Source: GENOMICS_ENGLAND

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: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		disease 1.000 definitive 1.000 6 0 1998 2020
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.330 strong 1.000 1 0 2011 2017
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		phenotype 0.300 strong 0 0