Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		disease 0.800 None 1.000 1 3 2002 2020
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 1 2017 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 1 1967 2015
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 23111
Gene Symbol: SPART
SPART 		spartin 0.588 0.654 3.0E-07
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1