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: 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: 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: 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: 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: 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: 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: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
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: 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: 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: 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: 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: C1321884
Disease: Atresia of vagina
Atresia of vagina 		disease 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1441613
Disease: Immune diffusion
Immune diffusion 		phenotype 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0576226
Disease: Short foot
Short foot 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0497406
Disease: Overweight
Overweight 		phenotype 0.100 None 0 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0