HIF Enhancers

No Pathway Network information available for HIF Enhancers

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

Disorders associated with HIF Enhancers SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3004.83
2Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3004.83
3Rare genetic intellectual disabilityEnrichmentCREBBP, EP3003.99
4Colorectal cancerEnrichmentCTNNB1, EP300, SRC3.64
5MicrocephalyEnrichmentCTNNB1, EP300, MAPK13.20
6Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D2.99
7Orofacial cleft 10EnrichmentSUMO12.99
8Type 1 diabetes mellitus 5EnrichmentSUMO42.99
9Erythrocytosis, familial, 4EnrichmentEPAS12.99
10Atrial septal defect 8EnrichmentCITED22.99
11Menke-hennekam syndrome 1EnrichmentCREBBP2.99
12Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.99
13Sinus venosus atrial septal defectEnrichmentCITED22.99
14Multiple paragangliomas associated with polycythemiaEnrichmentEPAS12.99
15Menke-hennekam syndromeEnrichmentCREBBP2.99
16Noonan syndrome 13EnrichmentMAPK12.85
17Thrombocytopenia 6EnrichmentSRC2.85
18Adenoid ameloblastomaEnrichmentCTNNB12.85
19Microcystic stromal tumorEnrichmentCTNNB12.85
20Thumb deformityEnrichmentCREBBP2.69
21Menke-hennekam syndrome 2EnrichmentEP3002.69
22Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.69
23Erythrocytosis, familial, 3EnrichmentEPAS12.69
24Ventricular septal defect 2EnrichmentCITED22.69
25Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.55
26Childhood hepatocellular carcinomaEnrichmentCTNNB12.55
27Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.55
28TeratomaEnrichmentCTNNB12.55
29Primary mediastinal large b-cell lymphomaEnrichmentXPO12.55
30Tethered spinal cord syndromeEnrichmentCREBBP2.51
31Intraocular pressure quantitative trait locusEnrichmentCREBBP2.51
32Advanced sleep phase syndromeEnrichmentCSNK1D2.51
33EnchondromatosisEnrichmentHIF1A2.51
34Desmoid disease, hereditaryEnrichmentCTNNB12.38
35Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB12.38
36Anus, imperforateEnrichmentCTNNB12.38
37Exudative vitreoretinopathy 7EnrichmentCTNNB12.38
38Desmoid tumorEnrichmentCTNNB12.38
39Enchondromatosis, multiple, ollier typeEnrichmentHIF1A2.29
40Rubinstein-taybi syndrome 2EnrichmentEP3002.29
41Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.25
42PilomatrixomaEnrichmentCTNNB12.25
43Alazami syndromeEnrichmentCTNNB12.25
44CraniopharyngiomaEnrichmentCTNNB12.25
45HypertrichosisEnrichmentCREBBP2.21
46Autosomal dominant secondary polycythemiaEnrichmentEPAS12.21
47Sporadic pheochromocytoma/secreting paragangliomaEnrichmentEPAS12.21
48Exudative vitreoretinopathy 1EnrichmentCTNNB12.16
49Multiple enchondromatosis, maffucci typeEnrichmentHIF1A2.14
50Weyers acrofacial dysostosisEnrichmentCTNNB12.08
51Adrenocortical carcinomaEnrichmentCTNNB12.08
52Charge syndromeEnrichmentEP3002.03
53Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB12.02
54Nervous system diseaseEnrichmentCREBBP, CTNNB12.02
55MyelofibrosisEnrichmentSRC2.01
56Gallbladder cancerEnrichmentCTNNB12.01
57Exudative vitreoretinopathyEnrichmentCTNNB11.95
58Adult hepatocellular carcinomaEnrichmentCTNNB11.90
59Heart diseaseEnrichmentCREBBP1.84
60Specific learning disabilityEnrichmentMAPK11.82
61Polydactyly, postaxial, type a1EnrichmentEP3001.81
62Corpus callosum, agenesis ofEnrichmentCREBBP1.81
63Isolated corpus callosum agenesisEnrichmentCREBBP1.81
64Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.81
65Patent foramen ovaleEnrichmentCITED21.73
66OsteoporosisEnrichmentSRC1.71
67MedulloblastomaEnrichmentCTNNB11.71
68Diffuse large b-cell lymphomaEnrichmentCREBBP1.71
69Tooth agenesisEnrichmentSUMO11.65
70Polycystic liver diseaseEnrichmentCTNNB11.63
71Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.63
72ScoliosisEnrichmentCREBBP1.61
73Heart, malformation ofEnrichmentMAPK11.60
74Tetralogy of fallotEnrichmentCITED21.58
75HepatoblastomaEnrichmentCTNNB11.54
76Hepatocellular carcinomaEnrichmentCTNNB11.52
77Visceral heterotaxy 5EnrichmentCITED21.50
78Bladder cancerEnrichmentCTNNB11.40
79Myeloma, multipleEnrichmentCREBBP1.25
80ThrombocytopeniaEnrichmentSRC1.19
81AutismEnrichmentCREBBP1.14
82Ovarian cancerEnrichmentCTNNB10.88

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