystrophy-dystroglycanopathy , type a, 11EnrichmentB3GALNT2, TBCE1.61
97Spastic paraplegia 79b, autosomal recessiveEnrichmentSPG7, UCHL11.61
98Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA6, SRP541.61
99Immunodeficiency, common variable, 15EnrichmentRUVBL1, SEC61A11.61
100Alzheimer disease mitochondrialEnrichmentMT-ND1, MT-ND21.61
101Nephrotic syndrome, type 17EnrichmentGGA3, NUP851.61
102Parkinson disease 15, autosomal recessive early-onsetEnrichmentFBXO7, SNCA1.61
103Recessive dystrophic epidermolysis bullosaEnrichmentCOL7A1, MMP11.61
104Surfactant metabolism dysfunction, pulmonary, 3EnrichmentABCA3, F81.61
10546,xy sex reversal 3EnrichmentGATA4, NR5A11.61
106Interstitial lung and liver diseaseEnrichmentFARSB, MARS11.61
107Immunodeficiency 57 with autoinflammationEnrichmentRIPK1, SKIC21.61
108Buratti-harel syndromeEnrichmentLONP2, SIAH11.61
109Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B1.61
110Congenital muscular dystrophy-dystroglycanopathy type a11EnrichmentB3GALNT2, TBCE1.61
111Phakomatosis cesioflammeaEnrichmentGNA11, GNAQ1.61
112Periodic paralysis with later-onset distal motor neuropathyEnrichmentMT-ATP6, MT-ATP81.61
113Diabetes mellitusEnrichmentINS, MEN1, PMM2, WFS11.59
114Early-onset parkinson's diseaseEnrichmentHTRA2, PARK7, PRKN, SNCA, UCHL11.55
115Genetic steroid-resistant nephrotic syndromeEnrichmentAPOL1, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP931.55
116Dementia, lewy bodyEnrichmentGBA1, SNCA, VCP1.53
117Multiple endocrine neoplasia, type iEnrichmentCDC73, CDKN1A, MEN11.48
118Optic atrophy plus syndromeEnrichmentACO2, AFG3L2, MT-ND1, MT-ND4, MT-ND6, MTRFR, OPA1, PIGQ, PMPCA, SPG7, TUBB6, WFS11.48
119Pseudohypoaldosteronism, type iiaEnrichmentCUL3, KLHL31.47
120Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF23, GALNT31.47
121Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB81.47
122Uvula, bifidEnrichmentARF3, UBB1.47
123Factor v and factor viii, combined deficiency of, 1EnrichmentLMAN1, MCFD21.47
124Multiple sulfatase deficiencyEnrichmentSUMF1, SUMF21.47
125Nasopharyngeal carcinomaEnrichmentNFKBIA, TP531.47
126Dysfibrinogenemia, congenitalEnrichmentFGA, FGG1.47
127Muscular dystrophy-dystroglycanopathy , type a, 8EnrichmentCRPPA, POMGNT21.47
128Breast-ovarian cancer, familial 5EnrichmentDCTN5, PALB21.47
129Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C51.47
130Diphthamide deficiency syndromeEnrichmentDPH1, DPH21.47
131Weill-marchesani syndrome 1EnrichmentADAMTS10, FBN11.47
132Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB81.47
133Isolated ectopia lentisEnrichmentADAMTSL4, FBN11.47
134Congenital muscular dystrophy-dystroglycanopathy type aEnrichmentPOMGNT1, POMT21.47
135Familial dysfibrinogenemiaEnrichmentFGA, FGG1.47
136Parathyroid adenomaEnrichmentCDC73, MEN11.47
137Familial isolated hyperparathyroidismEnrichmentCDC73, MEN11.47
138Cole-carpenter syndromeEnrichmentP4HB, SEC24D1.47
139Familial hypofibrinogenemiaEnrichmentFGA, FGG1.47
140Geleophysic dysplasiaEnrichmentADAMTSL2, FBN11.47
141Hyperpigmentation of the skinEnrichmentCOL7A1, USP9X1.47
142HepatoblastomaEnrichmentAPC, BARD1, COL7A1, CTNNB1, GBA1, REN, TP531.46
143Acute promyelocytic leukemiaEnrichmentNPM1, PML, RARA, STAT3, ZBTB161.40
144Congenital nervous system abnormalityEnrichmentAAAS, ANK3, ARSA, CREBBP, DNMT3A, DYNC1H1, ERCC8, FUCA1, NTNG2, POMGNT1, POMT1, PTEN, SMC1A, SRD5A3, TRAPPC9, TUBA1A, TUBB4A, TUSC31.39
145Nervous system diseaseEnrichmentAAAS, ANK3, ARSA, CREBBP, DNMT3A, DYNC1H1, ERCC8, FUCA1, NTNG2, POMGNT1, POMT1, PTEN, SMC1A, SRD5A3, TRAPPC9, TUBA1A, TUBB4A, TUSC31.39
146Rett syndrome, congenital variantEnrichmentARSJ, NTNG1, SMC1A1.31
147Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM31.31
148Zellweger spectrum disorderEnrichmentPEX10, PEX2, PEX51.31
149Isolated split hand-split foot malformationEnrichmentBTRC, FBXW4, SEM11.31
150Autism spectrum disorderEnrichmentANK2, ASXL1, ASXL2, CUL3, DNMT3A, DYNC1H1, GRIA1, HK1, MBD5, NR3C2, NR4A2, PRKN, PTEN, RNF135, SATB2, SMC3, TOP2B, TRAPPC91.29
151Melanoma, uvealEnrichmentBAP1, GNA11, GNAQ1.28
152Shwachman-diamond syndrome 1EnrichmentSRP19, SRP54, SRPRA1.28
153Renal tubular dysgenesisEnrichmentACE, AGT, REN1.28
154Parkinson disease 6, autosomal recessive early-onsetEnrichmentMT-ND5, MT-ND6, PARK71.28
155Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TP531.28
156HypertelorismEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, PAX6, TFAP2A1.28
157Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX4I1, COX5A, MT-CO1, MT-CO2, MT-CO31.27
158Stroke, ischemicEnrichmentACE, F2, F5, FBN11.25
159Autosomal recessive non-syndromic intellectual disabilityEnrichmentAIMP1, B3GALNT2, EEF1B2, EEF1D, FBXO31, GRIA1, LMAN2L, MAN1B1, PGAP1, PIGC, SARS1, TPR, TRAPPC9, TUSC31.23
160Afibrinogenemia, congenitalEnrichmentFGA, FGG1.20
161Hemophilia aEnrichmentF8, F91.20
162Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS, GMPPA1.20
163Warburg micro syndrome 1EnrichmentRAB18, TBC1D201.20
164Budd-chiari syndromeEnrichmentCALR, F51.20
165Congenital disorder of glycosylation, type ikEnrichmentALG1, EEF2KMT1.20
166Factor viii deficiencyEnrichmentF8, F91.20
167Au-kline syndromeEnrichmentHNRNPK, VHL1.20
168Hereditary elliptocytosisEnrichmentSPTA1, SPTB1.20
169Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentAARS1, GARS1, KIF5A, MME, TFG, VCP1.20
170Desmoid disease, hereditaryEnrichmentAPC, CTNNB11.18
171Prognathism, mandibularEnrichmentCSNK2B, GPR75-ASB31.18
172Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentAARS1, AARS21.18
173Diamond-blackfan anemia 15 with mandibulofacial dysostosisEnrichmentRPS26, RPS281.18
174Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2EnrichmentARSA, YARS11.18
175Mitochondrial complex v deficiency, nuclear type 5EnrichmentMT-ND5, NDUFV11.18
176Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyEnrichmentVARS1, VARS21.18
177Desmoid tumorEnrichmentAPC, CTNNB11.18
178Hyper ige syndromeEnrichmentPGM3, STAT31.18
179Anaplastic astrocytomaEnrichmentIDH2, TP531.18
180Combined oxidative phosphorylation deficiencyEnrichmentGFM1, RAB33A1.18
181Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC31.17
182Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC31.17
183Parkinson disease, late-onsetEnrichmentATXN3, EIF4G1, GBA1, MT-ND1, NR4A2, PRKN, SNCA1.17
184LissencephalyEnrichmentDYNC1H1, TUBA1A, TUBA3E, TUBB2B, TUBB31.14
185Familial hypercholesterolemiaEnrichmentAPOA2, APOB, APOE, PCSK91.13
186Rare genetic intellectual disabilityEnrichmentALG13, CREBBP, DNMT3A, EP3001.13
187Hereditary breast ovarian cancer syndromeEnrichmentBARD1, BLM, BRCA1, DCTN5, MEN1, MITF, PALB2, PTEN, RIPK1, TP531.12
188ThrombocytopeniaEnrichmentADAMTS13, F10, F8, FGG, GNE, MCFD2, PROS1, SMAD4, TUBB11.12
189LeukodystrophyEnrichmentARSA, HSPD1, KARS1, RAB33A, RARS1, U2AF21.11
190Multiple enchondromatosis, maffucci typeEnrichmentHIF1A, IDH2, VHL1.09
191Gallbladder cancerEnrichmentCTNNB1, SMAD4, TP531.09
192Marfan syndromeEnrichmentFBN1, TGFBR1, TGFBR21.05
193Amelogenesis imperfecta, type ieEnrichmentAMBN, AMELX, ENAM1.05
194GliosarcomaEnrichmentDNMT3A, NFKBIA, PPARG, TP531.04
195Isolated congenital microcephalyEnrichmentINO80, PHC1, RAB11A, TUBA3E1.04
196Colorectal cancerEnrichmentAMER1, APC, AURKA, AXIN2, BLM, BRCA1, DCTN5, EP300, FBXW7, NFE2L2, PALB2, PPARG, SMAD4, TP531.03
197Gastric cancerEnrichmentAPC, BARD1, BRCA1, CDKN2A, PALB2, PTEN, SMAD4, TP531.02
198Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP2, TRAF61.01
199Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN1, PRKCSH1.01
200Pervasive developmental disorderEnrichmentFBXW7, SPTBN11.01
201Polycystic liver disease 1EnrichmentFBN1, PRKCSH1.01
202Acute megakaryocytic leukemiaEnrichmentPTEN, TP531.01
203Free sialic acid storage disorderEnrichmentGNE, SLC17A51.01
204Rare pervasive developmental disorderEnrichmentFBXW7, SPTBN11.01
205Auditory neuropathyEnrichmentCDH2, KIF5A, MT-ND6, OPA1, RAB33A, RAB9B, TUBB4A1.01
206Lactic acidosisEnrichmentATP5F1A, DLD, KARS1, NDUFA130.99
20746 xx gonadal dysgenesisEnrichmentBMP15, MRPS22, NR5A1, NUP1070.99
208Familial thoracic aortic aneurysm and aortic dissectionEnrichmentASPH, FBN1, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR2, THSD40.98
209Giant cell glioblastomaEnrichmentDNMT3A, NFKBIA, PPARG, TP530.96
210Blepharophimosis, ptosis, and epicanthus inversusEnrichmentFOXL20.96
211Cole-carpenter syndrome 1EnrichmentP4HB0.96
212Palmoplantar keratoderma, punctate type iiEnrichmentBRCA10.96
213Elliptocytosis 2EnrichmentSPTA10.96
214Cataract 41EnrichmentWFS10.96
215Thrombophilia due to protein c deficiency, autosomal dominantEnrichmentPROC0.96
216Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN10.96
217Epidermolysis bullosa dystrophica, pretibialEnrichmentCOL7A10.96
218Epidermolysis bullosa dystrophica, autosomal dominantEnrichmentCOL7A10.96
219Perry syndromeEnrichmentDCTN10.96
220Cardiospondylocarpofacial syndromeEnrichmentMAP3K70.96
221Inclusion body myositisEnrichmentGNE0.96
222Paget disease of bone 3EnrichmentSQSTM10.96
223Factor vii deficiencyEnrichmentF70.96
224High molecular weight kininogen deficiencyEnrichmentKNG10.96
225Epidermolysis bullosa dystrophica, autosomal recessiveEnrichmentCOL7A10.96
226Fryns syndromeEnrichmentPIGN0.96
227Bloom syndromeEnrichmentBLM0.96
228Geleophysic dysplasia 1EnrichmentADAMTSL20.96
229Hypophosphatemic rickets, autosomal recessive, 1EnrichmentDMP10.96
230Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK10.96
231TorticollisEnrichmentACTL6A0.96
232Baraitser-winter syndrome 1EnrichmentACTB0.96
233Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A0.96
234Peroxisome biogenesis disorder 2aEnrichmentPEX50.96
235Sea-blue histiocyte diseaseEnrichmentAPOE0.96
236Congenital disorder of glycosylation, type iiaEnrichmentMGAT20.96
237Neuraminidase deficiencyEnrichmentNEU10.96
238Spermatogenic failure, x-linked, 6EnrichmentUSP260.96
239Prostate cancer, hereditary, x-linked 3EnrichmentAR0.96
240Wolfram syndrome 1EnrichmentWFS10.96
241Traboulsi syndromeEnrichmentASPH0.96
242Thrombophilia, x-linked, due to factor viii defectEnrichmentF80.96
243Vacterl association with hydrocephalusEnrichmentPTEN0.96
244Waisman syndromeEnrichmentRAB39B0.96
245Peroxisome biogenesis disorder 3bEnrichmentPEX120.96
246Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB30.96
247Deafness, autosomal dominant 6EnrichmentWFS10.96
248Androgen insensitivity, partialEnrichmentAR0.96
249Warfarin sensitivity, x-linkedEnrichmentF90.96
250Neurodevelopmental disorder with epilepsy and hemochromatosisEnrichmentPIGA0.96
251SialuriaEnrichmentGNE0.96
252Spermatogenic failure, x-linked, 9EnrichmentRBBP70.96
253Angioedema induced by ace inhibitorsEnrichmentXPNPEP20.96
254Congenital disorder of glycosylation, type ibEnrichmentMPI0.96
255Intellectual developmental disorder, x-linked 99EnrichmentUSP9X0.96
256Lethal short-limb skeletal dysplasia, al gazali typeEnrichmentADAMTSL20.96
257Incontinentia pigmentiEnrichmentIKBKG0.96
258Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndromeEnrichmentPIGL0.96
259Cardiac arrhythmia, ankyrin-b-relatedEnrichmentANK20.96
260Griscelli syndrome, type 2EnrichmentRAB27A0.96
261Microphthalmia, syndromic 8EnrichmentSNX30.96
262Multiple congenital anomalies-hypotonia-seizures syndrome 2EnrichmentPIGA0.96
263Holoprosencephaly 13, x-linkedEnrichmentSTAG20.96
264Raine syndromeEnrichmentFAM20C0.96
265Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC30.96
266Oligodontia-colorectal cancer syndromeEnrichmentAXIN20.96
267Spinocerebellar ataxia 5EnrichmentSPTBN20.96
268Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG0.96
269Congenital disorder of glycosylation, type iicEnrichmentSLC35C10.96
270Glaucoma 1, open angle, fEnrichmentASB100.96
271Cinca syndromeEnrichmentNLRP30.96
272Giant axonal neuropathy 2, autosomal dominantEnrichmentDCAF80.96
27346,xy sex reversal 5EnrichmentCBX20.96
274Congenital disorder of glycosylation, type iidEnrichmentB4GALT10.96
275Muscular dystrophy-dystroglycanopathy , type a, 6EnrichmentLARGE10.96
276Congenital disorder of glycosylation, type imEnrichmentDOLK0.96
277Nail disorder, nonsyndromic congenital, 8EnrichmentCOL7A10.96
278Keratoendotheliitis fugax hereditariaEnrichmentNLRP30.96
279Cardiomyopathy, dilated, 1xEnrichmentFKTN0.96
280AceruloplasminemiaEnrichmentCP0.96
281Parathyroid carcinomaEnrichmentCDC730.96
282Macular degeneration, age-related, 11EnrichmentCST30.96
283Char syndromeEnrichmentTFAP2B0.96
284Nemaline myopathy 6EnrichmentKBTBD130.96
285Tubulointerstitial kidney disease, autosomal dominant 2EnrichmentMUC10.96
286B-cell immunodeficiency, distal limb anomalies, and urogenital malformationsEnrichmentTOP2B0.96
287Melanoma, uveal 2EnrichmentBAP10.96
288Muscular dystrophy-dystroglycanopathy , type c, 15EnrichmentDPM30.96
289Craniolenticulosutural dysplasiaEnrichmentSEC23A0.96
290Intellectual developmental disorder, autosomal recessive 12EnrichmentST3GAL30.96
291Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC30.96
292Hypophosphatasia, adultEnrichmentALPL0.96
293Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiencyEnrichmentGGCX0.96
294Prothrombin deficiency, congenitalEnrichmentF20.96
295Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP0.96
296Dermatitis, atopic, 4EnrichmentSOCS30.96
297Transient bullous dermolysis of the newbornEnrichmentCOL7A10.96
298Skeletal defects, genital hypoplasia, and impaired intellectual developmentEnrichmentZBTB160.96
299Heterochromia iridisEnrichmentMITF0.96
300Hemolytic uremic syndrome, atypical 5EnrichmentC30.96
301Focal segmental glomerulosclerosis 4EnrichmentAPOL10.96
302Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC730.96
303Three m syndrome 3EnrichmentCCDC80.96
304Familial cold autoinflammatory syndrome 1EnrichmentNLRP30.96
305Lipoprotein glomerulopathyEnrichmentAPOE0.96
306Tietz albinism-deafness syndromeEnrichmentMITF0.96
307Hyperlipoproteinemia, type idEnrichmentGPIHBP10.96
308Congenital disorder of glycosylation, type iilEnrichmentCOG60.96
309Thrombophilia due to protein s deficiency, autosomal dominantEnrichmentPROS10.96
310Epidermolysis bullosa with congenital localized absence of skin and deformity of nailsEnrichmentCOL7A10.96
311Developmental and epileptic encephalopathy 5EnrichmentSPTAN10.96
312Multiple self-healing squamous epitheliomaEnrichmentTGFBR10.96
313Myasthenic syndrome, congenital, 14EnrichmentALG20.96
314Factor v and factor viii, combined deficiency of, 2EnrichmentMCFD20.96
315Muscular dystrophy-dystroglycanopathy , type a, 13EnrichmentB4GAT10.96
316Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyEnrichmentCD550.96
317Blood group, dombrock systemEnrichmentART40.96
318Factor v deficiencyEnrichmentF50.96
319Hypophosphatasia, childhoodEnrichmentALPL0.96
320Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG10.96
321Intellectual developmental disorder, autosomal recessive 37EnrichmentANK30.96
322Pseudohypoaldosteronism, type iieEnrichmentCUL30.96
323Congenital disorder of glycosylation, type iw, autosomal recessiveEnrichmentSTT3A0.96
324Spastic paraplegia 57, autosomal recessiveEnrichmentTFG0.96
325Fanconi anemia, complementation group tEnrichmentUBE2T0.96
326Peroxisome biogenesis disorder 3aEnrichmentPEX120.96
327Glucocorticoid resistance, generalizedEnrichmentNR3C10.96
328Blood group, cromer systemEnrichmentCD550.96
329Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB10.96
330Leprosy 2EnrichmentPRKN0.96
331Intellectual developmental disorder, autosomal recessive 13EnrichmentTRAPPC90.96
332Caudal duplication anomalyEnrichmentAXIN10.96
333Lissencephaly 5EnrichmentLAMB10.96
334Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D0.96
335Muscular dystrophy-dystroglycanopathy , type b, 1EnrichmentPOMT10.96
336Congenital disorder of glycosylation, type ihEnrichmentALG80.96
337Weill-marchesani syndrome 2EnrichmentFBN10.96
338Congenital disorder of glycosylation, type iaEnrichmentPMM20.96
339Congenital disorder of glycosylation, type iijEnrichmentCOG40.96
340Microcephaly 11, primary, autosomal recessiveEnrichmentPHC10.96
341Wolfram-like syndrome, autosomal dominantEnrichmentWFS10.96
342Muscular dystrophy, congenital, with rapid progressionEnrichmentBET10.96
34346,xx sex reversal 4EnrichmentNR5A10.96
344Deafness, autosomal dominant 56EnrichmentTNC0.96
345Thrombophilia due to protein s deficiency, autosomal recessiveEnrichmentPROS10.96
346Spermatogenic failure 8EnrichmentNR5A10.96
347Intellectual developmental disorder, autosomal recessive 52EnrichmentLMAN2L0.96
348Singleton-merten syndrome 1EnrichmentIFIH10.96
349Hyperphosphatasia with impaired intellectual development syndrome 2EnrichmentPIGO0.96
350Blau syndromeEnrichmentNOD20.96
351Hyperthyroxinemia, familial dysalbuminemicEnrichmentALB0.96
352Frontometaphyseal dysplasia 2EnrichmentMAP3K70.96
353Blood group, sid systemEnrichmentB4GALNT20.96
354Seckel syndrome 10EnrichmentNSMCE20.96
355Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB0.96
356Geleophysic dysplasia 2EnrichmentFBN10.96
357Muscular dystrophy-dystroglycanopathy , type a, 12EnrichmentPOMK0.96
358Accelerated tumor formationEnrichmentMDM20.96
359Cole-carpenter syndrome 2EnrichmentSEC24D0.96
360Retinitis pigmentosa 79EnrichmentHK10.96
361Protrusio acetabuliEnrichmentFBN10.96
362Hyperglycinemia, lactic acidosis, and seizuresEnrichmentLIAS0.96
363Pseudohypoaldosteronism, type iidEnrichmentKLHL30.96
364Protein z deficiencyEnrichmentPROZ0.96
365Thrombophilia due to activated protein c resistanceEnrichmentF50.96
366Amelogenesis imperfecta, type icEnrichmentENAM0.96
367Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD210.96
368Muckle-wells syndromeEnrichmentNLRP30.96
369AtransferrinemiaEnrichmentTF0.96
370Alopecia-intellectual disability syndrome 1EnrichmentAHSG0.96
371Congenital disorder of glycosylation, type iuEnrichmentDPM20.96
372Fetal akinesia deformation sequence 4EnrichmentNUP880.96
373Spastic cerebral palsyEnrichmentFBXO310.96
374Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC10.96
375Paroxysmal nocturnal hemoglobinuria 2EnrichmentPIGT0.96
376Halperin-birk syndromeEnrichmentSEC31A0.96
377Microcornea, myopic chorioretinal atrophy, and telecanthusEnrichmentADAMTS180.96
378Luo-schoch-yamamoto syndromeEnrichmentRNF20.96
379Corneal dystrophy, fuchs endothelial, 8EnrichmentAGBL10.96
380Congenital disorder of glycosylation, type iaaEnrichmentNUS10.96
381Shashi-pena syndromeEnrichmentASXL20.96
382Atrial fibrillation, familial, 15EnrichmentNUP1550.96
383Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM10.96
384Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA10.96
385Congenital disorder of glycosylation, type iiqEnrichmentCOG20.96
386Alpha-fetoprotein, hereditary persistence ofEnrichmentAFP0.96
387Proteasome-associated autoinflammatory syndrome 4EnrichmentPSMG20.96
388Muscular dystrophy-dystroglycanopathy , type b, 15EnrichmentDPM30.96
389Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesEnrichmentALG140.96
390Osteoporosis, childhood- or juvenile-onset, with developmental delayEnrichmentCOPB20.96
391Deafness, autosomal dominant 34, with or without inflammationEnrichmentNLRP30.96
392Immunodeficiency 107 invasive staphylococcus aureus infectionEnrichmentOTULIN0.96
393Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB10.96
394Polycystic kidney disease 7EnrichmentALG50.96
395Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB10.96
396Odontochondrodysplasia 2 with hearing loss and diabetesEnrichmentMIA30.96
397White-kernohan syndromeEnrichmentDDB10.96
398Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B0.96
399Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM10.96
400Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP540.96
401Nephrotic syndrome, type 19EnrichmentNUP1600.96
402Immunodeficiency 95EnrichmentIFIH10.96
403Maple syrup urine disease, type iiEnrichmentDBT0.96
404Parkinson disease 26, autosomal dominantEnrichmentRAB320.96
405Developmental and epileptic encephalopathy 107EnrichmentNAPB0.96
406Neurodevelopmental disorder with ataxia, hypotonia, and microcephalyEnrichmentSVBP0.96
407Chromosome 2q37 deletion syndromeEnrichmentHDAC40.96
408Bone marrow failure syndrome 4EnrichmentMYSM10.96
409Oocyte/zygote/embryo maturation arrest 14EnrichmentCDC200.96
410Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A0.96
411Hennekam lymphangiectasia-lymphedema syndrome 3EnrichmentADAMTS30.96
412Lessel-kubisch syndromeEnrichmentMDM20.96
413Intellectual developmental disorder, autosomal dominant 69EnrichmentLMAN2L0.96
414Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK20.96
415Bone marrow failure syndrome 6EnrichmentMDM40.96
416Mullegama-klein-martinez syndromeEnrichmentSTAG20.96
417Spastic paraplegia 93, autosomal recessiveEnrichmentNFU10.96
418Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW110.96
419Spherocytosis, type 3EnrichmentSPTA10.96
420Bone marrow failure syndrome 5EnrichmentTP530.96
421Blood group, lewis systemEnrichmentFUT30.96
422Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG0.96
423Thrombophilia, x-linked, due to factor ix defectEnrichmentF90.96
424Orofacial cleft 10EnrichmentSUMO10.96
425Frontotemporal dementia and/or amyotrophic lateral sclerosis 5EnrichmentCCNF0.96
426Gillessen-kaesbach-nishimura syndromeEnrichmentALG90.96
427Ovarian dysgenesis 2EnrichmentBMP150.96
428Progesterone resistanceEnrichmentPGR0.96
429Keratosis linearis with ichthyosis congenita and sclerosing keratodermaEnrichmentPOMP0.96
430Intellectual developmental disorder, x-linked, syndromic, nascimento typeEnrichmentUBE2A0.96
431Retinitis pigmentosa 59EnrichmentDHDDS0.96
432Stankiewicz-isidor syndromeEnrichmentPSMD120.96
433Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB0.96
434Developmental delay, dysmorphic facies, and brain anomaliesEnrichmentU2AF20.96
435Amelogenesis imperfecta, type iiibEnrichmentAMTN0.96
436Properdin deficiency, x-linkedEnrichmentCFP0.96
437Immunodeficiency, developmental delay, and hypohomocysteinemiaEnrichmentNFE2L20.96
438Charcot-marie-tooth disease type 2bEnrichmentRAB7A0.96
439Tn polyagglutination syndromeEnrichmentC1GALT1C10.96
440Microcephaly 19, primary, autosomal recessiveEnrichmentCOPB20.96
441Charcot-marie-tooth disease, axonal, type 2ggEnrichmentGBF10.96
442Ritscher-schinzel syndrome 2EnrichmentCCDC220.96
443Deafness, autosomal recessive 22EnrichmentOTOA0.96
444Chondrodysplasia punctata, brachytelephalangic, autosomalEnrichmentARSL0.96
445Congenital disorder of glycosylation, type iccEnrichmentMAGT10.96
446Saul-wilson syndromeEnrichmentCOG40.96
447Long qt syndrome 4EnrichmentANK20.96
448Hemolytic uremic syndrome, atypical, 8, with rhizomelic short statureEnrichmentC1GALT1C10.96
449Complement component 4a deficiencyEnrichmentC4A0.96
450Papilloma of choroid plexusEnrichmentTP530.96
451Microphthalmia, syndromic 6EnrichmentBMP40.96
452Adrenal cortical adenomaEnrichmentMEN10.96
453Vitamin k-dependent clotting factors, combined deficiency of, 1EnrichmentGGCX0.96
454Galloway-mowat syndrome 8EnrichmentNUP1330.96
455Basal cell carcinoma 7EnrichmentTP530.96
456Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST0.96
457Immunodeficiency 132aEnrichmentTRAF30.96
458Heyn-sproul-jackson syndromeEnrichmentDNMT3A0.96
459Lymphoplasmacytic lymphomaEnrichmentFBN10.96
460Intellectual developmental disorder, x-linked 72EnrichmentRAB39B0.96
461Imagawa-matsumoto syndromeEnrichmentSUZ120.96
462Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X0.96
463Type 1 diabetes mellitus 19EnrichmentIFIH10.96
464Immunodeficiency 132bEnrichmentTRAF30.96
465Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C0.96
466Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH20.96
467Anaplastic thyroid carcinomaEnrichmentTP530.96
468Multiple congenital anomalies-neurodevelopmental syndrome, x-linkedEnrichmentOTUD50.96
469Chondrodysplasia punctata 1, x-linked recessiveEnrichmentARSL0.96
470Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN20.96
471Orofacial cleft 11EnrichmentBMP40.96
472Angioedema, hereditary, 6EnrichmentKNG10.96
473Infant-type hemispheric gliomaEnrichmentBRCA10.96
474Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN10.96
475Nephrotic syndrome, type 13EnrichmentNUP2050.96
476Syndromic x-linked intellectual disability nascimento typeEnrichmentUBE2A0.96
477Aortic aneurysm, familial thoracic 12EnrichmentTHSD40.96
478Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancyEnrichmentNR3C20.96
479Papillary tumor of the pineal regionEnrichmentPTEN0.96
480Giant axonal neuropathy 2EnrichmentDCAF80.96
481Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF0.96
482Familial apolipoprotein a5 deficiencyEnrichmentAPOA50.96
483Colorectal cancer 1EnrichmentGALNT120.96
484Muscular dystrophy-dystroglycanopathy , type b, 6EnrichmentLARGE10.96
485Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC30.96
486Spinocerebellar ataxia 26EnrichmentEEF20.96
487Alzheimer disease 18EnrichmentADAM100.96
488Rhizomelic dysplasia, ain-naz typeEnrichmentGNPNAT10.96
489Intellectual developmental disorder, autosomal recessive 45EnrichmentFBXO310.96
490Riddle syndromeEnrichmentRNF1680.96
491Muscular dystrophy-dystroglycanopathy , type b, 5EnrichmentFKRP0.96
492Thrombophilia due to protein c deficiency, autosomal recessiveEnrichmentPROC0.96
493Developmental and epileptic encephalopathy 55EnrichmentPIGP0.96
494Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG10.96
495Kahrizi syndromeEnrichmentSRD5A30.96
496Motor peripheral neuropathyEnrichmentAGTPBP10.96
497Hypercholesterolemia, familial, 3EnrichmentPCSK90.96
498Three m syndrome 2EnrichmentOBSL10.96
499Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matterEnrichmentRAB11B0.96
500Congenital disorder of glycosylation, type icEnrichmentALG60.96
501Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophyEnrichmentTRAPPC6B0.96
502Congenital disorder of glycosylation, type iifEnrichmentSLC35A10.96
503Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK10.96
504Proteasome-associated autoinflammatory syndrome 2EnrichmentPOMP0.96
505Epidermolysis bullosa pruriginosaEnrichmentCOL7A10.96
506Muscular dystrophy-dystroglycanopathy , type c, 1EnrichmentPOMT10.96
507Cerebral amyloid angiopathy, app-relatedEnrichmentAPP0.96
508Intellectual developmental disorder with short stature, facial anomalies, and speech defectsEnrichmentFBXL30.96
509Microcephaly 24, primary, autosomal recessiveEnrichmentNUP370.96
510Becker nevus syndromeEnrichmentACTB0.96
511Neurodegeneration due to cerebral folate transport deficiencyEnrichmentFOLR10.96
512Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN10.96
513Birdshot chorioretinopathyEnrichmentHLA-A0.96
514Parkinson disease 7, autosomal recessive early-onsetEnrichmentPARK70.96
515Galloway-mowat syndrome 7EnrichmentNUP1070.96
516Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK10.96
517Epilepsy, familial adult myoclonic, 3EnrichmentMARCHF60.96
518Dystonia-deafness syndrome 1EnrichmentACTB0.96
519Hyperpigmentation, familial progressive, 1EnrichmentSPTA10.96
520Antithrombin iii deficiencyEnrichmentSERPINC10.96
521Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR20.96
522Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH20.96
523Retinitis pigmentosa 31EnrichmentTOPORS0.96
524Mungan syndromeEnrichmentRAD210.96
525Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B0.96
526Erythrocytosis, familial, 4EnrichmentEPAS10.96
527Retinal arterial macroaneurysm with supravalvular pulmonic stenosisEnrichmentIGFBP70.96
528Muscular dystrophy-dystroglycanopathy , type a, 5EnrichmentFKRP0.96
529Peroxisome biogenesis disorder 6aEnrichmentPEX100.96
530Blood group, chido/rodgers systemEnrichmentC4A0.96
531Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC20.96
532Complement component 4b deficiencyEnrichmentC4B0.96
533Developmental delay with hypotonia, myopathy, and brain abnormalitiesEnrichmentGOLGA20.96
534Congenital disorder of glycosylation, type irEnrichmentDDOST0.96
535Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC0.96
536Multiple congenital anomalies-hypotonia-seizures syndrome 4EnrichmentPIGQ0.96
537Congenital disorder of glycosylation, type iiaaEnrichmentSTX50.96
538Arthrogryposis, distal, type 12EnrichmentADAMTS150.96
539Peroxisome biogenesis disorder 6bEnrichmentPEX100.96
540Amelogenesis imperfecta, type ifEnrichmentAMBN0.96
541Tan-almurshedi syndromeEnrichmentDRG10.96
542Shaheen syndromeEnrichmentCOG60.96
543Long qt syndrome 16EnrichmentCALM30.96
544Muscular dystrophy-dystroglycanopathy , type a, 10EnrichmentRXYLT10.96
545Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB90.96
546Congenital disorder of glycosylation, type iitEnrichmentGALNT20.96
547Nephrotic syndrome, type 12EnrichmentNUP930.96
548Developmental delay with short stature, dysmorphic facial features, and sparse hair 1EnrichmentDPH10.96
549Mitochondrial dna depletion syndrome 13EnrichmentFBXL40.96
550Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A0.96
551Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndromeEnrichmentMBTPS10.96
552Reticulate acropigmentation of kitamuraEnrichmentADAM100.96
553Nemaline myopathy 9EnrichmentKLHL410.96
554Short stature-micrognathia syndromeEnrichmentARCN10.96
555Porokeratosis 7, multiple typesEnrichmentMVD0.96
556Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A0.96
557Premature ovarian failure 7EnrichmentNR5A10.96
558Cone-rod dystrophy 19EnrichmentTTLL50.96
559Ataxia-telangiectasia-like disorder 2EnrichmentPCNA0.96
560Alpha-fetoprotein deficiencyEnrichmentAFP0.96
561Congenital disorder of glycosylation, type 2vEnrichmentEDEM30.96
562Alpha-1-antitrypsin deficiencyEnrichmentSERPINA10.96
563Loeys-dietz syndrome 6EnrichmentSMAD20.96
564Multiple congenital anomalies-hypotonia-seizures syndrome 3EnrichmentPIGT0.96
565Colorectal cancer 3EnrichmentSMAD70.96
566Thyroid gland diseaseEnrichmentCOL7A10.96
567Hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathyEnrichmentCD590.96
568Macular degeneration, age-related, 9EnrichmentC30.96
569Muscular dystrophy-dystroglycanopathy , type b, 4EnrichmentFKTN0.96
570Blood group, emm systemEnrichmentPIGG0.96
571Muscular dystrophy-dystroglycanopathy , type c, 4EnrichmentFKTN0.96
572Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG10.96
573Cdc73-related disordersEnrichmentCDC730.96
574Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairmentEnrichmentDOHH0.96
575Parkinson disease 5, autosomal dominantEnrichmentUCHL10.96
576Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H40.96
577Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalitiesEnrichmentFEM1B0.96
578Glioma susceptibility 2EnrichmentPTEN0.96
579Warburg micro syndrome 3EnrichmentRAB180.96
580Deafness, autosomal dominant 85EnrichmentUSP480.96
581Lymphatic malformation 13EnrichmentTHSD10.96
582Complement component 3 deficiency, autosomal recessiveEnrichmentC30.96
583Pregnancy loss, recurrent 2EnrichmentF20.96
584Ductal carcinoma in situEnrichmentTP530.96
585Nephrotic syndrome, type 11EnrichmentNUP1070.96
586Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP0.96
587Congenital disorder of deglycosylation 1EnrichmentNGLY10.96
588Protein s deficiencyEnrichmentPROS10.96
589Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF230.96
590Retinitis pigmentosa 75EnrichmentAGBL50.96
591Patent ductus arteriosus 2EnrichmentTFAP2B0.96
592Deafness, autosomal dominant 75EnrichmentTRRAP0.96
593Dync1h1-related disordersEnrichmentDYNC1H10.96
594Developmental and epileptic encephalopathy 95EnrichmentPIGS0.96
595Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalitiesEnrichmentPGAP10.96
596Mbd5 haploinsufficiencyEnrichmentMBD50.96
597Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP10.96
598Cog4-congenital disorder of glycosylationEnrichmentCOG40.96
599Neuronopathy, distal hereditary motor, autosomal recessive 7EnrichmentVWA10.96
600Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL30.96
601Singleton-merten syndrome 2EnrichmentRIGI0.96
602Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessiveEnrichmentOTULIN0.96
6038p11.2 deletion syndromeEnrichmentANK10.96
604Cutis laxa, autosomal recessive, type iieEnrichmentLTBP10.96
605Encephalopathy, acute, infection-induced 9EnrichmentNUP2140.96
606Autoinflammation and autoimmunity, systemic, with immune dysregulationEnrichmentCOPA0.96
607Spherocytosis, type 2EnrichmentSPTB0.96
608Xq25 microduplication syndromeEnrichmentSTAG20.96
609Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA0.96
610Sandestig-stefanova syndromeEnrichmentNUP1880.96
611Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB60.96
612Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA10.96
613Congenital analbuminemiaEnrichmentALB0.96
614Ovarian dysgenesis 6EnrichmentNUP1070.96
615Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB20.96
616Prenatal benign hypophosphatasiaEnrichmentALPL0.96
617Intellectual developmental disorder, autosomal dominant 55, with seizuresEnrichmentNUS10.96
618Developmental delay and seizures with or without movement abnormalitiesEnrichmentDHDDS0.96
619Faundes-banka syndromeEnrichmentEIF5A0.96
620Combined low ldl and fibrinogenEnrichmentB4GALT10.96
621Muscular dystrophy-dystroglycanopathy , type c, 8EnrichmentPOMGNT20.96
622Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR0.96
623Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB0.96
624Dystonia 33EnrichmentEIF2AK20.96
625Menke-hennekam syndrome 1EnrichmentCREBBP0.96
626Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyEnrichmentTRAPPC40.96
