Glucose / Energy Metabolism

No Pathway Network information available for Glucose / Energy Metabolism

Pathways in the Glucose / Energy Metabolism SuperPath

#NameSourceGenes
1Glucose / Energy MetabolismCell Signaling Technology
(see all 307) (see less)

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

Disorders associated with Glucose / Energy Metabolism SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Crigler-najjar syndrome, type iEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A916.00
2Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A916.00
3Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A916.00
4Crigler-najjar syndrome, type iiEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A916.00
5Gilbert syndromeEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A910.94
6Bilirubin metabolic disorderEnrichmentUGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A910.94
7Type 2 diabetes mellitusEnrichmentAKT2, ENPP1, HNF1A, HNF4A, INSR, IRS1, IRS2, NEUROD1, PDX1, PPARG, PTPN1, SLC2A4, TBC1D4, WFS110.72
8Body mass index quantitative trait locus 11EnrichmentCARTPT, ENPP1, FTO, GLDC, KCNH2, PPARG, UCP2, UCP34.83
9Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF4A, INS, NEUROD1, PDX14.17
10Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentDLST, FH, MDH2, SDHA, SDHAF24.06
11Pseudoxanthoma elasticumEnrichmentABCC2, ABCC6, ENPP13.66
12Alpha-methylacetoacetic aciduriaEnrichmentACAT1, ACAT23.29
13Wolfram syndromeEnrichmentCISD2, WFS13.29
14Arterial calcification of infancyEnrichmentABCC6, ENPP13.29
15Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A3.29
16Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK1, PCK22.82
17Delta beta-thalassemiaEnrichmentHBB, HBG12.82
18Diabetes mellitusEnrichmentHNF1A, INS, WFS12.78
19Developmental and epileptic encephalopathy 1EnrichmentCAD, MDH2, SLC25A12, SLC2A12.65
20Renal glucosuriaEnrichmentSLC5A1, SLC5A22.53
21Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentLONP1, PDHA12.53
22Lipodystrophy, familial partial, type 3EnrichmentBSCL2, PPARG2.53
23Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A2.53
24Leptin deficiency or dysfunctionEnrichmentPPARG, UCP32.53
25Congenital generalized lipodystrophyEnrichmentAGPAT2, PPARG2.53
26Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB, HBG12.53
27West syndromeEnrichmentMDH2, MTHFR, SLC25A12, SLC2A1, TSC22.52
28Lipoid congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP17A1, STAR2.46
29Enchondromatosis, multiple, ollier typeEnrichmentIDH1, IDH22.31
30HemimegalencephalyEnrichmentAKT3, PTEN2.31
31Familial glucocorticoid deficiencyEnrichmentSTAR, TXNRD22.31
32Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBB, HBG12.31
33Breast cancerEnrichmentAKT1, BSCL2, CYP17A1, HNF1A, PTEN, SDHA2.16
34Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyEnrichmentCYP11A1, CYP17A12.14
35Type 1 diabetes mellitusEnrichmentHNF1A, INS2.14
3621-hydroxylase-deficient congenital adrenal hyperplasiaEnrichmentCYP11A1, CYP17A12.14
37Multiple enchondromatosis, maffucci typeEnrichmentIDH1, IDH22.00
38Leukemia, acute myeloidEnrichmentCEBPA, GATA2, IDH1, IDH21.91
39Glioma susceptibility 1EnrichmentIDH1, IDH21.88
40Fetal hemoglobin quantitative trait locus 1EnrichmentHBB, HBG11.88
41Permanent neonatal diabetes mellitusEnrichmentINS, PDX11.88
42Cowden syndromeEnrichmentAKT1, PTEN1.78
43Optic atrophy plus syndromeEnrichmentABCC6, ACO2, OPA1, WFS11.77
44MelanomaEnrichmentPTEN, STK111.69
45Hereditary leiomyomatosis and renal cell cancerEnrichmentFH1.65
46Proteus syndromeEnrichmentAKT11.65
47Cataract 41EnrichmentWFS11.65
48Insulinomatosis and diabetes mellitusEnrichmentMAFA1.65
49Hepatic adenomas, familialEnrichmentHNF1A1.65
50Hyperchlorhidrosis, isolatedEnrichmentCA121.65
51CystathioninuriaEnrichmentCTH1.65
52Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.65
53Neu-laxova syndrome 1EnrichmentPHGDH1.65
54Pancreatic agenesis 1EnrichmentPDX11.65
55Donohue syndromeEnrichmentINSR1.65
56Mitochondrial dna depletion syndrome 9EnrichmentSUCLG11.65
57Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK11.65
58Peroxisome biogenesis disorder 2aEnrichmentPEX51.65
59Sea-blue histiocyte diseaseEnrichmentAPOE1.65
60Wolfram syndrome 1EnrichmentWFS11.65
61Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK11.65
