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: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		disease 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4 		trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.300 None 1.000 1 0 2020 2020