TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.100 Biomarker phenotype HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes 		0.100 Biomarker phenotype HPO
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		0.100 Biomarker phenotype HPO
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		0.100 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		0.010 GeneticVariation disease BEFREE This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. 28292732 2017
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		0.100 Biomarker disease HPO
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C4023890
Disease: Aplasia/Hypoplasia of the phalanges of the 2nd toe
Aplasia/Hypoplasia of the phalanges of the 2nd toe 		0.100 Biomarker phenotype HPO
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		0.100 Biomarker disease HPO
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation phenotype BEFREE These two mutations resulted in the severe phenotypes observed in our patient <b>Conclusions:</b> The identification of the novel TBC1D24 mutation and consequent complicated clinical manifestations suggest that patients with NCSE and ataxia demand more attention. 30108545 2018
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO