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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Bace1
beta-secretase 1
IEP
mRNA:decreased expression:dorsal root ganglion
RGD
PMID:28012171
RGD:13782150
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Flvcr1
FLVCR choline and heme transporter 1
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:25741868
NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301711 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33477664 PMID:35662277 PMID:36140714 More...
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:25741868
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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Mir15b
microRNA 15b
IEP
RNA:increased expression:dorsal root ganglion:
RGD
PMID:28012171
RGD:13782150
NCBI chr 2:153,245,200...153,245,297
Ensembl chr 2:153,245,200...153,245,297
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29136549 PMID:29687021 PMID:31211173 PMID:31372974 More...
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Scn11a
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:28492532 PMID:32581362
NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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Sptlc3
serine palmitoyltransferase, long chain base subunit 3
ISO
ClinVar Annotator: match by term: Sensory neuropathy
ClinVar
PMID:23806086 PMID:24088041 PMID:26257172
NCBI chr 3:126,847,878...126,978,010
Ensembl chr 3:126,847,878...126,978,010
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all