HMMR, hyaluronan mediated motility receptor, 3161

N. diseases: 117; N. variants: 6
Disease: 5q-syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		0.010 GeneticVariation disease BEFREE The map position of the human RHAMM gene places it in a region comparatively rich in disease-associated genes, including those for low-frequency hearing loss, dominant limb-girdle muscular dystrophy, diastrophic dysplasia, Treacher Collins syndrome, and myeloid disorders associated with the 5q- syndrome. 8595891 1995