Peptide chain elongation

Pathway network for the Peptide chain elongation SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)
  • WikiPathways
  • PubChem

Pathways in the Peptide chain elongation SuperPath

#NameSourceGenes
1Peptide chain elongationReactome
2Metabolism of amino acids and derivativesReactome
(see all 352) (see less)
3TranslationReactome
(see all 311) (see less)
4Cellular response to starvationReactome
5Cap-dependent Translation InitiationReactome
6Eukaryotic Translation InitiationReactome
7Selenoamino acid metabolismReactome
8Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)Reactome
9Nonsense-Mediated Decay (NMD)Reactome
10GTP hydrolysis and joining of the 60S ribosomal subunitReactome
11SRP-dependent cotranslational protein targeting to membraneReactome
12L13a-mediated translational silencing of Ceruloplasmin expressionReactome
13Response of EIF2AK4 (GCN2) to amino acid deficiencyReactome
14Formation of a pool of free 40S subunitsReactome
15Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)Reactome
16Selenocysteine synthesisReactome
17Eukaryotic Translation TerminationReactome
18Eukaryotic Translation ElongationReactome
19Viral mRNA TranslationReactome
20CFTR translational fidelity (class I mutations)GeneGo (Thomson Reuters)
21Cytoplasmic ribosomal proteinsWikiPathways
22Amino acids regulate mTORC1Reactome
23Metabolism of ingested SeMet, Sec, MeSec into H2SeReactome
24Metabolism of ingested H2SeO4 and H2SeO3 into H2SeReactome
25sulfate activation for sulfonationPubChem
26Defective PAPSS2 causes SEMD-PAReactome
27Metabolism of ingested MeSeO2H into MeSeHReactome

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

Disorders associated with Peptide chain elongation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1InfluenzaDirect
2Spondyloepimetaphyseal dysplasiaDirect
3Diamond-blackfan anemia 1EnrichmentRPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS716.00
4Diamond-blackfan anemiaEnrichmentRPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS716.00
5Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND510.96
6Mitochondrial 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-ND510.73
7Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND510.73
8Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND510.73
9Camptodactyly of fingersEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND510.73
10Leigh syndrome, nuclearEnrichmentFARS2, GFM1, IARS2, 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, MTFMT10.70
11Mitochondrial myopathy, infantile, transientEnrichmentMT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND510.59
12Mitochondrial 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, OXA1L, RARS2, VARS2, YARS210.49
13Leber 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-ND610.45
14Leigh diseaseEnrichmentFARS2, GFM1, IARS2, 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, MTFMT10.37
15Mitochondrial 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-ND610.28
16Leigh syndrome, mitochondrialEnrichmentMT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND69.01
17Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.97
18Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.56
19Leukoencephalopathy with vanishing white matterEnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B58.21
20Leber optic atrophy and dystoniaEnrichmentMT-ND1, MT-ND3, MT-ND4, MT-ND5, MT-ND68.21
21HypertelorismEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND57.69
22Leber plus diseaseEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND66.61
23Intermediate maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT, PPM1K6.35
24Epilepsy, familial focal, with variable foci 1EnrichmentDEPDC5, NPRL2, NPRL35.66
25Familial thyroid dyshormonogenesisEnrichmentDUOX2, IYD, SLC5A5, TPO5.19
26AlbinismEnrichmentDCT, OCA2, TYR, TYRP15.19
27Shwachman-diamond syndrome 1EnrichmentSRP19, SRP54, SRPRA4.96
28Combined oxidative phosphorylation deficiency 1EnrichmentGFM1, MRPL44, NARS24.92
29Oculocutaneous albinismEnrichmentOCA2, SLC45A2, TYR, TYRP14.83
30Maple syrup urine disease, type iaEnrichmentBCKDHA, BCKDHB, DBT4.76
31Intermittent maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT4.76
32Classic maple syrup urine diseaseEnrichmentBCKDHA, BCKDHB, DBT4.76
33Perrault syndrome 1EnrichmentDAP3, ERAL1, HARS2, LARS2, MRPL494.66
34Cardiomyopathy, infantile histiocytoidEnrichmentMT-ATP6, MT-ATP8, MT-CYB4.33
35Chromosome 5q deletion syndromeEnrichmentEEF1D, RPS144.32
36Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B2, ATP6V1C14.32
37Autosomal recessive cutis laxa type ii classic typeEnrichmentATP6V1A, ATP6V1E14.32
38Optic nerve diseaseEnrichmentKARS1, MT-ATP6, MT-ATP8, MT-ND14.29
39Familial colorectal cancerEnrichmentMT-CO1, MT-CO2, MT-CYB, MT-ND4L4.29
40Atypical glycine encephalopathyEnrichmentAMT, GCSH, GLDC4.17
41Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB4.02
42Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB4.02
43Diamond-blackfan anemia 15 with mandibulofacial dysostosisEnrichmentRPS26, RPS283.91
44Brachyolmia type 4 with mild epiphyseal and metaphyseal changesEnrichmentPAPSS23.83
45BrachyolmiaEnrichmentPAPSS23.83
46Autosomal recessive brachyolmiaEnrichmentPAPSS23.83
47HemimegalencephalyEnrichmentMTOR, RHEB3.80
48Renal tubular acidosis, distal, 1EnrichmentATP6V1B1, ATP6V1C23.62
49Distal renal tubular acidosisEnrichmentATP6V1B1, ATP6V1C23.62
50Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR3.53
51Glycine encephalopathyEnrichmentAMT, GCSH, GLDC3.49
