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: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder)
disease 0.420 limited 1.000 9 0 2005 2017
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder)
disease 0.350 limited 1.000 4 0 2005 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder)
disease 0.330 moderate 1.000 6 0 2005 2019