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.
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B3GAT3
beta-1,3-glucuronyltransferase 3
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20335603 PMID:21763480 PMID:24668659 PMID:25326635 PMID:25741868 PMID:25893793 PMID:26633542 PMID:26754439 PMID:27271787 PMID:27871226 PMID:28229453 PMID:28492532 PMID:31196143 PMID:31438591 PMID:31988067 More...
NCBI chr18:54,020,547...54,025,264
Ensembl chr18:54,020,736...54,024,910
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B4GALT7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
NCBI chr11:3,497,860...3,507,513
Ensembl chr11:3,498,153...3,505,034
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
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C18H11orf98
chromosome 18 C11orf98 homolog
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,992,413...53,995,549
Ensembl chr18:53,988,600...53,995,543
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CHST3
carbohydrate sulfotransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254
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COL11A2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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CSKMT
citrate synthase lysine methyltransferase
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,990,875...53,992,445
Ensembl chr18:53,990,895...53,991,774
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GANAB
glucosidase II alpha subunit
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:54,004,296...54,019,148
Ensembl chr18:54,003,689...54,018,157
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INTS5
integrator complex subunit 5
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,998,828...54,004,127
Ensembl chr18:53,998,897...54,003,957
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LRRN4CL
LRRN4 C-terminal like
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,971,590...53,973,958
Ensembl chr18:53,972,490...53,973,203
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ROM1
retinal outer segment membrane protein 1
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:20335603 PMID:28492532
NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375
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UBXN1
UBX domain protein 1
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,977,937...53,982,108
Ensembl chr18:53,978,062...53,982,111
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UQCC3
ubiquinol-cytochrome c reductase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type
ClinVar
PMID:28492532
NCBI chr18:53,984,203...53,985,496
Ensembl chr18:53,984,771...53,985,422
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