Source: HPO

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: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		disease 0.620 limited 1.000 0 0 2016 2018
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.110 None 1.000 0 0 1999 1999
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1836589
Disease: Decreased hip abduction
Decreased hip abduction 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype 0.100 None 0 0