AMPK Enzyme Complex Pathway

No Pathway Network information available for AMPK Enzyme Complex Pathway

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

Disorders associated with AMPK Enzyme Complex Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Coffin-siris syndrome 1EnrichmentSMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE110.74
2Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX10, COX4I1, COX5A, COX6A2, COX6B1, COX8A8.28
3Rhabdoid tumor predisposition syndromeEnrichmentSMARCA4, SMARCB16.00
4Focal cortical dysplasia, type iiEnrichmentMTOR, TSC1, TSC25.25
5Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC1, TSC25.25
6Meningioma, familialEnrichmentSMARCB1, SMARCE14.27
7MeningiomaEnrichmentSMARCB1, SMARCE14.19
8Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX10, COX4I1, COX6B1, COX8A4.01
9Type 2 diabetes mellitusEnrichmentAKT2, INSR, IRS1, IRS2, SLC2A43.98
10Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.90
11LymphangioleiomyomatosisEnrichmentTSC1, TSC23.90
12Glycogen storage diseaseEnrichmentGYS1, GYS2, PFKM3.66
13Inherited cancer-predisposing syndromeEnrichmentSMARCA4, SMARCB1, SMARCE13.52
14Tuberous sclerosis 1EnrichmentTSC1, TSC23.42
15Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R13.42
16HamartomaEnrichmentTSC1, TSC23.42
17Anastomosing haemangiomaEnrichmentGNA11, GNA143.42
18Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.13
19Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.13
20Tuberous sclerosisEnrichmentTSC1, TSC23.13
21Basan syndromeEnrichmentSMARCAD12.99
22AdermatoglyphiaEnrichmentSMARCAD12.99
23Huriez syndromeEnrichmentSMARCAD12.99
24Coffin-siris syndrome 5EnrichmentSMARCE12.99
25Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS2.99
26Coffin-siris syndrome 11EnrichmentSMARCD12.99
27Hydrocephalus, congenital, 5EnrichmentSMARCC12.99
28Rhabdoid tumor predisposition syndrome 1EnrichmentSMARCB12.99
29NeurilemmomaEnrichmentSMARCB12.99
30Coffin-siris syndrome 3EnrichmentSMARCB12.99
31Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.99
32Ovarian small cell carcinomaEnrichmentSMARCA42.99
33Blepharophimosis-impaired intellectual development syndromeEnrichmentSMARCA22.99
34Keratoderma with scleroatrophy of the extremitiesEnrichmentSMARCAD12.99
35Facial cleftEnrichmentSMARCE12.99
36Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD22.99
37HemimegalencephalyEnrichmentAKT3, MTOR2.91
38Alopecia, androgenetic, 1EnrichmentSMARCD12.69
39Specific granule deficiency 1EnrichmentSMARCD22.69
40Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA42.69
41Schwannomatosis 1EnrichmentSMARCB12.69
42Specific granule deficiency 2EnrichmentSMARCD22.69
43Coffin-siris syndrome 8EnrichmentSMARCC22.69
44Otosclerosis 12EnrichmentSMARCA42.69
45Coffin-siris syndrome 4EnrichmentSMARCA42.69
46Blepharophimosis - intellectual disability syndromeEnrichmentSMARCA22.69
47Specific granule deficiencyEnrichmentSMARCD22.69
48Myasthenic syndrome, congenital, 1a, slow-channelEnrichmentCHRNA1, CHRNB12.59
49Overgrowth syndromeEnrichmentMTOR, PIK3R12.59
50MicrocephalyEnrichmentARID1A, GNAO1, GNB1, SLC2A1, SMARCA5, SMARCAL12.57
51Atypical teratoid rhabdoid tumorEnrichmentSMARCB12.51
52SchwannomatosisEnrichmentSMARCB12.51
53Nicolaides-baraitser syndromeEnrichmentSMARCA22.38
54BlepharophimosisEnrichmentSMARCA22.38
55Smarca2-related nicolaides-baraitser syndromeEnrichmentSMARCA22.38
56Full schwannomatosisEnrichmentSMARCB12.38
57Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.36
58Adult hepatocellular carcinomaEnrichmentTSC1, TSC22.36
59Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS2.21
60Congenital hydrocephalusEnrichmentSMARCC12.14
61Postsynaptic congenital myasthenic syndromesEnrichmentCHRNA1, CHRNB12.11
62Ewing sarcomaEnrichmentSMARCA52.08
63NeuroblastomaEnrichmentSMARCA42.08
64Ventricular septal defectEnrichmentSMARCA42.03
65Proteus syndromeEnrichmentAKT11.95
66Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.95
67Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.95
68Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.95
69Donohue syndromeEnrichmentINSR1.95
70Linear skin defects with multiple congenital anomalies 2EnrichmentCOX7B1.95
71Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.95
72Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.95
73Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.95
74Pseudohypoparathyroidism, type icEnrichmentGNAS1.95
75Carney complex, type 1EnrichmentPRKAR1A1.95
76Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.95
77Carnitine acetyltransferase deficiencyEnrichmentCRAT1.95
78Osseous heteroplasia, progressiveEnrichmentGNAS1.95
79Myasthenic syndrome, congenital, 2a, slow-channelEnrichmentCHRNB11.95
80Schimke immunoosseous dysplasiaEnrichmentSMARCAL11.95
81Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiencyEnrichmentCHRNB11.95
82Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.95
83Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.95
84Ventricular tachycardia, familialEnrichmentGNAI21.95
85Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.95
86Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.95
87Mitochondrial complex iv deficiency, nuclear type 18EnrichmentCOX6A21.95
88Pituitary adenoma 3, multiple typesEnrichmentGNAS1.95
89Short syndromeEnrichmentPIK3R11.95
90Mitochondrial complex iv deficiency, nuclear type 23EnrichmentCOX111.95
91Acetyl-coa carboxylase-alpha deficiencyEnrichmentACACA1.95
92Spermatogenic failure 27EnrichmentAK71.95
93Cardioacrofacial dysplasia 2EnrichmentPRKACB1.95
94Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.95
95Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.95
96Myxoma, intracardiacEnrichmentPRKAR1A1.95
97Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.95
98Developmental and epileptic encephalopathy 17EnrichmentGNAO11.95
99Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.95
100Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.95
101Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.95
102Dystonia 25EnrichmentGNAL1.95
103Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.95
104Hypocalcemia, autosomal dominant 2EnrichmentGNA111.95
105Cowden syndrome 6EnrichmentAKT11.95
106Immunodeficiency 46EnrichmentTFRC1.95
107Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.95
108Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.95
109Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.95
110Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisEnrichmentCOX4I21.95
111Disorders of gnas inactivationEnrichmentGNAS1.95
112Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.95
113Cardioacrofacial dysplasia 1EnrichmentPRKACA1.95
114Thrombocytopenia 6EnrichmentSRC1.95
115Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.95
116Mitochondrial complex iv deficiency, nuclear type 7EnrichmentCOX6B11.95
117Mitochondrial complex iv deficiency, nuclear type 20EnrichmentCOX5A1.95
118Neurodegeneration with brain iron accumulation 8EnrichmentCRAT1.95
119Sick sinus syndrome 4EnrichmentGNB21.95
120Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I11.95
121Mitochondrial complex iv deficiency, nuclear type 15EnrichmentCOX8A1.95
122Charcot-marie-tooth disease, recessive intermediate dEnrichmentCOX6A11.95
123Low density lipoprotein cholesterol level quantitative trait locus 3EnrichmentHMGCR1.95
124Muscular dystrophy, limb-girdle, autosomal recessive 28EnrichmentHMGCR1.95
125Lipodystrophy, familial partial, type 8EnrichmentADRA2A1.95
126Capillary hemangiomaEnrichmentAKT31.95
127Pancreatic insufficiency-anemia-hyperostosis syndromeEnrichmentCOX4I21.95
128Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.95
129Aquagenic palmoplantar keratodermaEnrichmentCFTR1.95
130Epilepsy with myoclonic absencesEnrichmentSLC2A11.95
