RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Noonan syndrome 8
Accession: DOID:0060586
browse the term
Definition: A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)
Synonyms: exact_synonym: NS8; RIT1-RELATED CONDITION
primary_id: OMIM:615355
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Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
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Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532 PMID:30684668 PMID:31463572
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
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Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532 PMID:30684668 PMID:31463572
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
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Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
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Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Mex3a
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
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Msto1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532 PMID:30684668 PMID:31463572
NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:25741868 PMID:26619011 PMID:27631024
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
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Rit1
Ras-like without CAAX 1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:615355 ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition
OMIM CTD MouseDO ClinVar
PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:9536098 PMID:17576681 PMID:23791108 PMID:24033266 PMID:24469055 PMID:24803665 PMID:24896146 PMID:24901346 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25294908 PMID:25741868 PMID:25959749 PMID:26242988 PMID:26446362 PMID:26518681 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27109146 PMID:27226556 PMID:27699752 PMID:28323383 PMID:28347726 PMID:28492532 PMID:28554332 PMID:29158550 PMID:29402968 PMID:29734338 PMID:30105547 PMID:30266093 PMID:30293990 PMID:30684668 PMID:30692697 PMID:30712878 PMID:30732632 PMID:30872527 PMID:30898653 PMID:31040167 PMID:31219622 PMID:31292302 PMID:31355538 PMID:31463572 PMID:31573083 PMID:32304219 PMID:32396283 PMID:32766847 PMID:32860008 PMID:33128510 PMID:33144663 PMID:33190430 PMID:33258288 PMID:33452774 PMID:33794220 PMID:34008892 PMID:34237269 PMID:34306696 PMID:34358384 PMID:35418694 PMID:36274670 More...
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Rxfp4
relaxin family peptide/INSL5 receptor 4
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,123,510...174,124,664
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Ssr2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
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Syt11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532 PMID:30684668 PMID:31463572
NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
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Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: Noonan syndrome 8
ClinVar
PMID:28492532
NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
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