627Nephrotic syndrome, type 18EnrichmentNUP1330.96
628Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC40.96
629Neurodevelopmental disorder with hypotonia and seizuresEnrichmentOTUD7A0.96
630Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonismEnrichmentNR4A20.96
631Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L0.96
632Turnpenny-fry syndromeEnrichmentPCGF20.96
633Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotoniaEnrichmentNTNG20.96
634Tayoun-maawali syndromeEnrichmentFBXO220.96
635Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP0.96
636Baralle-macken syndromeEnrichmentCOPB10.96
637Neurodevelopmental disorder with microcephaly and structural brain anomaliesEnrichmentDYNC1I20.96
638Pseudo-torch syndrome 2EnrichmentUSP180.96
639Brachycephaly, trichomegaly, and developmental delayEnrichmentRPS230.96
640Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentPIGF0.96
641Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK10.96
642Congenital disorder of glycosylation, type iiccEnrichmentUGGT10.96
643Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA0.96
644Aneurysm, intracranial berry, 12EnrichmentTHSD10.96
645Polycystic liver disease 3 with or without kidney cystsEnrichmentALG80.96
646Mucopolysaccharidosis, type xEnrichmentARSK0.96
647Elliptocytosis 3EnrichmentSPTB0.96
648Multisystem proteinopathyEnrichmentVCP0.96
649Griscelli syndromeEnrichmentRAB27A0.96
650Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA10.96
651Den hoed-de boer-voisin syndromeEnrichmentSATB10.96
652Recessive dystrophic epidermolysis bullosa-generalized otherEnrichmentCOL7A10.96
653Congenital disorder of glycosylation with defective fucosylation 2EnrichmentFCSK0.96
654Thyroid gland undifferentiated carcinomaEnrichmentTP530.96
655Autosomal recessive spastic paraplegia type 60EnrichmentWDR480.96
656Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN10.96
657Factor v atlanta bleeding disorderEnrichmentF50.96
658Neurodevelopmental disorder with brain anomalies, seizures, and scoliosisEnrichmentPIGU0.96
659Intellectual developmental disorder, autosomal dominant 74EnrichmentHNRNPC0.96
660Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC30.96
661Rhizomelic chondrodysplasia punctata, type 5EnrichmentPEX50.96
662Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD20.96
663Warburg micro syndrome 4EnrichmentTBC1D200.96
664Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA80.96
665Immature teratoma of ovaryEnrichmentBMP150.96
666Aicardi-goutieres syndrome 7EnrichmentIFIH10.96
667Neurodevelopmental disorder with microcephaly, short stature, and speech delayEnrichmentTRAPPC100.96
668Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP530.96
669Attention deficit-hyperactivity disorder 8EnrichmentCDH20.96
670AnalbuminemiaEnrichmentALB0.96
671Complement component 3 deficiencyEnrichmentC30.96
672Developmental delay, hypotonia, and impaired languageEnrichmentFBXW70.96
673Atelis syndrome 2EnrichmentSMC50.96
674Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN10.96
675Developmental delay with or without epilepsyEnrichmentSPTAN10.96
676Long qt syndrome 15EnrichmentCALM20.96
677Cardiac valvular dysplasia 2EnrichmentADAMTS190.96
678Klhl9-related early-onset distal myopathyEnrichmentKLHL90.96
679Baraitser-winter syndromeEnrichmentACTB0.96
680Orofaciodigital syndrome xxEnrichmentRAB340.96
681Autosomal dominant tubulointerstitial kidney disease - umodEnrichmentUMOD0.96
682Lissencephaly due to tuba1a mutationEnrichmentTUBA1A0.96
683Cdkn2a cancer predispositionEnrichmentCDKN2A0.96
684Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG0.96
685Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaEnrichmentNAE10.96
686Heritable thoracic aortic diseaseEnrichmentSMAD40.96
687Multiple congenital anomalies-hypotonia-seizures syndromeEnrichmentPIGN0.96
688Congenital myopathy 26EnrichmentTUBA4A0.96
689Congenital disorder of glycosylation iwEnrichmentSTT3A0.96
690Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A0.96
691Ngly1-related congenital disorder of deglycosylationEnrichmentNGLY10.96
692Thrombocytopenia 12 with or without myopathyEnrichmentGNE0.96
693Adult-onset distal myopathy due to vcp mutationEnrichmentVCP0.96
694Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP30.96
695Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP0.96
696Progressive myoclonus epilepsy 3EnrichmentKCTD70.96
697Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A0.96
698Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN10.96
699Congenital disorder of glycosylation, type iibbEnrichmentCOG30.96
700Congenital fibrinogen deficiencyEnrichmentFGG0.96
701Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X0.96
702Autosomal recessive spastic paraplegia type 59EnrichmentUSP80.96
703Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominantEnrichmentOTULIN0.96
704RicketsEnrichmentVDR0.96
705Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndromeEnrichmentMYSM10.96
706Body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiencyEnrichmentGGCX0.96
707Lipoic acid synthetase deficiencyEnrichmentLIAS0.96
708Epilepsy, idiopathic generalized 19EnrichmentUSP250.96
709Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP530.96
710Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathyEnrichmentCST30.96
711Neurodegenerative syndrome due to cerebral folate transport deficiencyEnrichmentFOLR10.96
712Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutationEnrichmentSERPINA10.96
713Paroxysmal nocturnal hemoglobinuriaEnrichmentPIGA0.96
714Multiple paragangliomas associated with polycythemiaEnrichmentEPAS10.96
715X-linked chondrodysplasia punctata 1EnrichmentARSL0.96
716Chromosome 15q24 deletion syndromeEnrichmentSIN3A0.96
717Syndromic recessive x-linked ichthyosisEnrichmentSTS0.96
718Factor v leiden thrombophiliaEnrichmentF50.96
719Pseudohyperaldosteronism type 2EnrichmentNR3C20.96
720Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaEnrichmentTHRA0.96
721Wolfram-like syndromeEnrichmentWFS10.96
722Prothrombin deficiencyEnrichmentF20.96
723Basal cell carcinomaEnrichmentPALB20.96
724Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM10.96
725Aquagenic palmoplantar keratodermaEnrichmentCFTR0.96
726Membranoproliferative glomerulonephritisEnrichmentC30.96
727Choroid plexus cancerEnrichmentTP530.96
728Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA80.96
729Primary membranoproliferative glomerulonephritisEnrichmentC30.96
730Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM10.96
731Severe hereditary thrombophilia due to congenital protein c deficiencyEnrichmentPROC0.96
732Wilms tumor 7EnrichmentTRIM280.96
733Protein c deficiencyEnrichmentPROC0.96
734Familial adenomatous polyposisEnrichmentAPC0.96
735Neonatal alloimmune neutropeniaEnrichmentFCGR3B0.96
736Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeEnrichmentADAMTSL10.96
737Protein-losing enteropathyEnrichmentCD550.96
738Adrenal adenomaEnrichmentMEN10.96
739Autosomal recessive ataxia due to pex10 deficiencyEnrichmentPEX100.96
740Complete androgen insensitivity syndromeEnrichmentAR0.96
741Congenital smooth muscle hamartomaEnrichmentACTB0.96
742Hemophilia b leydenEnrichmentF90.96
743Glb1-related disordersEnrichmentGLB10.96
744Giant axonal neuropathyEnrichmentGAN0.96
745Localized dystrophic epidermolysis bullosa, acral formEnrichmentCOL7A10.96
746Developmental malformations-deafness-dystonia syndromeEnrichmentACTB0.96
747Menke-hennekam syndromeEnrichmentCREBBP0.96
748Immunodeficiency 128EnrichmentCOPG10.96
749Cryopyrin associated periodic syndromeEnrichmentNLRP30.96
750Pleomorphic xanthoastrocytomaEnrichmentTP530.96
751Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA20.96
752Cog6-congenital disorder of glycosylationEnrichmentCOG60.96
753Familial amyloid nephropathy with urticaria and deafnessEnrichmentNLRP30.96
754Familial acute necrotizing encephalopathyEnrichmentRANBP20.96
755Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG10.96
756Neonatal marfan syndromeEnrichmentFBN10.96
757Factor v amsterdam bleeding disorderEnrichmentF50.96
758Gardner syndromeEnrichmentAPC0.96
759Recessive dystrophic epidermolysis bullosa inversaEnrichmentCOL7A10.96
760Hereditary thrombophilia due to congenital protein s deficiencyEnrichmentPROS10.96
761Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaEnrichmentGGCX0.96
762Extrinsic allergic alveolitisEnrichmentMUC5B0.96
7635q22 microdeletion syndromeEnrichmentAPC0.96
764Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN0.96
765Attenuated familial adenomatous polyposisEnrichmentAPC0.96
766Resistance to thyroid hormone due to a mutation in thyroid hormone receptor betaEnrichmentTHRB0.96
767Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG0.96
768Cathepsin a-related arteriopathy-strokes-leukoencephalopathyEnrichmentCTSA0.96
769Congenital factor vii deficiencyEnrichmentF70.96
770Alpi-related inflammatory bowel diseaseEnrichmentALPI0.96
771Stromal corneal dystrophyEnrichmentSPARCL10.96
772Aapoaii amyloidosisEnrichmentAPOA20.96
773St3gal3-cdgEnrichmentST3GAL30.96
774Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB10.96
775Autosomal recessive ataxia due to pex2 deficiencyEnrichmentPEX20.96
776Wfs1 spectrum disorderEnrichmentWFS10.96
777Generalized resistance to thyroid hormoneEnrichmentTHRB0.96
778Autosomal recessive spastic paraplegia type 66EnrichmentARSI0.96
779Generalized dominant dystrophic epidermolysis bullosaEnrichmentCOL7A10.96
780Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeEnrichmentCOG60.96
781Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeEnrichmentTRAPPC90.96
782Primary peritoneal carcinomaEnrichmentBRCA10.96
783Isolated congenital megalocorneaEnrichmentCHRDL10.96
784Man1b1-congenital disorder of glycosylationEnrichmentMAN1B10.96
785Retinal hemangioblastomaEnrichmentVHL0.96
786Autosomal recessive spastic paraplegia type 67EnrichmentPGAP10.96
787Interstitial lung disease 2EnrichmentABCA3, MUC5B, SFTPA1, SFTPA2, SFTPC0.95
788Pectus excavatumEnrichmentARF3, FBN1, TGFBR10.95
78946,xy complete gonadal dysgenesisEnrichmentAR, CBX2, NR5A10.95
790Uterine corpus cancerEnrichmentBRCA1, PALB2, PTEN0.95
791Peripheral nervous system diseaseEnrichmentAARS1, DYNC1H1, GAN, HARS1, IARS2, KIF5A, MME, NGLY10.94
792NeuropathyEnrichmentAARS1, DYNC1H1, GAN, HARS1, IARS2, KIF5A, MME, NGLY10.94
793Isolated atp synthase deficiencyEnrichmentATP5F1A, MT-ATP6, MT-ATP80.94
794Difference of sex developmentEnrichmentAR, NR5A1, TBCE0.94
795Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, FH, TP53, VDR0.94
796Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentLONP1, PDHA10.93
797Leptin deficiency or dysfunctionEnrichmentLEP, PPARG0.93
798Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentPTRH2, YARS10.93
799CraniopharyngiomaEnrichmentAPC, CTNNB10.93
800Hereditary recurrent myoglobinuriaEnrichmentMT-CO1, MT-CO30.93
801Complex hereditary spastic paraplegiaEnrichmentPRKN, SORL10.93
802Autosomal recessive isolated optic atrophyEnrichmentACO2, YME1L10.93
803Mitochondrial complex i deficiency, nuclear type 1EnrichmentERCC8, MT-ND1, MT-ND2, MT-ND3, MT-ND4, NDUFA13, NDUFS1, NDUFS3, NDUFV10.90
804Systemic lupus erythematosusEnrichmentC4A, C4B, FCGR3B, SPP1, TNFAIP3, TNIP1, UBE2L30.88
805Cerebral palsyEnrichmentF2, F8, KLHL3, PMM2, PROC, TUBA1A, TUBB4A0.88
806Alzheimer's diseaseEnrichmentAPOE, APP, MT-ND1, VCP0.88
807Protein-deficiency anemiaEnrichmentRPL11, RPS26, SPTA1, SPTB0.88
808Pancreatic cancerEnrichmentBRCA1, CDKN2A, PALB2, SMAD4, TP530.87
809Osteogenesis imperfecta, type iEnrichmentP4HB, SEC24D0.87
810Wolf-hirschhorn syndromeEnrichmentCTBP1, PIGG0.87
811Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3000.87
812Metachromatic leukodystrophyEnrichmentARSA, ARSB0.87
813Type 1 diabetes mellitusEnrichmentIL6, INS0.87
814Wiedemann-steiner syndromeEnrichmentSMC1A, SMC30.87
815Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3000.87
816Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB10.87
817Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentANK2, CALM10.87
818Inguinal herniaEnrichmentACTL6A, FBN10.87
819Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK1, TGFB10.87
820HypertrichosisEnrichmentASXL1, CREBBP0.87
82146,xy disorder of sex developmentEnrichmentADAMTS16, NR5A10.87
822Glycine encephalopathyEnrichmentGCSH, NICN10.87
823Ovarian cancerEnrichmentAPC, AR, AXIN2, BARD1, BLM, BRCA1, CDKN2A, MUC16, OPCML, PALB2, PRKN, PTEN, TP53, WRN, XPC0.85
824Diffuse large b-cell lymphomaEnrichmentCREBBP, DNMT3A, PTEN, TP530.83
825Autosomal recessive limb-girdle muscular dystrophyEnrichmentFKRP, POMGNT1, POMT1, POMT20.83
826Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, TP530.81
827TrichothiodystrophyEnrichmentAARS1, CARS1, TARS10.81
828Carpal tunnel syndrome 1EnrichmentTTR0.81
829Corneal dystrophy, epithelial basement membraneEnrichmentTGFBI0.81
830Hereditary leiomyomatosis and renal cell cancerEnrichmentFH0.81
831Hyperthyroxinemia, dystransthyretinemicEnrichmentTTR0.81
832Corneal dystrophy, groenouw type iEnrichmentTGFBI0.81
833Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA110.81
834Cerebral amyloid angiopathy, itm2b-related, 1EnrichmentITM2B0.81
835Sneddon syndromeEnrichmentADA20.81
836Parkinson disease 1, autosomal dominantEnrichmentSNCA0.81
837Hypoparathyroidism-retardation-dysmorphism syndromeEnrichmentTBCE0.81
838Leukodystrophy, hypomyelinating, 3EnrichmentAIMP10.81
8393-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHADH0.81
840D-lactic aciduria with goutEnrichmentLDHD0.81
841Oxoglutarate dehydrogenase deficiencyEnrichmentOGDH0.81
842Hsd10 mitochondrial diseaseEnrichmentHSD17B100.81
843Congenital disorder of glycosylation, type iyEnrichmentSSR40.81
844Ataxia and polyneuropathy, adult-onsetEnrichmentMT-ATP60.81
845Pulmonary alveolar microlithiasisEnrichmentSLC34A20.81
846Intellectual developmental disorder, x-linked, syndromic 35EnrichmentRPL100.81
847Surfactant metabolism dysfunction, pulmonary, 4EnrichmentCSF2RA0.81
848Spastic paraplegia 9a, autosomal dominantEnrichmentALDH18A10.81
849Corneal dystrophy, avellino typeEnrichmentTGFBI0.81
850Asplenia, isolated congenitalEnrichmentRPSA0.81
851Epilepsy, familial adult myoclonic, 2EnrichmentSTARD70.81
852Spastic paraplegia 10, autosomal dominantEnrichmentKIF5A0.81
853Congenital disorder of glycosylation, type iirEnrichmentATP6AP20.81
854Pontocerebellar hypoplasia, type 6EnrichmentRARS20.81
855Mitochondrial complex i deficiency, mitochondrial type 1EnrichmentMT-ND30.81
856Myoglobinuria, recurrentEnrichmentMT-CO10.81
857Codas syndromeEnrichmentLONP10.81
858Myopathy, lactic acidosis, and sideroblastic anemia 3EnrichmentMT-ATP60.81
859Parkinson disease 13, autosomal dominantEnrichmentHTRA20.81
860Fumarase deficiencyEnrichmentFH0.81
861Combined oxidative phosphorylation deficiency 2EnrichmentMRPS160.81
862Diamond-blackfan anemia 10EnrichmentRPS260.81
863Isobutyryl-coa dehydrogenase deficiencyEnrichmentACAD80.81
864Surfactant metabolism dysfunction, pulmonary, 2EnrichmentSFTPC0.81
8652-methylbutyryl-coa dehydrogenase deficiencyEnrichmentACADSB0.81
866Combined oxidative phosphorylation deficiency 4EnrichmentTUFM0.81
867Rajab interstitial lung disease with brain calcifications 1EnrichmentFARSB0.81
868Optic atrophy 13 with retinal and foveal abnormalitiesEnrichmentSSBP10.81
869Cerebral amyloid angiopathy, itm2b-related, 2EnrichmentITM2B0.81
870Infantile liver failure syndrome 1EnrichmentLARS10.81
871Acne inversa, familial, 1EnrichmentNCSTN0.81
872Periventricular heterotopia with microcephaly, autosomal recessiveEnrichmentARFGEF20.81
873Amyloidosis, hereditary systemic 1EnrichmentTTR0.81
874Hypotrichosis 12EnrichmentRPL210.81
875Charcot-marie-tooth disease, dominant intermediate cEnrichmentYARS10.81
876Spastic ataxia 5, autosomal recessiveEnrichmentAFG3L20.81
877Corneal dystrophy, lattice type iEnrichmentTGFBI0.81
878Yt blood group antigenEnrichmentACHE0.81
8792,4-dienoyl-coa reductase deficiencyEnrichmentNADK20.81
880Diamond-blackfan anemia 13EnrichmentRPS290.81
881Parkinson disease 18, autosomal dominantEnrichmentEIF4G10.81
882Developmental and epileptic encephalopathy 29EnrichmentAARS10.81
883Succinyl-coa:3-oxoacid-coa transferase deficiencyEnrichmentOXCT10.81
884Parkinson disease 4, autosomal dominantEnrichmentSNCA0.81
885Spinocerebellar ataxia 43EnrichmentMME0.81
886Combined oxidative phosphorylation deficiency 21EnrichmentTARS20.81
887Cutis laxa, autosomal recessive, type iiiaEnrichmentALDH18A10.81
888Even-plus syndromeEnrichmentHSPA90.81
889Griscelli syndrome, type 1EnrichmentMYO5A0.81
890Immunodeficiency 43EnrichmentB2M0.81
891Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD0.81
892Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A0.81
