Source: CLINVAR

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: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		disease 0.700 strong 1.000 4 1 2010 2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		disease 0.700 None 1.000 3 8 2001 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.130 None 1.000 1 1 2018 2020
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 10 1 2010 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 10 2 2010 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 1 2010 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 5 2 2014 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 5 3 2014 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 1.000 4 1 2014 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG 		phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.100 None 1.000 2 2 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 2 4 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0031873
Disease: Pica Disease
Pica Disease 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 1.000 2 2 2017 2017