COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
Disease: STICKLER SYNDROME, TYPE V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. 20358595 2010
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 Biomarker disease CTD_human
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		0.600 CausalMutation disease CLINVAR