CORO1A, coronin 1A, 11151

N. diseases: 102; N. variants: 3
Disease: IMMUNODEFICIENCY 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 CausalMutation disease CLINVAR Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 25073507 2014
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 23522482 2013
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 GermlineCausalMutation disease ORPHANET Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. 23522482 2013
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 GeneticVariation disease 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
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 Biomarker disease GENOMICS_ENGLAND Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 19097825 2009
CUI: C3809383
Disease: IMMUNODEFICIENCY 8
IMMUNODEFICIENCY 8 		0.700 Biomarker disease CTD_human