Nuclear receptors meta-pathway

No Pathway Network information available for Nuclear receptors meta-pathway

Pathways in the Nuclear receptors meta-pathway SuperPath

#NameSourceGenes
1Nuclear receptors meta-pathwayWikiPathways
(see all 315) (see less)
2NRF2 pathwayWikiPathways

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

Disorders associated with Nuclear receptors meta-pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Crigler-najjar syndrome, type iEnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.56
2Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.56
3Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.56
4Crigler-najjar syndrome, type iiEnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.56
5Gilbert syndromeEnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.30
6Bilirubin metabolic disorderEnrichmentUGT1A1, UGT1A4, UGT1A6, UGT1A7, UGT1A97.30
7Cystic fibrosisEnrichmentGCLC, GSTM3, HMOX1, SERPINA1, SLC6A14, TGFB16.08
8IminoglycinuriaEnrichmentSLC6A18, SLC6A19, SLC6A205.36
9Pulmonary disease, chronic obstructiveEnrichmentHMOX1, MGST1, MGST3, SERPINA1, VDR5.14
10Intrahepatic cholestasis of pregnancyEnrichmentABCB11, ABCB4, NR1H44.31
11Cholestasis, progressive familial intrahepatic, 3EnrichmentABCB11, ABCB43.27
12Gallbladder disease 4EnrichmentABCG5, ABCG83.27
13Cholestasis, intrahepatic, of pregnancy 3EnrichmentABCB11, ABCB43.27
14Intrahepatic cholestasisEnrichmentABCB11, ABCB43.27
15Renal glucosuriaEnrichmentSLC5A1, SLC5A23.20
16Tobacco addictionEnrichmentCYP2A6, SLC6A33.20
17Coronary heart disease 5EnrichmentABCG5, ABCG8, G6PD3.03
18Coumarin resistanceEnrichmentCYP2A6, CYP2C92.80
19Sitosterolemia 1EnrichmentABCG5, ABCG82.80
20SitosterolemiaEnrichmentABCG5, ABCG82.80
21Migraine without auraEnrichmentESR1, TNF2.80
22Myoclonic-atonic epilepsyEnrichmentSLC2A1, SLC6A12.43
23Loeys-dietz syndromeEnrichmentTGFB2, TGFBR22.43
24Marfan syndromeEnrichmentTGFB2, TGFBR22.34
25Cholestasis, progressive familial intrahepatic, 1EnrichmentABCB4, NR1H42.12
26Lipid metabolism disorderEnrichmentABCG5, ABCG82.12
27Familial hypercholanemiaEnrichmentBAAT, SLC10A12.12
28Neuronopathy, distal hereditary motor, autosomal dominant 7EnrichmentSLC5A71.98
29Paget disease of bone 3EnrichmentSQSTM11.98
30Hyperostosis cranialis internaEnrichmentSLC39A141.98
31Acrodermatitis enteropathica, zinc-deficiency typeEnrichmentSLC39A41.98
32Thyroid dyshormonogenesis 1EnrichmentSLC5A51.98
33Ehlers-danlos syndrome, spondylodysplastic type, 3EnrichmentSLC39A131.98
34Deafness, autosomal recessive 39EnrichmentHGF1.98
35Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.98
36Neurodegeneration with brain iron accumulation 3EnrichmentFTL1.98
37Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.98
38Hypotaurinemic retinal degeneration and cardiomyopathyEnrichmentSLC6A61.98
39GlutathionuriaEnrichmentGGT11.98
40Anemia, congenital, nonspherocytic hemolytic, 7EnrichmentGCLC1.98
41Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR1.98
42Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM11.98
43Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM11.98
44Drug metabolism, altered, ces1-relatedEnrichmentCES11.98
45Agammaglobulinemia 9, autosomal recessiveEnrichmentSLC39A71.98
46Intellectual developmental disorder, x-linked 110EnrichmentFGF131.98
47Cerebral creatine deficiency syndrome 1EnrichmentSLC6A81.98
48Immunodeficiency, developmental delay, and hypohomocysteinemiaEnrichmentNFE2L21.98