52Cardiomyopathy, infantile hypertrophicEnrichmentMT-ATP6, MT-ATP83.28
53Alzheimer disease mitochondrialEnrichmentMT-ND1, MT-ND23.28
54Interstitial lung and liver diseaseEnrichmentFARSB, MARS13.28
55Periodic paralysis with later-onset distal motor neuropathyEnrichmentMT-ATP6, MT-ATP83.28
56CystathioninuriaEnrichmentCTH3.18
57Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiencyEnrichmentAHCY3.18
58Intellectual developmental disorder, autosomal recessive 51EnrichmentHNMT3.18
59HyperhomocysteinemiaEnrichmentCBS3.18
60Citrullinemia, classicEnrichmentASS1, SLC25A133.17
61Dihydrolipoamide dehydrogenase deficiencyEnrichmentBCKDHB, DLD3.17
623-methylcrotonyl-coa carboxylase deficiencyEnrichmentMCCC1, MCCC23.17
63CitrullinemiaEnrichmentASS1, SLC25A133.17
64Primary hyperoxaluriaEnrichmentAGXT, GRHPR3.17
65Glycine encephalopathy 1EnrichmentAMT, GCSH, GLDC3.06
66Perrault syndrome 2EnrichmentERAL1, HARS2, LARS23.04
67TrichothiodystrophyEnrichmentAARS1, CARS1, TARS13.04
68Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentMT-CO1, MT-ND1, MT-ND42.90
69Glycine n-methyltransferase deficiencyEnrichmentGNMT2.88
70Methionine adenosyltransferase i/iii deficiencyEnrichmentMAT1A2.88
71Peroxisome biogenesis disorder 4bEnrichmentGNMT2.88
72Methionine adenosyltransferase deficiencyEnrichmentMAT1A2.88
73Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentAARS1, AARS22.81
74Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyEnrichmentVARS1, VARS22.81
75Renal cell carcinoma, nonpapillaryEnrichmentFLCN, MTOR2.79
76Autosomal recessive non-syndromic intellectual disabilityEnrichmentAIMP1, EEFSEC, HNMT, SARS12.78
77Severe congenital neutropeniaEnrichmentSRP19, SRPRA2.73
78Homocystinuria-megaloblastic anemia, cblg typeEnrichmentMTR, MTRR2.70
79Citrin deficiency, adolescent or adult onsetEnrichmentASS1, SLC25A132.70
80HomocystinuriaEnrichmentCBS, MTR2.70
81TyrosinemiaEnrichmentFAH, HPD2.70
82Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS2.70
83Brown-vialetto-van laere syndrome 2EnrichmentGNMT2.70
84Hereditary recurrent myoglobinuriaEnrichmentMT-CO1, MT-CO32.52
85Protein-deficiency anemiaEnrichmentRPL11, RPS262.51
86Congenital hypothyroidismEnrichmentDUOX2, SLC5A5, TPO2.49
87Cox deficiency, benign infantile mitochondrial myopathyEnrichmentMT-CO1, MT-CO2, MT-CO32.44
88Tyrosinemia, type iiEnrichmentFAH, TAT2.41
89Neural tube defects, folate-sensitiveEnrichmentMTR, MTRR2.41
90Congenital nad deficiency disorderEnrichmentHAAO, KYNU2.41
91Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B22.39
92Pneumothorax, primary spontaneousEnrichmentFLCN2.39
93Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR22.39
94Cutis laxa, autosomal recessive, type iidEnrichmentATP6V1A2.39
95Developmental and epileptic encephalopathy 111EnrichmentDEPDC52.39
96Birt-hogg-dube syndromeEnrichmentFLCN2.39
97Zimmermann-laband syndrome 2EnrichmentATP6V1B22.39
98Cutis laxa, autosomal recessive, type iicEnrichmentATP6V1E12.39
99Epilepsy, early-onset, 3, with or without developmental delayEnrichmentATP6V0C2.39
100Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B22.39
101Familial spontaneous pneumothoraxEnrichmentFLCN2.39
102Immunodeficiency 93 and hypertrophic cardiomyopathyEnrichmentFNIP12.39
103Kptn-related disorderEnrichmentKPTN2.39
104Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR22.39
105Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD2.39
106Pulmonary hypertension, primary, 1EnrichmentEIF2AK4, RPL52.38
107Albinism, oculocutaneous, type iiEnrichmentOCA2, TYRP12.20
108Coffin-lowry syndromeEnrichmentRPS6KA32.19
109Intellectual developmental disorder, x-linked, syndromic 35EnrichmentRPL102.19
110Asplenia, isolated congenitalEnrichmentRPSA2.19
111Diamond-blackfan anemia 10EnrichmentRPS262.19
112Hypotrichosis 12EnrichmentRPL212.19
113Diamond-blackfan anemia 13EnrichmentRPS292.19
114Diamond-blackfan anemia 7EnrichmentRPL112.19
115Diamond-blackfan anemia 18EnrichmentRPL182.19
116Spondyloepimetaphyseal dysplasia, isidor-toutain typeEnrichmentRPL132.19
117Autism x-linked 5EnrichmentRPL102.19
118Diamond-blackfan anemia 20EnrichmentRPS15A2.19
119Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.19
120Diamond-blackfan anemia 3EnrichmentRPS242.19
121Diamond-blackfan anemia 8EnrichmentRPS72.19
122Diamond-blackfan anemia 4EnrichmentRPS172.19
123Diamond-blackfan anemia 11EnrichmentRPL262.19
124Diamond-blackfan anemia 19EnrichmentRPL352.19
125Brachycephaly, trichomegaly, and developmental delayEnrichmentRPS232.19
126Cardiomyopathy, dilated, 2dEnrichmentRPL3L2.19
127Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.19
128X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeEnrichmentRPL102.19
129Pure red-cell aplasiaEnrichmentRPS262.19
130Diamond-blackfan anemia 22EnrichmentRPL172.19
131X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeEnrichmentRPL102.19
132Aquagenic palmoplantar keratodermaEnrichmentCFTR2.18
133Spermatogenic failure 63EnrichmentRPL10L2.18
134Spinocerebellar ataxia 26EnrichmentEEF22.18
135Neurodevelopmental disorder with microcephaly, ataxia, and seizuresEnrichmentSARS12.16
136Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent languageEnrichmentEEF1D2.16
137Intellectual developmental disorder, autosomal dominant 38EnrichmentEEF1A22.16
138Parkinson disease 18, autosomal dominantEnrichmentEIF4G12.15
139AsthmaEnrichmentHNMT2.14
140Deafness, nonsyndromic sensorineural, mitochondrialEnrichmentMT-CO1, MT-ND12.13
141Parkinson disease 6, autosomal recessive early-onsetEnrichmentMT-ND5, MT-ND62.13
142Mehmo syndromeEnrichmentEIF2S32.12
