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: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0563243
Disease: Poor coordination
Poor coordination 		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: 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: 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: 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: 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: 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: C1836150
Disease: Gait imbalance
Gait imbalance 		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: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		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: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.100 None 0 1
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
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0