COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Sensorineural Hearing Loss (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease BEFREE These results are similar to those previously obtained from a Dutch DFNA13 family with midfrequency sensorineural hearing impairment. 17136632 2007
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease CTD_human Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. 16637051 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 GeneticVariation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.410 Biomarker disease HPO