TFAP2B, transcription factor AP-2 beta, 7021

N. diseases: 128; N. variants: 23
Disease: CHAR SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338910
rs80338910
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C1868570
Disease:
CHAR SYNDROME 		0.800 GeneticVariation UNIPROT Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. 15684060 2005
dbSNP: rs80338910
rs80338910
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C1868570
Disease:
CHAR SYNDROME 		0.800 GeneticVariation UNIPROT Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. 11505339 2001
dbSNP: rs80338910
rs80338910
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C1868570
Disease:
CHAR SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. 10802654 2000
dbSNP: rs80338910
rs80338910
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C1868570
Disease:
CHAR SYNDROME 		G 0.800 CausalMutation CLINVAR