62Fructose-1,6-bisphosphatase deficiencyEnrichmentFBP11.65
63Vacterl association with hydrocephalusEnrichmentPTEN1.65
64Pulmonary alveolar microlithiasisEnrichmentSLC34A21.65
65Deafness, autosomal dominant 6EnrichmentWFS11.65
66Pheochromocytoma/paraganglioma syndrome 2EnrichmentSDHAF21.65
67Phosphoglycerate dehydrogenase deficiencyEnrichmentPHGDH1.65
68DesmosterolosisEnrichmentDHCR241.65
69Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.65
70Maturity-onset diabetes of the young, type 4EnrichmentPDX11.65
71Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.65
72Albinism, oculocutaneous, type ibEnrichmentTYR1.65
73Codas syndromeEnrichmentLONP11.65
74Fumarase deficiencyEnrichmentFH1.65
75Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.65
76AceruloplasminemiaEnrichmentCP1.65
77Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.65
78Char syndromeEnrichmentTFAP2B1.65
79Developmental and epileptic encephalopathy 39 with leukodystrophyEnrichmentSLC25A121.65
80Polysubstance abuseEnrichmentFAAH1.65
81Microvascular complications of diabetes 6EnrichmentSOD21.65
82Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP11.65
83Maturity-onset diabetes of the young, type 6EnrichmentNEUROD11.65
84Colchicine resistanceEnrichmentABCB11.65
85Lipoprotein glomerulopathyEnrichmentAPOE1.65
86Mucoepithelial dysplasia, hereditaryEnrichmentSREBF11.65
87Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG21.65
88Type 2 diabetes 5EnrichmentTBC1D41.65
89Arterial calcification, generalized, of infancy, 2EnrichmentABCC61.65
90Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.65
91Short stature, developmental delay, and congenital heart defectsEnrichmentTKT1.65
92Wolfram-like syndrome, autosomal dominantEnrichmentWFS11.65
93Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activityEnrichmentMTHFR1.65
94Adrenal insufficiency, congenital, with 46,xy sex reversal, partial or completeEnrichmentCYP11A11.65
95Short qt syndrome 1EnrichmentKCNH21.65
96Pheochromocytoma/paraganglioma syndrome 5EnrichmentSDHA1.65
97Retinitis pigmentosa 79EnrichmentHK11.65
98Pseudoxanthoma elasticum, forme frusteEnrichmentABCC61.65
99Anemia, hypochromic microcytic, with iron overload 1EnrichmentSLC11A21.65
100Alopecia-intellectual disability syndrome 1EnrichmentAHSG1.65
101Arterial calcification, generalized, of infancy, 1EnrichmentENPP11.65
102Skin/hair/eye pigmentation, variation in, 3EnrichmentTYR1.65
103Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesEnrichmentPPFIBP11.65
104Anencephaly 2EnrichmentNUAK21.65
105Combined oxidative phosphorylation deficiency 29EnrichmentTXN21.65
106Agammaglobulinemia 9, autosomal recessiveEnrichmentSLC39A71.65
107Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP1.65
108Neurodegeneration and seizures due to copper transport defectEnrichmentSLC31A11.65
109Hypervalinemia and hyperleucine-isoleucinemiaEnrichmentBCAT21.65
110Encephalopathy, acute transientEnrichmentABCB11.65
111Deafness, autosomal dominant 77EnrichmentABCC11.65
112Developmental and epileptic encephalopathy 89EnrichmentGAD11.65
113Myopathy, sarcoplasmic bodyEnrichmentMB1.65
114Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA1.65
115Lymphedema, primary, with myelodysplasiaEnrichmentGATA21.65
116Glucose/galactose malabsorptionEnrichmentSLC5A11.65
117HyperhomocysteinemiaEnrichmentCBS1.65
118Body mass index quantitative trait locus 4EnrichmentUCP21.65
119Lipodystrophy, congenital generalized, type 1EnrichmentAGPAT21.65
120Pyruvate dehydrogenase phosphatase deficiencyEnrichmentPDP11.65
121Pheochromocytoma/paraganglioma syndrome 7EnrichmentDLST1.65
122Intellectual developmental disorder, x-linked 106EnrichmentOGT1.65
123Intellectual developmental disorder, autosomal dominant 76EnrichmentMARK21.65
124Ifap syndrome 2EnrichmentSREBF11.65
125Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.65
126Cataract 49EnrichmentPANK41.65
127Papillary tumor of the pineal regionEnrichmentPTEN1.65
128Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP11.65
129Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.65
130Multiple symmetric lipomatosisEnrichmentMFN21.65
131Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.65
132Leiomyoma cutisEnrichmentFH1.65
133Hyperinsulinemic hypoglycemia, familial, 6EnrichmentGLUD11.65
