HIF-1-alpha transcription factor network

No Pathway Network information available for HIF-1-alpha transcription factor network

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

Disorders associated with HIF-1-alpha transcription factor network SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Maturity-onset diabetes of the young, type 1EnrichmentGCK, HNF4A4.65
2Maturity-onset diabetes of the young, type 3EnrichmentGCK, HNF4A3.87
3Generalized juvenile polyposis/juvenile polyposis coliEnrichmentENG, SMAD43.65
4Autosomal dominant secondary polycythemiaEnrichmentEGLN1, EPO3.48
5Hereditary hemorrhagic telangiectasiaEnrichmentENG, SMAD43.33
6Leukemia, acute myeloidEnrichmentGATA2, NPM1, TERT3.04
7MeningiomaEnrichmentAKT1, TERT2.84
8Dyskeratosis congenitaEnrichmentNPM1, TERT2.44
9Maturity-onset diabetes of the youngEnrichmentGCK, HNF4A2.39
10Proteus syndromeEnrichmentAKT12.32
11Calcification of joints and arteriesEnrichmentNT5E2.32
12Anemia, congenital, nonspherocytic hemolytic, 5EnrichmentHK12.32
13Phosphoglycerate kinase 1 deficiencyEnrichmentPGK12.32
14AceruloplasminemiaEnrichmentCP2.32
15Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A12.32
16Maturity-onset diabetes of the young, type 2EnrichmentGCK2.32
17Colchicine resistanceEnrichmentABCB12.32
18Short sleep, familial natural, 1EnrichmentBHLHE412.32
19Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG22.32
20Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.32
21Microvascular complications of diabetes 2EnrichmentEPO2.32
22Whim syndrome 1EnrichmentCXCR42.32
23Retinitis pigmentosa 79EnrichmentHK12.32
24AtransferrinemiaEnrichmentTF2.32
25Auriculocondylar syndrome 3EnrichmentEDN12.32
26Encephalopathy, acute transientEnrichmentABCB12.32
27Lymphedema, primary, with myelodysplasiaEnrichmentGATA22.32
28Hemoglobin, high altitude adaptationEnrichmentEGLN12.32
29Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.32
30Hyperinsulinemic hypoglycemia, familial, 3EnrichmentGCK2.32
31Microvascular complications of diabetes 1EnrichmentVEGFA2.32
32Inflammatory bowel disease 13EnrichmentABCB12.32
33Question mark ears, isolatedEnrichmentEDN12.32
34Neuropathy, hereditary motor and sensory, russe typeEnrichmentHK12.32
35Neurodevelopmental disorder with visual defects and brain anomaliesEnrichmentHK12.32
36Immunodeficiency 21EnrichmentGATA22.32
37Epilepsy, idiopathic generalized 12EnrichmentSLC2A12.32
38Cowden syndrome 6EnrichmentAKT12.32
39Immunodeficiency 46EnrichmentTFRC2.32
40Atrial septal defect 8EnrichmentCITED22.32
41Blood group, junior systemEnrichmentABCG22.32
42Heme oxygenase 1 deficiencyEnrichmentHMOX12.32
43Erythrocytosis, familial, 5EnrichmentEPO2.32
44Deafness-lymphedema-leukemia syndromeEnrichmentGATA22.32
45Autosomal recessive dyskeratosis congenita 4EnrichmentTERT2.32
46Heritable thoracic aortic diseaseEnrichmentSMAD42.32
47Gestational diabetesEnrichmentGCK2.32
48Sinus venosus atrial septal defectEnrichmentCITED22.32
49Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.32
50Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM12.32
51Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM12.32
52Epilepsy with myoclonic absencesEnrichmentSLC2A12.32
53Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.32
54Male infertility due to obstructive azoospermiaEnrichmentPGK12.32
55Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A12.32
