SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
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
dbSNP: rs17201143
rs17201143
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs6126344
rs6126344
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0008924
Disease:
Cleft upper lip 		C 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
dbSNP: rs6126344
rs6126344
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0008925
Disease:
Cleft Palate 		C 0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
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
dbSNP: rs1555850961
rs1555850961
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568864697
rs1568864697
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1568865283
rs1568865283
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs74315424
rs74315424
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315425
rs74315425
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315426
rs74315426
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315427
rs74315427
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315428
rs74315428
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797044509
rs797044509
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C1623209
Disease:
Okihiro Syndrome 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs139382539
rs139382539
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0025322
Disease:
Premature Menopause 		0.010 GeneticVariation BEFREE The SALL4 c.541G>A and c.2279C>T variants were paternally inherited, while c.1790A>G was inherited from an affected mother with early menopause. 30603774 2019
dbSNP: rs755503899
rs755503899
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0025322
Disease:
Premature Menopause 		0.010 GeneticVariation BEFREE The SALL4 c.541G>A and c.2279C>T variants were paternally inherited, while c.1790A>G was inherited from an affected mother with early menopause. 30603774 2019
dbSNP: rs1357911800
rs1357911800
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE We discovered two novel variants: c.586C>T (p.Arg196Trp) and c.2389A>T (p.Ser797Cys) in 300 nonsyndromic VSD patients. 19619907 2010
dbSNP: rs151297824
rs151297824
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
CUI: C0018818
Disease:
Ventricular Septal Defects 		0.010 GeneticVariation BEFREE We discovered two novel variants: c.586C>T (p.Arg196Trp) and c.2389A>T (p.Ser797Cys) in 300 nonsyndromic VSD patients. 19619907 2010