893Bone marrow failure syndrome 1EnrichmentSRP720.81
894Dyskeratosis congenita, autosomal recessive 3EnrichmentWRAP530.81
895Kenny-caffey syndrome, type 1EnrichmentTBCE0.81
896Fanconi renotubular syndrome 2EnrichmentSLC34A10.81
897Anemia, sideroblastic, 4EnrichmentHSPA90.81
898Diamond-blackfan anemia 7EnrichmentRPL110.81
899Atrioventricular septal defect 4EnrichmentGATA40.81
900Microvascular complications of diabetes 3EnrichmentACE0.81
901Atrioventricular septal defect 5EnrichmentGATA60.81
902Sturge-weber syndromeEnrichmentGNAQ0.81
903Diamond-blackfan anemia 18EnrichmentRPL180.81
904Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent languageEnrichmentEEF1D0.81
905Developmental and epileptic encephalopathy 75EnrichmentPARS20.81
906Bdv syndromeEnrichmentCPE0.81
907Angioedema, hereditary, 4EnrichmentPLG0.81
908Spondyloepimetaphyseal dysplasia, isidor-toutain typeEnrichmentRPL130.81
909Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB20.81
910Interstitial lung disease 1EnrichmentSFTPA10.81
911Corneal dystrophy, thiel-behnke typeEnrichmentTGFBI0.81
912Spermatogenic failure 63EnrichmentRPL10L0.81
913Encephalopathy, progressive, with amyotrophy and optic atrophyEnrichmentTBCE0.81
914Parkinsonism-dystonia 3, childhood-onsetEnrichmentWARS20.81
915Retinitis pigmentosa 90EnrichmentIDH3A0.81
916Mehmo syndromeEnrichmentEIF2S30.81
917Neurodevelopmental disorder with microcephaly, ataxia, and seizuresEnrichmentSARS10.81
918Combined oxidative phosphorylation deficiency 34EnrichmentMRPS70.81
919Spastic paraplegia 9b, autosomal recessiveEnrichmentALDH18A10.81
920Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B30.81
921Autism x-linked 5EnrichmentRPL100.81
922Drug metabolism, altered, ces1-relatedEnrichmentCES10.81
923Parkinsonism with spasticity, x-linkedEnrichmentATP6AP20.81
924Charcot-marie-tooth disease, axonal, type 2dEnrichmentGARS10.81
925Diamond-blackfan anemia 20EnrichmentRPS15A0.81
926Intellectual developmental disorder with polymicrogyria and seizuresEnrichmentTCP10.81
927Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA40.81
928Mitochondrial complex i deficiency, nuclear type 8EnrichmentNDUFS30.81
929Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB0.81
930Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessiveEnrichmentCCT50.81
931Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3EnrichmentTWNK0.81
932Combined oxidative phosphorylation deficiency 12EnrichmentEARS20.81
933Intellectual developmental disorder, x-linked, syndromic, hedera typeEnrichmentATP6AP20.81
934Autism 19EnrichmentEIF4E0.81
935Diamond-blackfan anemia 3EnrichmentRPS240.81
936Mitochondrial complex v deficiency, nuclear type 4bEnrichmentATP5F1A0.81
937T-cell large granular lymphocyte leukemiaEnrichmentSTAT30.81
938OncocytomaEnrichmentMT-ND60.81
939Epithelial-stromal tgfbi dystrophyEnrichmentTGFBI0.81
940Acid-labile subunit deficiencyEnrichmentIGFALS0.81
941Dialysis-related amyloidosisEnrichmentB2M0.81
942Hypercalcemia, infantile, 2EnrichmentSLC34A10.81
943Diamond-blackfan anemia 8EnrichmentRPS70.81
944Tubulointerstitial kidney disease, autosomal dominant 5EnrichmentSEC61A10.81
945Charcot-marie-tooth disease, recessive intermediate bEnrichmentKARS10.81
946Sudden cardiac failure, infantileEnrichmentPPA20.81
947Myoclonus, intractable, neonatalEnrichmentKIF5A0.81
948Combined oxidative phosphorylation deficiency 51EnrichmentPTCD30.81
949Syndromic x-linked intellectual disability type 10EnrichmentHSD17B100.81
950Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesEnrichmentNARS10.81
951Autosomal recessive sensory neuropathy with spastic paraplegiaEnrichmentCCT50.81
952Prolonged electroretinal response suppression 1EnrichmentRGS90.81
953Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationEnrichmentDARS20.81
954Spinocerebellar ataxia 28EnrichmentAFG3L20.81
955Combined oxidative phosphorylation deficiency 3EnrichmentTSFM0.81
956Cutis laxa, autosomal dominant 3EnrichmentALDH18A10.81
957Combined oxidative phosphorylation deficiency 27EnrichmentCARS20.81
958Ovary adenocarcinomaEnrichmentINHBA0.81
959Alcohol sensitivity, acuteEnrichmentALDH20.81
960Growth retardation, impaired intellectual development, hypotonia, and hepatopathyEnrichmentIARS10.81
961Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB50.81
962Perrault syndrome 5EnrichmentTWNK0.81
963Leukodystrophy, hypomyelinating, 9EnrichmentRARS10.81
964Leiomyoma cutisEnrichmentFH0.81
965Hyperinsulinemic hypoglycemia, familial, 6EnrichmentGLUD10.81
966Gemistocytic astrocytomaEnrichmentIDH20.81
967Protoplasmic astrocytomaEnrichmentIDH20.81
968Corneal dystrophy, lattice type iiiaEnrichmentTGFBI0.81
969Amyotrophic lateral sclerosis 25EnrichmentKIF5A0.81
970Spastic paraplegia 13, autosomal dominantEnrichmentHSPD10.81
971Charcot-marie-tooth disease, axonal, type 2nEnrichmentAARS10.81
972Corneal dystrophy, reis-bucklers typeEnrichmentTGFBI0.81
973Body mass index quantitative trait locus 10EnrichmentFFAR40.81
974Atrial septal defect 2EnrichmentGATA40.81
975Granular corneal dystrophyEnrichmentTGFBI0.81
976Diamond-blackfan anemia 4EnrichmentRPS170.81
977Deafness, autosomal recessive 74EnrichmentMSRB30.81
978Combined oxidative phosphorylation deficiency 16EnrichmentMRPL440.81
979Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB0.81
980Diamond-blackfan anemia 11EnrichmentRPL260.81
981Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A20.81
982D-2-hydroxyglutaric aciduria 2EnrichmentIDH20.81
983Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaEnrichmentIARS20.81
984Dominant hereditary optic atrophyEnrichmentOPA10.81
985Combined oxidative phosphorylation deficiency 25EnrichmentMARS20.81
986Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP20.81
987Hypocalcemia, autosomal dominant 2EnrichmentGNA110.81
988Combined oxidative phosphorylation deficiency 8EnrichmentAARS20.81
989Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndromeEnrichmentADA20.81
990Cortical dysplasia, complex, with other brain malformations 2EnrichmentKIF5C0.81
991Testicular anomalies with or without congenital heart diseaseEnrichmentGATA40.81
992Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT20.81
993Spastic ataxia 5EnrichmentAFG3L20.81
994Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA0.81
995Autosomal recessive cutis laxa type iiiEnrichmentALDH18A10.81
996Short stature, dauber-argente typeEnrichmentPAPPA20.81
997Combined oxidative phosphorylation deficiency 5EnrichmentMRPS220.81
998Combined oxidative phosphorylation deficiency 22EnrichmentATP5F1A0.81
999Spastic paraplegia 55, autosomal recessiveEnrichmentMTRFR0.81
1000Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalitiesEnrichmentITM2B0.81
1001Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB40.81
1002Trichothiodystrophy 8, nonphotosensitiveEnrichmentAARS10.81
1003Immunoglobulin light chain amyloidosisEnrichmentLYZ0.81
1004Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN0.81
1005Myopathy, lactic acidosis, and sideroblastic anemia 2EnrichmentYARS20.81
1006Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndromeEnrichmentSARS20.81
1007Developmental and epileptic encephalopathy 51EnrichmentMDH20.81
1008Combined oxidative phosphorylation deficiency 7EnrichmentMTRFR0.81
1009Atrial septal defect 9EnrichmentGATA60.81
1010Parkinson disease 22, autosomal dominantEnrichmentCHCHD20.81
1011Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G70.81
1012Combined oxidative phosphorylation deficiency 15EnrichmentMTFMT0.81
1013Spondyloepimetaphyseal dysplasiaEnrichmentRPL130.81
1014Hypomyelination with brainstem and spinal cord involvement and leg spasticityEnrichmentDARS10.81
1015Butyrylcholinesterase deficiencyEnrichmentBCHE0.81
1016Protoporphyria, erythropoietic, 2EnrichmentCLPX0.81
1017Combined oxidative phosphorylation deficiency 46EnrichmentMRPS230.81
1018Fumarate hydratase deficiencyEnrichmentFH0.81
1019Mixed oligodendroglioma-astrocytomaEnrichmentIDH20.81
1020Mitochondrial complex i deficiency, nuclear type 27EnrichmentMTFMT0.81
1021Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesEnrichmentNARS10.81
1022Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT30.81
1023Optic atrophy 11EnrichmentYME1L10.81
1024Cardioacrofacial dysplasia 1EnrichmentPRKACA0.81
1025Combined oxidative phosphorylation deficiency 39EnrichmentGFM20.81
1026Diamond-blackfan anemia 19EnrichmentRPL350.81
1027Charcot-marie-tooth disease, axonal, type 2uEnrichmentMARS10.81
1028Combined oxidative phosphorylation deficiency 38EnrichmentMRPS140.81
1029Intellectual developmental disorder, autosomal dominant 38EnrichmentEEF1A20.81
10308p23.1 microdeletion syndromeEnrichmentGATA40.81
1031Anaplastic oligoastrocytomaEnrichmentIDH20.81
1032Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A0.81
1033Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB10.81
1034Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A10.81
1035Spinal muscular atrophy, infantile, james typeEnrichmentGARS10.81
1036Chronic respiratory distress with surfactant metabolism deficiencyEnrichmentSFTPC0.81
1037Sudden cardiac failure, alcohol-inducedEnrichmentPPA20.81
1038Mitochondrial complex iv deficiency, nuclear type 20EnrichmentCOX5A0.81
1039Neuronopathy, distal hereditary motor, autosomal dominant 9EnrichmentWARS10.81
1040Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalitiesEnrichmentWARS10.81
1041Leukodystrophy, hypomyelinating, 15EnrichmentEPRS10.81
1042Mitochondrial complex v deficiency, nuclear type 4aEnrichmentATP5F1A0.81
1043Sick sinus syndrome 4EnrichmentGNB20.81
1044Leukoencephalopathy, hereditary diffuse, with spheroids 2EnrichmentAARS10.81
1045Ovarian dysgenesis 7EnrichmentMRPS220.81
1046Trichothiodystrophy 9, nonphotosensitiveEnrichmentMARS10.81
1047Amyloidosis, hereditary systemic 5EnrichmentLYZ0.81
1048Deafness, autosomal recessive 94EnrichmentNARS20.81
1049Neurodevelopmental disorder with seizures and brain atrophyEnrichmentEXOC70.81
1050Trichothiodystrophy 7, nonphotosensitiveEnrichmentTARS10.81
1051Combined oxidative phosphorylation deficiency 43EnrichmentTIMM220.81
1052Cardiomyopathy, dilated, 2dEnrichmentRPL3L0.81
1053Combined oxidative phosphorylation deficiency 45EnrichmentMRPL120.81
1054Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I10.81
1055Neurodevelopmental disorder with microcephaly, seizures, and brain atrophyEnrichmentEXOC80.81
1056Rajab interstitial lung disease with brain calcifications 2EnrichmentFARSA0.81
1057Combined oxidative phosphorylation deficiency 50EnrichmentMRPS250.81
1058Leukoencephalopathy, progressive, infantile-onset, with or without deafnessEnrichmentKARS10.81
1059Serum amyloid a amyloidosisEnrichmentSAA10.81
1060Amyloidosis, hereditary systemic 6EnrichmentB2M0.81
1061Neutropenia, severe congenital, 11, autosomal dominantEnrichmentSEC61A10.81
1062Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunizationEnrichmentMME0.81
1063Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomaliesEnrichmentABCA30.81
1064Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2EnrichmentATP5F1B0.81
1065Adenoid ameloblastomaEnrichmentCTNNB10.81
1066Epithelial basement membrane dystrophyEnrichmentTGFBI0.81
1067AmyloidosisEnrichmentTTR0.81
1068Aars2-related disorderEnrichmentAARS20.81
1069Optic atrophy 14EnrichmentMIEF10.81
1070Charcot-marie-tooth disease type 2dEnrichmentGARS10.81
1071Combined oxidative phosphorylation deficiency 59EnrichmentMRPL390.81
1072Lipodystrophy, familial partial, type 8EnrichmentADRA2A0.81
1073Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B0.81
1074Mitochondrial dna depletion syndrome, hepatocerebrorenal formEnrichmentTWNK0.81
1075Neurodevelopmental disorder with speech or visual impairment and brain hypomyelinationEnrichmentCCT30.81
1076Charcot-marie-tooth disease type 2tEnrichmentMME0.81
1077Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B20.81
1078Fibrillary astrocytomaEnrichmentIDH20.81
1079Perrault syndrome 7EnrichmentDAP30.81
1080Acute myocardial infarctionEnrichmentIDH20.81
1081Mme-related autosomal dominant charcot marie tooth disease type 2EnrichmentMME0.81
1082SirenomeliaEnrichmentCDX20.81
1083X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeEnrichmentRPL100.81
1084Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT30.81
1085Brain calcification, rajab typeEnrichmentFARSB0.81
1086GoutEnrichmentDARS20.81
1087Lateral sclerosisEnrichmentSPG70.81
1088Autosomal dominant spastic ataxiaEnrichmentMT-CO30.81
1089Combined oxidative phosphorylation deficiency 60EnrichmentMRPL490.81
1090Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A0.81
1091Pure red-cell aplasiaEnrichmentRPS260.81
1092Syndromic x-linked intellectual disability hedera typeEnrichmentATP6AP20.81
1093Cpe-related prader-willi-like syndromeEnrichmentCPE0.81
1094Non-classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR0.81
1095Partial atrioventricular septal defect with ventricular hypoplasiaEnrichmentGATA40.81
1096Pulmonary alveolar proteinosisEnrichmentMARS10.81
1097Diamond-blackfan anemia 22EnrichmentRPL170.81
1098Liver cirrhosisEnrichmentFARSB0.81
1099Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeEnrichmentTBCE0.81
1100Anorectal malformationEnrichmentCDX20.81
1101Hereditary amyloidosisEnrichmentTTR0.81
1102X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeEnrichmentRPL100.81
1103Polyarteritis nodosaEnrichmentADA20.81
1104Pash syndromeEnrichmentNCSTN0.81
1105Attrv30m amyloidosisEnrichmentTTR0.81
1106Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutationEnrichmentKIF5A0.81
1107Phakomatosis cesiomarmorataEnrichmentGNA110.81
1108Kaposiform hemangioendotheliomaEnrichmentGNA140.81
1109Maternally-inherited spastic paraplegiaEnrichmentMT-ATP60.81
1110Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT30.81
1111Retinal dystrophy with inner retinal dysfunction and ganglion cell anomaliesEnrichmentITM2B0.81
1112Microcystic stromal tumorEnrichmentCTNNB10.81
1113Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeEnrichmentDARS20.81
1114Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeEnrichmentQARS10.81
1115Classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR0.81
1116Autosomal dominant complex spastic paraplegia type 9bEnrichmentALDH18A10.81
1117Attrv122i amyloidosisEnrichmentTTR0.81
1118MedulloblastomaEnrichmentANK3, APC, CTNNB1, WRN0.79
1119Parkinson's diseaseEnrichmentATXN3, GBA1, MT-ND1, NR4A2, PRKN0.79
1120Hypercholesterolemia, familial, 1EnrichmentAPOA2, APOB, PCSK90.78
1121Esophageal cancerEnrichmentTGFBR2, TP530.76
1122Thrombophilia due to thrombin defectEnrichmentF2, FGA0.76
1123Squamous cell carcinoma, head and neckEnrichmentPTEN, TP530.76
1124Essential thrombocythemiaEnrichmentCALR, TP530.76
1125Hemolytic anemiaEnrichmentSPTA1, SPTB0.76
1126Childhood-onset nemaline myopathyEnrichmentKBTBD13, KLHL410.76
1127Hypophosphatemic ricketsEnrichmentDMP1, FGF230.76
1128B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP530.76
1129Capillary malformations, congenitalEnrichmentGNA11, GNAQ0.76
1130Enchondromatosis, multiple, ollier typeEnrichmentHIF1A, IDH20.76
1131Exudative vitreoretinopathy 1EnrichmentCTNNB1, PRSS230.76
1132Kearns-sayre syndromeEnrichmentKIF5B, MT-ATP80.76
1133Congenital heart defects, multiple types, 4EnrichmentGATA4, GATA60.76
1134HemangiomaEnrichmentPTEN, RPL50.76
11352q23.1 microduplication syndromeEnrichmentKIF5C, MBD50.76
1136Multiple sclerosisEnrichmentCD109, LAMB1, NR1H30.71
1137Spastic ataxiaEnrichmentAFG3L2, ARSA, DARS2, DNMT1, GLB1, HARS1, PEX10, SPG7, SPTAN1, TUBB3, WFS10.71
1138Endometrial cancerEnrichmentBARD1, BLM, BRCA1, PTEN0.71
1139Peters-plus syndromeEnrichmentB3GLCT, BMP4, PAX60.71
1140Mitochondrial encephalomyopathyEnrichmentFARS2, FBXL4, MT-CYB0.71
1141Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentMT-CO1, MT-ND1, MT-ND40.71
1142Wilms tumor 1EnrichmentCTR9, GPC3, IGF2, TRIM280.71
1143Breast cancerEnrichmentABRAXAS1, APC, BARD1, BLM, BRCA1, CDC73, DCTN5, ESR1, PALB2, PTEN, TP530.70
1144Inherited cancer-predisposing syndromeEnrichmentABRAXAS1, APC, AXIN2, BAP1, BARD1, BLM, BRCA1, CDC73, CDKN2A, CYLD, DCTN5, MEN1, MITF, PALB2, PTEN, SMAD4, TP53, VHL0.70
1145Acromicric dysplasiaEnrichmentFBN10.68
1146Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1EnrichmentPARK70.68
1147Cri-du-chat syndromeEnrichmentSEMA5A0.68
1148Thyroid hormone resistance, selective pituitaryEnrichmentTHRB0.68
1149Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentUMOD0.68
1150Spinocerebellar ataxia 7EnrichmentATXN70.68
1151Amelogenesis imperfecta, type ibEnrichmentENAM0.68
1152Melanoma-astrocytoma syndromeEnrichmentCDKN2A0.68
1153Burkitt lymphomaEnrichmentMYC0.68
1154Periodontitis, aggressive, 1EnrichmentCTSC0.68