56Leukocyte adhesion deficiency, type iEnrichmentITGB22.02
57Myhre syndromeEnrichmentSMAD42.02
58Fanconi-bickel syndromeEnrichmentLDHA2.02
59Dystonia 9EnrichmentSLC2A12.02
60Pulmonary arteriovenous fistulasEnrichmentENG2.02
61Histiocytoma, angiomatoid fibrousEnrichmentCREB12.02
62Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.02
63Glut1 deficiency syndrome 1EnrichmentSLC2A12.02
64Protoporphyria, erythropoietic, 1EnrichmentFECH2.02
65Diabetes mellitus, permanent neonatal, 1EnrichmentGCK2.02
66Leukocyte adhesion deficiency, type iiiEnrichmentITGB22.02
67Bone marrow failure syndrome 2EnrichmentGCK2.02
68Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT2.02
69Congenital disorder of glycosylation, type itEnrichmentPGM12.02
70Loeys-dietz syndrome 3EnrichmentSMAD32.02
71Hermansky-pudlak syndrome 3EnrichmentCP2.02
72Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG12.02
73Diamond-blackfan anemia-likeEnrichmentEPO2.02
74Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A12.02
75Glycogen storage disease xiiEnrichmentALDOA2.02
76Erythrocytosis, familial, 3EnrichmentEGLN12.02
77Ventricular septal defect 2EnrichmentCITED22.02
78Melanoma, cutaneous malignant 9EnrichmentTERT2.02
79Idiopathic interstitial pneumoniaEnrichmentTERT2.02
80Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA2.02
81Acute myeloid leukemia without maturationEnrichmentNPM12.02
82Charcot-marie-tooth disease type 4dEnrichmentNDRG12.02
83Lymphomatoid papulosisEnrichmentNPM12.02
84HyperinsulinismEnrichmentHNF4A2.02
85Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A2.02
86Autosomal erythropoietic protoporphyriaEnrichmentFECH2.02
87Erythropoietic protoporphyria, autosomal recessiveEnrichmentFECH2.02
88Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM12.02
89Jacobsen syndromeEnrichmentETS11.84
90Juvenile polyposis syndromeEnrichmentSMAD41.84
91Nijmegen breakage syndromeEnrichmentGCK1.84
92Glut1 deficiency syndrome 2EnrichmentSLC2A11.84
93Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.84
94Interstitial lung diseaseEnrichmentTERT1.84
95Macrocytic anemiaEnrichmentTERT1.84
96Melanoma of soft tissueEnrichmentCREB11.84
97EnchondromatosisEnrichmentHIF1A1.84
98Systemic lupus erythematosusEnrichmentENG, ETS11.83
99Type 2 diabetes mellitusEnrichmentGCK, HNF4A1.76
100Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD41.73
101Huntington diseaseEnrichmentSLC2A31.72
102Auriculocondylar syndrome 1EnrichmentEDN11.72
103Leptin deficiency or dysfunctionEnrichmentLEP1.72
104Congenital generalized lipodystrophyEnrichmentFOS1.72
105Lung sarcomatoid carcinomaEnrichmentTERT1.72
106Aortic aneurysmEnrichmentSMAD31.72
107Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.72
108Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.62
109Acute myeloid leukemia with maturationEnrichmentNPM11.62
110Histiocytoid hemangiomaEnrichmentFOS1.62
111Idiopathic aplastic anemiaEnrichmentTERT1.62
112Familial cerebral saccular aneurysmEnrichmentENG1.62
113Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT1.55
114Telangiectasia, hereditary hemorrhagic, type 1EnrichmentENG1.55
115Hyperinsulinemic hypoglycemia, familial, 1EnrichmentGCK1.55
116Pulmonary fibrosisEnrichmentTERT1.55
117Adrenocortical carcinomaEnrichmentTERT1.55
118Hoyeraal-hreidarsson syndromeEnrichmentTERT1.55
119Breast adenocarcinomaEnrichmentAKT11.55
