Source: CLINVAR

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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 1.000 None 0.981 1 11 1989 2020
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 0.120 None 1.000 0 2 2016 2018
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 0.100 None 0 11