1155Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominantEnrichmentDYNC1H10.68
1156Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A0.68
1157Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA30.68
1158Amyotrophy, hereditary neuralgicEnrichmentNAPB0.68
1159Wagner vitreoretinopathyEnrichmentVCAN0.68
1160Hyperlipoproteinemia, type vEnrichmentAPOA50.68
1161Cylindromatosis, familialEnrichmentCYLD0.68
1162Hypercalciuria, absorptive, 2EnrichmentDCAF60.68
1163Myhre syndromeEnrichmentSMAD40.68
1164Adrenocortical carcinoma, hereditaryEnrichmentTP530.68
1165Camurati-engelmann disease 1EnrichmentTGFB10.68
1166Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN10.68
1167Haim-munk syndromeEnrichmentCTSC0.68
1168Hyperlipoproteinemia, type iEnrichmentGPIHBP10.68
1169Woodhouse-sakati syndromeEnrichmentDCAF170.68
1170Amelogenesis imperfecta, type igEnrichmentFAM20A0.68
1171Immunodeficiency-centromeric instability-facial anomalies syndrome 1EnrichmentDNMT3B0.68
1172Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN10.68
1173Pituitary adenoma 4, acth-secretingEnrichmentUSP80.68
1174Ectopia lentis et pupillaeEnrichmentADAMTSL40.68
1175Papillon-lefevre syndromeEnrichmentCTSC0.68
1176Chylomicron retention diseaseEnrichmentSAR1B0.68
1177Galactosemia iiEnrichmentNR3C10.68
1178Chromosomal instability with tissue-specific radiosensitivityEnrichmentGMPPA0.68
1179Stiff skin syndromeEnrichmentFBN10.68
1180Thyroid hormone resistance, generalized, autosomal dominantEnrichmentTHRB0.68
1181Thumb deformityEnrichmentCREBBP0.68
1182Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN10.68
1183Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR0.68
1184Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophyEnrichmentRAB33A0.68
1185Muscular dystrophy-dystroglycanopathy , type a, 3EnrichmentPOMGNT10.68
1186Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR0.68
1187Spondyloepiphyseal dysplasia tarda, x-linkedEnrichmentTRAPPC20.68
1188Spermatogenic failure, y-linked, 2EnrichmentCFTR0.68
1189Giant axonal neuropathy 1, autosomal recessiveEnrichmentGAN0.68
1190Striatonigral degeneration, infantileEnrichmentNUP620.68
1191Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC20.68
1192Myasthenic syndrome, congenital, 5EnrichmentLAMB20.68
1193Trichoepithelioma, multiple familial, 1EnrichmentCYLD0.68
1194Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxiaEnrichmentRAB33A0.68
1195Carotid intimal medial thickness 1EnrichmentPPARG0.68
1196Combined oxidative phosphorylation deficiency 6EnrichmentRAB33A0.68
1197Thyroid hormone resistance, generalized, autosomal recessiveEnrichmentTHRB0.68
1198Alzheimer disease 3EnrichmentAPOE0.68
1199Xeroderma pigmentosum, complementation group cEnrichmentXPC0.68
1200Craniosynostosis with ectopia lentisEnrichmentADAMTSL40.68
1201Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC30.68
1202Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT10.68
1203Cervical cancerEnrichmentTP530.68
1204Panbronchiolitis, diffuseEnrichmentMUC5B0.68
1205Parkinson disease 12EnrichmentPRKN0.68
1206Cornelia de lange syndrome 2EnrichmentSMC1A0.68
1207Immunodeficiency 33EnrichmentIKBKG0.68
1208Vexas syndromeEnrichmentUBA10.68
1209Paroxysmal nocturnal hemoglobinuria 1EnrichmentPIGA0.68
1210Hyperaldosteronism, familial, type iiEnrichmentSATB10.68
1211Congenital disorder of glycosylation, type 1ddEnrichmentDHRSX0.68
1212Multiple mitochondrial dysfunctions syndrome 1EnrichmentNFU10.68
1213Severe cutaneous adverse reactionEnrichmentHLA-A0.68
1214Thrombotic thrombocytopenic purpura, hereditaryEnrichmentADAMTS130.68
1215Congenital disorder of glycosylation, type iibEnrichmentMOGS0.68
1216Xeroderma pigmentosum, complementation group eEnrichmentDDB20.68
1217Intellectual developmental disorder, x-linked, syndromic, cabezas typeEnrichmentCUL4B0.68
1218Epiphyseal dysplasia, multiple, 5EnrichmentMATN30.68
1219Salt and pepper developmental regression syndromeEnrichmentST3GAL50.68
1220Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP0.68
1221Cataract 11, multiple typesEnrichmentGBF10.68
1222Neutral lipid storage disease with myopathyEnrichmentPNPLA20.68
1223Anterior segment dysgenesis 1EnrichmentGBF10.68
1224Nephronophthisis-like nephropathy 1EnrichmentRANGAP10.68
1225Premature ovarian failure 3EnrichmentFOXL20.68
1226Congenital disorder of glycosylation, type ijEnrichmentDPAGT10.68
1227Congenital disorder of glycosylation, type ifEnrichmentMPDU10.68
1228Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA0.68
1229Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD40.68
1230Welander distal myopathyEnrichmentSQSTM10.68
1231Microvascular complications of diabetes 5EnrichmentTGFBR20.68
1232Corneal dystrophy, congenital stromalEnrichmentSPARCL10.68
1233Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM10.68
1234Muscular dystrophy-dystroglycanopathy , type a, 14EnrichmentGMPPB0.68
1235Muscular dystrophy-dystroglycanopathy , type b, 14EnrichmentGMPPB0.68
1236Lissencephaly 1EnrichmentLAMB10.68
1237Melanoma, cutaneous malignant 2EnrichmentCDKN2A0.68
1238Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentFKRP0.68
1239Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP10.68
1240Lipoyltransferase 1 deficiencyEnrichmentLIPT10.68
1241Myasthenic syndrome, congenital, 13EnrichmentDPAGT10.68
1242Chudley-mccullough syndromeEnrichmentSPTB0.68
1243Bleeding disorder, platelet-type, 19EnrichmentGNE0.68
1244Myasthenic syndrome, congenital, 15EnrichmentALG140.68
1245Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT0.68
1246Hyperphosphatasia with impaired intellectual development syndrome 6EnrichmentPIGY0.68
1247Lig4 syndromeEnrichmentXRCC40.68
1248Beaulieu-boycott-innes syndromeEnrichmentFBN10.68
1249GalactosialidosisEnrichmentCTSA0.68
1250Muscular dystrophy-dystroglycanopathy , type b, 3EnrichmentPOMGNT10.68
1251Muscular dystrophy-dystroglycanopathy , type c, 2EnrichmentPOMT20.68
1252Muscular dystrophy-dystroglycanopathy , type a, 2EnrichmentPOMT20.68
1253Maturity-onset diabetes of the young, type 10EnrichmentINS0.68
1254Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC30.68
1255Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A0.68
1256Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire typeEnrichmentMATN30.68
1257Rafiq syndromeEnrichmentMAN1B10.68
1258Ectopia lentis 2, isolated, autosomal recessiveEnrichmentADAMTSL40.68
1259Pierson syndromeEnrichmentLAMB20.68
1260Yao syndromeEnrichmentNOD20.68
1261Lymphoma, hodgkin, classicEnrichmentTP530.68
1262Immunodeficiency, common variable, 10EnrichmentNFKB20.68
1263Congenital disorder of glycosylation, type ixEnrichmentSTT3B0.68
1264Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesEnrichmentDYNC1I20.68
1265Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP30.68
1266Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN40.68
1267Myasthenic syndrome, congenital, 12EnrichmentGFPT10.68
1268Glycosylphosphatidylinositol biosynthesis defect 11EnrichmentPIGW0.68
1269Congenital disorder of glycosylation, type iihEnrichmentCOG80.68
1270Deafness, autosomal dominant 64EnrichmentB3GNT40.68
1271Long qt syndrome 14EnrichmentCALM10.68
1272Hypothyroidism, congenital, nongoitrous, 6EnrichmentTHRA0.68
1273Loeys-dietz syndrome 3EnrichmentSMAD30.68
1274Peroxisome biogenesis disorder 11aEnrichmentPEX130.68
1275Peroxisome biogenesis disorder 13aEnrichmentPEX140.68
1276Alacrima, achalasia, and impaired intellectual development syndromeEnrichmentGMPPA0.68
1277Cortical dysplasia, complex, with other brain malformations 13EnrichmentDYNC1H10.68
1278Carpenter syndrome 1EnrichmentRAB230.68
1279Peroxisome biogenesis disorder 2bEnrichmentPEX50.68
1280Hermansky-pudlak syndrome 3EnrichmentCP0.68
1281Developmental and epileptic encephalopathy 15EnrichmentST3GAL30.68
1282Peroxisome biogenesis disorder 11bEnrichmentPEX130.68
1283Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB100.68
1284Neurodevelopmental disorder with seizures and speech and walking impairmentEnrichmentDHPS0.68
1285Hypobetalipoproteinemia, familial, 1EnrichmentAPOB0.68
1286Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM10.68
1287Lung disease, immunodeficiency, and chromosome breakage syndromeEnrichmentNSMCE30.68
1288Immunodeficiency 23EnrichmentPGM30.68
1289Osteogenesis imperfecta, type xxiEnrichmentKDELR20.68
1290Xeroderma pigmentosum, complementation group aEnrichmentXPC0.68
1291Gabriele-de vries syndromeEnrichmentYY10.68
1292HyperproinsulinemiaEnrichmentINS0.68
1293Multiple mitochondrial dysfunctions syndrome 7EnrichmentGCSH0.68
1294Periventricular nodular heterotopia 8EnrichmentARF10.68
1295Alpha-thalassemia/impaired intellectual development syndrome, x-linkedEnrichmentALPL0.68
1296Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalitiesEnrichmentLIPT20.68
1297Snijders blok-campeau syndromeEnrichmentCHD30.68
1298Immunodeficiency 121 with autoinflammationEnrichmentPSMB100.68
1299Glycosylphosphatidylinositol biosynthesis defect 15EnrichmentGPAA10.68
1300Fanconi anemia, complementation group sEnrichmentBRCA10.68
1301Developmental delay with short stature, dysmorphic facial features, and sparse hair 2EnrichmentDPH20.68
1302Birk-aharoni syndromeEnrichmentPSMC10.68
1303Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP10.68
1304Encephalopathy, progressive, early-onset, with episodic rhabdomyolysisEnrichmentTRAPPC2L0.68
130546,xy sex reversal 1EnrichmentAR0.68
1306Werner syndromeEnrichmentWRN0.68
1307Androgen insensitivity syndromeEnrichmentAR0.68
1308Neurodevelopmental disorder with cerebellar atrophy and with or without seizuresEnrichmentAGTPBP10.68
1309Deafness, autosomal recessive 7EnrichmentOTOA0.68
1310Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA0.68
1311Glycine encephalopathy 2EnrichmentNICN10.68
1312Immunodeficiency 66EnrichmentMRTFA0.68
1313Keratoconus 9EnrichmentTUBA3D0.68
1314Menke-hennekam syndrome 2EnrichmentEP3000.68
1315Usher syndrome, type ivEnrichmentARSG0.68
1316Spinal muscular atrophy, x-linked 2EnrichmentUBA10.68
1317Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB10.68
1318Pettigrew syndromeEnrichmentCUL4B0.68
1319Mitochondrial complex i deficiency, nuclear type 10EnrichmentERCC80.68
1320Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD0.68
1321Hyperlipoproteinemia, type iiiEnrichmentAPOE0.68
1322Bohring-opitz syndromeEnrichmentASXL10.68
1323Brooke-spiegler syndromeEnrichmentCYLD0.68
1324Ichthyosis, x-linkedEnrichmentSTS0.68
1325Bleeding disorder, east texas typeEnrichmentF50.68
1326Nephrotic syndrome, type 5, with or without ocular abnormalitiesEnrichmentLAMB20.68
1327Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A0.68
1328Pancreatic cancer 4EnrichmentBRCA10.68
1329Thyroid hormone resistance syndromeEnrichmentTHRB0.68
1330Congenital disorder of glycosylation, type igEnrichmentALG120.68
1331Autosomal recessive hypophosphatemic ricketsEnrichmentDMP10.68
1332Melanoma, cutaneous malignant 8EnrichmentMITF0.68
1333Smith-mccort dysplasiaEnrichmentRAB33B0.68
1334Hypospadias 1, x-linkedEnrichmentAR0.68
1335Salt and pepper syndromeEnrichmentST3GAL50.68
1336Muscular dystrophy-dystroglycanopathy , type c, 14EnrichmentGMPPB0.68
1337Rela fusion-positive ependymomaEnrichmentRELA0.68
1338Lissencephaly 3EnrichmentTUBA1A0.68
1339Facioscapulohumeral muscular dystrophy 4, digenicEnrichmentDNMT3B0.68
1340Aortic dissectionEnrichmentFBN10.68
1341Muscular dystrophy-dystroglycanopathy , type b, 2EnrichmentPOMT20.68
1342Congenital disorder of glycosylation, type iqEnrichmentSRD5A30.68
1343Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN10.68
1344Spinal muscular atrophy with lower extremity predominantEnrichmentDYNC1H10.68
1345Hereditary spastic paraplegia 79aEnrichmentUCHL10.68
1346Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP0.68
1347Hereditary combined deficiency of vitamin k-dependent clotting factorsEnrichmentGGCX0.68
1348Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP10.68
1349Spondyloepiphyseal dysplasia tardaEnrichmentTRAPPC20.68
1350Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT10.68
1351Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A0.68
1352Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficultiesEnrichmentDPH50.68
1353Syndromic x-linked intellectual disability 17EnrichmentGMPPA0.68
1354Erythrocytosis, familial, 3EnrichmentEPAS10.68
1355Developmental and epileptic encephalopathy 96EnrichmentNSF0.68
1356Short stature, microcephaly, and endocrine dysfunctionEnrichmentXRCC40.68
1357Papillary renal cell carcinomaEnrichmentMITF0.68
1358Camurati-engelmann diseaseEnrichmentTGFB10.68
1359Congenital fibrosarcomaEnrichmentTP530.68
1360Desanto-shinawi syndromeEnrichmentWAC0.68
1361Glycosylphosphatidylinositol biosynthesis defect 16EnrichmentPIGC0.68
1362GlomerulonephritisEnrichmentAPOL10.68
1363Li-fraumeni syndrome 1EnrichmentTP530.68
1364Chromosome 19q13.11 deletion syndrome, distalEnrichmentUBA20.68
1365Thrombotic thrombocytopenic purpuraEnrichmentADAMTS130.68
1366SarcomaEnrichmentTP530.68
1367Neurodegeneration, childhood-onset, with cerebellar atrophyEnrichmentAGTPBP10.68
1368Medullary thyroid carcinomaEnrichmentMEN10.68
1369Witteveen-kolk syndromeEnrichmentSIN3A0.68
1370Ocular melanomaEnrichmentBAP10.68
1371Wolfram syndromeEnrichmentWFS10.68
1372Diabetes mellitus, permanent neonatal, 4EnrichmentINS0.68
1373Pericardial effusionEnrichmentNLRP30.68
1374Congenital hemolytic anemiaEnrichmentSPTA10.68
1375Myopathy, epilepsy, and progressive cerebral atrophyEnrichmentALG140.68
1376Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB30.68
1377Charcot-marie-tooth disease, axonal, type 2oEnrichmentDYNC1H10.68
1378Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC30.68
1379Spastic paraplegia 79a, autosomal dominant, with ataxiaEnrichmentUCHL10.68
1380Neuronopathy, distal hereditary motor, autosomal recessive 5EnrichmentVWA10.68
1381Microcephaly-capillary malformation syndromeEnrichmentSTAMBP0.68
1382HypophosphatasiaEnrichmentALPL0.68
1383Developmental and epileptic encephalopathy 78EnrichmentYY10.68
1384Smith-mccort dysplasia 2EnrichmentRAB33B0.68
1385Retinitis pigmentosa 76EnrichmentPOMGNT10.68
1386HypobetalipoproteinemiaEnrichmentAPOB0.68
1387Periampullary adenomaEnrichmentAPC0.68
1388Familial lipoprotein lipase deficiencyEnrichmentGPIHBP10.68
1389Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC0.68
1390Tatton-brown-rahman syndromeEnrichmentDNMT3A0.68
1391Cervix carcinomaEnrichmentTP530.68
1392Hodgkin's lymphomaEnrichmentTP530.68
1393B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA30.68
1394Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentSTT3A0.68
1395Paget's disease of boneEnrichmentSQSTM10.68
1396Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB0.68
1397Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD70.68
1398Hao-fountain syndromeEnrichmentUSP70.68
1399Chromosome 2p16.1-p15 deletion syndromeEnrichmentUSP340.68
1400Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA30.68
1401Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG0.68
1402Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA0.68
1403Inflammatory breast carcinomaEnrichmentBRCA10.68
1404EsotropiaEnrichmentTFAP2A0.68
140517q24.2 microdeletion syndromeEnrichmentPSMD120.68
1406Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesEnrichmentTRAPPC40.68
1407Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA10.68
1408Acute myeloid leukemia without maturationEnrichmentNPM10.68
1409Torsion dystonia 4EnrichmentTUBB4A0.68
1410Giant axonal neuropathy 1EnrichmentGAN0.68
1411Alpha thalassemia-x-linked intellectual disability syndromeEnrichmentALPL0.68
1412Charcot-marie-tooth disease x-linked recessive 4EnrichmentRAB33A0.68
1413Xeroderma pigmentosum group cEnrichmentXPC0.68
1414Polycystic kidney disease 3EnrichmentGANAB0.68
1415Spastic paraplegia 89, autosomal recessiveEnrichmentAMFR0.68
1416Kury-isidor syndromeEnrichmentBAP10.68
1417Exercise-induced malignant hyperthermiaEnrichmentASPH0.68
1418Congenital muscular dystrophy-dystroglycanopathy type a3EnrichmentPOMGNT10.68
1419Peritoneum cancerEnrichmentBRCA10.68
1420Spondyloepiphyseal dysplasia, kondo-fu typeEnrichmentMBTPS10.68
1421Childhood-onset epilepsy syndromeEnrichmentAMDHD20.68
1422Cockayne syndrome type 3EnrichmentERCC80.68
1423Lymphomatoid papulosisEnrichmentNPM10.68
1424Amyloidosis, hereditary systemic 3EnrichmentAPOA10.68
1425Distal hereditary motor neuropathy type 7EnrichmentDCTN10.68
1426Bilateral breast cancerEnrichmentBRCA10.68
1427Basal ganglia diseaseEnrichmentIFIH10.68
1428Wagner diseaseEnrichmentVCAN0.68
1429Crohn's diseaseEnrichmentNOD20.68
1430Microcephaly and chorioretinopathy 3EnrichmentTP53BP10.68
1431Familial partial lipodystrophyEnrichmentPPARG0.68
1432Autosomal dominant nonsyndromic deafnessEnrichmentGATA30.68