143Birt-hogg-dube syndrome 1EnrichmentFLCN2.09
144Renal tubular acidosis, distal, 2, with progressive sensorineural hearing lossEnrichmentATP6V1B12.09
145Epilepsy, familial focal, with variable foci 3EnrichmentNPRL32.09
146Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD2.09
147Developmental and epileptic encephalopathy 93EnrichmentATP6V1A2.09
148Intellectual developmental disorder, autosomal recessive 83EnrichmentKICS22.09
149Osteopetrosis, autosomal recessive 1EnrichmentTCIRG12.09
150Cebalid syndromeEnrichmentMTOR2.09
151Developmental and epileptic encephalopathy 18EnrichmentSZT22.09
152Renal tubular acidosisEnrichmentATP6V1B12.09
153Intellectual developmental disorder, autosomal recessive 41EnrichmentKPTN2.09
154Smith-kingsmore syndromeEnrichmentMTOR2.09
155Childhood-onset epilepsy syndromeEnrichmentATP6V0C2.09
156Long-olsen-distelmaier syndromeEnrichmentRRAGC2.09
157Autism 19EnrichmentEIF4E2.08
158Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A22.08
159Congenital disorder of glycosylation, type iyEnrichmentSSR42.08
160Bone marrow failure syndrome 1EnrichmentSRP722.08
161Tubulointerstitial kidney disease, autosomal dominant 5EnrichmentSEC61A12.08
162Congenital disorder of glycosylation, type irEnrichmentDDOST2.08
163Neutropenia, severe congenital, 11, autosomal dominantEnrichmentSEC61A12.08
164Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A32.07
165Intellectual developmental disorder, x-linked, syndromic 14EnrichmentUPF3B2.07
166Houge-janssens syndrome 2EnrichmentPPP2R1A2.07
167Heart and brain malformation syndromeEnrichmentSMG92.07
168Alzahrani-kuwahara syndromeEnrichmentSMG82.07
169Syndromic x-linked intellectual disability 14EnrichmentUPF3B2.07
170Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.07
171Leukodystrophy, hypomyelinating, 3EnrichmentAIMP12.06
172Infantile liver failure syndrome 1EnrichmentLARS12.06
173Charcot-marie-tooth disease, recessive intermediate bEnrichmentKARS12.06
174Growth retardation, impaired intellectual development, hypotonia, and hepatopathyEnrichmentIARS12.06
175Leukodystrophy, hypomyelinating, 9EnrichmentRARS12.06
176Hypomyelination with brainstem and spinal cord involvement and leg spasticityEnrichmentDARS12.06
177Charcot-marie-tooth disease, axonal, type 2uEnrichmentMARS12.06
178Leukodystrophy, hypomyelinating, 15EnrichmentEPRS12.06
179Trichothiodystrophy 9, nonphotosensitiveEnrichmentMARS12.06
180Leukoencephalopathy, progressive, infantile-onset, with or without deafnessEnrichmentKARS12.06
181Pulmonary alveolar proteinosisEnrichmentMARS12.06
182Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeEnrichmentQARS12.06
183Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B32.05
184Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B22.05
185Hyperphenylalaninemia, bh4-deficient, aEnrichmentPAH, QDPR2.03
186Albinism, ocular, type iEnrichmentTYR, TYRP12.03
187Retinitis pigmentosaEnrichmentMT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND52.01
188Mitochondrial complex i deficiency, nuclear type 1EnrichmentMT-ND1, MT-ND2, MT-ND3, MT-ND41.97
189Benign epilepsy with centrotemporal spikesEnrichmentDEPDC5, SZT21.92
190Zimmermann-laband syndrome 1EnrichmentATP6V1B21.92
191ChoreoacanthocytosisEnrichmentTCIRG11.92
192Neutropenia, severe congenital, 1, autosomal dominantEnrichmentTCIRG11.92
193DysosteosclerosisEnrichmentTCIRG11.92
194Renal tubular acidosis, distal, 3, with or without sensorineural hearing lossEnrichmentATP6V1B11.92
195Epilepsy, familial focal, with variable foci 2EnrichmentNPRL21.92
196Osteopetrosis, autosomal recessive 6EnrichmentTCIRG11.92
197Potocki-lupski syndromeEnrichmentFLCN1.92
198Chromophobe renal cell carcinomaEnrichmentFLCN1.92
199Epilepsy with auditory featuresEnrichmentDEPDC51.92
200Diamond-blackfan anemia 6EnrichmentRPL51.89
201Diamond-blackfan anemia 9EnrichmentRPS101.89
202Diamond-blackfan anemia 5EnrichmentRPL35A1.89
203Diamond-blackfan anemia 12EnrichmentRPL151.89
204Diamond-blackfan anemia 16EnrichmentRPL271.89
205Diamond-blackfan anemia 17EnrichmentRPS271.89
206Familial isolated congenital aspleniaEnrichmentRPSA1.89
207LeukodystrophyEnrichmentKARS1, RARS11.88
208Spermatogenic failure, y-linked, 2EnrichmentCFTR1.88
209Centralopathic epilepsyEnrichmentDEPDC5, SZT21.88
210Mitochondrial complex iv deficiency, nuclear type 1EnrichmentMT-CO1, MT-CO2, MT-CO31.88
211Perrault syndromeEnrichmentHARS2, LARS21.87
212Isolated atp synthase deficiencyEnrichmentMT-ATP6, MT-ATP81.87
213Thyroid hormone metabolism, abnormal, 1EnrichmentSECISBP21.86
214Developmental and epileptic encephalopathy 33EnrichmentEEF1A21.86
215Spastic paraplegia 46, autosomal recessiveEnrichmentEEF1A21.86
216Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK41.82
217Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK41.82
218Pulmonary venoocclusive disease 1EnrichmentEIF2AK41.82
219Pulmonary venoocclusive disease 2EnrichmentEIF2AK41.82
220Pulmonary venoocclusive diseaseEnrichmentEIF2AK41.82
221Intellectual developmental disorder, autosomal recessive 67EnrichmentEIF3F1.82
222Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentDEPDC51.79
223Pilocytic astrocytomaEnrichmentFLCN1.79
224Newborn respiratory distress syndromeEnrichmentNPRL21.79
225Autosomal recessive osteopetrosisEnrichmentTCIRG11.79
226Neutropenia, severe congenital, 8, autosomal dominantEnrichmentSRP541.78
227Neutropenia, severe congenital, 10, autosomal recessiveEnrichmentSRP681.78
228Immunodeficiency, common variable, 15EnrichmentSEC61A11.78
229Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN11.78
