HIF-2-alpha transcription factor network

No Pathway Network information available for HIF-2-alpha transcription factor network

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

Disorders associated with HIF-2-alpha transcription factor network SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autosomal dominant secondary polycythemiaEnrichmentEPAS1, EPO4.15
2Sporadic pheochromocytoma/secreting paragangliomaEnrichmentEPAS1, VHL4.15
3Tetralogy of fallotEnrichmentCITED2, KDR2.83
4Phosphoglycerate kinase 1 deficiencyEnrichmentPGK12.66
5Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A12.66
6Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG22.66
7Microvascular complications of diabetes 2EnrichmentEPO2.66
8Anemia, hypochromic microcytic, with iron overload 1EnrichmentSLC11A22.66
9Winchester syndromeEnrichmentMMP142.66
10Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.66
11Microvascular complications of diabetes 1EnrichmentVEGFA2.66
12Erythrocytosis, familial, 4EnrichmentEPAS12.66
13Epilepsy, idiopathic generalized 12EnrichmentSLC2A12.66
14Atrial septal defect 8EnrichmentCITED22.66
15Blood group, junior systemEnrichmentABCG22.66
16Erythrocytosis, familial, 5EnrichmentEPO2.66
17Tufted angioma of skinEnrichmentKDR2.66
18Sinus venosus atrial septal defectEnrichmentCITED22.66
19Multiple paragangliomas associated with polycythemiaEnrichmentEPAS12.66
20Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A2.66
21Epilepsy with myoclonic absencesEnrichmentSLC2A12.66
22Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.66
23Male infertility due to obstructive azoospermiaEnrichmentPGK12.66
24Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A12.66
25Retinal hemangioblastomaEnrichmentVHL2.66
26Robinow-sorauf syndromeEnrichmentTWIST12.35
27Dystonia 9EnrichmentSLC2A12.35
28Glut1 deficiency syndrome 1EnrichmentSLC2A12.35
29Angioma, tuftedEnrichmentKDR2.35
30Diamond-blackfan anemia-likeEnrichmentEPO2.35
31Sweeney-cox syndromeEnrichmentTWIST12.35
32Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A12.35
33Erythrocytosis, familial, 3EnrichmentEPAS12.35
34Ventricular septal defect 2EnrichmentCITED22.35
35Acute leukemia of ambiguous lineageEnrichmentVHL2.35
36Non-syndromic sagittal craniosynostosisEnrichmentTWIST12.35
37Craniosynostosis 1EnrichmentTWIST12.18
38Jacobsen syndromeEnrichmentETS12.18
39Friedreich ataxiaEnrichmentFXN2.18
40Myasthenic syndrome, congenital, 6, presynapticEnrichmentVHL2.18
41Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP142.18
42Glut1 deficiency syndrome 2EnrichmentSLC2A12.18
43Primary polycythemiaEnrichmentVHL2.18
44Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A12.18
45Erythrocytosis, familial, 2EnrichmentVHL2.05
46Saethre-chotzen syndromeEnrichmentTWIST12.05
47Au-kline syndromeEnrichmentVHL2.05
48Non-syndromic bicoronal craniosynostosisEnrichmentTWIST12.05
49Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE12.05
50Fanconi anemia, complementation group d2EnrichmentVHL1.96
51Von hippel-lindau syndromeEnrichmentVHL1.96
52Pre-eclampsiaEnrichmentFLT11.96
53Hemangioma, capillary infantileEnrichmentKDR1.88
54Renal cell carcinoma, papillary, 1EnrichmentVHL1.81
55Multiple enchondromatosis, maffucci typeEnrichmentVHL1.81
56Paroxysmal dystoniaEnrichmentSLC2A11.81
57Alternating hemiplegia of childhoodEnrichmentSLC2A11.76
58Myoclonic-atonic epilepsyEnrichmentSLC2A11.70
59PheochromocytomaEnrichmentVHL1.52
60Renal cell carcinoma, nonpapillaryEnrichmentVHL1.49
61Patent foramen ovaleEnrichmentCITED21.41
62Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentVHL1.34
63Developmental and epileptic encephalopathy 1EnrichmentSLC2A11.27
64StrabismusEnrichmentSLC2A11.24
65Visceral heterotaxy 5EnrichmentCITED21.18
66Fanconi anemia, complementation group aEnrichmentVHL1.13
67Systemic lupus erythematosusEnrichmentETS11.08
68EpilepsyEnrichmentSLC2A11.07
69Benign epilepsy with centrotemporal spikesEnrichmentSLC2A11.06
70Centralopathic epilepsyEnrichmentSLC2A11.04
71West syndromeEnrichmentSLC2A11.03
72Primary ovarian insufficiencyEnrichmentKDR0.91
73MicrocephalyEnrichmentSLC2A10.62
74Inherited cancer-predisposing syndromeEnrichmentVHL0.59

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