14332p21 microdeletion syndrome without cystinuriaEnrichmentCAMKMT0.68
1434Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2140.68
1435Vacterl with hydrocephalusEnrichmentPTEN0.68
1436Posterior hypospadiasEnrichmentAR0.68
1437Acute leukemia of ambiguous lineageEnrichmentVHL0.68
1438Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionEnrichmentNR4A20.68
1439Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L0.68
1440Epidermolysis bullosa dystrophicaEnrichmentCOL7A10.68
1441GlycoproteinosisEnrichmentNEU10.68
1442Congenital muscular dystrophy-dystroglycanopathy type a14EnrichmentGMPPB0.68
1443Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN10.68
1444Malignant granulosa cell tumor of the ovaryEnrichmentFOXL20.68
1445Juvenile polyposis of infancyEnrichmentPTEN0.68
1446Cog8-congenital disorder of glycosylationEnrichmentCOG80.68
1447Xeroderma pigmentosum group eEnrichmentDDB20.68
1448Null pituitary adenomaEnrichmentMEN10.68
1449Acute necrotizing encephalopathy of childhoodEnrichmentRANBP20.68
1450Familial patent arterial ductEnrichmentTFAP2B0.68
1451Silent pituitary adenomaEnrichmentMEN10.68
1452PseudohypoaldosteronismEnrichmentNR3C20.68
1453Pleomorphic rhabdomyosarcomaEnrichmentTP530.68
1454Combined deficiency of sialidase and beta galactosidaseEnrichmentCTSA0.68
1455Continuous spikes and waves during sleepEnrichmentTUBA1A0.68
1456Dpagt1-congenital disorder of glycosylationEnrichmentDPAGT10.68
1457Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM10.68
1458Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA0.68
1459Submucosal cleft palateEnrichmentUBB0.68
1460Desanto-shinawi syndrome due to wac point mutationEnrichmentWAC0.68
1461Cleft hard palateEnrichmentUBB0.68
1462GigantismEnrichmentMEN10.68
1463Neuroendocrine tumor of pancreasEnrichmentPALB20.68
1464Bladder cancerEnrichmentBRCA1, CDKN1A, CDKN2A, PTEN, TP530.68
1465Prostate cancerEnrichmentAR, BRCA1, PALB2, PTEN, TP530.68
1466Spastic paraplegia 4, autosomal dominantEnrichmentFGG, TRAPPC20.66
1467Immunodeficiency 47EnrichmentALG2, COG70.66
1468Glycine encephalopathy 1EnrichmentGCSH, NICN10.66
1469Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentANK2, CALM10.66
1470Homozygous familial hypercholesterolemiaEnrichmentAPOB, PCSK90.66
1471Childhood-onset schizophreniaEnrichmentB3GNT6, GALNT40.66
1472Immunodeficiency due to a classical component pathway complement deficiencyEnrichmentC4A, C4B0.66
1473Tooth agenesisEnrichmentAXIN2, RANBP2, SUMO1, TGFA0.66
1474Renal cell carcinoma, nonpapillaryEnrichmentBAP1, RNF139, VHL0.65
1475Corpus callosum, agenesis ofEnrichmentCDH2, CREBBP, TUBA1A0.65
1476Atypical hemolytic-uremic syndromeEnrichmentADAMTS13, C1GALT1C1, C30.65
1477Lynch syndromeEnrichmentCFTR, GNE, TGFBR20.65
1478Autosomal dominant polycystic kidney diseaseEnrichmentALG5, ALG9, GANAB0.65
1479Isolated corpus callosum agenesisEnrichmentCDH2, CREBBP, TUBA1A0.65
1480Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, CREBBP, TUBA1A0.65
1481Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGLUD1, HADH0.62
1482Hemihyperplasia, isolatedEnrichmentIGF2, RHOA0.62
1483Deafness, nonsyndromic sensorineural, mitochondrialEnrichmentMT-CO1, MT-ND10.62
1484Anterior segment dysgenesis 5EnrichmentBMP4, PAX60.62
1485Inflammatory myofibroblastic tumorEnrichmentCARS1, RANBP20.62
1486Autosomal recessive intellectual developmental disorderEnrichmentEEF1D, TRAPPC90.62
1487Nonsyndromic genetic hyperinsulinismEnrichmentGLUD1, HADH0.62
1488Myelodysplastic syndromeEnrichmentASXL1, GNB1, TP530.62
1489Isolated complex iii deficiencyEnrichmentMT-CYB, UQCRC2, UQCRQ0.62
1490Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, MYC, NUP214, ZBTB160.61
1491Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX4I1, MT-CO1, MT-CO2, MT-CO3, NDUFV10.60
1492Myocardial infarctionEnrichmentACE, CCT7, ESR1, F7, PSMA60.60
1493RhabdomyosarcomaEnrichmentBRCA1, PTEN, TP530.59
1494Inflammatory bowel disease 1EnrichmentIL6, NOD20.58
1495Coronary heart disease 5EnrichmentAPOB, IKBKG0.58
1496Colonic benign neoplasmEnrichmentAPC, PALB20.58
1497Familial thoracic aortic aneurysm and dissectionEnrichmentFBN1, SMAD30.58
1498Behavioral variant of frontotemporal dementiaEnrichmentSQSTM1, VCP0.58
1499Alzheimer disease, familial, 1EnrichmentAPOE, APP, MT-ND1, VCP0.57
1500Cleft palate, isolatedEnrichmentAMER1, GNB1, PIGW, SATB20.57
1501Autoinflammatory diseaseEnrichmentNLRP3, NOD2, PSMB8, RAB27A0.57
1502Muscular dystrophyEnrichmentFKRP, GMPPB, PMM2, POMT20.57
1503Melanoma, cutaneous malignant 1EnrichmentBAP1, CDKN2A, MITF0.54
1504Charcot-marie-tooth disease, demyelinating, type 1aEnrichmentMT-ATP60.54
1505Keratitis, hereditaryEnrichmentPAX60.54
1506Leiomyoma, uterineEnrichmentFH0.54
1507Optic atrophy 1EnrichmentOPA10.54
1508Foveal hypoplasia 1EnrichmentPAX60.54
1509Behr syndromeEnrichmentOPA10.54
1510Alpha-methylacetoacetic aciduriaEnrichmentACAT10.54
1511Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentABCA30.54
1512Plasminogen deficiency, type iEnrichmentPLG0.54
1513Cutis marmorata telangiectatica congenitaEnrichmentGNA110.54
1514Deafness, sensorineural, autosomal-mitochondrial typeEnrichmentMT-ND10.54
1515Hydrocephalus, normal-pressure, 1EnrichmentPMPCA0.54
1516Wilms tumor 2EnrichmentMRPL230.54
1517Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD0.54
1518Hypogonadotropic hypogonadism 24 with or without anosmiaEnrichmentFSHB0.54
1519Gaucher disease, type iiicEnrichmentGBA10.54
1520Toe syndactyly, telecanthus, and anogenital and renal malformationsEnrichmentSTAR0.54
1521Grange syndromeEnrichmentDAP30.54
1522Alzheimer disease 9EnrichmentSORL10.54
1523Leukodystrophy, hypomyelinating, 4EnrichmentHSPD10.54
1524Gaucher disease, perinatal lethalEnrichmentGBA10.54
1525Tubulointerstitial kidney disease, autosomal dominant 4EnrichmentREN0.54
1526Diamond-blackfan anemia 6EnrichmentRPL50.54
1527Diamond-blackfan anemia 9EnrichmentRPS100.54
1528Griscelli syndrome, type 3EnrichmentMYO5A0.54
1529Porphyria, acute intermittentEnrichmentACO20.54
1530Thyroid carcinoma, hurthle cellEnrichmentNDUFA130.54
1531Hyperinsulinemic hypoglycemia, familial, 4EnrichmentHADH0.54
1532Spastic ataxia 3, autosomal recessiveEnrichmentMARS20.54
1533Combined oxidative phosphorylation deficiency 14EnrichmentFARS20.54
1534Protoporphyria, erythropoietic, 1EnrichmentFECH0.54
1535Leukoencephalopathy, cystic, without megalencephalyEnrichmentNDUFA20.54
1536Diamond-blackfan anemia 5EnrichmentRPL35A0.54
1537Optic nerve hypoplasia, bilateralEnrichmentPAX60.54
1538Atrial fibrillation, familial, 6EnrichmentNPPA0.54
1539Mononeuropathy of the median nerve, mildEnrichmentTTR0.54
1540Kallikrein, decreased urinary activity ofEnrichmentKLK10.54
1541Trichohepatoenteric syndrome 2EnrichmentSKIC20.54
1542Gaucher disease, type iiiEnrichmentGBA10.54
1543Usher syndrome, type iiibEnrichmentHARS10.54
1544Hypophosphatemic rickets with hypercalciuria, hereditaryEnrichmentSLC34A10.54
1545Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD0.54
1546Developmental and epileptic encephalopathy 33EnrichmentEEF1A20.54
1547Hartnup disorderEnrichmentCLTRN0.54
1548Silver-russell syndrome 3EnrichmentIGF20.54
1549Mitochondrial dna depletion syndrome 14EnrichmentOPA10.54
1550Hydrops, lactic acidosis, and sideroblastic anemiaEnrichmentLARS20.54
1551Factor xii deficiencyEnrichmentSLC34A10.54
1552Angioma, tuftedEnrichmentGNA140.54
1553Intellectual developmental disorder, autosomal dominant 43EnrichmentQARS10.54
1554Night blindness, congenital stationary, type 1hEnrichmentGNB30.54
1555Optic atrophy 8EnrichmentOPA10.54
1556Schwartz-jampel syndrome, type 1EnrichmentHSPG20.54
1557Pyruvate dehydrogenase e1-beta deficiencyEnrichmentPDHB0.54
1558Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentFFAR40.54
1559Glycogen storage disease iiiEnrichmentAFG3L20.54
1560Charcot-marie-tooth disease, axonal, type 2wEnrichmentHARS10.54
1561Diamond-blackfan anemia 12EnrichmentRPL150.54
1562Leukoencephalopathy, progressive, with ovarian failureEnrichmentAARS20.54
1563Intellectual developmental disorder, autosomal recessive 67EnrichmentEIF3F0.54
1564Amed syndrome, digenicEnrichmentALDH20.54
1565Spastic paraplegia 77, autosomal recessiveEnrichmentFARS20.54
1566Optic atrophy 12EnrichmentAFG3L20.54
1567Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumEnrichmentTBCD0.54
1568Frontotemporal dementia and/or amyotrophic lateral sclerosis 2EnrichmentSPG70.54
1569Combined oxidative phosphorylation deficiency 20EnrichmentVARS20.54
1570Spastic paraplegia 5a, autosomal recessiveEnrichmentALDH18A10.54
1571Waardenburg syndrome, type 2fEnrichmentMTFMT0.54
1572Deafness, congenital, and adult-onset progressive leukoencephalopathyEnrichmentKARS10.54
1573Combined oxidative phosphorylation deficiency 36EnrichmentMRPS20.54
1574Neutropenia, severe congenital, 10, autosomal recessiveEnrichmentSRP680.54
1575Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B40.54
1576Spastic paraplegia 70, autosomal recessiveEnrichmentMARS10.54
1577Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B0.54
1578Combined oxidative phosphorylation deficiency 47EnrichmentMRPS280.54
1579Kowarski syndromeEnrichmentGH10.54
1580Perrault syndrome 6EnrichmentERAL10.54
1581Deafness, autosomal recessive 89EnrichmentKARS10.54
1582Perrault syndrome 3EnrichmentCLPP0.54
15833-hydroxy-3-methylglutaryl-coa synthase-2 deficiencyEnrichmentHMGCS20.54
1584Leukodystrophy, hypomyelinating, 17EnrichmentAIMP20.54
1585Spastic ataxia 3EnrichmentMARS20.54
1586Combined oxidative phosphorylation deficiency 9EnrichmentMRPL30.54
1587Childhood hepatocellular carcinomaEnrichmentCTNNB10.54
1588Bladder exstrophyEnrichmentISL10.54
1589Nephrolithiasis/osteoporosis, hypophosphatemic, 1EnrichmentSLC34A10.54
1590Autosomal dominant hypocalcemiaEnrichmentGNA110.54
1591Charcot-marie-tooth disease type 1aEnrichmentMT-ATP60.54
1592Seborrhea-like dermatitis with psoriasiform elementsEnrichmentTBCD0.54
1593Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentKIF5A0.54
1594OligodendrogliomaEnrichmentIDH20.54
1595Depressive disorderEnrichmentTWNK0.54
1596Fibrolamellar carcinomaEnrichmentPRKACA0.54
1597Acute porphyriaEnrichmentACO20.54
1598Hereditary angioedemaEnrichmentPLG0.54
1599Perrault syndrome 4EnrichmentLARS20.54
1600BradyopsiaEnrichmentRGS90.54
1601Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB50.54
1602Spastic paraplegia 46, autosomal recessiveEnrichmentEEF1A20.54
1603Diamond-blackfan anemia 16EnrichmentRPL270.54
1604Charcot-marie-tooth disease, axonal, type 2tEnrichmentMME0.54
1605Diamond-blackfan anemia 17EnrichmentRPS270.54
1606Autosomal recessive sideroblastic anemiaEnrichmentHSPA90.54
1607Anaplastic oligodendrogliomaEnrichmentIDH20.54
1608Spinocerebellar ataxia 45EnrichmentFH0.54
1609Mitochondrial dna depletion syndrome 15EnrichmentTFAM0.54
1610Nuclear type mitochondrial complex i deficiencyEnrichmentNDUFV10.54
1611Familial isolated congenital aspleniaEnrichmentRPSA0.54
1612Mitochondrial complex i deficiency, nuclear type 13EnrichmentNDUFA20.54
1613Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB10.54
1614Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaEnrichmentEXOC20.54
1615Autosomal recessive infantile hypercalcemiaEnrichmentSLC34A10.54
1616Demyelinating polyneuropathyEnrichmentKIF5A0.54
1617Progressive retinal dystrophy due to retinol transport defectEnrichmentFFAR40.54
1618Short stature due to growth hormone qualitative anomalyEnrichmentGH10.54
1619Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF10.54
1620Normal pressure hydrocephalusEnrichmentPMPCA0.54
1621D-2-hydroxyglutaric aciduriaEnrichmentIDH20.54
1622Autosomal dominant charcot-marie-tooth disease type 2wEnrichmentHARS10.54
1623Isolated atrial standstillEnrichmentNPPA0.54
1624TeratomaEnrichmentCTNNB10.54
1625Dominant hypophosphatemia with nephrolithiasis or osteoporosisEnrichmentSLC34A10.54
1626Skeletal muscle diseaseEnrichmentKIF5B0.54
1627Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF20.54
1628Autosomal erythropoietic protoporphyriaEnrichmentFECH0.54
1629Erythropoietic protoporphyria, autosomal recessiveEnrichmentFECH0.54
1630Cerebral visual impairmentEnrichmentGNB10.54
1631Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF20.54
1632Differentiated thyroid carcinomaEnrichmentEIF1AX, NDUFA13, PPARG, TFG, TPR, TRIM270.53
1633Contractural arachnodactyly, congenitalEnrichmentFBN10.53
1634AchondroplasiaEnrichmentFBN10.53
1635Mccune-albright syndromeEnrichmentFBN10.53
1636Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB10.53
1637Type 1 diabetes mellitus 2EnrichmentINS0.53
1638Aplasia cutis congenita, nonsyndromicEnrichmentUBA20.53
1639Craniometaphyseal dysplasia, autosomal dominantEnrichmentOTULIN0.53
1640Hypercholesterolemia, familial, 2EnrichmentAPOB0.53
1641Mesothelioma, malignantEnrichmentBAP10.53
1642Waardenburg syndrome, type 2aEnrichmentMITF0.53
1643Juvenile polyposis syndromeEnrichmentSMAD40.53
1644Thrombocythemia 1EnrichmentCALR0.53
1645Gm1-gangliosidosis, type iEnrichmentGLB10.53
1646Hypophosphatemic rickets, autosomal dominantEnrichmentFGF230.53
1647Maple syrup urine disease, type iaEnrichmentDBT0.53
1648MegalocorneaEnrichmentCHRDL10.53
1649Factor x deficiencyEnrichmentF100.53
1650Mucopolysaccharidosis, type ivbEnrichmentGLB10.53
1651Combined cellular and humoral immune defects with granulomasEnrichmentINO800.53
1652Nail disorder, nonsyndromic congenital, 4EnrichmentCOL7A10.53
1653Hypophosphatasia, infantileEnrichmentALPL0.53
1654Gastrointestinal defects and immunodeficiency syndrome 1EnrichmentMCFD20.53
1655Gm1-gangliosidosis, type iiEnrichmentGLB10.53
1656Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL0.53
1657Methylmalonic aciduria and homocystinuria, cblx typeEnrichmentHCFC10.53
1658Wilson diseaseEnrichmentALG110.53
1659Pelizaeus-merzbacher diseaseEnrichmentRAB9B0.53
1660Simpson-golabi-behmel syndrome, type 1EnrichmentGPC30.53
1661Mucopolysaccharidosis, type viEnrichmentARSB0.53
1662Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD10.53
1663Weaver syndromeEnrichmentSUZ120.53
166446,xx sex reversal 1EnrichmentNR5A10.53
1665Intellectual developmental disorder, x-linked 109EnrichmentSERPINA10.53
1666Neurodegeneration with brain iron accumulation 5EnrichmentOTUD50.53
1667Deafness, autosomal dominant 12EnrichmentTECTA0.53
1668Glomerulopathy with fibronectin deposits 2EnrichmentFN10.53
1669Nuchal bleb, familialEnrichmentCFTR0.53
1670Spastic paraplegia 2, x-linkedEnrichmentRAB9B0.53
1671Osteogenic sarcomaEnrichmentTP530.53
1672Alzheimer disease 4EnrichmentAPOE0.53
1673Glass syndromeEnrichmentSATB20.53
1674Cleft soft palateEnrichmentUBB0.53
1675Congenital disorder of glycosylation, type iigEnrichmentCOG10.53
1676Heparin cofactor ii deficiencyEnrichmentSERPIND10.53
1677Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A0.53
1678Nonaka myopathyEnrichmentGNE0.53
1679Muscular dystrophy-dystroglycanopathy , type c, 5EnrichmentFKRP0.53
1680Spondyloepimetaphyseal dysplasia, genevieve typeEnrichmentNANS0.53
1681Peroxisome biogenesis disorder 5bEnrichmentPEX20.53
1682Estrogen resistanceEnrichmentESR10.53
1683Multiple congenital anomalies-hypotonia-seizures syndrome 1EnrichmentPIGN0.53
1684Muscular dystrophy-dystroglycanopathy , type c, 3EnrichmentPOMGNT10.53
1685Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentCRPPA0.53
1686Pituitary adenoma 1, multiple typesEnrichmentMEN10.53
1687Cone-rod dystrophy 20EnrichmentPOC1B-GALNT40.53
1688Cenani-lenz syndactyly syndromeEnrichmentAPC0.53
1689Gm1-gangliosidosis, type iiiEnrichmentGLB10.53
1690Uv-sensitive syndrome 2EnrichmentERCC80.53
1691Congenital disorder of glycosylation, type ipEnrichmentALG110.53
1692Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentRNF1350.53
1693Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.53
1694Weill-marchesani syndrome 4EnrichmentADAMTS170.53
1695Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic faciesEnrichmentPMM10.53
1696Miller-dieker lissencephaly syndromeEnrichmentHIC10.53
1697Peroxisome biogenesis disorder 5aEnrichmentPEX20.53
1698Neuropathy, hereditary sensory, type ieEnrichmentDNMT10.53
1699Tumor predisposition syndrome 1EnrichmentBAP10.53
1700Epilepsy, progressive myoclonic, 6EnrichmentGOSR20.53
1701Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB80.53
1702Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN10.53
1703Deafness, autosomal recessive 21EnrichmentTECTA0.53
1704Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL10.53
1705Nizon-isidor syndromeEnrichmentFKRP0.53
1706Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A0.53
1707Deafness, x-linked 5, with peripheral neuropathyEnrichmentRAB33A0.53
1708Glycosylphosphatidylinositol biosynthesis defect 17EnrichmentPIGH0.53
1709Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA10.53
