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: C0036572
Disease: Seizures
Seizures 		phenotype 0.610 strong 1.000 0 0 2016 2019
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.160 None 1.000 0 0 2016 2019
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: 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: 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: 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: 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: 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: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0