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: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.600 None 1.000 0 0 2010 2012
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.420 None 1.000 0 0 2018 2018
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		disease 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0278184
Disease: Scanning speech
Scanning speech 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		coiled-coil domain containing 88C 0.647 0.346 3.3E-08
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		phenotype 0.100 None 0 0