1710Muscular dystrophy, congenital, with or without seizuresEnrichmentGOSR20.53
1711Ehlers-danlos syndrome, classic-like, 3EnrichmentTHBS20.53
1712Primary polycythemiaEnrichmentVHL0.53
1713Tethered spinal cord syndromeEnrichmentCREBBP0.53
1714X-linked deafness 5EnrichmentRAB33A0.53
1715Bacteremia 2EnrichmentCISH0.53
1716Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP0.53
1717Umbilical herniaEnrichmentACTL6A0.53
1718Developmental and epileptic encephalopathy 80EnrichmentPIGB0.53
1719Autosomal recessive cutis laxa type iEnrichmentLTBP10.53
1720High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC0.53
1721Uv-sensitive syndromeEnrichmentERCC80.53
1722Dedifferentiated liposarcomaEnrichmentMDM20.53
1723Torsion dystonia 1EnrichmentEIF2AK20.53
1724Hennekam syndromeEnrichmentADAMTS30.53
1725Gm1 gangliosidosisEnrichmentGLB10.53
1726Atypical teratoid rhabdoid tumorEnrichmentTP530.53
1727Frontometaphyseal dysplasiaEnrichmentMAP3K70.53
1728KyphosisEnrichmentARF30.53
1729Squamous cell carcinomaEnrichmentTP530.53
1730Cellular ependymomaEnrichmentMEN10.53
1731Tanycytic ependymomaEnrichmentMEN10.53
1732Papillary ependymomaEnrichmentMEN10.53
1733AdenocarcinomaEnrichmentTP530.53
1734Intraocular pressure quantitative trait locusEnrichmentCREBBP0.53
1735Migraine without auraEnrichmentESR10.53
1736End stage renal diseaseEnrichmentGATA30.53
1737Laryngeal squamous cell carcinomaEnrichmentPTEN0.53
1738Bone osteosarcomaEnrichmentTP530.53
1739Growth hormone secreting pituitary adenomaEnrichmentMEN10.53
1740Bap1 tumor predisposition syndromeEnrichmentBAP10.53
1741Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA10.53
1742Gtp cyclohydrolase 1-deficient dopa-responsive dystoniaEnrichmentNR4A20.53
1743Aip familial isolated pituitary adenomasEnrichmentMEN10.53
1744Cog7-congenital disorder of glycosylationEnrichmentCOG70.53
1745Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentFBXO110.53
1746Colon adenocarcinomaEnrichmentAPC0.53
1747Advanced sleep phase syndromeEnrichmentCSNK1D0.53
1748Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B0.53
1749Aggressive periodontitisEnrichmentCTSC0.53
1750Well-differentiated liposarcomaEnrichmentMDM20.53
1751Clear cell ependymomaEnrichmentMEN10.53
1752Genetic atypical hemolytic-uremic syndromeEnrichmentC30.53
1753Alopecia - intellectual disability syndromeEnrichmentAHSG0.53
1754Atypical hypotonia-cystinuria syndromeEnrichmentCAMKMT0.53
1755EnchondromatosisEnrichmentHIF1A0.53
1756Thyroid hemiagenesisEnrichmentPSMD30.53
1757Intermittent maple syrup urine diseaseEnrichmentDBT0.53
1758Apc-associated polyposis conditionsEnrichmentAPC0.53
1759Congenital factor x deficiencyEnrichmentF100.53
1760Classic maple syrup urine diseaseEnrichmentDBT0.53
1761Linear porokeratosisEnrichmentMVD0.53
1762DystoniaEnrichmentAFG3L2, ARF3, GNB1, MT-ND1, MT-ND6, MYO5A, SATB20.52
1763Usher syndrome, type iiiaEnrichmentARSG, HARS10.52
1764ParkinsonismEnrichmentGBA1, MT-ND60.52
1765Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP, SORL10.52
1766Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, VCP0.52
1767Galloway-mowat syndromeEnrichmentNUP107, NUP1330.52
1768Stickler syndromeEnrichmentBMP4, VCAN0.52
1769Neurodegeneration with brain iron accumulationEnrichmentCP, DCAF170.52
1770PolymicrogyriaEnrichmentDYNC1H1, PSMC30.52
1771Progressive myoclonus epilepsyEnrichmentGOSR2, KCTD70.52
1772Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB10.52
1773Neuromuscular diseaseEnrichmentGOLGA2, SPTAN1, VWA10.50
1774Male infertilityEnrichmentAR, CFTR, GALNTL5, NR5A1, USP260.50
1775Diaphragmatic hernia, congenitalEnrichmentFBN1, GATA6, LONP10.48
1776Arteriovenous malformations of the brainEnrichmentCDH2, IL6, NLRP3, SARS10.46
1777Immune deficiency diseaseEnrichmentCOPB1, RIPK10.46
1778Xeroderma pigmentosum, variant typeEnrichmentDDB2, XPC0.46
1779Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR2, THBS20.46
1780MicrocephalyEnrichmentACTB, ALG13, ARF3, ASXL1, ATP5PO, COL7A1, COPB1, CTNNB1, DYNC1H1, EP300, GNB1, HARS1, IARS1, KARS1, NUP188, PSMC3, QARS1, SATB2, SMC1A, SVBP, TUBB4A0.44
1781Isolated growth hormone deficiency, type iaEnrichmentGH1, XRCC40.44
1782Lymphoma, non-hodgkin, familialEnrichmentB2M, TP530.44
1783Perrault syndromeEnrichmentHARS2, LARS20.44
1784Exudative vitreoretinopathyEnrichmentCTNNB1, PRSS230.44
1785Severe congenital neutropeniaEnrichmentSRP19, SRPRA0.44
1786Permanent neonatal diabetes mellitusEnrichmentINS, STAT30.44
1787Kaposi sarcomaEnrichmentIL60.43
1788Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentALB0.43
1789Amelogenesis imperfecta, type iiiaEnrichmentAMTN0.43
1790Trichorhinophalangeal syndrome, type iiEnrichmentRAD210.43
1791Branchiooculofacial syndromeEnrichmentTFAP2A0.43
1792Hypertriglyceridemia 1EnrichmentAPOA50.43
1793Dowling-degos disease 1EnrichmentADAM100.43
1794Intellectual developmental disorder, autosomal dominant 1EnrichmentMBD50.43
1795FucosidosisEnrichmentFUCA10.43
1796Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP20.43
1797Small cell cancer of the lungEnrichmentTP530.43
1798Deafness, autosomal recessive 1aEnrichmentERCC80.43
1799ChordomaEnrichmentPALB20.43
1800Erythrocytosis, familial, 2EnrichmentVHL0.43
1801Multiple acyl-coa dehydrogenase deficiencyEnrichmentETFB0.43
1802Thyroid cancer, nonmedullary, 1EnrichmentTP530.43
1803Macular degeneration, age-related, 1EnrichmentAPOE0.43
1804Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA10.43
1805Paget disease of bone 2, early-onsetEnrichmentSQSTM10.43
1806Infantile sialic acid storage diseaseEnrichmentSLC17A50.43
1807Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA10.43
1808Lipodystrophy, familial partial, type 3EnrichmentPPARG0.43
1809ChoroideremiaEnrichmentCHM0.43
1810Immunodeficiency, common variable, 1EnrichmentNFKB20.43
1811Salla diseaseEnrichmentSLC17A50.43
1812Myopathy, autophagic vacuolar, infantile-onsetEnrichmentGNE0.43
1813Spinocerebellar ataxia 15EnrichmentSUMF10.43
1814Long qt syndrome 2EnrichmentALG10B0.43
1815Chondrocalcinosis 2EnrichmentOTULIN0.43
1816CholangiocarcinomaEnrichmentBRCA10.43
1817Peeling skin syndrome 3EnrichmentCHST80.43
1818Congenital disorder of glycosylation, type iiiEnrichmentCOG50.43
1819Aminoacylase 1 deficiencyEnrichmentACTB0.43
1820Spermatogenic failure 1EnrichmentNR5A10.43
1821Muscular dystrophy-dystroglycanopathy , type c, 7EnrichmentCRPPA0.43
1822Congenital generalized lipodystrophyEnrichmentPPARG0.43
1823Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR10.43
1824BlepharophimosisEnrichmentFOXL20.43
1825Congenital muscular dystrophy-dystroglycanopathy type a7EnrichmentCRPPA0.43
1826Neonatal diabetes mellitusEnrichmentINS0.43
1827Intrahepatic cholestasis of pregnancyEnrichmentNR1H40.43
1828Lung sarcomatoid carcinomaEnrichmentTP530.43
1829Chronic myelomonocytic leukemiaEnrichmentASXL10.43
1830Ectodermal dysplasiaEnrichmentRANBP20.43
1831Retinopathy of prematurityEnrichmentPRSS230.43
1832Rhizomelic chondrodysplasia punctataEnrichmentPEX50.43
1833Embryonal rhabdomyosarcomaEnrichmentTP530.43
1834TuberculosisEnrichmentCISH0.43
1835ProlactinomaEnrichmentMEN10.43
1836Pregnancy loss, recurrent 1EnrichmentF50.43
1837Mucopolysaccharidosis ivEnrichmentTRAPPC2L0.43
1838Muscular dystrophy-dystroglycanopathy , type a, 7EnrichmentCRPPA0.43
1839Idiopathic bronchiectasisEnrichmentCFTR0.43
1840Malignant hyperthermiaEnrichmentASPH0.43
1841PorokeratosisEnrichmentMVD0.43
1842Epidermolytic hyperkeratosisEnrichmentCOL7A10.43
1843Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN10.43
1844Gjb2-related autosomal recessive nonsyndromic hearing lossEnrichmentERCC80.43
1845Cog5-congenital disorder of glycosylationEnrichmentCOG50.43
18462p21 microdeletion syndromeEnrichmentCAMKMT0.43
1847Paget's disease of bone 2EnrichmentSQSTM10.43
1848Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTP53BP10.43
1849Intermediate maple syrup urine diseaseEnrichmentDBT0.43
1850Mitral valve insufficiencyEnrichmentFBN10.43
1851Pediatric systemic lupus erythematosusEnrichmentSPP10.43
1852Primary hyperparathyroidismEnrichmentMEN10.43
1853Systemic mastocytosis with associated hematologic neoplasmEnrichmentASXL10.43
1854Intermediate nemaline myopathyEnrichmentKLHL410.43
1855Systemic-onset juvenile idiopathic arthritisEnrichmentIL60.43
1856GliomaEnrichmentPTEN0.43
1857Benign ependymomaEnrichmentMEN10.43
1858Clear cell papillary renal cell carcinomaEnrichmentMITF0.43
1859Atypical glycine encephalopathyEnrichmentGCSH0.43
1860Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentKNG10.43
1861Pseudomyogenic hemangioendotheliomaEnrichmentACTB0.43
1862Aortic aneurysm, familial thoracic 1EnrichmentFBN1, GATA4, SMAD30.42
1863Periventricular nodular heterotopiaEnrichmentARF1, ARFGEF2, BRCA10.42
1864CataractEnrichmentCOPB1, IARS2, WRN0.42
1865Focal segmental glomerulosclerosisEnrichmentAPOL1, NUP93, PMM20.42
1866Cystic fibrosisEnrichmentCFTR, DCTN4, PLG, SERPINA1, STX1A, TGFB10.42
1867Primary autosomal recessive microcephalyEnrichmentCOPB2, NUP37, PHC1, SARS1, TRAPPC10, WARS10.42
1868Tetralogy of fallotEnrichmentGATA4, GATA6, MT-CO1, MT-CO2, MT-CO30.42
1869Digeorge syndromeEnrichmentSEC24C, UFD10.41
1870MeningiomaEnrichmentBAP1, PTEN0.41
1871Lip and oral cavity carcinomaEnrichmentCDKN2A, TP530.41
1872Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT30.40
1873Angioedema, hereditary, 1EnrichmentPLG0.40
1874Keratoderma, palmoplantar, with deafnessEnrichmentMT-CO10.40
1875Visceral steatosis, congenitalEnrichmentYARS10.40
1876Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathyEnrichmentMT-ND30.40
1877Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG20.40
1878Mitochondrial complex iv deficiency, nuclear type 5EnrichmentATP5F1A0.40
1879Gillespie syndromeEnrichmentPAX60.40
1880Gaucher disease, type iiEnrichmentGBA10.40
1881Spinocerebellar ataxia, autosomal recessive 2EnrichmentPMPCA0.40
1882Heart defects, congenital, and other congenital anomaliesEnrichmentGATA60.40
1883Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC0.40
1884Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP20.40
1885Mitochondrial dna depletion syndrome 7EnrichmentTWNK0.40
1886Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMTRFR0.40
1887Spastic paraplegia 7, autosomal recessiveEnrichmentSPG70.40
1888Body mass index quantitative trait locus 12EnrichmentPCSK10.40
1889Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA110.40
1890Glaucoma, normal tensionEnrichmentOPA10.40
1891Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB10.40
1892Infantile cerebellar-retinal degenerationEnrichmentACO20.40
1893Atrial standstill 2EnrichmentNPPA0.40
1894Optic atrophy 9EnrichmentACO20.40
1895Spinocerebellar ataxia 36EnrichmentNOP560.40
1896Anus, imperforateEnrichmentCTNNB10.40
1897Proprotein convertase 1/3 deficiencyEnrichmentPCSK10.40
1898Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentQARS10.40
1899Microcephaly, developmental delay, and brittle hair syndromeEnrichmentCARS10.40
1900Exudative vitreoretinopathy 7EnrichmentCTNNB10.40
1901Mitochondrial complex v deficiency, nuclear type 7EnrichmentATP5PO0.40
1902Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1EnrichmentARL20.40
1903Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT30.40
1904Chronic progressive external ophthalmoplegiaEnrichmentTWNK0.40
1905Autosomal dominant cutis laxaEnrichmentALDH18A10.40
1906Isolated growth hormone deficiency, type ibEnrichmentGH10.40
1907Hyperinsulinemic hypoglycemiaEnrichmentHADH0.40
1908Cerebellar diseaseEnrichmentAFG3L20.40
1909Mitochondrial complex v deficiency, nuclear type 1EnrichmentNDUFS10.40
1910Macrocytic anemiaEnrichmentRPL170.40
1911Mitochondrial complex i deficiency, nuclear type 35EnrichmentNARS10.40
1912Gonadal dysgenesisEnrichmentMT-ATP60.40
1913Gaucher's diseaseEnrichmentGBA10.40
19143-methylglutaconic aciduriaEnrichmentYME1L10.40
1915Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresEnrichmentWARS20.40
1916Mitochondrial complex i deficiency, nuclear type 28EnrichmentNDUFA130.40
1917Trichohepatoenteric syndromeEnrichmentSKIC20.40
1918Steatotic liver diseaseEnrichmentYARS10.40
1919Myelodysplastic syndrome with ring sideroblastsEnrichmentMT-CO10.40
1920Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF20.40
1921Autosomal dominant optic atrophy, classic formEnrichmentOPA10.40
1922Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN0.40
1923Dend syndromeEnrichmentNARS20.40
1924Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC0.40
1925Leber plus diseaseEnrichmentCCT2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, RGS9, TUBB4B0.39
1926Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST, FH, MDH2, VHL0.38
1927HydrocephalusEnrichmentARFGEF2, DPH1, POMGNT10.38
1928Long qt syndrome 1EnrichmentANK2, CALM1, CALM2, CALM30.37
1929Breast-ovarian cancer, familial 1EnrichmentBRCA1, PALB20.37
1930Pulmonary disease, chronic obstructiveEnrichmentSERPINA1, VDR0.37
1931Amelogenesis imperfectaEnrichmentAMELX, ENAM0.37
1932Nk-cell enteropathyEnrichmentAURKB, CUL30.37
1933Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.35
1934Alzheimer disease 2EnrichmentAPOE0.35
1935Epidermolytic hyperkeratosis 1EnrichmentCOL7A10.35
1936Kbg syndromeEnrichmentTRAPPC2L0.35
1937Hyperlipidemia, familial combined, 3EnrichmentAPOB0.35
1938Choroidal dystrophy, central areolar, 1EnrichmentTTLL50.35
1939Fanconi anemia, complementation group d2EnrichmentVHL0.35
1940Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN10.35
1941Spherocytosis, type 1EnrichmentANK10.35
1942Cockayne syndrome aEnrichmentERCC80.35
1943Mucopolysaccharidosis, type ivaEnrichmentTRAPPC2L0.35
1944Von hippel-lindau syndromeEnrichmentVHL0.35
1945Variegate porphyriaEnrichmentB4GALT30.35
1946Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.35
1947Congenital disorder of glycosylation, type idEnrichmentALG30.35
1948Vitamin d-dependent rickets, type 2aEnrichmentVDR0.35
1949Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentGANAB0.35
1950Parkinson disease 2, autosomal recessive juvenileEnrichmentPRKN0.35
1951Norrie diseaseEnrichmentPRSS230.35
1952Rhabdomyosarcoma 2EnrichmentTP530.35
1953Macrocephaly/autism syndromeEnrichmentPTEN0.35
1954Rheumatoid arthritis, systemic juvenileEnrichmentIL60.35
1955Chondrosarcoma, extraskeletal myxoidEnrichmentTFG0.35
1956Breast-ovarian cancer, familial 2EnrichmentBRCA10.35
1957Congenital disorder of glycosylation, type ilEnrichmentALG90.35
1958Goldberg-shprintzen syndromeEnrichmentFBN10.35
1959Familial adenomatous polyposis 1EnrichmentAPC0.35
1960Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.35
1961Rubinstein-taybi syndrome 2EnrichmentEP3000.35
1962Systemic lupus erythematosus 16EnrichmentC4A0.35
1963Fuchs' endothelial dystrophyEnrichmentAGBL10.35
1964AmblyopiaEnrichmentTFAP2A0.35
1965Spastic diplegiaEnrichmentIFIH10.35
1966LymphomaEnrichmentTP530.35
1967Acute myeloid leukemia with maturationEnrichmentNPM10.35
1968Myeloproliferative neoplasmEnrichmentDNMT3A0.35
1969GlioblastomaEnrichmentDNMT3A0.35
1970Epidermolysis bullosaEnrichmentCOL7A10.35
1971Night blindnessEnrichmentCHM0.35
1972Spinal muscular atrophyEnrichmentDYNC1H10.35
1973Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentNR5A10.35
1974Parkin type of early-onset parkinson diseaseEnrichmentPRKN0.35
1975Alg9-congenital disorder of glycosylationEnrichmentALG90.35
1976Aplasia cutis congenitaEnrichmentUBA20.35
1977Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP20.35
1978Female infertility due to oocyte meiotic arrestEnrichmentTUBB80.35
1979HemimegalencephalyEnrichmentPTEN0.35
1980Herpes simplex virus encephalitisEnrichmentTRAF30.35
1981Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentETFB0.35
1982Aggressive systemic mastocytosisEnrichmentASXL10.35
1983Genetic motor neuron diseaseEnrichmentDCTN10.35
1984Endometrial stromal sarcomaEnrichmentSUZ120.35
1985Severe congenital nemaline myopathyEnrichmentKLHL410.35
1986Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD40.35
1987Multiple acyl-coa dehydrogenase deficiency, mild typeEnrichmentETFB0.35
1988Familial cerebral saccular aneurysmEnrichmentTHSD10.35
1989Multisystem inflammatory syndrome in childrenEnrichmentIFIH1, RAB27A, TRAF30.35
1990Non-immune hydrops fetalisEnrichmentCTSA, NEU1, PIGC, THSD10.35
1991Leukemia, acute myeloidEnrichmentASXL1, DNMT3A, NPM1, NUP214, TP530.34
1992Attention deficit-hyperactivity disorderEnrichmentGNB5, KIF5B, MT-ND1, RPL170.34
1993Charcot-marie-tooth diseaseEnrichmentAARS1, DCTN1, DYNC1H1, GARS1, MT-ATP6, TFG, TTR0.34
1994HypertensionEnrichmentDARS2, GBA1, MEN10.33
1995Myoclonic epilepsy of unverricht and lundborgEnrichmentGOSR2, KCTD70.33
1996Lung cancer susceptibility 3EnrichmentPRKN, TP530.33
1997Lung cancerEnrichmentBRCA1, NFE2L2, PALB2, PRKN0.32
