COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
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) 		0.400 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.400 Biomarker disease CTD_human A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 16909383 2006