JAGN1, jagunal homolog 1, 84522

N. diseases: 10; N. variants: 8
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777729
rs587777729
Entrez Id: 84522
Gene Symbol: JAGN1
JAGN1
CUI: C4014954
Disease:
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. 25129144 2014
dbSNP: rs587777729
rs587777729
Entrez Id: 84522
Gene Symbol: JAGN1
JAGN1
CUI: C4014954
Disease:
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR