TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0563243
Disease: Poor coordination
Poor coordination 		0.100 Biomarker phenotype HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 Biomarker phenotype HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		0.100 Biomarker phenotype HPO
CUI: C1856115
Disease: Happy demeanor
Happy demeanor 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11 		0.600 CausalMutation disease CLINVAR
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.130 CausalMutation disease CLINVAR Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 28823707 2017