|
Anxiety
|
0.010 |
Biomarker
|
disease |
BEFREE |
Zdhhc9 mutant male mice exhibit a range of abnormalities compared with their wild-type littermates: altered behaviour in the open-field test, elevated plus maze and acoustic startle test that is consistent with a reduced anxiety level; a reduced hang time in the hanging wire test that suggests underlying hypotonia but which may also be linked to reduced anxiety; deficits in the Morris water maze test of hippocampal-dependent spatial learning and memory; and a 36% reduction in corpus callosum volume revealed by MRI.
|
29944857 |
2018 |
|
Anxiety Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Zdhhc9 mutant male mice exhibit a range of abnormalities compared with their wild-type littermates: altered behaviour in the open-field test, elevated plus maze and acoustic startle test that is consistent with a reduced anxiety level; a reduced hang time in the hanging wire test that suggests underlying hypotonia but which may also be linked to reduced anxiety; deficits in the Morris water maze test of hippocampal-dependent spatial learning and memory; and a 36% reduction in corpus callosum volume revealed by MRI.
|
29944857 |
2018 |
|
Moderate intellectual disability
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding zDHHC9 cause mild-to-moderate intellectual disability, seizures, speech and language impairment, hypoplasia of the corpus callosum and reduced volume of sub-cortical structures.
|
29944857 |
2018 |
|
Congenital anomaly of face
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Although initial reports of families with ZDHHC9 pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism.
|
29681091 |
2018 |
|
Bone Diseases
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In addition, MMSA-1 mRNA expression not only showed significantly higher correlation with clinical parameters such as age, Durie and Salmon stage, bone lesion condition, albumin, creatinine and lactate dehydrogenase but also has a close relationship with myeloma bone disease-related cytokines, genetic abnormalities and treatment response.
|
26493349 |
2016 |
|
Li-Fraumeni Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS.
|
26358559 |
2016 |
|
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
These data strongly demonstrate that sp-Erf2/zDHHC9 palmitoylates Ras proteins in a highly selective manner in the trans-Golgi compartment to facilitate PM targeting via the trans-Golgi network, a role that is most certainly critical for Ras-driven tumorigenesis.
|
24248599 |
2014 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Analyses of 168 samples from proximal and distal adenocarcinomas using U133plus2.0 microarrays validated these findings, showing a significant two-fold (log 2) upregulation of DHHC9 transcript (P<10(-6)).
|
17519897 |
2007 |
|
Colonic Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In conclusion, DHHC9 is a gastrointestinal-related protein highly expressed in MSS colon tumours.
|
17519897 |
2007 |
|
Colorectal Neoplasms
|
0.010 |
AlteredExpression
|
group |
LHGDN |
Differential expression of DHHC9 in microsatellite stable and instable human colorectal cancer subgroups.
|
17519897 |
2007 |
|
Adenocarcinoma of colon
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Microarray analysis on pooled samples has previously identified ZDHHC9 (DHHC9) to be upregulated in colon adenocarcinoma compared to normal colon mucosa.
|
17519897 |
2007 |
|
Mental Retardation, X-Linked
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
|
17436253 |
2007 |
|
Multiple Myeloma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
In this study, we identified a membrane protein MMSA-1 (multiple myeloma special antigen-1) that was specifically expressed in MM and exhibited significantly positive correlation with MM.
|
28508448 |
2017 |
|
Multiple Myeloma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
In addition, MMSA-1 mRNA expression not only showed significantly higher correlation with clinical parameters such as age, Durie and Salmon stage, bone lesion condition, albumin, creatinine and lactate dehydrogenase but also has a close relationship with myeloma bone disease-related cytokines, genetic abnormalities and treatment response.
|
26493349 |
2016 |
|
Multiple Myeloma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Furthermore, SYBR Green real-time PCR showed that MMSA-1 presented with a high number of copy messages in MM.
|
16193335 |
2006 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Next-generation sequencing in X-linked intellectual disability.
|
25649377 |
2015 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
|
24357419 |
2014 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |
|
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
|
17436253 |
2007 |
|
Arachnodactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Flatfoot
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Congenital pectus excavatum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hallucinations
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Atrial Septal Defects
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|