Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852214
rs137852214
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		A 0.800 CausalMutation CLINVAR

dbSNP: rs137852215
rs137852215
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1131690786
rs1131690786
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556004813
rs1556004813
ZDHHC9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377

2015
dbSNP: rs1556004813
rs1556004813
ZDHHC9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs1556004813
rs1556004813
ZDHHC9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Expanding the clinical phenotype of patients with a ZDHHC9 mutation. 24357419

2014
dbSNP: rs1556004813
rs1556004813
ZDHHC9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
dbSNP: rs1556004813
rs1556004813
ZDHHC9
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 17436253

2007
dbSNP: rs1569321518
rs1569321518
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs606231182
rs606231182
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs606231183
rs606231183
ZDHHC9
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		G 0.700 CausalMutation CLINVAR