Source: ALL

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: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.400 None 0.982 57 26 1999 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.940 None 1.000 38 53 1999 2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.430 strong 1.000 6 3 2002 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease 0.200 None 1.000 4 0 2004 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.620 strong 1.000 3 0 2002 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.020 None 1.000 2 0 2000 2016
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease 0.020 None 1.000 2 1 2012 2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease 0.020 None 1.000 2 0 1999 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.020 None 1.000 2 1 2006 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 1.000 2 1 2002 2016
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype 0.110 None 1.000 1 0 2006 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 strong 1.000 1 1 2001 2001
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group 0.010 None 1.000 1 0 2006 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1838261
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 4
DIABETES MELLITUS, INSULIN-DEPENDENT, 4 		disease 0.010 None 1.000 1 0 1997 1997