DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 10 1 2010 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 10 1 2010 2017
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
disease Disease or Syndrome 1 1 0.700 strong 1.000 7 1 2010 2019
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
disease Disease or Syndrome 1 9 0.700 None 1.000 6 9 2001 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 5 3 2014 2017
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype Finding 160 246 0.100 None 1.000 4 1 2014 2017
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG
phenotype Finding 4 1 0.100 None 1.000 2 1 2017 2017
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 1.000 2 1 2017 2017
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 1.000 2 2 2017 2017
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 1.000 2 1 2017 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.010 None 1.000 1 2015 2015
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 35 7 0.100 None 1.000 1 1 2017 2017
CUI: C1524032
Disease: Depression and Suicide
Depression and Suicide
disease Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2004 2004
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 1.000 1 1 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 1.000 1 2 2017 2017
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes
phenotype Finding 1 2 0.100 None 1.000 1 1 2017 2017
CUI: C4025323
Disease: Postauricular skin tag
Postauricular skin tag
phenotype Finding 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0