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: 113189
Gene Symbol: CHST14
CHST14 		carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C1866294
Disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 		disease 0.730 None 1.000 5 0 2009 2016
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		carbohydrate sulfotransferase 14 0.638 0.654 0.45
CUI: C4303787
Disease: Ehlers-Danlos syndrome musculocontractural type
Ehlers-Danlos syndrome musculocontractural type 		disease 0.300 strong 0 0