134Inflammatory bowel disease 13EnrichmentABCB11.65
135Gemistocytic astrocytomaEnrichmentIDH21.65
136Protoplasmic astrocytomaEnrichmentIDH21.65
137Hypercholesterolemia, familial, 3EnrichmentPCSK91.65
138Ossification of the posterior longitudinal ligament of spineEnrichmentENPP11.65
139Growth retardation, developmental delay, and facial dysmorphismEnrichmentFTO1.65
140Glucocorticoid deficiency 5EnrichmentTXNRD21.65
141Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK11.65
142Charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2aEnrichmentMFN21.65
143Drug metabolism, poor, cyp2d6-relatedEnrichmentCYP2D61.65
144Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK11.65
145AcatalasemiaEnrichmentCAT1.65
146Cardiomyopathy, dilated, 1ggEnrichmentSDHA1.65
147Glutathione peroxidase deficiencyEnrichmentGPX11.65
148Retinal arterial macroaneurysm with supravalvular pulmonic stenosisEnrichmentIGFBP71.65
149Immunodeficiency 21EnrichmentGATA21.65
150Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.65
151Hypophosphatemic rickets, autosomal recessive, 2EnrichmentENPP11.65
152D-2-hydroxyglutaric aciduria 2EnrichmentIDH21.65
153Dominant hereditary optic atrophyEnrichmentOPA11.65
154Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduriaEnrichmentIDH11.65
155Cowden syndrome 6EnrichmentAKT11.65
156Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalitiesEnrichmentSHMT21.65
157Cole diseaseEnrichmentENPP11.65
158Immunodeficiency 78 with autoimmunity and developmental delayEnrichmentTPP21.65
159Achromatopsia 7EnrichmentATF61.65
160Body mass index quantitative trait locus 14EnrichmentFTO1.65
161Type 1 diabetes mellitus 20EnrichmentHNF1A1.65
162Glioma susceptibility 2EnrichmentPTEN1.65
163Fasting plasma glucose level quantitative trait locus 5EnrichmentGCKR1.65
164Developmental and epileptic encephalopathy 51EnrichmentMDH21.65
165Acetyl-coa acetyltransferase-2 deficiencyEnrichmentACAT21.65
166Blood group, junior systemEnrichmentABCG21.65
167Mitochondrial pyruvate carrier deficiencyEnrichmentMPC11.65
168Low density lipoprotein cholesterol level quantitative trait locus 7EnrichmentNPC1L11.65
169Patent ductus arteriosus 2EnrichmentTFAP2B1.65
170Fumarate hydratase deficiencyEnrichmentFH1.65
171Mixed oligodendroglioma-astrocytomaEnrichmentIDH21.65
172Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.65
173Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemiaEnrichmentIREB21.65
174Neurodegeneration with ataxia and late-onset optic atrophyEnrichmentSDHA1.65
175Anaplastic oligoastrocytomaEnrichmentIDH21.65
176Charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2bEnrichmentMFN21.65
177Vitamin d-dependent rickets, type 3EnrichmentCYP3A41.65
178Deafness-lymphedema-leukemia syndromeEnrichmentGATA21.65
179Developmental and epileptic encephalopathy 116EnrichmentGLUL1.65
180Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I11.65
181Developmental and epileptic encephalopathy 39EnrichmentSLC25A121.65
182Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosisEnrichmentNMNAT11.65
183Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.65
184Rhizomelic chondrodysplasia punctata, type 5EnrichmentPEX51.65
185Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.65
186Charcot-marie-tooth disease type 5EnrichmentMFN21.65
187Capillary hemangiomaEnrichmentAKT31.65
188Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA21.65
189Fibrillary astrocytomaEnrichmentIDH21.65
190Acute myocardial infarctionEnrichmentIDH21.65
191Rhabdomyolysis 2EnrichmentATP2A21.65
192Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.65
193Wolfram-like syndromeEnrichmentWFS11.65
194Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.65
195Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiencyEnrichmentCYP11A11.65
196Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.65
197Minimal pigment oculocutaneous albinism type 1EnrichmentTYR1.65
198Charcot-marie-tooth disease type 2a2bEnrichmentMFN21.65
199Sickle cell s-o arab diseaseEnrichmentHBB1.65
200Sickle cell-beta zero-thalassemiaEnrichmentHBB1.65
201Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA1.65
202Glb1-related disordersEnrichmentGLB11.65
203Non-classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR1.65