230Houge-janssens syndrome 3EnrichmentPPP2CA1.77
231Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesEnrichmentSMG91.77
232Intellectual developmental disorder, autosomal dominant 43EnrichmentQARS11.76
233Deafness, congenital, and adult-onset progressive leukoencephalopathyEnrichmentKARS11.76
234Spastic paraplegia 70, autosomal recessiveEnrichmentMARS11.76
235Deafness, autosomal recessive 89EnrichmentKARS11.76
236Leukodystrophy, hypomyelinating, 17EnrichmentAIMP21.76
237Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B41.75
238Optic atrophy plus syndromeEnrichmentMT-ND1, MT-ND4, MT-ND6, MTRFR1.75
239Macrocytic anemiaEnrichmentRPL171.71
240Nuchal bleb, familialEnrichmentCFTR1.71
241OsteopetrosisEnrichmentTCIRG11.70
242Autosomal dominant severe congenital neutropeniaEnrichmentTCIRG11.70
243Microcephaly, postnatal progressive, with seizures and brain atrophyEnrichmentEEFSEC1.69
244Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentEEFSEC1.69
245KyphosisEnrichmentSEPSECS1.69
246Mitochondrial encephalomyopathyEnrichmentFARS2, MT-CYB1.68
247Tetralogy of fallotEnrichmentMT-CO1, MT-CO2, MT-CO31.68
248Connective tissue diseaseEnrichmentCBS1.68
249Right atrial isomerismEnrichmentUPF11.68
250Congenital heart defects, multiple types, 6EnrichmentUPF11.68
251Undetermined early-onset epileptic encephalopathyEnrichmentATP6V1A, SZT21.67
252Asparagine synthetase deficiencyEnrichmentASNS1.65
253Myxoid liposarcomaEnrichmentDDIT31.65
254Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentASNS1.65
255Spinocerebellar ataxia, autosomal recessive 29EnrichmentASNS1.65
256Ataxia and polyneuropathy, adult-onsetEnrichmentMT-ATP61.64
257Pontocerebellar hypoplasia, type 6EnrichmentRARS21.64
258Mitochondrial complex i deficiency, mitochondrial type 1EnrichmentMT-ND31.64
259Myoglobinuria, recurrentEnrichmentMT-CO11.64
260Myopathy, lactic acidosis, and sideroblastic anemia 3EnrichmentMT-ATP61.64
261Combined oxidative phosphorylation deficiency 2EnrichmentMRPS161.64
262Combined oxidative phosphorylation deficiency 4EnrichmentTUFM1.64
263Rajab interstitial lung disease with brain calcifications 1EnrichmentFARSB1.64
264Charcot-marie-tooth disease, dominant intermediate cEnrichmentYARS11.64
265Developmental and epileptic encephalopathy 29EnrichmentAARS11.64
266Combined oxidative phosphorylation deficiency 21EnrichmentTARS21.64
267Developmental and epileptic encephalopathy 75EnrichmentPARS21.64
268Parkinsonism-dystonia 3, childhood-onsetEnrichmentWARS21.64
269Combined oxidative phosphorylation deficiency 34EnrichmentMRPS71.64
270Charcot-marie-tooth disease, axonal, type 2dEnrichmentGARS11.64
271Combined oxidative phosphorylation deficiency 12EnrichmentEARS21.64
272OncocytomaEnrichmentMT-ND61.64
273Sudden cardiac failure, infantileEnrichmentPPA21.64
274Combined oxidative phosphorylation deficiency 51EnrichmentPTCD31.64
275Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalitiesEnrichmentNARS11.64
276Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevationEnrichmentDARS21.64
277Combined oxidative phosphorylation deficiency 3EnrichmentTSFM1.64
278Combined oxidative phosphorylation deficiency 27EnrichmentCARS21.64
279Charcot-marie-tooth disease, axonal, type 2nEnrichmentAARS11.64
280Combined oxidative phosphorylation deficiency 16EnrichmentMRPL441.64
281Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaEnrichmentIARS21.64
282Combined oxidative phosphorylation deficiency 25EnrichmentMARS21.64
283Combined oxidative phosphorylation deficiency 8EnrichmentAARS21.64
284Combined oxidative phosphorylation deficiency 5EnrichmentMRPS221.64
285Spastic paraplegia 55, autosomal recessiveEnrichmentMTRFR1.64
286Trichothiodystrophy 8, nonphotosensitiveEnrichmentAARS11.64
287Myopathy, lactic acidosis, and sideroblastic anemia 2EnrichmentYARS21.64
288Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndromeEnrichmentSARS21.64
289Combined oxidative phosphorylation deficiency 7EnrichmentMTRFR1.64
290Combined oxidative phosphorylation deficiency 15EnrichmentMTFMT1.64
291Combined oxidative phosphorylation deficiency 46EnrichmentMRPS231.64
292Mitochondrial complex i deficiency, nuclear type 27EnrichmentMTFMT1.64
293Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalitiesEnrichmentNARS11.64
294Combined oxidative phosphorylation deficiency 39EnrichmentGFM21.64
295Combined oxidative phosphorylation deficiency 38EnrichmentMRPS141.64
296Spinal muscular atrophy, infantile, james typeEnrichmentGARS11.64
297Sudden cardiac failure, alcohol-inducedEnrichmentPPA21.64
298Neuronopathy, distal hereditary motor, autosomal dominant 9EnrichmentWARS11.64
299Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalitiesEnrichmentWARS11.64
300Leukoencephalopathy, hereditary diffuse, with spheroids 2EnrichmentAARS11.64
301Ovarian dysgenesis 7EnrichmentMRPS221.64
302Deafness, autosomal recessive 94EnrichmentNARS21.64
303Trichothiodystrophy 7, nonphotosensitiveEnrichmentTARS11.64
304Combined oxidative phosphorylation deficiency 45EnrichmentMRPL121.64
305Rajab interstitial lung disease with brain calcifications 2EnrichmentFARSA1.64
306Combined oxidative phosphorylation deficiency 50EnrichmentMRPS251.64
307Aars2-related disorderEnrichmentAARS21.64
308Optic atrophy 14EnrichmentMIEF11.64
309Charcot-marie-tooth disease type 2dEnrichmentGARS11.64
310Combined oxidative phosphorylation deficiency 59EnrichmentMRPL391.64
311Perrault syndrome 7EnrichmentDAP31.64
312Brain calcification, rajab typeEnrichmentFARSB1.64
313GoutEnrichmentDARS21.64
314Autosomal dominant spastic ataxiaEnrichmentMT-CO31.64
