SPART, spartin, 23111

N. diseases: 110; N. variants: 6
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: rs775736341
rs775736341 		0.925 0.080 13 36335466 frameshift variant AT/- del 6.8E-05 9.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1967 2015
dbSNP: rs1399213398
rs1399213398 		1.000 0.080 13 36331419 missense variant T/C snv 4.0E-06
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2002 2017
dbSNP: rs775736341
rs775736341 		0.925 0.080 13 36335466 frameshift variant AT/- del 6.8E-05 9.8E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs7981274
rs7981274 		13 36352428 intron variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1060499524
rs1060499524 		1.000 0.080 13 36329416 frameshift variant T/- delins 4.0E-06 1.4E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882198
rs730882198 		0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs748835312
rs748835312 		1.000 0.080 13 36335146 stop gained G/A;C snv 4.0E-06; 1.2E-05
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0