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: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		disease 0.910 None 1.000 34 53 2001 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		disease 0.700 None 1.000 1 8 2015 2015
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.420 None 1.000 3 4 2015 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.420 strong 1.000 2 0 2004 2006
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.420 strong 1.000 2 3 2005 2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.400 None 0.976 82 20 1998 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.360 None 1.000 6 0 2011 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
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 1 0 2004 2004
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 1 0 2001 2001
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.110 None 1.000 1 0 2001 2001
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease 0.110 None 1.000 1 0 2005 2005
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 3 1 2007 2013
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 3 1 2007 2013
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 3 1 2007 2013
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 1.000 1 1 2019 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1