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.
G
Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,846,860...75,871,638
Ensembl chr18:75,847,165...75,903,317
G
Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,451,821...76,643,931
Ensembl chr18:76,451,821...76,643,893
G
Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,129,243...76,193,404
Ensembl chr18:76,129,243...76,190,578
G
Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:78,046,803...78,062,359
Ensembl chr18:78,046,805...78,062,359
G
Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,957,266...75,963,024
Ensembl chr18:75,957,266...75,963,024
G
Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,017,225...76,085,377
Ensembl chr18:76,018,047...76,083,688
G
Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174
G
Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,321,386...76,430,997
Ensembl chr18:76,321,386...76,430,990
G
Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,772,992...75,840,041
Ensembl chr18:75,772,955...75,840,041
G
Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,914,247...75,923,893
Ensembl chr18:75,914,145...75,939,219
G
Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905
G
Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:75,976,000...76,014,651
Ensembl chr18:75,977,458...76,014,651
G
Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia
ClinVar
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 More...
NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873
G
Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:78,251,248...78,351,037
Ensembl chr18:78,251,248...78,347,236
G
Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
ClinVar
PMID:25434003
NCBI chr18:78,561,069...78,661,263
Ensembl chr18:78,573,562...78,674,419
G
Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,846,860...75,871,638
Ensembl chr18:75,847,165...75,903,317
G
Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,451,821...76,643,931
Ensembl chr18:76,451,821...76,643,893
G
Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,129,243...76,193,404
Ensembl chr18:76,129,243...76,190,578
G
Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:78,046,803...78,062,359
Ensembl chr18:78,046,805...78,062,359
G
Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,957,266...75,963,024
Ensembl chr18:75,957,266...75,963,024
G
Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,017,225...76,085,377
Ensembl chr18:76,018,047...76,083,688
G
Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174
G
Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,321,386...76,430,997
Ensembl chr18:76,321,386...76,430,990
G
Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,772,992...75,840,041
Ensembl chr18:75,772,955...75,840,041
G
Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,914,247...75,923,893
Ensembl chr18:75,914,145...75,939,219
G
Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905
G
Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:75,976,000...76,014,651
Ensembl chr18:75,977,458...76,014,651
G
Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition CTD Direct Evidence: marker/mechanism DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter:
OMIM ClinVar CTD RGD
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 PMID:25434003 PMID:28905882 More...
RGD:11531484 , RGD:155882456
NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873
G
Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:78,251,248...78,351,037
Ensembl chr18:78,251,248...78,347,236
G
Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:78,561,069...78,661,263
Ensembl chr18:78,573,562...78,674,419
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all