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: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding) 		phenotype 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		phenotype 0.100 None 0 0
Entrez Id: 85378
Gene Symbol: TUBGCP6
TUBGCP6 		tubulin gamma complex associated protein 6 0.695 0.308 2.6E-31
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0