1998Connective tissue diseaseEnrichmentFBN1, SMAD3, TGFBR2, TRAPPC20.32
1999Cat eye syndromeEnrichmentPAX6, TFAP2A0.32
2000Leukemia, chronic lymphocyticEnrichmentRPS15, TP530.32
2001Primary ovarian insufficiencyEnrichmentADAMTS1, ADAMTS6, AFP, LRRC41, NR5A2, PMM2, THBS10.32
2002Aniridia 1EnrichmentPAX60.31
2003Isolated growth hormone deficiency, type iiEnrichmentGH10.31
2004Gaucher disease, type iEnrichmentGBA10.31
2005Trichohepatoenteric syndrome 1EnrichmentSKIC20.31
2006Mitochondrial dna depletion syndrome 6EnrichmentUCN0.31
2007Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.31
2008Myopathy, lactic acidosis, and sideroblastic anemia 1EnrichmentYARS20.31
2009Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.31
2010Propionic acidemiaEnrichmentPCCB0.31
2011PilomatrixomaEnrichmentCTNNB10.31
2012Mitochondrial complex v deficiency, nuclear type 3EnrichmentUQCRC20.31
2013Alazami syndromeEnrichmentCTNNB10.31
2014Combined oxidative phosphorylation deficiency 32EnrichmentMRPS340.31
2015EnophthalmosEnrichmentCSNK2B0.31
2016SyndactylyEnrichmentCSNK2B0.31
2017Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN0.31
2018Dowling-degos diseaseEnrichmentPSENEN0.31
2019Combined oxidative phosphorylation deficiency 24EnrichmentNARS20.31
2020Corneal dystrophyEnrichmentTGFBI0.31
20213-methylglutaconic aciduria, type viiiEnrichmentHTRA20.31
2022Eyelid colobomaEnrichmentPAX60.31
2023Silver-russell syndrome due to a point mutationEnrichmentIGF20.31
2024Immunodeficiency by defective expression of mhc class iEnrichmentB2M0.31
2025Transposition of the great arteriesEnrichmentGATA40.31
2026Middle aortic syndromeEnrichmentGATA60.31
2027Primary fanconi renotubular syndromeEnrichmentSLC34A10.31
2028Oculomotor apraxiaEnrichmentHARS10.31
2029Lens colobomaEnrichmentPAX60.31
2030Familial sick sinus syndromeEnrichmentGNB20.31
2031ScoliosisEnrichmentARF3, CREBBP, FBN10.30
2032Cockayne syndrome bEnrichmentERCC80.30
2033Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentGLB10.30
2034Developmental dysplasia of the hip 1EnrichmentPSMC30.30
2035Branchiootorenal syndrome 1EnrichmentTFAP2A0.30
2036Machado-joseph diseaseEnrichmentATXN30.30
2037Cowden syndrome 1EnrichmentPTEN0.30
2038Facioscapulohumeral muscular dystrophy 1EnrichmentDNMT3B0.30
2039Cholestasis, progressive familial intrahepatic, 1EnrichmentNR1H40.30
2040Peroxisome biogenesis disorder 1aEnrichmentPEX50.30
2041Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B0.30
2042Ritscher-schinzel syndrome 1EnrichmentCCDC220.30
2043Waardenburg syndrome, type 4aEnrichmentMITF0.30
2044Wilms tumor 5EnrichmentTRIM280.30
2045Spinocerebellar ataxia, autosomal recessive 16EnrichmentSUMF10.30
2046Pontocerebellar hypoplasia, type 1eEnrichmentAGTPBP10.30
2047Familial adult myoclonic epilepsyEnrichmentMARCHF60.30
2048Mitochondrial dna depletion syndromeEnrichmentFBXL40.30
2049Intestinal pseudo-obstructionEnrichmentTFAP2B0.30
2050Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentDNMT3B0.30
2051Lipid metabolism disorderEnrichmentAPOE0.30
2052Patent ductus arteriosusEnrichmentPSMC30.30
2053Pulmonary fibrosisEnrichmentMUC5B0.30
2054Clear cell renal cell carcinomaEnrichmentBAP10.30
2055Early myoclonic encephalopathyEnrichmentTUBA1A0.30
2056Fetomaternal alloimmune thrombocytopenia 1EnrichmentCD1090.30
2057Breast adenocarcinomaEnrichmentTP530.30
2058Lung squamous cell carcinomaEnrichmentCDKN2A0.30
2059Classic ehlers-danlos syndromeEnrichmentTGFBR10.30
2060Waardenburg syndromeEnrichmentMITF0.30
2061Autosomal dominant secondary polycythemiaEnrichmentEPAS10.30
2062Typical nemaline myopathyEnrichmentKLHL410.30
2063Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentC30.30
2064Sudden infant death syndromeEnrichmentCALM2, MT-ND1, PDHA10.29
2065Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMITF, TECTA, TNC, TRRAP, USP48, WFS10.29
2066Familial atrial fibrillationEnrichmentGATA4, GATA6, NPPA, NUP1550.28
2067Autosomal dominant non-syndromic intellectual disabilityEnrichmentARF3, CSNK2B, DYNC1H1, EEF1A2, GNB1, GRIA1, MBD5, RAB11A0.28
2068Migraine with or without aura 1EnrichmentESR1, MT-ND10.28
2069Leukemia, acute lymphoblasticEnrichmentCDKN2A, GNB10.28
2070Atrial heart septal defectEnrichmentACTL6A, RPL50.28
2071Interatrial communicationEnrichmentACTL6A, RPL50.28
2072Creatine phosphokinase, elevated serumEnrichmentDAG1, GMPPB0.27
2073Isolated elevated serum creatine phosphokinase levelsEnrichmentDAG1, GMPPB0.27
2074Fanconi anemia, complementation group aEnrichmentBRCA1, PALB2, UBE2T, VHL0.26
2075Beckwith-wiedemann syndromeEnrichmentCOL7A1, IGF2, MRPL230.26
2076Patent foramen ovaleEnrichmentGATA4, GATA6, PSMC30.26
2077Nevus, epidermalEnrichmentCOL7A10.25
2078Meniere diseaseEnrichmentTECTA0.25
2079Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentALG90.25
2080Prader-willi syndromeEnrichmentHERC20.25
2081Thyroid cancer, nonmedullary, 2EnrichmentPTEN0.25
2082Waardenburg syndrome, type 1EnrichmentMITF0.25
2083Mitochondrial dna depletion syndrome 4aEnrichmentRANBP20.25
2084MyelofibrosisEnrichmentCALR0.25
2085Brugada syndrome 1EnrichmentFBN10.25
2086Coats diseaseEnrichmentPRSS230.25
2087Intervertebral disc diseaseEnrichmentTHBS20.25
2088Gastrointestinal stromal tumorEnrichmentMEN10.25
2089Waardenburg syndrome, type 2eEnrichmentMITF0.25
2090Renal cell carcinoma, papillary, 1EnrichmentVHL0.25
2091Progressive familial intrahepatic cholestasisEnrichmentGLB10.25
2092Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT10.25
2093Alzheimer's disease 1EnrichmentAPP0.25
2094Polycystic kidney disease 1EnrichmentALG90.25
2095Branchiootorenal syndromeEnrichmentTFAP2A0.25
2096Cockayne syndromeEnrichmentERCC80.25
2097Hereditary hemorrhagic telangiectasiaEnrichmentSMAD40.25
2098Common variable immunodeficiencyEnrichmentNFKB20.25
2099Focal epilepsyEnrichmentSPTAN10.25
2100Follicular thyroid carcinomaEnrichmentPTEN0.25
2101Amelogenesis imperfecta type 2EnrichmentAMELX0.25
2102Hereditary clear cell renal cell carcinomaEnrichmentRNF1390.25
2103Non-syndromic x-linked intellectual disabilityEnrichmentALG13, HCFC1, RAB39B, USP9X0.24
2104Developmental and epileptic encephalopathyEnrichmentPIGQ, SEC24C, SPTAN1, ST3GAL30.24
21053-methylglutaconic aciduria, type iiiEnrichmentOPA10.24
2106Neuronopathy, distal hereditary motor, autosomal dominant 5EnrichmentGARS10.24
2107Insulin-like growth factor iEnrichmentIGF10.24
2108Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisEnrichmentTWNK0.24
2109Liver failure, infantile, transientEnrichmentLARS10.24
2110Mitochondrial complex iii deficiency, nuclear type 4EnrichmentUQCRQ0.24
2111Ventricular septal defect 1EnrichmentGATA40.24
2112Ciliary dyskinesia, primary, 40EnrichmentSRP540.24
2113PolyneuropathyEnrichmentSPG70.24
2114Autosomal dominant severe congenital neutropeniaEnrichmentSRP190.24
2115DementiaEnrichmentGBA10.24
2116AniridiaEnrichmentPAX60.24
2117Familial glucocorticoid deficiencyEnrichmentSTAR0.24
2118Coloboma of choroid and retinaEnrichmentPAX60.24
2119Persistent truncus arteriosusEnrichmentGATA60.24
2120Mitochondrial oxidative phosphorylation disorderEnrichmentMTFMT0.24
2121Dandy-walker syndromeEnrichmentDPH1, TUBA1A0.24
2122EpicanthusEnrichmentRPL17, TFAP2A0.24
2123Behcet syndromeEnrichmentADA2, C4A, NOD20.23
2124Early infantile developmental and epileptic encephalopathyEnrichmentPIGP, PIGQ0.22
2125Semilobar holoprosencephalyEnrichmentSMC1A, STAG20.22
2126Gastroesophageal refluxEnrichmentACTL6A0.22
2127Myopathy, tubular aggregate, 1EnrichmentDPAGT10.22
2128Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentHCFC10.22
2129Orthostatic intoleranceEnrichmentFBN10.22
2130Ewing sarcomaEnrichmentBAP10.22
2131Mitochondrial dna depletion syndrome 4bEnrichmentRANBP20.22
2132CryptorchidismEnrichmentTUBA1A0.22
2133Aortic valve disease 1EnrichmentMT-ATP6, MT-ATP80.20
2134Premature menopauseEnrichmentEIF2B2, MRPS70.20
2135Sensorineural hearing lossEnrichmentAFG3L2, HARS2, KARS1, MRPS7, NARS2, RAB33A, TECTA0.20
2136Klippel-trenaunay-weber syndromeEnrichmentGNAQ0.19
2137Coloboma of optic nerveEnrichmentPAX60.19
2138Alcohol dependenceEnrichmentALDH20.19
2139Weyers acrofacial dysostosisEnrichmentCTNNB10.19
2140Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentTWNK0.19
2141Conotruncal heart malformationsEnrichmentGATA60.19
2142Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentPAX60.19
2143Hemorrhage, intracerebralEnrichmentACE0.19
2144PancytopeniaEnrichmentRPL170.19
2145Tooth agenesis, selective, 1EnrichmentAXIN20.19
2146Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR0.19
2147Nephrotic syndrome, type 1EnrichmentALG10.19
2148Charge syndromeEnrichmentEP3000.19
2149Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.19
2150Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.19
2151Leukemia, acute lymphoblastic 3EnrichmentPALB20.19
2152Developmental and epileptic encephalopathy 14EnrichmentPIGA0.19
2153Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentASXL10.19
2154Progressive non-fluent aphasiaEnrichmentVCP0.19
2155Limb-girdle muscular dystrophyEnrichmentFKRP0.19
2156Cowden syndromeEnrichmentPTEN0.19
2157Aicardi-goutiares syndromeEnrichmentIFIH10.19
2158MyopathyEnrichmentDPM3, DYNC1H1, FBN1, FKRP0.18
2159Type 2 diabetes mellitusEnrichmentIL6, PPARG, SLC30A8, TCF7L2, WFS1, WRN0.18
2160Heart diseaseEnrichmentCREBBP, GATA40.18
2161Hereditary chronic pancreatitisEnrichmentCFTR, SPG70.18
216246,xy partial gonadal dysgenesisEnrichmentGATA4, NR5A10.18
2163Long qt syndromeEnrichmentANK2, CALM1, CALM20.17
2164Non-syndromic genetic deafnessEnrichmentKARS1, LARS2, MITF, TECTA, WFS10.17
2165Body mass index quantitative trait locus 11EnrichmentDNMT3A, FBXO11, GHRL, MT-CYB, PCSK1, POMC, PPARG0.17
2166Amyotrophic lateral sclerosis 1EnrichmentDCTN10.16
2167Lynch syndrome 1EnrichmentPALB20.16
2168Omenn syndromeEnrichmentPSMB100.16
2169Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentGFPT10.16
2170Aicardi-goutieres syndromeEnrichmentIFIH10.16
2171Nemaline myopathyEnrichmentKLHL410.16
2172Primary bone dysplasiaEnrichmentCOPB10.16
2173Silver-russell syndrome 1EnrichmentIGF20.16
2174Third-degree atrioventricular blockEnrichmentTWNK0.16
2175Retinal degenerationEnrichmentYARS10.16
2176Anterior segment dysgenesisEnrichmentADAMTS17, PAX60.15
2177Neuronal ceroid lipofuscinosisEnrichmentCTSD, KCTD70.15
2178NephronophthisisEnrichmentADAMTS9, INCENP, PIAS10.14
2179Orofaciodigital syndrome viEnrichmentTOPORS0.14
2180AsthmaEnrichmentMUC70.14
2181Frontotemporal dementia 1EnrichmentDCTN10.14
2182Meningioma, familialEnrichmentPTEN0.14
2183OsteochondrodysplasiaEnrichmentCOPB10.14
2184IchthyosisEnrichmentCOL7A10.14
2185Specific learning disabilityEnrichmentDNMT3A0.14
2186MalariaEnrichmentCISH, IKBKG0.13
2187Hydrocephalus, congenital, 1EnrichmentMT-ND1, POMT10.13
2188Narcolepsy 1EnrichmentCTSH0.13
2189HypothyroidismEnrichmentGNB10.13
2190Choreatic diseaseEnrichmentAFG3L20.13
2191Short-rib thoracic dysplasia 3 with or without polydactylyEnrichmentDYNC1H10.12
2192Juvenile myelomonocytic leukemiaEnrichmentASXL10.12
2193Congenital hypothyroidismEnrichmentTUBB10.12
2194Renal hypodysplasia/aplasia 3EnrichmentBMP40.12
2195Hypertension, essentialEnrichmentAGT, GNB30.11
2196Pancreatitis, hereditaryEnrichmentCFTR, SPG70.11
2197Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCCNF, DCTN1, PPARGC1A, SQSTM1, VCP0.11
2198Ellis-van creveld syndromeEnrichmentPRKACA0.11
2199Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentEIF3F0.11
2200Autosomal dominant cerebellar ataxiaEnrichmentOPA10.11
2201Hypotrichosis simplexEnrichmentRPL210.11
2202Hydrops fetalisEnrichmentSLC30A50.11
2203Heart, malformation ofEnrichmentARF3, GATA40.10
2204Hydrops fetalis, nonimmuneEnrichmentCTSA, NEU10.10
2205PheochromocytomaEnrichmentVHL0.09
2206Seckel syndromeEnrichmentNUP850.09
2207Congenital myasthenic syndromeEnrichmentGFPT10.09
2208Cleft lip/palateEnrichmentBMP40.09
2209Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH20.09
2210Pituitary stalk interruption syndromeEnrichmentDNMT10.09
2211Hereditary spastic paraplegiaEnrichmentALDH18A1, KIF5A, RAB9B, SPG7, SPTAN10.09
2212Nonsyndromic hearing lossEnrichmentKARS1, LARS2, MITF, TECTA, WFS10.09
2213AutismEnrichmentARF3, CREBBP, GSPT2, MBD5, PRKN, RPL17, SRD5A3, STX1A, TCF7L20.09
2214Aplastic anemiaEnrichmentRPL50.09
2215NephrocalcinosisEnrichmentSLC34A10.09
2216NephrolithiasisEnrichmentSLC34A10.09
2217Dyskeratosis congenitaEnrichmentNPM1, WRAP530.09
2218Coffin-siris syndrome 1EnrichmentARSL0.08
2219Polydactyly, postaxial, type a1EnrichmentEP3000.08
2220MyopiaEnrichmentFBN10.08
2221Hermansky-pudlak syndromeEnrichmentCP0.08
2222Kidney diseaseEnrichmentLAMB20.08
2223Asphyxiating thoracic dystrophyEnrichmentRAB34, SPTAN10.08
2224Williams-beuren syndromeEnrichmentEIF4H, STX1A0.07
2225Hirschsprung disease 1EnrichmentAXIN2, NUP980.07
2226Severe covid-19EnrichmentHLA-A, MUC5B0.07
2227Movement diseaseEnrichmentGBA10.07
2228Mitochondrial myopathyEnrichmentLARS20.07
2229Familial colorectal cancer type xEnrichmentRPS200.07
2230Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPMM20.07
2231Hermansky-pudlak syndrome 1EnrichmentCP0.07
2232Alobar holoprosencephalyEnrichmentSTAG20.06
2233Nephrotic syndromeEnrichmentFN1, LAMB2, NUP930.06
2234Myoclonic epilepsy associated with ragged-red fibersEnrichmentMT-ND50.06
2235Restrictive cardiomyopathyEnrichmentMT-ND10.06
2236West syndromeEnrichmentPIGA, SPTAN1, TUBA1A0.06
2237Charcot-marie-tooth disease type 4EnrichmentDYNC1H10.06
2238Early-onset nuclear cataractEnrichmentWFS10.06
2239Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, CFTR, LEO1, NR5A10.06
2240MicrophthalmiaEnrichmentPAX6, TFAP2A0.06
2241Skin diseaseEnrichmentCOL7A1, NCSTN0.06
2242Microphthalmia/coloboma 12EnrichmentPAX60.05
2243Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentDARS20.05
2244Pulmonary hypertension, primary, 1EnrichmentRPL50.05
2245ClubfootEnrichmentDARS20.05
2246Chromosome 1p36 deletion syndromeEnrichmentHSPG20.05
2247EpilepsyEnrichmentMT-CO3, MT-CYB, NR4A2, PIGQ0.05
2248Congenital myopathyEnrichmentALG140.05
2249Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentRAB34, SPTAN10.05
2250Severe combined immunodeficiencyEnrichmentMCFD2, PGM30.05
2251Brittle bone disorderEnrichmentALPL, EIF2B20.05
2252CakutEnrichmentGATA3, NRIP10.04
2253Maturity-onset diabetes of the youngEnrichmentINS0.04
2254CraniosynostosisEnrichmentTFAP2B0.04
2255Lipoid congenital adrenal hyperplasiaEnrichmentSTAR0.04
2256Isolated macular dystrophyEnrichmentACO20.04
2257Hypertrophic cardiomyopathyEnrichmentKIF5B, NDUFA13, PMPCA, SLC30A50.04
2258Coloboma of maculaEnrichmentPAX60.04
2259Osteogenesis imperfecta, type iiiEnrichmentSLC34A10.04
2260Fetal akinesia deformation sequence 1EnrichmentNUP88, TUBA1A0.03
2261Non-syndromic male infertility due to sperm motility disorderEnrichmentUSP260.03
2262Ear malformationEnrichmentMITF0.03
2263Cone dystrophyEnrichmentSRD5A30.03
2264Jeune thoracic dystrophyEnrichmentSPTAN10.02
2265Undetermined early-onset epileptic encephalopathyEnrichmentAARS1, DHDDS, EEF1A2, NUS1, PARS20.02
2266Pontocerebellar hypoplasiaEnrichmentRARS20.02
2267SchizophreniaEnrichmentMBD5, PRKN, TRAPPC90.02
2268Macs syndromeEnrichmentPAX60.01
2269Centronuclear myopathyEnrichmentOPA10.01
2270Deafness, autosomal recessiveEnrichmentGOSR2, OTOA, TECTA0.01
2271Autosomal recessive nonsyndromic deafnessEnrichmentGOSR2, OTOA, TECTA0.01
2272Usher syndromeEnrichmentARSG0.01
2273Rare genetic deafnessEnrichmentMITF, OTOA, TECTA, WFS10.01
2274Congenital stationary night blindnessEnrichmentGNB30.01
2275Eye diseaseEnrichmentCHM0.01
2276Familial isolated dilated cardiomyopathyEnrichmentDOLK, FKTN0.01
2277Developmental and epileptic encephalopathy 1EnrichmentMDH20.01
2278StrabismusEnrichmentGNB10.00
2279Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.00
2280Bardet-biedl syndromeEnrichmentTRAPPC30.00
2281Meckel syndrome, type 1EnrichmentEXOC40.00
2282Centralopathic epilepsyEnrichmentSPTAN10.00
2283Stargardt disease 1EnrichmentOPA10.00
2284Retinitis pigmentosaEnrichmentAGBL5, CHM, DHDDS, HK1, IDH3A, LARGE1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, POMGNT1, TFPT, TOPORS, TTLL50.00
2285Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGOSR2, KARS1, MSRB3, NARS2, OTOA, TECTA0.00
2286Dilated cardiomyopathyEnrichmentFBN1, FKTN, GATA6, KIF5B, TSFM0.00
2287Left ventricular noncompactionEnrichmentSLC30A50.00
2288Distal arthrogryposisEnrichmentEARS20.00
2289Cone-rod dystrophy 2EnrichmentTTLL50.00
2290Hereditary retinal dystrophyEnrichmentAGBL5, CHM, DHDDS, HK1, POC1B-GALNT4, POMGNT1, PRSS23, SPP2, TOPORS, TTLL5, VCAN, WFS10.00
2291Fundus dystrophyEnrichmentAGBL5, CHM, DHDDS, HK1, POC1B-GALNT4, POMGNT1, PRSS23, SPP2, TOPORS, TTLL5, VCAN, WFS10.00

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