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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:skin benign neoplasm
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Accession:DOID:3165 term browser browse the term
Definition:A benign proliferation in the skin.
Synonyms:exact_synonym: benign neoplasm of skin;   benign tumor of skin;   neoplasm of skin;   neoplasm of skin by site;   skin neoplasm;   tumor of the skin
 primary_id: RDO:9000113
 xref: NCI:C3372
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il12b interleukin 12b treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:12,189,694...12,236,506
Ensembl chr18:12,189,692...12,236,400
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:18931684 NCBI chr 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr11:49,609,679...49,652,739
Ensembl chr11:49,609,263...49,652,739
JBrowse link
G Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089
OMIM
ClinVar
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem207 transmembrane protein 207 IEA MouseDO NCBI chr16:26,503,793...26,526,771
Ensembl chr16:26,503,656...26,526,769
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567, PMID:22158547, PMID:25741868, PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567, PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299, PMID:12426567, PMID:28646613 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 (calmyrin) ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581, PMID:19702156, PMID:20982046, PMID:21196704, PMID:28646613, PMID:30068544 NCBI chr 7:80,227,156...80,232,805
Ensembl chr 7:80,227,147...80,232,813
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 5:65,860,742...65,896,700
Ensembl chr 5:65,861,213...65,896,700
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,929,318...66,969,641
Ensembl chr15:66,929,318...66,969,640
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Cutaneous leiomyoma
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar PMID:11865300, PMID:12761039, PMID:16575891, PMID:21929734, PMID:22069215, PMID:22595425, PMID:22703879, PMID:24728327, PMID:25741868, PMID:27037871, PMID:28492532, PMID:29909963, PMID:30967997 NCBI chr 1:175,601,378...175,625,635
Ensembl chr 1:175,600,374...175,625,635
JBrowse link
Malignant Granular Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr 8:88,329,894...88,362,252
Ensembl chr 8:88,331,039...88,362,194
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad gene IEA OMIM:158320 MouseDO NCBI chr14:9,550,092...11,162,061
Ensembl chr14:9,550,092...11,162,035
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:16, PMID:1522200, PMID:4063166, PMID:5713769, PMID:7705822, PMID:8198129, PMID:8751876, PMID:8880570, PMID:9377556, PMID:9526167, PMID:9697702, PMID:9777949, PMID:10037723, PMID:10348818, PMID:10422993, PMID:10612827, PMID:10713887, PMID:10861474, PMID:10995807, PMID:11139242, PMID:11208710, PMID:11427529, PMID:11585727, PMID:11726306, PMID:11748856, PMID:11839723, PMID:11920458, PMID:11920650, PMID:12037578, PMID:12095971, PMID:12362047, PMID:12624141, PMID:12658575, PMID:12810663, PMID:12874865, PMID:14635101, PMID:14762794, PMID:15139004, PMID:15173238, PMID:15184898, PMID:15222003, PMID:15254659, PMID:15340264, PMID:15345113, PMID:15475387, PMID:15520370, PMID:15613555, PMID:15713769, PMID:15845562, PMID:15849733, PMID:15864295, PMID:15870828, PMID:15991306, PMID:15996210, PMID:16083711, PMID:16142001, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16288214, PMID:16341550, PMID:16395668, PMID:16451135, PMID:16724012, PMID:16995940, PMID:17054581, PMID:17074586, PMID:17117178, PMID:17192056, PMID:17210669, PMID:17250665, PMID:17312306, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17594722, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18307539, PMID:18383312, PMID:18389388, PMID:18561205, PMID:18566915, PMID:18726168, PMID:18809606, PMID:19116412, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19419416, PMID:19669161, PMID:19690142, PMID:19697156, PMID:20373145, PMID:20533529, PMID:20858721, PMID:21034533, PMID:21120944, PMID:21404117, PMID:21475916, PMID:21636617, PMID:21642682, PMID:21681552, PMID:22086678, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22776989, PMID:22875147, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23354017, PMID:23403630, PMID:23523604, PMID:23729658, PMID:23760103, PMID:24032978, PMID:24033266, PMID:24090359, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24549055, PMID:24728327, PMID:24933000, PMID:25115387, PMID:25133505, PMID:25142776, PMID:25157968, PMID:25186627, PMID:25430799, PMID:25477341, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25579085, PMID:25741868, PMID:25823662, PMID:25871621, PMID:25980754, PMID:26053027, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26467025, PMID:26485756, PMID:26580448, PMID:26681312, PMID:26817999, PMID:26845104, PMID:26898890, PMID:26976419, PMID:27064304, PMID:27121310, PMID:27152634, PMID:27498913, PMID:27601186, PMID:27629256, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28135145, PMID:28466842, PMID:28492532, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:29288294, PMID:29360550, PMID:29419868, PMID:29520894, PMID:29596542, PMID:29887214, PMID:30093976, PMID:30720243, PMID:30998989, PMID:31391288, PMID:31784484, PMID:32566746 NCBI chr 9:111,228,228...111,271,786