315Combined oxidative phosphorylation deficiency 60EnrichmentMRPL491.64
316Liver cirrhosisEnrichmentFARSB1.64
317Maternally-inherited spastic paraplegiaEnrichmentMT-ATP61.64
318Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeEnrichmentDARS21.64
319Sensorineural hearing lossEnrichmentHARS2, KARS1, MRPS7, NARS21.62
320Autosomal recessive distal renal tubular acidosisEnrichmentATP6V1B11.62
321Intellectual developmental disorder, x-linked, syndromic, lujan-fryns typeEnrichmentUPF3B1.59
322Thrombocytopenia-absent radius syndromeEnrichmentRBM8A1.59
323Hyperlysinemia, type iEnrichmentAASS1.59
324Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeEnrichmentSLC25A151.59
325Neu-laxova syndrome 1EnrichmentPHGDH1.59
326Beta-aminoisobutyric aciduriaEnrichmentAGXT21.59
327Oxoglutarate dehydrogenase deficiencyEnrichmentOGDH1.59
328Argininosuccinic aciduriaEnrichmentASL1.59
329Hsd10 mitochondrial diseaseEnrichmentHSD17B101.59
330Thyroid dyshormonogenesis 4EnrichmentIYD1.59
331Urocanase deficiencyEnrichmentUROC11.59
332Epilepsy, early-onset, 4, vitamin b6-dependentEnrichmentALDH7A11.59
333Spastic paraplegia 9a, autosomal dominantEnrichmentALDH18A11.59
334Thyroid dyshormonogenesis 1EnrichmentSLC5A51.59
335Phosphoglycerate dehydrogenase deficiencyEnrichmentPHGDH1.59
336T-substance anomalyEnrichmentFAH1.59
337Hyperoxaluria, primary, type iiEnrichmentGRHPR1.59
338Albinism, oculocutaneous, type ivEnrichmentSLC45A21.59
339Albinism, oculocutaneous, type ibEnrichmentTYR1.59
340Isobutyryl-coa dehydrogenase deficiencyEnrichmentACAD81.59
341Developmental and epileptic encephalopathy 39 with leukodystrophyEnrichmentSLC25A121.59
3422-methylbutyryl-coa dehydrogenase deficiencyEnrichmentACADSB1.59
343HydroxykynureninuriaEnrichmentKYNU1.59
344Isovaleric acidemiaEnrichmentIVD1.59
345Alpha-aminoadipic and alpha-ketoadipic aciduriaEnrichmentDHTKD11.59
3463-hydroxyisobutyryl-coa hydrolase deficiencyEnrichmentHIBCH1.59
347Cutis laxa, autosomal recessive, type iiiaEnrichmentALDH18A11.59
348Thyroid dyshormonogenesis 6EnrichmentDUOX21.59
349HistidinemiaEnrichmentHAL1.59
350PhosphohydroxylysinuriaEnrichmentPHYKPL1.59
351Skin/hair/eye pigmentation, variation in, 5EnrichmentSLC45A21.59
352Cutis laxa, autosomal recessive, type iiibEnrichmentPYCR11.59
3533-methylcrotonyl-coa carboxylase 2 deficiencyEnrichmentMCCC21.59
354AlkaptonuriaEnrichmentHGD1.59
355Skin/hair/eye pigmentation, variation in, 3EnrichmentTYR1.59
356Sulfite oxidase deficiency, isolatedEnrichmentSUOX1.59
357Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.59
358Leukodystrophy, hypomyelinating, 10EnrichmentPYCR21.59
359Spastic paraplegia 9b, autosomal recessiveEnrichmentALDH18A11.59
360Combined oxidative phosphorylation deficiency 29EnrichmentTXN21.59
361Vertebral, cardiac, renal, and limb defects syndrome 2EnrichmentKYNU1.59
362Maple syrup urine disease, type iiEnrichmentDBT1.59
363Hyperoxaluria, primary, type iEnrichmentAGXT1.59
364Casgid syndromeEnrichmentGLS1.59
365Hypervalinemia and hyperleucine-isoleucinemiaEnrichmentBCAT21.59
366Bachmann-bupp syndromeEnrichmentODC11.59
367Cerebral creatine deficiency syndrome 1EnrichmentSLC6A81.59
368Hypothyroidism, congenital, nongoitrous, 4EnrichmentTSHB1.59
369Stankiewicz-isidor syndromeEnrichmentPSMD121.59
370Dimethylglycine dehydrogenase deficiencyEnrichmentDMGDH1.59
371Ornithine transcarbamylase deficiency, hyperammonemia due toEnrichmentOTC1.59
372SaccharopinuriaEnrichmentAASS1.59
373SarcosinemiaEnrichmentSARDH1.59
374Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST1.59
375Phosphoserine aminotransferase deficiencyEnrichmentPSAT11.59
376Intellectual developmental disorder, x-linked, syndromic, snyder-robinson typeEnrichmentSMS1.59
377HypertryptophanemiaEnrichmentTDO21.59
378Syndromic x-linked intellectual disability type 10EnrichmentHSD17B101.59
379Sulfide:quinone oxidoreductase deficiencyEnrichmentSQOR1.59
380Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.59
381Cutis laxa, autosomal dominant 3EnrichmentALDH18A11.59
382Hyperinsulinemic hypoglycemia, familial, 6EnrichmentGLUD11.59
383Developmental and epileptic encephalopathy 71EnrichmentGLS1.59
384Aspartate aminotransferase, serum level of, quantitative trait locus 1EnrichmentGOT11.59
385Mitochondrial dna depletion syndrome 19EnrichmentSLC25A101.59
386Branched-chain keto acid dehydrogenase kinase deficiencyEnrichmentBCKDK1.59
387Maple syrup urine disease, mild variantEnrichmentPPM1K1.59
388Deafness, autosomal dominant 40EnrichmentCRYM1.59
389Charcot-marie-tooth disease, axonal, type 2qEnrichmentDHTKD11.59
390Phosphoserine phosphatase deficiencyEnrichmentPSPH1.59
391Pulmonary hypertension, neonatalEnrichmentCPS11.59
392Autosomal recessive cutis laxa type iiiEnrichmentALDH18A11.59
393Cutis laxa, autosomal recessive, type iibEnrichmentPYCR11.59
394Hyperoxaluria, primary, type iiiEnrichmentHOGA11.59
395N-acetylaspartate deficiencyEnrichmentNAT8L1.59
396Syndromic x-linked intellectual disability snyder typeEnrichmentSMS1.59
397Thyroid hormone metabolism, abnormal, 2EnrichmentDIO11.59
398Maleylacetoacetate isomerase deficiencyEnrichmentGSTZ11.59
399Choroid diseaseEnrichmentOAT1.59
400Developmental and epileptic encephalopathy 116EnrichmentGLUL1.59
401Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineEnrichmentSLC44A11.59
402Mitochondrial dna depletion syndrome 18EnrichmentSLC25A211.59
403Developmental and epileptic encephalopathy 39EnrichmentSLC25A121.59
404Skin melanomaEnrichmentSLC45A21.59
405Maple syrup urine disease, type ibEnrichmentBCKDHB1.59
