Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 27657680

2017
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Rabconnectin3α promotes stable activity of the H+ pump on synaptic vesicles in hair cells. 22875945

2012