49Acrodermatitis enteropathicaEnrichmentSLC39A41.98
50Glucose/galactose malabsorptionEnrichmentSLC5A11.98
51Developmental and epileptic encephalopathy 90EnrichmentFGF131.98
52Peripheral motor neuropathy, childhood-onset, biotin-responsiveEnrichmentSLC5A61.98
53Camurati-engelmann disease 2EnrichmentTGFB21.98
54Parkinsonism-dystonia 1, infantile-onsetEnrichmentSLC6A31.98
55Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.98
56Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.98
57L-ferritin deficiencyEnrichmentFTL1.98
58Hyperekplexia 3EnrichmentSLC6A51.98
59Intellectual developmental disorder, autosomal recessive 48EnrichmentSLC6A171.98
60Myopia 24, autosomal dominantEnrichmentSLC39A51.98
61Alpha-1-antitrypsin deficiencyEnrichmentSERPINA11.98
62Heme oxygenase 1 deficiencyEnrichmentHMOX11.98
63Hypermanganesemia with dystonia 2EnrichmentSLC39A141.98
64Sodium-dependent multivitamin transporter deficiencyEnrichmentSLC5A61.98
65Glycine encephalopathy with normal serum glycineEnrichmentSLC6A91.98
66Postural orthostatic tachycardia syndromeEnrichmentSLC6A21.98
67Classic dopamine transporter deficiency syndromeEnrichmentSLC6A31.98
68Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutationEnrichmentSERPINA11.98
69Genetic hyperferritinemia without iron overloadEnrichmentFTL1.98
70Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.98
71Epilepsy with myoclonic absencesEnrichmentSLC2A11.98
72Parkinsonism-dystonia, infantileEnrichmentSLC6A31.98
73Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.98
74Letrozole toxicityEnrichmentCYP2A61.98
75Progressive familial intrahepatic cholestasisEnrichmentABCB11, ABCB41.98
76Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSLC2A10, TGFB2, TGFBR21.97
77Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG81.86
78Myocardial infarctionEnrichmentESR1, GCLC, GCLM1.86
79Ehlers-danlos syndromeEnrichmentTGFB2, TGFBR21.79
80HyperglycinuriaEnrichmentSLC6A191.68
81Camurati-engelmann disease 1EnrichmentTGFB11.68
82Fanconi-bickel syndromeEnrichmentSLC2A21.68
83VitreoretinochoroidopathyEnrichmentFTH11.68
84Dystonia 9EnrichmentSLC2A11.68
85Dermatofibrosarcoma protuberansEnrichmentPDGFB1.68
86Loeys-dietz syndrome 2EnrichmentTGFBR21.68
87Welander distal myopathyEnrichmentSQSTM11.68
88Microvascular complications of diabetes 5EnrichmentTGFBR21.68
89Glut1 deficiency syndrome 1EnrichmentSLC2A11.68
90Obsessive-compulsive disorderEnrichmentSLC6A41.68
91Retinitis pigmentosa 50EnrichmentFTH11.68
92Hypouricemia, renal, 2EnrichmentSLC2A91.68
93Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentKEAP11.68
94Hartnup disorderEnrichmentSLC6A191.68
95Hyperferritinemia with or without cataractEnrichmentFTL1.68
96Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.68
97Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.68
98Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.68
99Kala-azar 2EnrichmentGSTP11.68
100Hemochromatosis, type 5EnrichmentFTH11.68
101Myasthenic syndrome, congenital, 20, presynapticEnrichmentSLC5A71.68
102Camurati-engelmann diseaseEnrichmentTGFB11.68
103Fibrolamellar carcinomaEnrichmentDNAJB11.68
104Congenital hemolytic anemiaEnrichmentG6PD1.68
105Loeys-dietz syndrome 4EnrichmentTGFB21.68
106Familial renal hypouricemiaEnrichmentSLC2A91.68
107Paget's disease of boneEnrichmentSQSTM11.68
108Slc6a1-related neurodevelopmental disorderEnrichmentSLC6A11.68
109Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD1.68
110Distal hereditary motor neuropathy type 7EnrichmentSLC5A71.68
111Neurodegeneration with brain iron accumulation 9EnrichmentFTH11.68
112Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.68
113Diastrophic dysplasiaEnrichmentSLC26A21.63
114Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A1.63
115Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK11.63
116Drug metabolism, poor, cyp2c19-relatedEnrichmentCYP2C191.63
117Atelosteogenesis, type iiEnrichmentSLC26A21.63
118Melanoma, cutaneous malignant 3EnrichmentCDK41.63
119Hemolytic uremic syndrome, atypical 6EnrichmentTHBD1.63
120Colchicine resistanceEnrichmentABCB11.63
121Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A1.63
122Mucoepithelial dysplasia, hereditaryEnrichmentSREBF11.63
123Epiphyseal dysplasia, multiple, 4EnrichmentSLC26A21.63
124Glucocorticoid resistance, generalizedEnrichmentNR3C11.63
125Charcot-marie-tooth disease, demyelinating, type 4hEnrichmentFGD41.63
126Acyl-coa dehydrogenase, medium-chain, deficiency ofEnrichmentACADM1.63
127Retinitis pigmentosa 85EnrichmentAHR1.63
128Gallbladder disease 1EnrichmentABCB41.63
129Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalitiesEnrichmentNAV31.63
130Fanconi renotubular syndrome 3EnrichmentEHHADH1.63
131Immunodeficiency 69EnrichmentIFNG1.63
132Peroxisomal acyl-coa oxidase deficiencyEnrichmentACOX11.63
133Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linkedEnrichmentSRPX21.63
134Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.63
135Cardiomyopathy, dilated, 2iEnrichmentCAP21.63
136Charcot-marie-tooth disease, demyelinating, type 1gEnrichmentPMP21.63
137Encephalopathy, acute transientEnrichmentABCB11.63
138Mitchell syndromeEnrichmentACOX11.63
139Liddle syndrome 3EnrichmentSCNN1A1.63
140Foveal hypoplasia 3EnrichmentAHR1.63
141Ifap syndrome 2EnrichmentSREBF11.63
142T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.63
143Angioedema, hereditary, 7EnrichmentMYOF1.63
144Achondrogenesis, type ibEnrichmentSLC26A21.63
145Familial apolipoprotein a5 deficiencyEnrichmentAPOA51.63
146Charcot-marie-tooth disease type 4hEnrichmentFGD41.63
147Hypercholanemia, familial, 2EnrichmentSLC10A11.63
148Inflammatory bowel disease 13EnrichmentABCB11.63
149Charcot-marie-tooth disease type 1gEnrichmentPMP21.63
150Neuroendocrine tumorEnrichmentCDKN1B1.63
151Agammaglobulinemia 5, autosomal dominantEnrichmentLRRC8A1.63
152Efavirenz, poor metabolism ofEnrichmentCYP2B61.63
153Apolipoprotein c-iii deficiencyEnrichmentAPOC31.63
154Thrombophilia due to thrombomodulin defectEnrichmentTHBD1.63
155Plasma triglyceride level quantitative trait locusEnrichmentANGPTL41.63
156Immunodeficiency 29EnrichmentIL12B1.63
157Oculomotor-abducens synkinesisEnrichmentACKR31.63
158Leukoencephalopathy with dystonia and motor neuropathyEnrichmentSCP21.63
159Cholestasis, progressive familial intrahepatic, 5EnrichmentNR1H41.63
160Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.63
161Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP11.63
162Thrombocytopenia 6EnrichmentSRC1.63
163Vitamin d-dependent rickets, type 3EnrichmentCYP3A41.63
164Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.63
165Hypercholanemia, familial 3EnrichmentBAAT1.63
166Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyEnrichmentCYP7A11.63
167Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.63
168RicketsEnrichmentVDR1.63
169Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.63
170Medium-chain acyl-coenzyme a dehydrogenase deficiencyEnrichmentACADM1.63
171Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeEnrichmentCDKN1C1.63
172Aapoaii amyloidosisEnrichmentAPOA21.63
173Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.63
174AsthmaEnrichmentFKBP5, TNF1.59
175Arterial tortuosity syndromeEnrichmentSLC2A101.51
176Dubin-johnson syndromeEnrichmentABCC21.51
177Intellectual developmental disorder, x-linked 109EnrichmentSERPINA11.51
178Glut1 deficiency syndrome 2EnrichmentSLC2A11.51
179Congenital disorder of glycosylation, type iinEnrichmentSLC39A81.51
180Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.51
181Familial renal glucosuriaEnrichmentSLC5A21.51
182Loeys-dietz syndrome 1EnrichmentTGFBR21.51
183Developmental and epileptic encephalopathy 94EnrichmentSLC6A11.51
184Lung cancerEnrichmentCYP2A6, EGFR, NFE2L21.43
185Huntington diseaseEnrichmentSLC2A31.39
186Paget disease of bone 2, early-onsetEnrichmentSQSTM11.39
187Bestrophinopathy, autosomal recessiveEnrichmentFTH11.39
188Paget's disease of bone 2EnrichmentSQSTM11.39
189Atypical glycine encephalopathyEnrichmentSLC6A91.39
190Burkitt lymphomaEnrichmentMYC1.34
191Hyperlipoproteinemia, type vEnrichmentAPOA51.34
192Glaucoma 1, open angle, aEnrichmentCYP1B11.34
193Galactosemia iiEnrichmentNR3C11.34
194Thiamine-responsive megaloblastic anemia syndromeEnrichmentSLC19A21.34
195Carnitine palmitoyltransferase ii deficiency, infantileEnrichmentCPT21.34
196Cornelia de lange syndrome 2EnrichmentSMC1A1.34
1973mc syndrome 2EnrichmentSLC26A21.34
198Piebald traitEnrichmentSNAI21.34
199Carnitine palmitoyltransferase ii deficiency, lethal neonatalEnrichmentCPT21.34
200Cholestasis, benign recurrent intrahepatic, 2EnrichmentABCB111.34
201Holoprosencephaly 5EnrichmentZIC21.34
202Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesEnrichmentCDKN1C1.34
203Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic faciesEnrichmentPOLK1.34
204Cholestasis, progressive familial intrahepatic, 4EnrichmentABCB111.34
205Carnitine palmitoyltransferase i deficiencyEnrichmentCPT1A1.34
206Immunodeficiency, common variable, 10EnrichmentNFKB21.34
207Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.34
208Carnitine palmitoyltransferase ii deficiency, myopathic, stress-inducedEnrichmentCPT21.34
209Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.34
210Anterior segment dysgenesis 6EnrichmentCYP1B11.34
211Encephalopathy, acute, infection-induced 4EnrichmentCPT21.34
212Cholestasis, progressive familial intrahepatic, 2EnrichmentABCB111.34
213Sitosterolemia 2EnrichmentABCG51.34
214Menke-hennekam syndrome 2EnrichmentEP3001.34
215Immunodeficiency 127EnrichmentTNF1.34
216Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG51.34
217AcromegalyEnrichmentAIP1.34
218Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA11.34
219Amyloidosis, hereditary systemic 3EnrichmentAPOA11.34
220Rolandic epilepsy-speech dyspraxia syndromeEnrichmentSRPX21.34
221Primary congenital glaucomaEnrichmentCYP1B11.34
222Null pituitary adenomaEnrichmentAIP1.34
223Acute necrotizing encephalopathy of childhoodEnrichmentCPT21.34
224Familial isolated pituitary adenomaEnrichmentAIP1.34
225Silent pituitary adenomaEnrichmentAIP1.34
226PseudohypoaldosteronismEnrichmentSCNN1A1.34
227GigantismEnrichmentAIP1.34
228Cataract 6, multiple typesEnrichmentEPHA21.29
229Macular dystrophy, vitelliform, 2EnrichmentFTH11.29
230Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD1.29
231Megalencephalic leukoencephalopathy with subcortical cysts 1EnrichmentGSTT21.29
232HyperekplexiaEnrichmentSLC6A51.29
233AniridiaEnrichmentEPHA21.29
234Rare isolated myopiaEnrichmentSLC39A51.29
235Colorectal cancerEnrichmentBAX, CCND1, EP300, NFE2L2, SRC1.29
236Atrial septal defect 1EnrichmentTGFB21.22
237Pseudoxanthoma elasticumEnrichmentABCC21.22
238AnxietyEnrichmentSLC6A41.22
239Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.22
240Familial thyroid dyshormonogenesisEnrichmentSLC5A51.22
241KeratoconusEnrichmentALDH3A11.22
242Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.22
243Human immunodeficiency virus type 1EnrichmentCCL2, IFNG1.19
244Semilobar holoprosencephalyEnrichmentSMC1A, ZIC21.19
245Benign epilepsy with centrotemporal spikesEnrichmentSLC2A1, SLC6A11.17
246Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.17
247Hyperalphalipoproteinemia 1EnrichmentAPOC31.17
248Liddle syndrome 1EnrichmentSCNN1A1.17
249Hyperbilirubinemia, rotor typeEnrichmentSLCO1B11.17
250Takayasu arteritisEnrichmentIL12B1.17
251D-bifunctional protein deficiencyEnrichmentEHHADH1.17
252Tuberous sclerosis 1EnrichmentIFNG1.17
253Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF11.17
254Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A1.17
255Psoriatic arthritisEnrichmentTNF1.17
256Hepatitis c virusEnrichmentIFNG1.17
257Estrogen resistanceEnrichmentESR11.17
258Tuberous sclerosis 2EnrichmentIFNG1.17
259Pituitary adenoma 1, multiple typesEnrichmentAIP1.17
260Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.17
261Hypoalphalipoproteinemia, primary, 2EnrichmentAPOA11.17
262Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.17
263Hyper ige syndromeEnrichmentSTAT31.17
264High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.17
265Dedifferentiated liposarcomaEnrichmentCDK41.17
266T-cell acute lymphoblastic leukemiaEnrichmentBAX1.17
267Growth hormone secreting pituitary adenomaEnrichmentAIP1.17
268Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA11.17
269Aip familial isolated pituitary adenomasEnrichmentAIP1.17
270Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.17
271Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK11.17
272Well-differentiated liposarcomaEnrichmentCDK41.17
273Type 2 diabetes mellitusEnrichmentSLC2A2, SLC2A41.15
274Esophageal cancerEnrichmentTGFBR21.15
275Retinal degenerationEnrichmentSLC6A61.15
276MegacolonEnrichmentSLC6A61.15
277Paroxysmal dystoniaEnrichmentSLC2A11.15
278Diffuse large b-cell lymphomaEnrichmentFOXO1, STAT31.15
279Centralopathic epilepsyEnrichmentSLC2A1, SLC6A11.13
280Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB1.10
281Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentPRDX11.10
282Orthostatic intoleranceEnrichmentSLC6A21.10
283Glycine encephalopathy 1EnrichmentSLC6A91.10
284Alternating hemiplegia of childhoodEnrichmentSLC2A11.10
285Early-onset posterior polar cataractEnrichmentEPHA21.10
286Hypertriglyceridemia 1EnrichmentAPOA51.05
287Glaucoma 3, primary infantile, bEnrichmentCYP1B11.05
288Hypoalphalipoproteinemia, primary, 1EnrichmentAPOA11.05
289Immunodeficiency, common variable, 1EnrichmentNFKB21.05
290Mantle cell lymphomaEnrichmentCCND11.05
291Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.05
292ProlactinomaEnrichmentAIP1.05
293Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentACADM1.05
