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: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		disease 0.700 None 1.000 0 0 2000 2014
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1839252
Disease: Hump-shaped mound of bone in central and posterior portions of vertebral endplate
Hump-shaped mound of bone in central and posterior portions of vertebral endplate 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0264172
Disease: Barrel chest
Barrel chest 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0426789
Disease: Short thorax
Short thorax 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.100 None 0 0
Entrez Id: 6399
Gene Symbol: TRAPPC2
TRAPPC2 		trafficking protein particle complex 2 0.722 0.308 2.4E-03
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		phenotype 0.100 None 0 0