204Epilepsy with myoclonic absencesEnrichmentSLC2A11.65
205Primary triglyceride deposit cardiomyovasculopathyEnrichmentPNPLA21.65
206Suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduriaEnrichmentSUCLG11.65
207Hypopigmentation-punctate palmoplantar keratoderma syndromeEnrichmentENPP11.65
208Sickle cell s-d punjab diseaseEnrichmentHBB1.65
209Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.65
210Sickle cell s-c diseaseEnrichmentHBB1.65
211Intestinal polyposis syndromeEnrichmentSTK111.65
212Hyperinsulinism due to ucp2 deficiencyEnrichmentUCP21.65
213Wfs1 spectrum disorderEnrichmentWFS11.65
214Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.65
215Sickle cell s-e diseaseEnrichmentHBB1.65
216Classic congenital lipoid adrenal hyperplasia due to star deficencyEnrichmentSTAR1.65
217Hypopigmentation of the skinEnrichmentTYR1.65
218Akt2-related familial partial lipodystrophyEnrichmentAKT21.65
219Homozygous hemoglobin o arab diseaseEnrichmentHBB1.65
220Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.65
221Ovarian cancerEnrichmentAKT1, FH, HNF1A, PTEN, SDHAF2, TSC21.57
222MeningiomaEnrichmentAKT1, PTEN1.54
223Inherited cancer-predisposing syndromeEnrichmentCEBPA, FH, PTEN, SDHA, SDHAF2, STK11, TSC21.52
224Familial hypercholesterolemiaEnrichmentAPOE, PCSK91.36
225Leiomyoma, uterineEnrichmentFH1.35
226Peutz-jeghers syndromeEnrichmentSTK111.35
227Optic atrophy 1EnrichmentOPA11.35
228Pancreas, dorsal, agenesis ofEnrichmentPDX11.35
229Acrokeratosis verruciformisEnrichmentATP2A21.35
230Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.35
231Behr syndromeEnrichmentOPA11.35
232Fanconi-bickel syndromeEnrichmentLDHA1.35
233Citrullinemia, classicEnrichmentASS11.35
234VitreoretinochoroidopathyEnrichmentFTH11.35
235ArgininemiaEnrichmentARG11.35
236Phosphoenolpyruvate carboxykinase deficiency, mitochondrialEnrichmentPCK21.35
237Dystonia 9EnrichmentSLC2A11.35
238Polymyoclonus, infantileEnrichmentSDHA1.35
239Toe syndactyly, telecanthus, and anogenital and renal malformationsEnrichmentSTAR1.35
240Carotid intimal medial thickness 1EnrichmentPPARG1.35
241Alzheimer disease 3EnrichmentAPOE1.35
242Alveolar soft part sarcomaEnrichmentASPSCR11.35
243Neutral lipid storage disease with myopathyEnrichmentPNPLA21.35
244Leber congenital amaurosis 9EnrichmentNMNAT11.35
245Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentMFN21.35
246Porphyria, acute intermittentEnrichmentACO21.35
247Glutamine deficiency, congenitalEnrichmentGLUL1.35
248LymphangioleiomyomatosisEnrichmentTSC21.35
249Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.35
250Lymphedema-distichiasis syndromeEnrichmentFOXC21.35
251Glut1 deficiency syndrome 1EnrichmentSLC2A11.35
252Proximal renal tubular acidosis-ocular anomaly syndromeEnrichmentSLC4A41.35
253Diaphyseal medullary stenosis with malignant fibrous histiocytomaEnrichmentMTAP1.35
254Retinitis pigmentosa 50EnrichmentFTH11.35
255Diabetes insipidus, nephrogenic, 2, autosomalEnrichmentAQP21.35
256Encephalopathy, progressive, with or without lipodystrophyEnrichmentBSCL21.35
257Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT1.35
258Developmental and epileptic encephalopathy 50EnrichmentCAD1.35
259Mitochondrial dna depletion syndrome 14EnrichmentOPA11.35
260Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A1.35
261Maturity-onset diabetes of the young, type 10EnrichmentINS1.35
262Spondylometaphyseal dysplasia with cone-rod dystrophyEnrichmentPCYT1A1.35
263Optic atrophy 8EnrichmentOPA11.35
264Myasthenic syndrome, congenital, 12EnrichmentGFPT11.35
265Albinism, oculocutaneous, type iaEnrichmentTYR1.35
266Bile acid synthesis defect, congenital, 4EnrichmentAMACR1.35
267Alpha-methylacyl-coa racemase deficiencyEnrichmentAMACR1.35
268Cardiomyopathy, dilated, 1ffEnrichmentKLF51.35
269Hypothyroidism, congenital, nongoitrous, 6EnrichmentNR1D11.35
270Peroxisome biogenesis disorder 2bEnrichmentPEX51.35
271Hermansky-pudlak syndrome 3EnrichmentCP1.35
272Abdominal obesity-metabolic syndrome 3EnrichmentDYRK1B1.35
273HyperproinsulinemiaEnrichmentINS1.35
274Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.35
275Microcephaly 21, primary, autosomal recessiveEnrichmentGAPDH1.35
276Multiple mitochondrial dysfunctions syndrome 10EnrichmentCIAO11.35
277Hyperlipoproteinemia, type iiiEnrichmentAPOE1.35
