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: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		disease 0.900 strong 0.929 0 0 1998 2018
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		disease 0.600 None 1.000 2 0 1999 2015
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease 0.400 strong 1.000 1 0 1999 1999
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 strong 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.300 limited 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype 0.300 strong 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0