TXNL4A, thioredoxin like 4A, 10907

N. diseases: 39; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs535089924
rs535089924
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		A 0.700 CausalMutation CLINVAR Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
dbSNP: rs727502793
rs727502793
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		A 0.700 CausalMutation CLINVAR Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
dbSNP: rs727502794
rs727502794
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		A 0.700 CausalMutation CLINVAR Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
dbSNP: rs727502795
rs727502795
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		G 0.700 CausalMutation CLINVAR Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
dbSNP: rs786205699
rs786205699
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		C 0.700 CausalMutation CLINVAR Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
dbSNP: rs879255559
rs879255559
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
CUI: C1837822
Disease:
Burn-Mckeown syndrome 		C 0.700 CausalMutation CLINVAR