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: rs74315429
rs74315429
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		0.800 GeneticVariation UNIPROT A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 16402211 2006
dbSNP: rs74315429
rs74315429
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		0.800 GeneticVariation UNIPROT Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
dbSNP: rs74315429
rs74315429
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		0.800 GeneticVariation UNIPROT Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 12395297 2002
dbSNP: rs74315429
rs74315429
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		C 0.800 CausalMutation CLINVAR