Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		disease 0.980 None 1.000 2 0 1971 2020
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		disease 0.730 None 1.000 2 0 1996 2014
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0265282
Disease: Fibrochondrogenesis
Fibrochondrogenesis 		disease 0.630 strong 1.000 0 0 2010 2013
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C3278138
Disease: FIBROCHONDROGENESIS 1
FIBROCHONDROGENESIS 1 		disease 0.600 None 1.000 1 0 1996 2010
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		disease 0.600 strong 1.000 0 0 1971 2017
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group 0.510 None 1.000 1 0 1996 2014
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.410 strong 1.000 0 0 2003 2003
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C3151066
Disease: RETINITIS PIGMENTOSA 45
RETINITIS PIGMENTOSA 45 		disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 limited 1.000 1 0 2007 2007
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0