Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.130 None 1.000 0 0 2005 2019
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.130 None 1.000 0 0 2010 2018
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease 0.110 None 1.000 0 0 2009 2009
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1260959
Disease: Drusen
Drusen 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0702166
Disease: Acne
Acne 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0425791
Disease: Peau d'orange surface of breast
Peau d'orange surface of breast 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4531299
Disease: Premature occlusive vascular stenosis
Premature occlusive vascular stenosis 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4025265
Disease: Medial calcification of large arteries
Medial calcification of large arteries 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4022895
Disease: Medial calcification of medium-sized arteries
Medial calcification of medium-sized arteries 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease 0.100 None 0 0