FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776969626
rs776969626
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 CausalMutation CLINVAR Profiling Fanconi Anemia Gene Mutations among Iranian Patients. 27041517 2016
dbSNP: rs776969626
rs776969626
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 CausalMutation CLINVAR FANCA safeguards interphase and mitosis during hematopoiesis in vivo. 26366677 2015
dbSNP: rs776969626
rs776969626
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 CausalMutation CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222 2013
dbSNP: rs776969626
rs776969626
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 CausalMutation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726 2013
dbSNP: rs776969626
rs776969626
Entrez Id: 2175;92822
Gene Symbol: FANCA;ZNF276
FANCA;ZNF276
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		C 0.700 CausalMutation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011