131Monostotic fibrous dysplasiaEnrichmentGNAS1.95
132Gnao1-related disorderEnrichmentGNAO11.95
133Phakomatosis cesiomarmorataEnrichmentGNA111.95
134Intestinal polyposis syndromeEnrichmentSTK111.95
135Kaposiform hemangioendotheliomaEnrichmentGNA141.95
136Mazabraud syndromeEnrichmentGNAS1.95
137Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.95
138Akt2-related familial partial lipodystrophyEnrichmentAKT21.95
139Atrial heart septal defectEnrichmentSMARCA41.95
140Interatrial communicationEnrichmentSMARCA41.95
141Rare genetic intellectual disabilityEnrichmentGNAO1, MTOR1.92
142West syndromeEnrichmentGNAO1, SLC2A1, TSC21.88
143Hypercholesterolemia, familial, 1EnrichmentSMARCA41.87
144Nk-cell enteropathyEnrichmentSMARCB11.87
145Pituitary stalk interruption syndromeEnrichmentSMARCA21.84
146Familial hypercholesterolemiaEnrichmentSMARCA41.81
147Hypertension, essentialEnrichmentGNB3, NOS31.81
148Cleft palate, isolatedEnrichmentGNB1, SMARCA41.81
149Colorectal cancerEnrichmentAKT1, ARID1A, PIK3R1, SRC1.77
150Peutz-jeghers syndromeEnrichmentSTK111.65
151Pseudohypoparathyroidism, type iaEnrichmentGNAS1.65
152Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.65
153Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.65
154Glycogen storage disease 0, liverEnrichmentGYS21.65
155Glycogen storage disease viiEnrichmentPFKM1.65
156Cutis marmorata telangiectatica congenitaEnrichmentGNA111.65
157Immunoerythromyeloid hypoplasiaEnrichmentAK21.65
158Reticular dysgenesisEnrichmentAK21.65
159Spermatogenic failure, y-linked, 2EnrichmentCFTR1.65
160Dystonia 9EnrichmentSLC2A11.65
161Carnitine palmitoyltransferase ii deficiency, infantileEnrichmentCPT21.65
162Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.65
163PseudopseudohypoparathyroidismEnrichmentGNAS1.65
164Carnitine palmitoyltransferase ii deficiency, lethal neonatalEnrichmentCPT21.65
165Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.65
166Glut1 deficiency syndrome 1EnrichmentSLC2A11.65
167Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.65
168Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A1.65
169Mitochondrial complex iv deficiency, nuclear type 6EnrichmentCOX151.65
170Angioma, tuftedEnrichmentGNA141.65
171Maturity-onset diabetes of the young, type 10EnrichmentINS1.65
172Night blindness, congenital stationary, type 1hEnrichmentGNB31.65
173Carnitine palmitoyltransferase ii deficiency, myopathic, stress-inducedEnrichmentCPT21.65
174Encephalopathy, acute, infection-induced 4EnrichmentCPT21.65
175Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.65
176HyperproinsulinemiaEnrichmentINS1.65
177Spastic paraplegia 73, autosomal dominantEnrichmentCPT1C1.65
178Cebalid syndromeEnrichmentMTOR1.65
179Usher syndrome, type ivEnrichmentPRKAR1A1.65
180Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.65
181Polyhydramnios, megalencephaly, and symptomatic epilepsyEnrichmentSTRADA1.65
182Glycogen storage disease 0, muscleEnrichmentGYS11.65
183Senior-loken syndrome 7EnrichmentAKT31.65
184Autosomal dominant hypocalcemiaEnrichmentGNA111.65
185AcrodysostosisEnrichmentPRKAR1A1.65
186PseudohypoparathyroidismEnrichmentGNAS1.65
187Fibrolamellar carcinomaEnrichmentPRKACA1.65
188Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.65
189Anemia, congenital, nonspherocytic hemolytic, 3EnrichmentAK11.65
190Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.65
191Bardet-biedl syndrome 16EnrichmentAKT31.65
192HypopituitarismEnrichmentGNAI21.65
193Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.65
194Smith-kingsmore syndromeEnrichmentMTOR1.65
195Glycogen storage disorder due to hepatic glycogen synthase deficiencyEnrichmentGYS21.65
196Houge-janssens syndrome 3EnrichmentPPP2CA1.65
197Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.65
198Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.65
199Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.65
