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: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4024928
Disease: Absent smooth pursuit
Absent smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		disease 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease 0.100 None 0 0