Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Genitopatellar Syndrome
go back to main search page
Accession:DOID:9005520 term browser browse the term
Synonyms:exact_synonym: Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation;   GTPTS
 broad_synonym: AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS;   KAT6B-related spectrum disorder;   KAT6B-related spectrum disorders
 primary_id: MESH:C565255
 alt_id: OMIM:606170


show annotations for term's descendants           Sort by:
Genitopatellar Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,246,616...3,264,846
Ensembl chr15:3,246,926...3,264,844 		JBrowse link
G Comtd1 catechol-O-methyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,459,783...2,462,895
Ensembl chr15:2,459,783...2,462,895 		JBrowse link
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:75,786...209,735
Ensembl chr15:75,786...187,837 		JBrowse link
G Dusp13b dual specificity phosphatase 13B ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,567,432...2,575,105
Ensembl chr15:2,533,547...2,575,539 		JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Autosomal dominant KAT6B-related disorders | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:12210329 PMID:12210330 PMID:16199547 PMID:16761293 More... RGD:9588485 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616 		JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279 		JBrowse link
G Samd8 sterile alpha motif domain containing 8 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,512,104...2,562,368
Ensembl chr15:2,512,105...2,515,379
Ensembl chr15:2,512,105...2,515,379 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Vdac2 voltage-dependent anion channel 2 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553 		JBrowse link
G Zfp503 zinc finger protein 503 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,313,060...2,316,848
Ensembl chr15:2,313,060...2,316,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Genitopatellar Syndrome 17
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    Genitopatellar Syndrome 17
paths to the root