rs1057519389, EBF3

N. diseases: 46
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormal palmar creases
CUI: C0221199
Disease: Abnormal palmar creases
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Abnormality of facial musculature
CUI: C4025865
Disease: Abnormality of facial musculature
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Abnormality of facial musculature
CUI: C4025865
Disease: Abnormality of facial musculature
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 CausalMutation CLINVAR
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
0.700 CausalMutation CLINVAR
Aplasia/Hypoplasia of the cerebellar vermis
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Apraxias
CUI: C0003635
Disease: Apraxias
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Ataxia
CUI: C0004134
Disease: Ataxia
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Ataxia
CUI: C0004134
Disease: Ataxia
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.700 CausalMutation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
0.700 CausalMutation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
0.700 CausalMutation CLINVAR
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
0.700 CausalMutation CLINVAR
Dysarthria
CUI: C0013362
Disease: Dysarthria
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 CausalMutation CLINVAR
Exotropia
CUI: C0015310
Disease: Exotropia
0.700 CausalMutation CLINVAR
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
External genital hypoplasia
CUI: C1855333
Disease: External genital hypoplasia
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017