rs1057519389, EBF3

N. diseases: 46
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
12 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.800 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 8 2009 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 8 2009 2017
Pierre Robin Syndrome
CUI: C0031900
Disease: Pierre Robin Syndrome
3 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 2 2017 2017
Abnormal palmar creases
CUI: C0221199
Disease: Abnormal palmar creases
3 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Abnormality of facial musculature
CUI: C4025865
Disease: Abnormality of facial musculature
1 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Aplasia/Hypoplasia of the cerebellar vermis
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
2 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Impaired pain sensation
CUI: C1837522
Disease: Impaired pain sensation
4 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Overfolding of the superior helices
CUI: C1865304
Disease: Overfolding of the superior helices
7 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Small labia majora
CUI: C0566899
Disease: Small labia majora
3 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017