Amino acid metabolism

No Pathway Network information available for Amino acid metabolism

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

Disorders associated with Amino acid metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST, FH, MDH2, SDHA4.98
2Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA1, PDHX3.58
3Tyrosinemia, type iiEnrichmentFAH, TAT3.58
4HistidinemiaEnrichmentHAL3.53
5Hyperinsulinemic hypoglycemia, familial, 6EnrichmentGLUD13.53
6Glutamate formiminotransferase deficiencyEnrichmentFTCD3.23
7Spastic paraplegia 73, autosomal dominantEnrichmentGPT23.23
8Neurodevelopmental disorder with spastic paraplegia and microcephalyEnrichmentGPT23.23
9Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGLUD1, HADH3.18
10Nonsyndromic genetic hyperinsulinismEnrichmentGLUD1, HADH3.18
11Rare genetic intellectual disabilityEnrichmentGPT22.35
12Hereditary leiomyomatosis and renal cell cancerEnrichmentFH2.17
13CystathioninuriaEnrichmentCTH2.17
143-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHADH2.17
15Mitochondrial dna depletion syndrome 9EnrichmentSUCLG12.17
16Oxoglutarate dehydrogenase deficiencyEnrichmentOGDH2.17
17Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK12.17
18Epilepsy, early-onset, 4, vitamin b6-dependentEnrichmentALDH7A12.17
19Glutathione synthetase deficiencyEnrichmentGSS2.17
20Spastic paraplegia 9a, autosomal dominantEnrichmentALDH18A12.17
21T-substance anomalyEnrichmentFAH2.17
22Fumarase deficiencyEnrichmentFH2.17
23Rajab interstitial lung disease with brain calcifications 1EnrichmentFARSB2.17
24Anemia, congenital, nonspherocytic hemolytic, 6EnrichmentGSS2.17
253-hydroxyisobutyryl-coa hydrolase deficiencyEnrichmentHIBCH2.17
26Cutis laxa, autosomal recessive, type iiiaEnrichmentALDH18A12.17
273-hydroxy-3-methylglutaryl-coa lyase deficiencyEnrichmentHMGCL2.17
28Myopia 25, autosomal dominantEnrichmentP4HA22.17
29Pheochromocytoma/paraganglioma syndrome 5EnrichmentSDHA2.17
30Cutis laxa, autosomal recessive, type iiibEnrichmentPYCR12.17
31Intellectual developmental disorder, autosomal recessive 51EnrichmentHNMT2.17
32Acyl-coa dehydrogenase, medium-chain, deficiency ofEnrichmentACADM2.17
33Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR2.17
34Fanconi renotubular syndrome 3EnrichmentEHHADH2.17
35Spastic paraplegia 9b, autosomal recessiveEnrichmentALDH18A12.17
36Casgid syndromeEnrichmentGLS2.17
37Bachmann-bupp syndromeEnrichmentODC12.17
38HyperhomocysteinemiaEnrichmentCBS2.17
39Ornithine transcarbamylase deficiency, hyperammonemia due toEnrichmentOTC2.17
40Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST2.17
41Brunner syndromeEnrichmentMAOA2.17
42Intellectual developmental disorder, x-linked, syndromic, snyder-robinson typeEnrichmentSMS2.17
43HypertryptophanemiaEnrichmentTDO22.17
44Cutis laxa, autosomal dominant 3EnrichmentALDH18A12.17
45Growth retardation, impaired intellectual development, hypotonia, and hepatopathyEnrichmentIARS12.17
46Leukodystrophy, hypomyelinating, 9EnrichmentRARS12.17
47Leiomyoma cutisEnrichmentFH2.17
48Developmental and epileptic encephalopathy 71EnrichmentGLS2.17
49Aspartate aminotransferase, serum level of, quantitative trait locus 1EnrichmentGOT12.17
50Cardiomyopathy, dilated, 1ggEnrichmentSDHA2.17
51Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduriaEnrichmentIDH12.17
52Combined oxidative phosphorylation deficiency 25EnrichmentMARS22.17
53Pulmonary hypertension, neonatalEnrichmentCPS12.17
54Autosomal recessive cutis laxa type iiiEnrichmentALDH18A12.17
55Cutis laxa, autosomal recessive, type iibEnrichmentPYCR12.17
56Developmental and epileptic encephalopathy 51EnrichmentMDH22.17
57Syndromic x-linked intellectual disability snyder typeEnrichmentSMS2.17
58Fumarate hydratase deficiencyEnrichmentFH2.17
59Neurodegeneration with ataxia and late-onset optic atrophyEnrichmentSDHA2.17
60Neuronopathy, distal hereditary motor, autosomal dominant 9EnrichmentWARS12.17
61Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalitiesEnrichmentWARS12.17
62Leukodystrophy, hypomyelinating, 15EnrichmentEPRS12.17
63Choroid diseaseEnrichmentOAT2.17
64Developmental and epileptic encephalopathy 116EnrichmentGLUL2.17
65Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS2.17
66Brain calcification, rajab typeEnrichmentFARSB2.17
67Medium-chain acyl-coenzyme a dehydrogenase deficiencyEnrichmentACADM2.17
68Disorder of ornithine metabolismEnrichmentOTC2.17
69Liver cirrhosisEnrichmentFARSB2.17
70Suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduriaEnrichmentSUCLG12.17
71Autosomal dominant complex spastic paraplegia type 9bEnrichmentALDH18A12.17
72Developmental and epileptic encephalopathy 1EnrichmentCAD, MDH21.92
73Gilles de la tourette syndromeEnrichmentHDC1.87
74Leiomyoma, uterineEnrichmentFH1.87
75Fanconi-bickel syndromeEnrichmentLDHA1.87
76Citrullinemia, classicEnrichmentASS11.87
77Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentCPS11.87
78ArgininemiaEnrichmentARG11.87
793-methylcrotonyl-coa carboxylase 1 deficiencyEnrichmentMCCC11.87
80Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD1.87
81Polymyoclonus, infantileEnrichmentSDHA1.87
82Tyrosinemia, type iEnrichmentFAH1.87
83Porphyria, acute intermittentEnrichmentACO21.87
84Glutamine deficiency, congenitalEnrichmentGLUL1.87
85Hyperinsulinemic hypoglycemia, familial, 4EnrichmentHADH1.87
86Spastic ataxia 3, autosomal recessiveEnrichmentMARS21.87
87Segawa syndrome, autosomal recessiveEnrichmentTH1.87
88Orthostatic hypotension 1EnrichmentDBH1.87
89Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD1.87
90Developmental and epileptic encephalopathy 50EnrichmentCAD1.87
91Hydrops, lactic acidosis, and sideroblastic anemiaEnrichmentLARS21.87
92Aromatic l-amino acid decarboxylase deficiencyEnrichmentDDC1.87
93Pyruvate dehydrogenase e3-binding protein deficiencyEnrichmentPDHX1.87
94Amed syndrome, digenicEnrichmentADH51.87
95Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS1.87
96Developmental and epileptic encephalopathy 82EnrichmentGOT21.87
97Spastic paraplegia 5a, autosomal recessiveEnrichmentALDH18A11.87
98Developmental and epileptic encephalopathy 88EnrichmentMDH11.87
99Thyroid dyshormonogenesis 2aEnrichmentTPO1.87
1003-hydroxy-3-methylglutaryl-coa synthase-2 deficiencyEnrichmentHMGCS21.87
101Spastic ataxia 3EnrichmentMARS21.87
1023-methylcrotonyl-coa carboxylase deficiencyEnrichmentMCCC11.87
103Developmental and epileptic encephalopathy 16EnrichmentGLUL1.87
104Dopamine beta-hydroxylase deficiencyEnrichmentDBH1.87
105Acute porphyriaEnrichmentACO21.87
106Interstitial lung and liver diseaseEnrichmentFARSB1.87
107Perrault syndrome 4EnrichmentLARS21.87
108Spinocerebellar ataxia 45EnrichmentFH1.87
109Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL1.87
110CitrullinemiaEnrichmentASS11.87
111Pyridoxine-dependent-developmental and epileptic encephalopathyEnrichmentALDH7A11.87
112Connective tissue diseaseEnrichmentCBS, PYCR11.71
113Dystonia, dopa-responsiveEnrichmentTH1.70
114Mannosidosis, beta a, lysosomalEnrichmentFAH1.70
115Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS1.70
1163-methylglutaconic aciduria, type iEnrichmentAUH1.70
117Geroderma osteodysplasticumEnrichmentPYCR11.70
118D-bifunctional protein deficiencyEnrichmentEHHADH1.70
119Pyruvate carboxylase deficiencyEnrichmentPC1.70
120Methylmalonic aciduria due to methylmalonyl-coa mutase deficiencyEnrichmentMMUT1.70
121Citrin deficiency, adolescent or adult onsetEnrichmentASS11.70
122Carney triadEnrichmentSDHA1.70
123Long-chain 3-hydroxyacyl-coa dehydrogenase deficiencyEnrichmentHMGCL1.70
124Developmental and epileptic encephalopathy 13EnrichmentALDH7A11.70
125Infantile cerebellar-retinal degenerationEnrichmentACO21.70
126Optic atrophy 9EnrichmentACO21.70
127ParagangliomaEnrichmentSDHA1.70
128Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyEnrichmentVARS11.70
129Gyrate atrophy of choroid and retinaEnrichmentOAT1.70
130Autosomal dominant cutis laxaEnrichmentALDH18A11.70
131Hyperinsulinemic hypoglycemiaEnrichmentHADH1.70