406Neu-laxova syndrome 2EnrichmentPSAT11.59
407Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS1.59
408Minimal pigment oculocutaneous albinism type 1EnrichmentTYR1.59
409Disorder of ornithine metabolismEnrichmentOTC1.59
410Homocystinuria without methylmalonic aciduriaEnrichmentMTRR1.59
411HyperlysinemiaEnrichmentAASS1.59
412Neurometabolic disorder due to serine deficiencyEnrichmentPSAT11.59
413Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuriaEnrichmentPAH1.59
414Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiencyEnrichmentPSPH1.59
415Pycr2-related microcephaly-progressive leukoencephalopathyEnrichmentPYCR21.59
416Hypopigmentation of the skinEnrichmentTYR1.59
417Autosomal dominant complex spastic paraplegia type 9bEnrichmentALDH18A11.59
418Citrullinemia type iiEnrichmentSLC25A131.59
419Idiopathic bronchiectasisEnrichmentCFTR1.59
420Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentQARS11.58
421NephrocalcinosisEnrichmentAGXT, GRHPR1.58
422NephrolithiasisEnrichmentAGXT, GRHPR1.58
423Transposition of the great arteriesEnrichmentUPF11.55
424Renal cell carcinoma, papillary, 1EnrichmentMTOR1.55
425Autosomal dominant sleep-related hypermotor epilepsyEnrichmentDEPDC51.55
426Overgrowth syndromeEnrichmentMTOR1.55
427Hereditary clear cell renal cell carcinomaEnrichmentFLCN1.55
428Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCBS1.54
429HemangiomaEnrichmentRPL51.49
430Pontocerebellar hypoplasia, type 2dEnrichmentSEPSECS1.47
431Spastic diplegiaEnrichmentSEPSECS1.47
432Aortic valve disease 1EnrichmentMT-ATP6, MT-ATP81.46
433Premature menopauseEnrichmentEIF2B2, MRPS71.46
434Peripheral nervous system diseaseEnrichmentAARS1, HARS1, IARS21.44
435NeuropathyEnrichmentAARS1, HARS1, IARS21.44
436Lactic acidosisEnrichmentDLD, KARS11.43
437PancytopeniaEnrichmentRPL171.42
438Autosomal recessive intellectual developmental disorderEnrichmentEEFSEC1.39
439Ciliary dyskinesia, primary, 40EnrichmentSRP541.39
440Liver failure, infantile, transientEnrichmentLARS11.37
441Charcot-marie-tooth disease, demyelinating, type 1aEnrichmentMT-ATP61.34
442Deafness, sensorineural, autosomal-mitochondrial typeEnrichmentMT-ND11.34
443Wilms tumor 2EnrichmentMRPL231.34
444Grange syndromeEnrichmentDAP31.34
445Spastic ataxia 3, autosomal recessiveEnrichmentMARS21.34
446Combined oxidative phosphorylation deficiency 14EnrichmentFARS21.34
447Usher syndrome, type iiibEnrichmentHARS11.34
448Hydrops, lactic acidosis, and sideroblastic anemiaEnrichmentLARS21.34
449Charcot-marie-tooth disease, axonal, type 2wEnrichmentHARS11.34
450Leukoencephalopathy, progressive, with ovarian failureEnrichmentAARS21.34
451Spastic paraplegia 77, autosomal recessiveEnrichmentFARS21.34
452Combined oxidative phosphorylation deficiency 20EnrichmentVARS21.34
453Waardenburg syndrome, type 2fEnrichmentMTFMT1.34
454Combined oxidative phosphorylation deficiency 36EnrichmentMRPS21.34
455Combined oxidative phosphorylation deficiency 47EnrichmentMRPS281.34
456Perrault syndrome 6EnrichmentERAL11.34
457Spastic ataxia 3EnrichmentMARS21.34
458Combined oxidative phosphorylation deficiency 9EnrichmentMRPL31.34
459Charcot-marie-tooth disease type 1aEnrichmentMT-ATP61.34
460Perrault syndrome 4EnrichmentLARS21.34
461Autosomal dominant charcot-marie-tooth disease type 2wEnrichmentHARS11.34
462Pontocerebellar hypoplasia, type 2eEnrichmentSEPSECS1.32
463Cutis laxaEnrichmentATP6V1E11.32
464Gastroesophageal refluxEnrichmentRPS6KA31.29
465Orthostatic intoleranceEnrichmentRPS6KA31.29
466Fanconi renotubular syndrome 1EnrichmentGATM1.29
467Gilles de la tourette syndromeEnrichmentHDC1.29
468Major affective disorder 1EnrichmentTPH21.29
469Albinism, oculocutaneous, type iiiEnrichmentTYRP11.29
470Hyperprolinemia, type iEnrichmentPRODH1.29
471Alpha-methylacetoacetic aciduriaEnrichmentACAT11.29
472Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentCPS11.29
473Hyperprolinemia, type iiEnrichmentALDH4A11.29
474ArgininemiaEnrichmentARG11.29
4753-methylcrotonyl-coa carboxylase 1 deficiencyEnrichmentMCCC11.29
476Glutamate formiminotransferase deficiencyEnrichmentFTCD1.29
477Hyperphenylalaninemia, bh4-deficient, cEnrichmentQDPR1.29
478N-acetylglutamate synthase deficiencyEnrichmentNAGS1.29
479Canavan diseaseEnrichmentASPA1.29
480Striatonigral degeneration, infantileEnrichmentIL4I11.29
481Skin/hair/eye pigmentation, variation in, 1EnrichmentOCA21.29
482Hyperphenylalaninemia, bh4-deficient, dEnrichmentPCBD11.29
483Schizophrenia 4EnrichmentPRODH1.29
484Autism x-linked 6EnrichmentTMLHE1.29
485Encephalopathy, ethylmalonicEnrichmentETHE11.29
486Tyrosinemia, type iEnrichmentFAH1.29
487Tyrosinemia, type iiiEnrichmentHPD1.29
488Citrin deficiency, neonatal or infantile onsetEnrichmentSLC25A131.29
489Cerebral creatine deficiency syndrome 2EnrichmentGAMT1.29
490Glutamine deficiency, congenitalEnrichmentGLUL1.29
491Segawa syndrome, autosomal recessiveEnrichmentTH1.29
492HawkinsinuriaEnrichmentHPD1.29
493Diaphyseal medullary stenosis with malignant fibrous histiocytomaEnrichmentMTAP1.29
494Orthostatic hypotension 1EnrichmentDBH1.29
495Homocystinuria-megaloblastic anemia, cble typeEnrichmentMTRR1.29
496Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD1.29
497Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalitiesEnrichmentPAH1.29
498Aromatic l-amino acid decarboxylase deficiencyEnrichmentDDC1.29
499Albinism, oculocutaneous, type iaEnrichmentTYR1.29
500Methylmalonate semialdehyde dehydrogenase deficiencyEnrichmentALDH6A11.29
501Mitochondrial short-chain enoyl-coa hydratase 1 deficiencyEnrichmentECHS11.29
502Skin/hair/eye pigmentation, variation in, 11EnrichmentTYRP11.29
503Bainbridge-ropers syndromeEnrichmentGADL11.29
504Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS1.29
505Oculocutaneous albinism, type viiiEnrichmentDCT1.29
506Developmental and epileptic encephalopathy 82EnrichmentGOT21.29
507Developmental and epileptic encephalopathy 87EnrichmentAMD11.29
508Spastic paraplegia 5a, autosomal recessiveEnrichmentALDH18A11.29
509Spastic paraplegia 73, autosomal dominantEnrichmentGPT21.29
510Multiple mitochondrial dysfunctions syndrome 7EnrichmentGCSH1.29
511Birk-aharoni syndromeEnrichmentPSMC11.29
512Glycine encephalopathy 2EnrichmentAMT1.29
513Thyroid dyshormonogenesis 2aEnrichmentTPO1.29
514Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.29
515Vertebral, cardiac, renal, and limb defects syndrome 1EnrichmentHAAO1.29
516Cerebral creatine deficiency syndromeEnrichmentGAMT1.29
517Melanoma, cutaneous malignant 8EnrichmentTYR1.29
518Developmental and epileptic encephalopathy 16EnrichmentGLUL1.29
519Catel-manzke syndromeEnrichmentKYNU1.29
520Neurodevelopmental disorder with spastic paraplegia and microcephalyEnrichmentGPT21.29
521Dopamine beta-hydroxylase deficiencyEnrichmentDBH1.29
522Cerebral creatine deficiency syndrome 3EnrichmentGATM1.29
523HypophosphatasiaEnrichmentOCA21.29
52417q24.2 microdeletion syndromeEnrichmentPSMD121.29
525Disorders of intracellular cobalamin metabolismEnrichmentMTR1.29
526Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL1.29
527Creatine deficiency disordersEnrichmentGAMT1.29
528Angelman syndrome due to maternal 15q11q13 deletionEnrichmentOCA21.29
529Pyridoxine-dependent-developmental and epileptic encephalopathyEnrichmentALDH7A11.29
530Diaphyseal medullary stenosis-bone malignancy syndromeEnrichmentMTAP1.29
531Ventricular septal defectEnrichmentRPS6KA31.24
532Hypotrichosis simplexEnrichmentRPL211.24
533Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR1.24
534Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.24
535Polydactyly, postaxial, type a1EnrichmentATP6V1B11.23
536Rare genetic intellectual disabilityEnrichmentMTOR1.23
537Leukemia, chronic lymphocyticEnrichmentRPS151.20
538Aplastic anemiaEnrichmentRPL51.20
539Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentEIF3F1.18
540Sudden infant death syndromeEnrichmentDEPDC51.18
541Charcot-marie-tooth diseaseEnrichmentAARS1, GARS1, MT-ATP61.17
542Keratoderma, palmoplantar, with deafnessEnrichmentMT-CO11.17
543Visceral steatosis, congenitalEnrichmentYARS11.17
544Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathyEnrichmentMT-ND31.17
545Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMTRFR1.17
546Microcephaly, developmental delay, and brittle hair syndromeEnrichmentCARS11.17
547Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2EnrichmentYARS11.17
548Mitochondrial complex v deficiency, nuclear type 5EnrichmentMT-ND51.17
549Mitochondrial complex i deficiency, nuclear type 35EnrichmentNARS11.17
550Gonadal dysgenesisEnrichmentMT-ATP61.17
551Combined oxidative phosphorylation deficiencyEnrichmentGFM11.17
552Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresEnrichmentWARS21.17
553Steatotic liver diseaseEnrichmentYARS11.17
554Myelodysplastic syndrome with ring sideroblastsEnrichmentMT-CO11.17
555Dend syndromeEnrichmentNARS21.17
556Atrial heart septal defectEnrichmentRPL51.16
557Interatrial communicationEnrichmentRPL51.16
558Familial colorectal cancer type xEnrichmentRPS201.16
559Specific learning disabilityEnrichmentRPS6KA31.16
560Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentAARS1, GARS11.16
561EpicanthusEnrichmentRPL171.12
562Dystonia, dopa-responsiveEnrichmentTH1.12
563Mannosidosis, beta a, lysosomalEnrichmentFAH1.12
564Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.12
5653-methylglutaconic aciduria, type iEnrichmentAUH1.12
566Hypophosphatasia, infantileEnrichmentOCA21.12
567Geroderma osteodysplasticumEnrichmentPYCR11.12
568Pituitary hormone deficiency, combined, 2EnrichmentPAH1.12
569Spinal muscular atrophy, type ivEnrichmentMCCC21.12
570Leukodystrophy, hypomyelinating, 2EnrichmentGCDH1.12
571Developmental and epileptic encephalopathy 13EnrichmentALDH7A11.12
572Gyrate atrophy of choroid and retinaEnrichmentOAT1.12
573Fanconi syndromeEnrichmentGATM1.12
574Keratosis follicularis spinulosa decalvansEnrichmentSAT11.12
575Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.12
576Autosomal dominant cutis laxaEnrichmentALDH18A11.12
5773-methylglutaconic aciduriaEnrichmentAUH1.12
578Thyroid hemiagenesisEnrichmentPSMD31.12
579Hyperphenylalaninemia due to tetrahydrobiopterin deficiencyEnrichmentQDPR1.12
580Heritable pulmonary arterial hypertensionEnrichmentEIF2AK41.10
581Hereditary chronic pancreatitisEnrichmentCFTR1.06
582Myopathy, lactic acidosis, and sideroblastic anemia 1EnrichmentYARS21.05
583Combined oxidative phosphorylation deficiency 32EnrichmentMRPS341.05
584Combined oxidative phosphorylation deficiency 24EnrichmentNARS21.05
585Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentYARS11.05
586Familial infantile bilateral striatal necrosisEnrichmentMT-ATP61.05
587Oculomotor apraxiaEnrichmentHARS11.05
588AutismEnrichmentGSPT2, RPL171.05
589Attention deficit-hyperactivity disorderEnrichmentMT-ND1, RPL171.05
590MicrocephalyEnrichmentIARS1, KARS1, QARS11.03
591Lynch syndromeEnrichmentCFTR1.03
592Glycogen storage disease iaEnrichmentASS11.00
593PhenylketonuriaEnrichmentPAH1.00
594Down syndromeEnrichmentMTRR1.00
595Propionic acidemiaEnrichmentPAH1.00
596Anemia, congenital dyserythropoietic, type ivaEnrichmentGCDH1.00
