CORO1A, coronin 1A, 11151

N. diseases: 102; N. variants: 3
Disease: IMMUNODEFICIENCY 8 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514755
rs397514755
Entrez Id: 11151;107984834
Gene Symbol: CORO1A;LOC107984834
CORO1A;LOC107984834
CUI: C3809383
Disease:
IMMUNODEFICIENCY 8 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 23522482 2013
dbSNP: rs397514755
rs397514755
Entrez Id: 11151;107984834
Gene Symbol: CORO1A;LOC107984834
CORO1A;LOC107984834
CUI: C3809383
Disease:
IMMUNODEFICIENCY 8 		0.800 GeneticVariation UNIPROT Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 19097825 2009
dbSNP: rs397514755
rs397514755
Entrez Id: 11151;107984834
Gene Symbol: CORO1A;LOC107984834
CORO1A;LOC107984834
CUI: C3809383
Disease:
IMMUNODEFICIENCY 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs606231256
rs606231256
Entrez Id: 11151
Gene Symbol: CORO1A
CORO1A
CUI: C3809383
Disease:
IMMUNODEFICIENCY 8 		T 0.700 CausalMutation CLINVAR Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 25073507 2014
dbSNP: rs606231246
rs606231246
Entrez Id: 11151;107984834
Gene Symbol: CORO1A;LOC107984834
CORO1A;LOC107984834
CUI: C3809383
Disease:
IMMUNODEFICIENCY 8 		C 0.700 CausalMutation CLINVAR