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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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Cryptophthalmia
ClinVar
PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Fras1
Fraser extracellular matrix complex subunit 1
ISS ISO
ClinVar Annotator: match by term: Cryptophthalmos with other malformations CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD
PMID:9536098 PMID:12766769 PMID:16199547 PMID:17163535 PMID:17576681 PMID:18671281 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24700879 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31738409 PMID:33726816 PMID:34246755 More...
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Frem1
Fras1 related extracellular matrix 1
ISS
OMIM:219000
MouseDO
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Frem2
FRAS1 related extracellular matrix 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations
CTD ClinVar MouseDO
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Grip1
glutamate receptor interacting protein 1
ISS
OMIM:219000
MouseDO
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar OMIM RGD
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34906515 PMID:34974531 PMID:35005812 PMID:35595450 PMID:12766769 More...
RGD:1598960
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Frem2
FRAS1 related extracellular matrix 2
IAGP ISO
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2
ClinVar OMIM RGD
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
RGD:13464328 , RGD:126781714
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Frem2fpl
Fras1 related extracellular matrix protein 2;fpl mutant
IAGP
RGD
PMID:21756877 PMID:23336369
RGD:13464328 , RGD:126781714
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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Aipl1
aryl hydrocarbon receptor-interacting protein-like 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:24426771 PMID:28492532
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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Aspa
aspartoacylase
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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Gnb5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
OMIM ClinVar
PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 PMID:36474027 More...
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Lsm10
LSM10, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
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Med23
mediator complex subunit 23
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
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Mpc1
mitochondrial pyruvate carrier 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
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Myo18b
myosin XVIIIb
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Spata22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
PMID:28492532
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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Tlcd3a
TLC domain containing 3A
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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Zxda
zinc finger, X-linked, duplicated A
ISO
ClinVar Annotator: match by term: Fraser syndrome 3
ClinVar
NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
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Frem1
Fras1 related extracellular matrix 1
ISO
DNA:deletion, frame shift:cds, splice junction: DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)
RGD
PMID:23221805 PMID:23536828
RGD:11554181 , RGD:11554185
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Frem2
FRAS1 related extracellular matrix 2
ISO ISS
OMIM:123570 ClinVar Annotator: match by term: Isolated cryptophthalmia
OMIM MouseDO ClinVar
PMID:9536098 PMID:17576681 PMID:18203166 PMID:24115501 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30802441 PMID:30838450 More...
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all