278Perrault syndrome 3EnrichmentCLPP1.35
2793-hydroxy-3-methylglutaryl-coa synthase-2 deficiencyEnrichmentHMGCS21.35
280Autosomal recessive hypophosphatemic ricketsEnrichmentENPP11.35
281Osteopetrosis, autosomal recessive 3EnrichmentCA21.35
282Melanoma, cutaneous malignant 8EnrichmentTYR1.35
283Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.35
284Developmental and epileptic encephalopathy 16EnrichmentGLUL1.35
285Glycogen storage disease 0, muscleEnrichmentGYS11.35
286Hemochromatosis, type 5EnrichmentFTH11.35
287Glycogen storage disease xiiEnrichmentALDOA1.35
288Senior-loken syndrome 7EnrichmentAKT31.35
289Neuronopathy, distal hereditary motor, autosomal dominant 13EnrichmentBSCL21.35
290OligodendrogliomaEnrichmentIDH21.35
291Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.35
292Acute porphyriaEnrichmentACO21.35
293Congenital hemolytic anemiaEnrichmentG6PD1.35
294Cic-rearranged sarcomaEnrichmentAKR1C21.35
295Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB1.35
296Axonal neuropathyEnrichmentMFN21.35
297Bardet-biedl syndrome 16EnrichmentAKT31.35
298Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD1.35
299Anaplastic oligodendrogliomaEnrichmentIDH21.35
300Spinocerebellar ataxia 45EnrichmentFH1.35
301Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL1.35
302Dystonia 28, childhood-onsetEnrichmentENPP11.35
303Isolated anencephalyEnrichmentMTHFR1.35
304CitrullinemiaEnrichmentASS11.35
305Lipodystrophy, congenital generalized, type 5EnrichmentPCYT1A1.35
306Severe neurodegenerative syndrome with lipodystrophyEnrichmentBSCL21.35
307Familial partial lipodystrophyEnrichmentPPARG1.35
308Vacterl with hydrocephalusEnrichmentPTEN1.35
309Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.35
310Autosomal recessive proximal renal tubular acidosisEnrichmentSLC4A41.35
311HyperinsulinismEnrichmentHNF4A1.35
312D-2-hydroxyglutaric aciduriaEnrichmentIDH21.35
313Neurodegeneration with brain iron accumulation 9EnrichmentFTH11.35
314Sickle cell s-lepore diseaseEnrichmentHBB1.35
315Isolated exencephalyEnrichmentMTHFR1.35
316Juvenile polyposis of infancyEnrichmentPTEN1.35
317Diaphyseal medullary stenosis-bone malignancy syndromeEnrichmentMTAP1.35
318Familial patent arterial ductEnrichmentTFAP2B1.35
319Multiple system atrophy, cerebellar typeEnrichmentMFN21.35
320RhabdomyosarcomaEnrichmentPTEN, SDHA1.30
321GliosarcomaEnrichmentIDH1, PPARG1.30
322Giant cell glioblastomaEnrichmentIDH1, PPARG1.26
323Darier-white diseaseEnrichmentATP2A21.18
324Type 1 diabetes mellitus 2EnrichmentINS1.18
325Gm1-gangliosidosis, type iEnrichmentGLB11.18
326Dubin-johnson syndromeEnrichmentABCC21.18
327Mucopolysaccharidosis, type ivbEnrichmentGLB11.18
328Homocystinuria due to cystathionine beta-synthase deficiencyEnrichmentCBS1.18
329Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyEnrichmentCYP17A11.18
330Gm1-gangliosidosis, type iiEnrichmentGLB11.18
331Tuberous sclerosis 1EnrichmentTSC21.18
332Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF11.18
333Citrin deficiency, adolescent or adult onsetEnrichmentASS11.18
334Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.18
335Epilepsy, familial temporal lobe, 1EnrichmentMICAL11.18
336Myoglobinuria, acute recurrent, autosomal recessiveEnrichmentLPIN11.18
337Carney triadEnrichmentSDHA1.18
338Neuropathy, hereditary motor and sensory, type via, with optic atrophyEnrichmentMFN21.18
339Glut1 deficiency syndrome 2EnrichmentSLC2A11.18
340Alzheimer disease 4EnrichmentAPOE1.18
341Mitochondrial complex i deficiency, nuclear type 20EnrichmentACAD91.18
342Aromatase excess syndromeEnrichmentCYP19A11.18
343Wolfram syndrome 2EnrichmentCISD21.18
344Glaucoma, normal tensionEnrichmentOPA11.18
345Adiponectin deficiencyEnrichmentADIPOQ1.18
34646,xy sex reversal 8EnrichmentAKR1C21.18
347Tuberous sclerosis 2EnrichmentTSC21.18
348Lipodystrophy, familial partial, type 6EnrichmentLIPE1.18
349Gm1-gangliosidosis, type iiiEnrichmentGLB11.18
350Infantile cerebellar-retinal degenerationEnrichmentACO21.18
351Lipodystrophy, familial partial, type 4EnrichmentPLIN11.18
352Optic atrophy 9EnrichmentACO21.18
353Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentKCNH21.18
354ParagangliomaEnrichmentSDHA1.18
355Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.18
