ZNF750, zinc finger protein 750, 79755

N. diseases: 20; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759704231
rs759704231
Entrez Id: 6904;79755
Gene Symbol: TBCD;ZNF750
TBCD;ZNF750
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC. 25839328 2015
dbSNP: rs759704231
rs759704231
Entrez Id: 6904;79755
Gene Symbol: TBCD;ZNF750
TBCD;ZNF750
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.010 GeneticVariation BEFREE Moreover, PIK3CA hotspot mutations (c.1624G>A [p.Glu542Lys] and c.1633G>A [p.Glu545Lys]) were enriched in APOBEC-signature tumors, and no smoking-associated signature was observed in ESCC. 25839328 2015
dbSNP: rs766578118
rs766578118
Entrez Id: 6904;79755
Gene Symbol: TBCD;ZNF750
TBCD;ZNF750
CUI: C0033860
Disease:
Psoriasis 		0.010 GeneticVariation BEFREE To identify the mutations responsible for the psoriasis in this family, we sequenced 78 genes within the region and found four gene variants, p.Ala201Val in CD7, c.-625A>C in zinc-finger protein 750 (ZNF750), p.Asp189Asn in C17orf56, and p.Ala568Thr in AATK cosegregated with the disease. 18256691 2008