200Acute necrotizing encephalopathy of childhoodEnrichmentCPT21.65
201Cerebral visual impairmentEnrichmentGNB11.65
202Phakomatosis cesioflammeaEnrichmentGNA111.65
203Congenital nervous system abnormalityEnrichmentCPT2, GNAO1, GNB5, TSC21.50
204Nervous system diseaseEnrichmentCPT2, GNAO1, GNB5, TSC21.50
205Developmental and epileptic encephalopathy 1EnrichmentGNAO1, SLC2A11.49
206Mccune-albright syndromeEnrichmentGNAS1.48
207Type 1 diabetes mellitus 2EnrichmentINS1.48
208Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.48
209Linear skin defects with multiple congenital anomalies 1EnrichmentCOX7B1.48
210Hemochromatosis, type 3EnrichmentTFR21.48
211Nuchal bleb, familialEnrichmentCFTR1.48
212Glut1 deficiency syndrome 2EnrichmentSLC2A11.48
213Tuberous sclerosis 2EnrichmentTSC21.48
214Lipodystrophy, familial partial, type 6EnrichmentLIPE1.48
215Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.48
216Coffin-siris syndrome 2EnrichmentARID1A1.48
217Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.48
218Testicular germ cell cancerEnrichmentSTK111.48
219Xanthinuria, type iiEnrichmentTSC21.48
220Immunodeficiency 14EnrichmentPIK3R11.48
221Periventricular leukomalaciaEnrichmentARID1A1.48
222Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.48
223Testicular cancerEnrichmentSTK111.48
224Apc-associated polyposis conditionsEnrichmentSTK111.48
225Hydrops fetalis, nonimmuneEnrichmentARID1A, CHRNA11.46
226Non-syndromic x-linked intellectual disabilityEnrichmentSMARCA11.44
227StrabismusEnrichmentGNB1, SLC2A11.43
228Cerebral palsyEnrichmentSMARCA41.40
229Bladder cancerEnrichmentARID1A, TSC11.38
230Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.35
231Pseudohypoparathyroidism, type ibEnrichmentGNAS1.35
232Auriculocondylar syndrome 1EnrichmentGNAI31.35
233Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.35
234Carney complex variantEnrichmentPRKAR1A1.35
235Myasthenic syndrome, congenital, 1b, fast-channelEnrichmentCHRNA11.35
236Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.35
237Malonyl-coa decarboxylase deficiencyEnrichmentMLYCD1.35
238Leptin deficiency or dysfunctionEnrichmentLEP1.35
239Achromatopsia 4EnrichmentGNAI31.35
240Neonatal diabetes mellitusEnrichmentINS1.35
241Idiopathic bronchiectasisEnrichmentCFTR1.35
2422p21 microdeletion syndromeEnrichmentPPM1B1.35
243Digenic hemochromatosisEnrichmentTFR21.35
244Familial sick sinus syndromeEnrichmentGNB21.35
245Non-immune hydrops fetalisEnrichmentARID1A, CHRNA11.32
246Capillary malformations, congenitalEnrichmentGNA111.26
247Alzheimer disease 2EnrichmentNOS31.26
248Atrioventricular septal defectEnrichmentSMARCAL11.26
249Familial adenomatous polyposis 1EnrichmentSTK111.26
250Mitochondrial complex iii deficiency, nuclear type 4EnrichmentCOX101.26
251Cox deficiency, infantile mitochondrial myopathyEnrichmentCOX151.26
252Pre-eclampsiaEnrichmentNOS31.26
253Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.26
254DystoniaEnrichmentGNAL, GNB11.23
255Melanoma, uvealEnrichmentGNA111.18
256Type 1 diabetes mellitusEnrichmentINS1.18
257Testicular germ cell tumorEnrichmentSTK111.18
258Familial adult myoclonic epilepsyEnrichmentADRA2B1.18
259KeratoconusEnrichmentTSC11.18
260Adrenocortical carcinomaEnrichmentPRKAR1A1.18
261Breast adenocarcinomaEnrichmentAKT11.18
26246,xy disorder of sex developmentEnrichmentINSR1.18
263Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.12
264MyelofibrosisEnrichmentSRC1.12
265Renal cell carcinoma, papillary, 1EnrichmentMTOR1.12
266BrachydactylyEnrichmentGNAS1.12
267Polycystic kidney disease 1EnrichmentTSC21.12
268MegacolonEnrichmentAKT31.12
269Paroxysmal dystoniaEnrichmentSLC2A11.12
270Benign epilepsy with centrotemporal spikesEnrichmentSLC2A1, STRADA1.11
271Centralopathic epilepsyEnrichmentSLC2A1, STRADA1.07
272Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.06
