Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 Biomarker disease MGD Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model. 29944857 2018
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 Biomarker disease GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091 2018
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 Biomarker disease GENOMICS_ENGLAND Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. 26000327 2015
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 GeneticVariation disease UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 GeneticVariation disease UNIPROT Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 17436253 2007
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 GeneticVariation disease CLINVAR
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 Biomarker disease CTD_human
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.900 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker group BEFREE The current study redressed this by investigating brain network dynamics in a neurodevelopmental disorder of known genetic origin, by comparing individuals with a ZDHHC9-associated intellectual disability to individuals with no known impairment. 31639257 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker group BEFREE The X-Linked Intellectual Disability Gene Zdhhc9 Is Essential for Dendrite Outgrowth and Inhibitory Synapse Formation. 31747610 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker group GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 GeneticVariation group BEFREE Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker group BEFREE Overall, this study highlights a key role for zDHHC9 in brain development and behaviour, and supports the utility of the Zdhhc9 mutant mouse line to investigate molecular and cellular changes linked to intellectual disability and other deficits in the human population. 29944857 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 GeneticVariation group BEFREE The current study investigated white matter structural connectivity in a group of individuals with intellectual disability due to mutations in ZDHHC9. 28168288 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 GeneticVariation group BEFREE The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing. 28687527 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker group HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.310 Biomarker disease BEFREE These findings present a plausible mechanism for how the loss of ZDHHC9 function may contribute to XLID and epilepsy. 31747610 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.310 Biomarker disease GENOMICS_ENGLAND Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. 29681091 2018
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.300 GermlineCausalMutation disease ORPHANET Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. 23506379 2013
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. 17436253 2007
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model. 29944857 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Expanding the clinical phenotype of patients with a ZDHHC9 mutation. 24357419 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009