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: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		disease 0.800 None 1.000 0 0 2000 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.700 None 0.979 0 0 1996 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease 0.700 None 0.983 0 0 1991 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.410 None 1.000 0 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.400 None 1.000 0 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease 0.400 None 1.000 0 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0009319
Disease: Colitis
Colitis 		disease 0.190 None 1.000 0 0 2004 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group 0.140 None 1.000 0 0 1990 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.140 None 1.000 0 0 2005 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.130 None 1.000 0 0 2019 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease 0.130 None 1.000 0 0 2003 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.120 None 1.000 0 0 1997 2000
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.120 None 1.000 0 0 2005 2013
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease 0.120 None 1.000 0 0 2012 2016
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		disease 0.120 None 1.000 0 0 2003 2013
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.120 None 1.000 0 0 2005 2008
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0011334
Disease: Dental caries
Dental caries 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C4551853
Disease: Diaphyseal sclerosis
Diaphyseal sclerosis 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1851612
Disease: Narrowing of medullary canal
Narrowing of medullary canal 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease 0.100 None 0 0