GAB1, GRB2 associated binding protein 1, 2549

N. diseases: 82; N. variants: 18
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854275
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26
DEAFNESS, AUTOSOMAL RECESSIVE 26 		0.600 CausalMutation disease CLINVAR Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 29408807 2018
CUI: C1854275
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26
DEAFNESS, AUTOSOMAL RECESSIVE 26 		0.600 GeneticVariation disease UNIPROT Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. 29408807 2018
CUI: C1854275
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26
DEAFNESS, AUTOSOMAL RECESSIVE 26 		0.600 Biomarker disease CTD_human