294Idiopathic bronchiectasisEnrichmentSCNN1A1.05
295Coronary artery anomalyEnrichmentAPOC31.05
296Cerebral malariaEnrichmentTNF1.05
297Silver-russell syndrome due to a point mutationEnrichmentCDKN1C1.05
298Primary hyperparathyroidismEnrichmentCDKN1B1.05
299Primary fanconi renotubular syndromeEnrichmentEHHADH1.05
300Hereditary angioedema with normal c1inh not related to f12 or plg variantEnrichmentMYOF1.05
301Behavioral variant of frontotemporal dementiaEnrichmentSQSTM11.05
302MalariaEnrichmentG6PD, TNF1.01
303Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM11.00
304Meningioma, familialEnrichmentPDGFB0.96
305Presynaptic congenital myasthenic syndromesEnrichmentSLC5A70.96
306Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC30.96
307Amyloidosis, hereditary systemic 2EnrichmentAPOA10.96
308Von hippel-lindau syndromeEnrichmentCCND10.96
309Vitamin d-dependent rickets, type 2aEnrichmentVDR0.96
310Rhabdomyosarcoma 2EnrichmentFOXO10.96
311Major depressive disorderEnrichmentFKBP50.96
312Rubinstein-taybi syndrome 2EnrichmentEP3000.96
313HoloprosencephalyEnrichmentZIC20.96
314Juvenile glaucomaEnrichmentCYP1B10.96
315Vascular dementiaEnrichmentTNF0.96
316Idiopathic aplastic anemiaEnrichmentIFNG0.96
317Familial cerebral saccular aneurysmEnrichmentTGFBR30.96
318Congenital hypothyroidismEnrichmentSLC5A50.93
319MeningiomaEnrichmentPDGFB0.93
320Congenital long qt syndromeEnrichmentSLC2A20.93
321Glaucoma, primary open angleEnrichmentCYP1B10.88
322Cowden syndrome 1EnrichmentEGFR0.88
323Rubinstein-taybi syndrome 1EnrichmentEP3000.88
324Holoprosencephaly 1EnrichmentZIC20.88
325Wiedemann-steiner syndromeEnrichmentSMC1A0.88
326Anterior segment dysgenesis 5EnrichmentCYP1B10.88
327Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3000.88
328Lung squamous cell carcinomaEnrichmentEGFR0.88
329Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentTHBD0.88
330Generalized epilepsy with febrile seizures plusEnrichmentFGF130.87
331CataractEnrichmentEPHA20.87
332Lynch syndromeEnrichmentTGFBR20.84
333Multiple endocrine neoplasia, type iEnrichmentCDKN1B0.82
334Glaucoma 3, primary congenital, aEnrichmentCYP1B10.82
335MyelofibrosisEnrichmentSRC0.82
336Squamous cell carcinoma, head and neckEnrichmentEGFR0.82
337Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSRPX20.82
338Waardenburg syndrome, type 2eEnrichmentSNAI20.82
339Common variable immunodeficiencyEnrichmentNFKB20.82
340Cataract 44EnrichmentEPHA20.79
341Connective tissue diseaseEnrichmentSLC26A2, TGFBR20.77
342Rett syndrome, congenital variantEnrichmentSMC1A0.77
343Permanent neonatal diabetes mellitusEnrichmentSTAT30.77
344Childhood-onset schizophreniaEnrichmentGPR1530.77
345Early-onset nuclear cataractEnrichmentEPHA20.77
346Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentSLC5A70.74
347Cornelia de lange syndrome 1EnrichmentSMC1A0.72
348Charge syndromeEnrichmentEP3000.72
349Bilateral perisylvian polymicrogyriaEnrichmentSRPX20.72
350Primary hyperaldosteronismEnrichmentNR3C10.72
351Primary biliary cholangitisEnrichmentIL12A0.72
352Cornelia de lange syndromeEnrichmentSMC1A0.72
353Tooth agenesisEnrichmentTGFA0.69
354Leukemia, chronic lymphocyticEnrichmentCCND10.68
355Peters-plus syndromeEnrichmentCYP1B10.68
356Stroke, ischemicEnrichmentALOX5AP0.68
357Aplastic anemiaEnrichmentIFNG0.68
358Autosomal non-syndromic agammaglobulinemiaEnrichmentLRRC8A0.68
359Migraine with or without aura 1EnrichmentESR10.64
360Epilepsy, idiopathic generalizedEnrichmentABCB10.64
361OsteochondrodysplasiaEnrichmentSLC26A20.64
362Lung non-small cell carcinomaEnrichmentEGFR0.64
363Systemic lupus erythematosusEnrichmentTNF, TNFAIP30.64
364Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.64
365Lip and oral cavity carcinomaEnrichmentEGFR0.61
366StrabismusEnrichmentSLC2A10.61
367Breast cancerEnrichmentESR1, IL2, JUN0.60
368Hypercholesterolemia, familial, 1EnrichmentAPOA20.58
369Acute promyelocytic leukemiaEnrichmentSTAT30.58
370Alzheimer's diseaseEnrichmentTNF0.58
371Gastric cancerEnrichmentCDK4, IL1B0.58
372Long qt syndrome 1EnrichmentSLC2A20.57
373Multiple sclerosisEnrichmentNR1H30.55
374OsteoporosisEnrichmentSRC0.55
375Lung cancer susceptibility 3EnrichmentEGFR0.55
376Polydactyly, postaxial, type a1EnrichmentEP3000.53
377Anterior segment dysgenesisEnrichmentCYP1B10.53
378Familial hypercholesterolemiaEnrichmentAPOA20.53
379Rare genetic intellectual disabilityEnrichmentEP3000.53
380Septopreoptic holoprosencephalyEnrichmentZIC20.53
381Midline interhemispheric variant of holoprosencephalyEnrichmentZIC20.53
382Sensorineural hearing lossEnrichmentHGF, SLC19A20.51
383ThrombocytopeniaEnrichmentSRC, THBD0.51
384GliosarcomaEnrichmentEGFR0.50
385Microform holoprosencephalyEnrichmentZIC20.50
386Lobar holoprosencephalyEnrichmentZIC20.50
387MicrocephalyEnrichmentEP300, SLC2A1, SMC1A, ZIC20.49
388Body mass index quantitative trait locus 11EnrichmentNR0B2, SLC6A140.49
389Hypertension, essentialEnrichmentCYP3A50.48
390Melanoma, cutaneous malignant 1EnrichmentCDK40.48
391Giant cell glioblastomaEnrichmentEGFR0.48
392Alobar holoprosencephalyEnrichmentZIC20.48
393EpilepsyEnrichmentSLC2A10.47
394Beckwith-wiedemann syndromeEnrichmentCDKN1C0.46
395Charcot-marie-tooth disease type 4EnrichmentFGD40.46
396Familial isolated dilated cardiomyopathyEnrichmentANKRD1, CAP20.46
397Arteriovenous malformations of the brainEnrichmentEGFR0.44
398Behcet syndromeEnrichmentIL12A0.44
399Inherited cancer-predisposing syndromeEnrichmentAIP, CDK4, CDKN1B, EGFR0.43
400West syndromeEnrichmentSLC2A10.43
401Myeloma, multipleEnrichmentCCND1, RXRA0.43
402Williams-beuren syndromeEnrichmentCDKN1C0.43
403Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPPARGC1A, SQSTM10.41
404Hepatocellular carcinomaEnrichmentVDR0.39
405Autosomal dominant non-syndromic intellectual disabilityEnrichmentSLC6A10.39
406Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.38
407Ear malformationEnrichmentSLC19A20.37
408Congenital nervous system abnormalityEnrichmentCPT2, SMC1A, ZIC20.35
409Nervous system diseaseEnrichmentCPT2, SMC1A, ZIC20.35
410Brugada syndromeEnrichmentSCNN1A0.34
411Bladder cancerEnrichmentEGFR0.31
412Hirschsprung disease 1EnrichmentSREBF10.31
413Prostate cancerEnrichmentPOLK0.31
414Peripheral nervous system diseaseEnrichmentPMP20.28
415NeuropathyEnrichmentPMP20.28
416Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG50.27
417CakutEnrichmentNRIP10.26
418Non-syndromic x-linked intellectual disabilityEnrichmentSMARCA10.24
419Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF0.22
420Hereditary breast carcinomaEnrichmentESR10.19
421Ovarian cancerEnrichmentCDKN1B, EGFR0.16
422Hereditary breast ovarian cancer syndromeEnrichmentPLK20.14
423Hereditary retinal dystrophyEnrichmentFTH1, SLC6A60.09
424Fundus dystrophyEnrichmentFTH1, SLC6A60.09
425Retinitis pigmentosaEnrichmentAHR0.00

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