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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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Cerebellar hemangioblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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Ccm2
CCM2 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860
MouseDO ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 , PMID:14755725 , PMID:15079030
RGD:1358458 , RGD:1598379
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:28492532
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
ClinVar OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
OMIM ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
OMIM ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
ClinVar
PMID:18060436 PMID:20623299 PMID:28492532
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
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