SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Disease: Okihiro Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255537
rs879255537
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		GC 0.700 CausalMutation CLINVAR Novel frameshift variant in gene SALL4 causing Okihiro syndrome. 26791099 2016