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: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		disease 0.700 None 1.000 0 11 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group 0.130 None 0.667 0 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 1 2 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.110 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.110 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.110 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 8 1 2009 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 8 1 2009 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 8 1 2009 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0566899
Disease: Small labia majora
Small labia majora 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0003635
Disease: Apraxias
Apraxias 		group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype 0.100 None 1.000 1 1 2017 2017