597Schaaf-yang syndromeEnrichmentOCA21.00
598Fetal hemoglobin quantitative trait locus 6EnrichmentGCDH1.00
599Ciliary dyskinesia, primary, 29EnrichmentGCDH1.00
600Generalized epilepsyEnrichmentGLDC1.00
601Pediatric systemic lupus erythematosusEnrichmentSAT11.00
602Primary fanconi renotubular syndromeEnrichmentGATM1.00
603RasopathyEnrichmentATP6V1E11.00
604Parkinson disease, late-onsetEnrichmentEIF4G1, MT-ND10.98
605Pancreatitis, hereditaryEnrichmentCFTR0.97
606Kearns-sayre syndromeEnrichmentMT-ATP80.96
607Neuronopathy, distal hereditary motor, autosomal dominant 5EnrichmentGARS10.96
608Mitochondrial oxidative phosphorylation disorderEnrichmentMTFMT0.96
609Pontocerebellar hypoplasiaEnrichmentSEPSECS0.93
610Smith-magenis syndromeEnrichmentSMS0.91
611Glutaric acidemia iEnrichmentGCDH0.91
612Major depressive disorderEnrichmentTPH20.91
613Arteriovenous malformations of the brainEnrichmentSARS10.91
614Inflammatory myofibroblastic tumorEnrichmentCARS10.89
615Congenital disorder of glycosylation, type inEnrichmentSSR30.88
616Polycystic liver diseaseEnrichmentSEC61A10.88
617Autosomal dominant polycystic liver diseaseEnrichmentSEC61A10.88
618Developmental dysplasia of the hip 1EnrichmentPSMC30.84
619Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGLUD10.84
620Pain disorderEnrichmentOAT0.84
621Patent ductus arteriosusEnrichmentPSMC30.84
622Nonsyndromic genetic hyperinsulinismEnrichmentGLUD10.84
623Usher syndrome, type iiiaEnrichmentHARS10.82
624ParkinsonismEnrichmentMT-ND60.82
625Retinal degenerationEnrichmentYARS10.82
626EpilepsyEnrichmentDEPDC50.82
627Williams-beuren syndromeEnrichmentEIF4H0.82
628Primary autosomal recessive microcephalyEnrichmentSARS1, WARS10.78
629Prader-willi syndromeEnrichmentOCA20.77
630Waardenburg syndrome, type 2eEnrichmentTYR0.77
631Moyamoya angiopathyEnrichmentAGMAT0.77
632StrabismusEnrichmentUPF10.76
633Brittle bone disorderEnrichmentEIF2B20.73
634Isolated split hand-split foot malformationEnrichmentSEM10.72
635Cystic fibrosisEnrichmentCFTR0.72
636DystoniaEnrichmentMT-ND1, MT-ND60.72
637Differentiated thyroid carcinomaEnrichmentEIF1AX0.71
638Non-syndromic genetic deafnessEnrichmentKARS1, LARS20.70
639Male infertilityEnrichmentCFTR0.70
640Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.68
641Migraine with or without aura 1EnrichmentMT-ND10.65
642Mitochondrial myopathyEnrichmentLARS20.65
643Isolated complex iii deficiencyEnrichmentMT-CYB0.65
644Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentASL0.64
645PolymicrogyriaEnrichmentPSMC30.64
646Myoclonic epilepsy associated with ragged-red fibersEnrichmentMT-ND50.61
647Restrictive cardiomyopathyEnrichmentMT-ND10.61
64846 xx gonadal dysgenesisEnrichmentMRPS220.61
649Nonsyndromic hearing lossEnrichmentKARS1, LARS20.60
650Distal arthrogryposisEnrichmentSEPSECS0.60
651Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentDARS20.58
652Alzheimer's diseaseEnrichmentMT-ND10.58
653ClubfootEnrichmentDARS20.58
654Rare genetic deafnessEnrichmentATP6V1B10.56
655CataractEnrichmentIARS20.56
656Complex neurodevelopmental disorderEnrichmentPPP2CA, UPF10.54
657Pulmonary disease, chronic obstructiveEnrichmentHYKK0.54
658Familial isolated dilated cardiomyopathyEnrichmentRPL3L0.53
659Autosomal dominant non-syndromic intellectual disabilityEnrichmentEEF1A20.53
660Congenital nervous system abnormalityEnrichmentALDH18A1, ALDH7A1, ETHE1, GAMT0.53
661Nervous system diseaseEnrichmentALDH18A1, ALDH7A1, ETHE1, GAMT0.53
662Colorectal cancerEnrichmentFLCN0.52
663Spastic ataxiaEnrichmentSEPSECS0.51
664Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.51
665Hydrocephalus, congenital, 1EnrichmentMT-ND10.51
666HypertensionEnrichmentDARS20.51
667Alzheimer disease, familial, 1EnrichmentMT-ND10.49
668MyopiaEnrichmentTYR0.49
669Ovarian cancerEnrichmentFLCN0.47
670Beckwith-wiedemann syndromeEnrichmentMRPL230.47
671Myeloma, multipleEnrichmentEIF1AX0.46
672Parkinson's diseaseEnrichmentMT-ND10.45
673Patent foramen ovaleEnrichmentPSMC30.42
674Hereditary breast ovarian cancer syndromeEnrichmentEIF2B50.41
675Esophageal atresia/tracheoesophageal fistulaEnrichmentGLS0.41
676Primary ovarian insufficiencyEnrichmentEIF2B2, MRPS70.41
677Inherited cancer-predisposing syndromeEnrichmentFLCN0.38
678Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST0.37
679Deafness, autosomal recessiveEnrichmentKARS10.37
680ScoliosisEnrichmentHARS10.37
681Autosomal recessive nonsyndromic deafnessEnrichmentKARS10.36
682Myocardial infarctionEnrichmentPSMA60.36
683Skin diseaseEnrichmentTYR0.36
684Auditory neuropathyEnrichmentMT-ND60.34
685Developmental and epileptic encephalopathy 1EnrichmentSLC25A120.32
686Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentKARS10.26
687Fetal akinesia deformation sequence 1EnrichmentEARS20.24
688Eye diseaseEnrichmentTYR0.22
689Developmental and epileptic encephalopathyEnrichmentGOT20.21
690Hereditary breast carcinomaEnrichmentMT-CYB0.19
691Hereditary spastic paraplegiaEnrichmentALDH18A10.17
692Nephrotic syndromeEnrichmentAGXT0.17
693West syndromeEnrichmentSLC25A120.16
694Body mass index quantitative trait locus 11EnrichmentMT-CYB0.16
695Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCRYM0.13
696Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDAO0.11
697SchizophreniaEnrichmentTMLHE0.10
698Breast cancerEnrichmentMT-CYB0.08
699Dilated cardiomyopathyEnrichmentTSFM0.07
700Autism spectrum disorderEnrichmentMCCC20.03
701Hereditary retinal dystrophyEnrichmentMT-ND4, MT-ND60.00
702Fundus dystrophyEnrichmentMT-ND4, MT-ND60.00

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