273Hemochromatosis, type 1EnrichmentTFR21.06
274Multiple pterygium syndrome, lethal typeEnrichmentCHRNA11.06
275Alternating hemiplegia of childhoodEnrichmentSLC2A11.06
276HypothyroidismEnrichmentGNB11.06
277Choreatic diseaseEnrichmentGNAO11.06
278Permanent neonatal diabetes mellitusEnrichmentINS1.06
279Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR1.01
280Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.01
281Myoclonic-atonic epilepsyEnrichmentSLC2A11.01
282Primary hyperaldosteronismEnrichmentGNAS1.01
283Limb-girdle muscular dystrophyEnrichmentHMGCR1.01
284Cowden syndromeEnrichmentAKT11.01
285Ovarian cancerEnrichmentSMARCB11.00
286Autism spectrum disorderEnrichmentSMARCB10.97
287Stroke, ischemicEnrichmentNOS30.97
288Neurodegeneration with brain iron accumulationEnrichmentCRAT0.97
289PolymicrogyriaEnrichmentAKT30.97
290MelanomaEnrichmentSTK110.97
291Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.97
292Leukemia, acute lymphoblasticEnrichmentGNB10.93
293Myelodysplastic syndromeEnrichmentGNB10.93
294Combined immunodeficiencyEnrichmentTFRC0.93
295Movement diseaseEnrichmentGNAO10.93
296Combined t cell and b cell immunodeficiencyEnrichmentTFRC0.93
297Diabetes mellitusEnrichmentINS0.93
298Combined t and b cell immunodeficiencyEnrichmentTFRC0.93
299Septooptic dysplasiaEnrichmentARID1A0.90
300Lip and oral cavity carcinomaEnrichmentSTK110.90
301Acute promyelocytic leukemiaEnrichmentPRKAR1A0.86
302OsteoporosisEnrichmentSRC0.83
303Congenital myasthenic syndromeEnrichmentCHRNA10.83
304Hereditary chronic pancreatitisEnrichmentCFTR0.83
305Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.81
306Atypical hemolytic-uremic syndromeEnrichmentSMARCAL10.81
307Lynch syndromeEnrichmentCFTR0.81
308Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.81
309Kidney diseaseEnrichmentTSC10.81
310Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A0.78
311Wolff-parkinson-white syndromeEnrichmentPRKAG20.78
312Isolated congenital microcephalyEnrichmentSMARCAL10.78
313Alzheimer disease, familial, 1EnrichmentNOS30.76
314Melanoma, cutaneous malignant 1EnrichmentSTK110.76
315Pancreatitis, hereditaryEnrichmentCFTR0.76
316Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.73
317Congenital myopathyEnrichmentCHRNA10.71
318Maturity-onset diabetes of the youngEnrichmentINS0.69
319Focal segmental glomerulosclerosisEnrichmentSMARCAL10.69
320Breast cancerEnrichmentAKT1, GNG30.68
321Centronuclear myopathyEnrichmentCHRNA10.67
322Attention deficit-hyperactivity disorderEnrichmentGNB50.66
323MalariaEnrichmentNOS20.64
324Congenital stationary night blindnessEnrichmentGNB30.64
325Non-syndromic male infertility due to sperm motility disorderEnrichmentAK70.64
326Pancreatic cancerEnrichmentSTK110.61
327Cystic fibrosisEnrichmentCFTR0.52
328Peripheral nervous system diseaseEnrichmentCOX6A10.52
329NeuropathyEnrichmentCOX6A10.52
330Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.51
331Severe combined immunodeficiencyEnrichmentAK20.51
332Male infertilityEnrichmentCFTR0.49
333Developmental and epileptic encephalopathyEnrichmentGNAO10.47
334EpilepsyEnrichmentSLC2A10.44
335Gastric cancerEnrichmentSTK110.41
336Nephrotic syndromeEnrichmentSMARCAL10.41
337Hypertrophic cardiomyopathyEnrichmentPRKAG20.41
338Hereditary breast carcinomaEnrichmentAKT10.41
339Complex neurodevelopmental disorderEnrichmentGNB2, PPP2CA0.39
340ThrombocytopeniaEnrichmentSRC0.38
341Body mass index quantitative trait locus 11EnrichmentGNAS0.36
342Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB10.36
343Myeloma, multipleEnrichmentPIK3R20.33
344Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.33
345Primary ovarian insufficiencyEnrichmentNOS30.31
346Leigh syndrome, nuclearEnrichmentCOX150.26
347AutismEnrichmentCHRNA10.25
348Leigh diseaseEnrichmentCOX150.24
349Primary ciliary dyskinesiaEnrichmentPRKAR1B0.24

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