RBSN, rabenosyn, RAB effector, 64145

N. diseases: 3; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809031
Disease: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. 29784638 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 Biomarker group BEFREE Immunoprecipitation and Western blot analysis further showed a 110 KDa protein in colorectal tumors. 27296891 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype BEFREE Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking. 25233840 2014