Source: ORPHANET

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: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease 0.640 moderate 1.000 1 0 2012 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease 0.460 None 1.000 1 0 2008 2016
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0011859
Disease: Lipoatrophic Diabetes Mellitus
Lipoatrophic Diabetes Mellitus 		disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 1 0 2012 2012