132Asparagine synthetase deficiencyEnrichmentASNS1.70
133Brain cancerEnrichmentSDHA1.70
1343-methylglutaconic aciduriaEnrichmentAUH1.70
135Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentASNS1.70
136Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK11.70
137Spinocerebellar ataxia, autosomal recessive 29EnrichmentASNS1.70
138HomocystinuriaEnrichmentCBS1.70
139EnchondromatosisEnrichmentIDH11.70
140TyrosinemiaEnrichmentFAH1.70
141Pheochromocytoma/paraganglioma syndrome 1EnrichmentSDHA1.58
142Mitochondrial complex ii deficiency, nuclear type 1EnrichmentSDHA1.58
143Glycogen storage disease iaEnrichmentASS11.58
144Temporal arteritisEnrichmentP4HA21.58
145Parkinson disease, mitochondrialEnrichmentADH1C1.58
146Pilocytic astrocytomaEnrichmentSDHA1.58
147Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentACADM1.58
148Mitochondrial complex ii deficiencyEnrichmentSDHA1.58
149Primary fanconi renotubular syndromeEnrichmentEHHADH1.58
150Autosomal recessive isolated optic atrophyEnrichmentACO21.58
151Enchondromatosis, multiple, ollier typeEnrichmentIDH11.48
152Paroxysmal extreme pain disorderEnrichmentIDH11.48
153Smith-magenis syndromeEnrichmentSMS1.48
154Liver failure, infantile, transientEnrichmentMMUT1.48
155Optic atrophy plus syndromeEnrichmentACO2, OAT1.45
156Alcohol dependenceEnrichmentADH1C1.40
157Familial thyroid dyshormonogenesisEnrichmentTPO1.40
158Pain disorderEnrichmentOAT1.40
159Gastrointestinal stromal tumorEnrichmentSDHA1.34
160Multiple enchondromatosis, maffucci typeEnrichmentIDH11.34
161Isolated methylmalonic acidemiaEnrichmentMMUT1.34
162Glioma susceptibility 1EnrichmentIDH11.28
163Perrault syndromeEnrichmentLARS21.28
164Methylmalonic acidemiaEnrichmentMMUT1.28
165Perrault syndrome 2EnrichmentLARS21.23
166AsthmaEnrichmentHNMT1.15
167Mitochondrial myopathyEnrichmentLARS21.15
168Congenital hypothyroidismEnrichmentTPO1.11
169Cutis laxaEnrichmentPYCR11.11
170Lactic acidosisEnrichmentDLD1.11
171PheochromocytomaEnrichmentSDHA1.05
172Isolated macular dystrophyEnrichmentACO21.05
173Hydrocephalus, congenital, 1EnrichmentALDH7A10.99
174Perrault syndrome 1EnrichmentLARS20.99
175RhabdomyosarcomaEnrichmentSDHA0.99
176GliosarcomaEnrichmentIDH10.99
177Sudden infant death syndromeEnrichmentPDHA10.97
178Giant cell glioblastomaEnrichmentIDH10.97
179Esophageal atresia/tracheoesophageal fistulaEnrichmentGLS0.92
180LeukodystrophyEnrichmentRARS10.90
181Hepatocellular carcinomaEnrichmentFH0.86
182Myocardial infarctionEnrichmentGCLM0.86
183Parkinson disease, late-onsetEnrichmentADH1C0.83
184Congenital nervous system abnormalityEnrichmentALDH18A1, ALDH7A10.80
185Nervous system diseaseEnrichmentALDH18A1, ALDH7A10.80
186RasopathyEnrichmentDDC0.79
187Primary autosomal recessive microcephalyEnrichmentWARS10.71
188DystoniaEnrichmentTH0.68
189Developmental and epileptic encephalopathyEnrichmentGOT20.67
190Non-syndromic genetic deafnessEnrichmentLARS20.67
191Inherited cancer-predisposing syndromeEnrichmentFH, SDHA0.65
192Leukemia, acute myeloidEnrichmentIDH10.63
193EpilepsyEnrichmentALDH7A10.63
194Hereditary spastic paraplegiaEnrichmentALDH18A10.61
195Nonsyndromic hearing lossEnrichmentLARS20.61
196West syndromeEnrichmentMDH20.59
197Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCBS0.59
198Hereditary breast carcinomaEnrichmentSDHA0.59
199Familial isolated dilated cardiomyopathyEnrichmentSDHA0.52
200Hereditary breast ovarian cancer syndromeEnrichmentCPS10.51
201Autosomal recessive non-syndromic intellectual disabilityEnrichmentHNMT0.49
202Leigh syndrome, nuclearEnrichmentSDHA0.43
203Breast cancerEnrichmentSDHA0.40
204Leigh diseaseEnrichmentSDHA0.40
205Rare genetic deafnessEnrichmentLARS20.38
206Mitochondrial diseaseEnrichmentPDHX0.35
207Ovarian cancerEnrichmentFH0.31
208MicrocephalyEnrichmentIARS10.25
209Complex neurodevelopmental disorderEnrichmentWARS10.25
210Hereditary retinal dystrophyEnrichmentACO2, OAT0.23
211Fundus dystrophyEnrichmentACO2, OAT0.23

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