NLGN3, neuroligin 3, 54413

N. diseases: 4; N. variants: 4
Source: CURATED ×
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