120Kidney clear cell sarcomaEnrichmentTERT1.55
121Nonsyndromic genetic hyperinsulinismEnrichmentGCK1.55
122Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT1.48
123Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.48
124Gallbladder cancerEnrichmentSMAD41.48
125Paroxysmal dystoniaEnrichmentSLC2A11.48
126Alternating hemiplegia of childhoodEnrichmentSLC2A11.42
127Permanent neonatal diabetes mellitusEnrichmentGCK1.42
128Myoclonic-atonic epilepsyEnrichmentSLC2A11.37
129Loeys-dietz syndromeEnrichmentSMAD31.37
130Cowden syndromeEnrichmentAKT11.37
131Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.37
132Aplastic anemiaEnrichmentTERT1.33
133Neurodegeneration with brain iron accumulationEnrichmentCP1.33
134Breast cancerEnrichmentAKT1, JUN1.30
135Epilepsy, idiopathic generalizedEnrichmentABCB11.29
136Myelodysplastic syndromeEnrichmentGATA21.29
137Combined immunodeficiencyEnrichmentTFRC1.29
138Combined t cell and b cell immunodeficiencyEnrichmentTFRC1.29
139Diabetes mellitusEnrichmentGCK1.29
140Heritable pulmonary arterial hypertensionEnrichmentENG1.29
141Combined t and b cell immunodeficiencyEnrichmentTFRC1.29
142Pulmonary hypertension, primary, 1EnrichmentENG1.22
143Pulmonary disease, chronic obstructiveEnrichmentHMOX11.22
144Acute promyelocytic leukemiaEnrichmentNPM11.22
145Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.19
146Colorectal cancerEnrichmentAKT1, SMAD41.19
147Hermansky-pudlak syndromeEnrichmentCP1.16
148Hermansky-pudlak syndrome 1EnrichmentCP1.13
149Melanoma, cutaneous malignant 1EnrichmentTERT1.11
150Interstitial lung disease 2EnrichmentTERT1.11
151Congenital disorder of glycosylation, type inEnrichmentPGM11.11
152Polycystic liver diseaseEnrichmentHNF4A1.11
153Autosomal dominant polycystic liver diseaseEnrichmentHNF4A1.11
154Human immunodeficiency virus type 1EnrichmentCXCL121.08
155Charcot-marie-tooth disease type 4EnrichmentNDRG11.08
156Patent foramen ovaleEnrichmentCITED21.08
157Arteriovenous malformations of the brainEnrichmentENG1.06
158Ehlers-danlos syndromeEnrichmentSMAD31.06
159HepatoblastomaEnrichmentTERT1.02
160Hepatocellular carcinomaEnrichmentTERT1.00
161MalariaEnrichmentNOS20.98
162Pancreatic cancerEnrichmentSMAD40.95
163Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.95
164Tetralogy of fallotEnrichmentCITED20.93
165StrabismusEnrichmentSLC2A10.91
166Bladder cancerEnrichmentTERT0.89
167Differentiated thyroid carcinomaEnrichmentTERT0.89
168Visceral heterotaxy 5EnrichmentCITED20.86
169Cystic fibrosisEnrichmentHMOX10.85
170Connective tissue diseaseEnrichmentSMAD30.85
171EpilepsyEnrichmentSLC2A10.76
172Charcot-marie-tooth diseaseEnrichmentNDRG10.75
173Benign epilepsy with centrotemporal spikesEnrichmentSLC2A10.75
174Centralopathic epilepsyEnrichmentSLC2A10.73
175Gastric cancerEnrichmentSMAD40.73
176West syndromeEnrichmentSLC2A10.72
177Hereditary breast carcinomaEnrichmentAKT10.72
178ThrombocytopeniaEnrichmentSMAD40.69
179Ovarian cancerEnrichmentAKT10.41
180Autism spectrum disorderEnrichmentHK10.39
181MicrocephalyEnrichmentSLC2A10.35
182Complex neurodevelopmental disorderEnrichmentRORA0.35
183Inherited cancer-predisposing syndromeEnrichmentSMAD40.33
184Retinitis pigmentosaEnrichmentHK10.19
185Hereditary retinal dystrophyEnrichmentHK10.12
186Fundus dystrophyEnrichmentHK10.12

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