TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		disease Disease or Syndrome 1 10 0.700 strong 1.000 10 10 2014 2018
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		disease Disease or Syndrome 1 7 0.800 strong 1.000 7 7 2010 2019
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		disease Disease or Syndrome 1 5 0.700 strong 1.000 6 5 2014 2018
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.150 None 1.000 5 2014 2019
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		phenotype Finding 1 6 0.100 None 1.000 4 6 2014 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 2 9 2014 2014
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype Anatomical Abnormality 9 9 0.100 None 1.000 2 8 2014 2014
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 1.000 2 8 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		phenotype Finding 6 1 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 40 5 0.100 None 0
CUI: C1835095
Disease: Macrodontia of permanent maxillary central incisor
Macrodontia of permanent maxillary central incisor 		phenotype Finding 8 1 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0