356Keratosis follicularis spinulosa decalvansEnrichmentSAT11.18
357Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.18
358Familial renal glucosuriaEnrichmentSLC5A21.18
359Gm1 gangliosidosisEnrichmentGLB11.18
360HamartomaEnrichmentTSC21.18
361Testicular germ cell cancerEnrichmentSTK111.18
362Anaplastic astrocytomaEnrichmentIDH21.18
363Xanthinuria, type iiEnrichmentTSC21.18
364Chromophobe renal cell carcinomaEnrichmentHNF1A1.18
365Hemoglobin e diseaseEnrichmentHBB1.18
366Aromatase deficiencyEnrichmentCYP19A11.18
367Nephrogenic diabetes insipidusEnrichmentAQP21.18
368Brain cancerEnrichmentSDHA1.18
369Laryngeal squamous cell carcinomaEnrichmentPTEN1.18
370Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.18
371Sickle cell-hemoglobin c diseaseEnrichmentHBB1.18
372HomocystinuriaEnrichmentCBS1.18
373Hemoglobin d diseaseEnrichmentHBB1.18
374Alopecia - intellectual disability syndromeEnrichmentAHSG1.18
375EnchondromatosisEnrichmentIDH11.18
376Testicular cancerEnrichmentSTK111.18
377Unstable hemoglobin diseaseEnrichmentHBB1.18
378Autosomal dominant optic atrophy, classic formEnrichmentOPA11.18
379Hyperpigmentation of the skinEnrichmentMFN21.18
380Apc-associated polyposis conditionsEnrichmentSTK111.18
381Hemoglobin e/beta thalassemia diseaseEnrichmentHBB1.18
382Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentBSCL2, MFN21.17
383Hereditary breast carcinomaEnrichmentAKT1, PTEN, SDHA1.11
384Pheochromocytoma/paraganglioma syndrome 1EnrichmentSDHA1.06
385Mitochondrial complex ii deficiency, nuclear type 1EnrichmentSDHA1.06
386Glycogen storage disease iaEnrichmentASS11.06
387Spastic paraplegia 17, autosomal dominantEnrichmentBSCL21.06
388Macular degeneration, age-related, 1EnrichmentAPOE1.06
389Neural tube defects, folate-sensitiveEnrichmentMTHFR1.06
390Lipodystrophy, congenital generalized, type 2EnrichmentBSCL21.06
391Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.06
392Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.06
393Focal cortical dysplasia, type iiEnrichmentTSC21.06
394Sickle cell diseaseEnrichmentHBB1.06
395Bestrophinopathy, autosomal recessiveEnrichmentFTH11.06
396Beta-thalassemia, dominant inclusion body typeEnrichmentHBB1.06
397Long qt syndrome 2EnrichmentKCNH21.06
398Cardiomyopathy, familial hypertrophic, 26EnrichmentKCNH21.06
399Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD11.06
400Erythrocytosis, familial, 6EnrichmentHBB1.06
401Beta-thalassemia intermediaEnrichmentHBB1.06
402Neonatal diabetes mellitusEnrichmentINS1.06
403Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.06
404Generalized epilepsyEnrichmentGLDC1.06
405Rhizomelic chondrodysplasia punctataEnrichmentPEX51.06
406Tuberous sclerosisEnrichmentTSC21.06
407HemoglobinopathyEnrichmentHBB1.06
408Pilocytic astrocytomaEnrichmentSDHA1.06
409Spastic quadriplegic cerebral palsyEnrichmentGAD11.06
410Hereditary recurrent myoglobinuriaEnrichmentLPIN11.06
411Diabetes insipidusEnrichmentAQP21.06
412Mitochondrial complex ii deficiencyEnrichmentSDHA1.06
413Hemoglobin c diseaseEnrichmentHBB1.06
414Pediatric systemic lupus erythematosusEnrichmentSAT11.06
415Isolated focal cortical dysplasia type iiEnrichmentTSC21.06
416GliomaEnrichmentPTEN1.06
417Methemoglobinemia, beta-globin typeEnrichmentHBB1.06
418Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.06
419Atypical glycine encephalopathyEnrichmentGLDC1.06
420Autosomal recessive isolated optic atrophyEnrichmentACO21.06
421Hepatocellular carcinomaEnrichmentFH, IGF2R1.06
422MalariaEnrichmentG6PD, HBB1.02
423Alzheimer disease 2EnrichmentAPOE0.97
424Macular dystrophy, vitelliform, 2EnrichmentFTH10.97
425Paroxysmal extreme pain disorderEnrichmentIDH10.97
4263-methylglutaconic aciduria, type iiiEnrichmentOPA10.97
427Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD0.97
428Neuronopathy, distal hereditary motor, autosomal dominant 5EnrichmentBSCL20.97
429Congenital myopathy 3 with rigid spineEnrichmentHMGCS10.97
430Macrocephaly/autism syndromeEnrichmentPTEN0.97
431Insulin-like growth factor iEnrichmentIGF1R0.97
432Familial adenomatous polyposis 1EnrichmentSTK110.97
433ThalassemiaEnrichmentHBB0.97
434OsteopetrosisEnrichmentCA20.97
435HemangiomaEnrichmentPTEN0.97
436Acute megakaryocytic leukemiaEnrichmentPTEN0.97
437Congenital short qt syndromeEnrichmentKCNH20.97
438Inherited acute myeloid leukemiaEnrichmentCEBPA0.97
439Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA0.97
440Genetic motor neuron diseaseEnrichmentMFN20.97
441Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK110.97
442Congenital myasthenic syndromes with glycosylation defectEnrichmentGFPT10.97
443Hydrops fetalis, nonimmuneEnrichmentDHCR24, FOXC20.93
444Auditory neuropathyEnrichmentMFN2, OPA10.93
445StrabismusEnrichmentSLC2A1, TYR0.91
446Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentGLB10.89
447Alcohol dependenceEnrichmentADH1B0.89
448Cowden syndrome 1EnrichmentPTEN0.89
449Wolf-hirschhorn syndromeEnrichmentCTBP10.89
450Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGLUD10.89
451Peroxisome biogenesis disorder 1aEnrichmentPEX50.89
452Testicular germ cell tumorEnrichmentSTK110.89
453Albinism, ocular, type iEnrichmentTYR0.89
454Methemoglobinemia, beta typeEnrichmentHBB0.89
455Intestinal pseudo-obstructionEnrichmentTFAP2B0.89
456DiarrheaEnrichmentNMNAT10.89
457Lipid metabolism disorderEnrichmentAPOE0.89
458Clear cell renal cell carcinomaEnrichmentHNF1A0.89
459Breast adenocarcinomaEnrichmentAKT10.89
46046,xy disorder of sex developmentEnrichmentINSR0.89
461Autosomal dominant secondary polycythemiaEnrichmentHBB0.89
462Glycine encephalopathyEnrichmentGLDC0.89
463AlbinismEnrichmentTYR0.89
464Nonsyndromic genetic hyperinsulinismEnrichmentGLUD10.89
465Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.83
466Thyroid cancer, nonmedullary, 2EnrichmentPTEN0.83
467Thrombophilia due to thrombin defectEnrichmentMTHFR0.83
468Squamous cell carcinoma, head and neckEnrichmentPTEN0.83
469Brugada syndrome 1EnrichmentKCNH20.83
470Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentWFS10.83
471Gastrointestinal stromal tumorEnrichmentSDHA0.83
472Waardenburg syndrome, type 2eEnrichmentTYR0.83
473Beta-thalassemiaEnrichmentHBB0.83
474Progressive familial intrahepatic cholestasisEnrichmentGLB10.83
475Beta-thalassemia majorEnrichmentHBB0.83
476Oculocutaneous albinismEnrichmentTYR0.83
477Polycystic kidney disease 1EnrichmentTSC20.83
478Renal cell carcinoma with mit translocationsEnrichmentASPSCR10.83
479MegacolonEnrichmentAKT30.83
480Follicular thyroid carcinomaEnrichmentPTEN0.83
481Hemolytic anemiaEnrichmentHBB0.83
482Paroxysmal dystoniaEnrichmentSLC2A10.83
483Hypophosphatemic ricketsEnrichmentENPP10.83
484Primary ovarian insufficiencyEnrichmentCYP17A1, CYP19A1, IGF2R0.83
485Non-immune hydrops fetalisEnrichmentDHCR24, FOXC20.81
486Peripheral nervous system diseaseEnrichmentBSCL2, MFN20.79
487NeuropathyEnrichmentBSCL2, MFN20.79
488Heinz body anemiasEnrichmentHBB0.78
489Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentPRDX10.78
490Glycine encephalopathy 1EnrichmentGLDC0.78
491Alternating hemiplegia of childhoodEnrichmentSLC2A10.78
492Heinz body anemiaEnrichmentHBB0.78
493Homozygous familial hypercholesterolemiaEnrichmentPCSK90.78
494Zellweger spectrum disorderEnrichmentPEX50.78
495Combined pituitary hormone deficiencyEnrichmentFOXA20.78
496Early-onset posterior polar cataractEnrichmentPANK40.78
497Familial hypertrophic cardiomyopathyEnrichmentKCNH2, PRKAG20.77
498Orofacial cleft 1EnrichmentACSS20.73
499Alpha-thalassemiaEnrichmentHBB0.73
500Coronary heart disease 5EnrichmentG6PD0.73
501Myoclonic-atonic epilepsyEnrichmentSLC2A10.73
502Perrault syndrome 2EnrichmentCLPP0.73
503Adult hepatocellular carcinomaEnrichmentTSC20.73
504Bilateral perisylvian polymicrogyriaEnrichmentWFS10.73
505Autosomal dominant cerebellar ataxiaEnrichmentOPA10.73
506Eye diseaseEnrichmentABCC6, TYR0.73
507Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentGFPT10.69
508Neurodegeneration with brain iron accumulationEnrichmentCP0.69
509PolymicrogyriaEnrichmentAKT30.69
510Optic nerve diseaseEnrichmentTYR0.69
511AchromatopsiaEnrichmentATF60.69
512Hereditary retinal dystrophyEnrichmentABCC6, ACO2, ATF6, FTH1, HK1, NEUROD1, NMNAT1, OPA1, WFS10.67
513Fundus dystrophyEnrichmentABCC6, ACO2, ATF6, FTH1, HK1, NEUROD1, NMNAT1, OPA1, WFS10.67
514Epilepsy, idiopathic generalizedEnrichmentABCB10.65
515Meningioma, familialEnrichmentPTEN0.65
516Myelodysplastic syndromeEnrichmentGATA20.65
517Glycogen storage diseaseEnrichmentGYS10.65
518Uterine corpus cancerEnrichmentPTEN0.65
519Autism spectrum disorderEnrichmentHK1, MARK2, PTEN, TSC20.63
