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.
Term: Pigmented Nevus
Accession: DOID:9005120
browse the term
Definition: A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi.
Synonyms: exact_synonym: Melanocytic Nevi; Melanocytic Nevus; Pigmented Moles; Pigmented Nevi
primary_id: MESH:D009508
xref: EFO:0009676
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: PIGMENTED MOLES
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: PIGMENTED MOLES
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: PIGMENTED MOLES
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Blue rubber bleb nevus
ClinVar
NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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Tek
TEK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Blue rubber bleb nevus
ClinVar
PMID:10369874 PMID:20301733 PMID:25741868
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31394527 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31394527 PMID:32165824 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus
OMIM CTD ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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