NLGN3, neuroligin 3, 54413

N. diseases: 63; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34927195
rs34927195 		1.000 X 71147958 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2003 2014
dbSNP: rs34927195
rs34927195 		1.000 X 71147958 frameshift variant -/G delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2003 2014
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C1845341
Disease: ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder) 		0.700 0
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C1845540
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding) 		0.700 0
dbSNP: rs1569485503
rs1569485503 		1.000 0.040 X 71167697 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1569485503
rs1569485503 		1.000 0.040 X 71167697 missense variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs878853147
rs878853147 		0.925 0.200 X 71169399 missense variant C/T snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.090 1.000 9 2004 2019
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.080 1.000 8 2004 2019
dbSNP: rs11795613
rs11795613 		0.925 0.120 X 71147478 intron variant A/G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs11795613
rs11795613 		0.925 0.120 X 71147478 intron variant A/G snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0679407
Disease: Gastrointestinal dysfunction
Gastrointestinal dysfunction 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0426317
Disease: Genitourinary symptoms
Genitourinary symptoms 		0.010 1.000 1 2019 2019
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs121917893
rs121917893 		0.807 0.160 X 71167508 missense variant C/T snv
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs4844285
rs4844285 		0.925 0.120 X 71150394 intron variant G/A snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4844285
rs4844285 		0.925 0.120 X 71150394 intron variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4844286
rs4844286 		1.000 0.040 X 71151724 intron variant T/G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs878853147
rs878853147 		0.925 0.200 X 71169399 missense variant C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs878853147
rs878853147 		0.925 0.200 X 71169399 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019