520Charcot-marie-tooth diseaseEnrichmentBSCL2, MFN20.62
521Digeorge syndromeEnrichmentHNF1A0.62
522Cutis laxaEnrichmentABCC60.62
523Lip and oral cavity carcinomaEnrichmentSTK110.62
524Congenital long qt syndromeEnrichmentKCNH20.62
525Gastric cancerEnrichmentPTEN, STK110.59
526Microphthalmia/coloboma 12EnrichmentYAP10.59
527Diaphragmatic hernia, congenitalEnrichmentLONP10.59
528Hypercholesterolemia, familial, 1EnrichmentPCSK90.59
529Neural tube defectsEnrichmentMTHFR0.59
530Alzheimer's diseaseEnrichmentAPOE0.59
531Protein-deficiency anemiaEnrichmentHBB0.59
532Neonatal adrenoleukodystrophyEnrichmentPEX50.59
533Nk-cell enteropathyEnrichmentIGF1R0.59
534PheochromocytomaEnrichmentSDHA0.56
535Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX4I10.56
536Congenital myasthenic syndromeEnrichmentGFPT10.56
537Isolated macular dystrophyEnrichmentACO20.56
538Coloboma of maculaEnrichmentYAP10.54
539Renal cell carcinoma, nonpapillaryEnrichmentHNF1A0.54
540Peroxisome biogenesis disorder 1bEnrichmentPEX50.54
541MyopiaEnrichmentTYR0.54
542Atypical hemolytic-uremic syndromeEnrichmentHBB0.54
543Hermansky-pudlak syndromeEnrichmentCP0.54
544Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.54
545Zellweger syndromeEnrichmentPEX50.54
546MicrocephalyEnrichmentIGF1R, MFN2, PPFIBP1, SLC2A10.52
547Hermansky-pudlak syndrome 1EnrichmentCP0.51
548Wolff-parkinson-white syndromeEnrichmentPRKAG20.51
549Perrault syndrome 1EnrichmentCLPP0.51
550Alzheimer disease, familial, 1EnrichmentAPOE0.49
551Melanoma, cutaneous malignant 1EnrichmentSTK110.49
552Sudden infant death syndromeEnrichmentPDHA10.49
553Cataract 44EnrichmentPGRMC10.49
554Polycystic liver diseaseEnrichmentHNF4A0.49
555Autosomal dominant polycystic liver diseaseEnrichmentHNF4A0.49
556Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentABCC1, WFS10.48
557Beckwith-wiedemann syndromeEnrichmentMFN20.47
558Neuromuscular diseaseEnrichmentCIAO10.47
559Early-onset nuclear cataractEnrichmentWFS10.47
560Spastic ataxiaEnrichmentGLB1, WFS10.47
561Familial isolated dilated cardiomyopathyEnrichmentSDHA, TXNRD20.47
562Diffuse large b-cell lymphomaEnrichmentPTEN0.45
563Hereditary breast ovarian cancer syndromeEnrichmentPTEN, SLC34A20.45
564Myeloma, multipleEnrichmentSGK1, YAP10.44
565CraniosynostosisEnrichmentTFAP2B0.43
566Endometrial cancerEnrichmentPTEN0.42
567Centronuclear myopathyEnrichmentOPA10.42
568Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX4I10.40
569Skin diseaseEnrichmentTYR0.40
570Cone dystrophyEnrichmentNMNAT10.37
571Pancreatic cancerEnrichmentSTK110.36
572Brugada syndromeEnrichmentKCNH20.35
573Cone-rod dystrophy 2EnrichmentATF6, NMNAT10.34
574Bladder cancerEnrichmentPTEN0.31
575Hirschsprung disease 1EnrichmentSREBF10.31
576Prostate cancerEnrichmentPTEN0.31
577Differentiated thyroid carcinomaEnrichmentPPARG0.31
578Long qt syndrome 1EnrichmentKCNH20.30
579Stargardt disease 1EnrichmentOPA10.30
580Long qt syndromeEnrichmentKCNH20.29
581Connective tissue diseaseEnrichmentCBS0.28
582Developmental and epileptic encephalopathyEnrichmentBSCL20.25
583Non-syndromic genetic deafnessEnrichmentWFS10.25
584Mitochondrial complex i deficiency, nuclear type 1EnrichmentACAD90.24
585Colorectal cancerEnrichmentAKT1, PPARG0.23
586Mitochondrial diseaseEnrichmentC1QBP, OPA10.23
587Cerebral palsyEnrichmentMFN20.23
588EpilepsyEnrichmentSLC2A10.22
589Benign epilepsy with centrotemporal spikesEnrichmentSLC2A10.22
590Hereditary spastic paraplegiaEnrichmentBSCL20.21
591Nonsyndromic hearing lossEnrichmentWFS10.21
592Centralopathic epilepsyEnrichmentSLC2A10.20
593Hypertrophic cardiomyopathyEnrichmentPRKAG20.20
594Familial thoracic aortic aneurysm and aortic dissectionEnrichmentCBS0.20
595Leber plus diseaseEnrichmentNMNAT1, PCYT1A0.20
596ThrombocytopeniaEnrichmentTPP20.18
597Autosomal dominant non-syndromic intellectual disabilityEnrichmentBRSK20.17
598Congenital nervous system abnormalityEnrichmentPTEN, TSC20.16
599Nervous system diseaseEnrichmentPTEN, TSC20.16
600Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A0.13
601SchizophreniaEnrichmentMTHFR0.13
602Leigh syndrome, nuclearEnrichmentSDHA0.10
603Leigh diseaseEnrichmentSDHA0.08
604Rare genetic deafnessEnrichmentWFS10.08
605Retinitis pigmentosaEnrichmentGLDC, HK10.02

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