Ensembl chr 9:111,228,228...111,271,791
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:6096739, PMID:7585065, PMID:7713503, PMID:8062247, PMID:8261515, PMID:8566964, PMID:8592341, PMID:8993976, PMID:9002677, PMID:9217825, PMID:9288790, PMID:9718327, PMID:9739019, PMID:10080150, PMID:10323887, PMID:10375096, PMID:10397236, PMID:10480359, PMID:10528862, PMID:10573010, PMID:10793088, PMID:10978353, PMID:11151427, PMID:11291077, PMID:11601928, PMID:11691782, PMID:12112654, PMID:12132870, PMID:12362047, PMID:12454801, PMID:12522549, PMID:12624141, PMID:12658575, PMID:14970868, PMID:14994245, PMID:15235030, PMID:15254659, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15872200, PMID:15929773, PMID:15942939, PMID:15955785, PMID:16034045, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16395668, PMID:16451135, PMID:16574953, PMID:16614121, PMID:16636019, PMID:16736289, PMID:16830052, PMID:16996571, PMID:17101317, PMID:17192056, PMID:17250661, PMID:17312306, PMID:17414604, PMID:17473388, PMID:17569143, PMID:17594722, PMID:17720936, PMID:18033691, PMID:18270343, PMID:18289827, PMID:18325052, PMID:18383312, PMID:18674656, PMID:18772310, PMID:18951462, PMID:19101824, PMID:19267393, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19669161, PMID:19698169, PMID:19723918, PMID:19731080, PMID:19760518, PMID:20007843, PMID:20068152, PMID:20176959, PMID:20223024, PMID:20587412, PMID:20591884, PMID:20850175, PMID:21120944, PMID:21239990, PMID:21419771, PMID:21590452, PMID:21598002, PMID:21642682, PMID:21681552, PMID:21788563, PMID:21926548, PMID:22034109, PMID:22039344, PMID:22102614, PMID:22144684, PMID:22219001, PMID:22290698, PMID:22581703, PMID:22703879, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24278394, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24415873, PMID:24474082, PMID:24506336, PMID:24549055, PMID:24710284, PMID:24728327, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25093288, PMID:25110875, PMID:25117503, PMID:25133505, PMID:25194673, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26094658, PMID:26096739, PMID:26250988, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26437257, PMID:26467025, PMID:26517685, PMID:26580448, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26951660, PMID:27016151, PMID:27153395, PMID:27328445, PMID:27600092, PMID:27601186, PMID:27606285, PMID:28125075, PMID:28195393, PMID:28202063, PMID:28449805, PMID:28492532, PMID:28494185, PMID:28640387, PMID:28767289, PMID:28874130, PMID:28944238, PMID:29212164, PMID:29238914, PMID:29368341, PMID:29458332, PMID:29489754, PMID:29684080, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30093976, PMID:30131383, PMID:30238922, PMID:30306255, PMID:30374176, PMID:30376427, PMID:30998989, PMID:31366136, PMID:31422574 NCBI chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr 1:63,200,358...63,314,576
Ensembl chr 1:63,273,265...63,314,576
JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Pilomatrixoma
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
OMIM
ClinVar
PMID:9065402, PMID:9065403, PMID:9294210, PMID:9927029, PMID:10027390, PMID:10192393, PMID:10391090, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-associated polyposis
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
ClinVar PMID:2084865, PMID:3561487, PMID:11818965, PMID:12393807, PMID:12606733, PMID:12853198, PMID:15188161, PMID:15236166, PMID:15366000, PMID:15635083, PMID:15890374, PMID:15931596, PMID:15987719, PMID:16134147, PMID:16140997, PMID:16207212, PMID:16287072, PMID:16338133, PMID:16455870, PMID:16492921, PMID:16557584, PMID:16616356, PMID:16890597, PMID:16941501, PMID:17081686, PMID:17122612, PMID:17161978, PMID:17219385, PMID:17273161, PMID:17368238, PMID:17369389, PMID:17489848, PMID:17581577, PMID:17674103, PMID:17703316, PMID:17874208, PMID:17931073, PMID:17949294, PMID:17956577, PMID:18091433, PMID:18301448, PMID:18414213, PMID:18422726, PMID:18495334, PMID:18506705, PMID:18515411, PMID:18534194, PMID:18564191, PMID:18787472, PMID:18992148, PMID:19032956, PMID:19245865, PMID:19279422, PMID:19394335, PMID:19506731, PMID:19527492, PMID:19531215, PMID:19725997, PMID:19732775, PMID:19793053, PMID:19806110, PMID:19836313, PMID:19953527, PMID:19998059, PMID:20063264, PMID:20418187, PMID:20618354, PMID:20663686, PMID:20725929, PMID:20848659, PMID:21063410, PMID:21171015, PMID:21178863, PMID:21443744, PMID:21520333, PMID:21815886, PMID:21952991, PMID:22158503, PMID:22266422, PMID:22297469, PMID:22473953, PMID:22538434, PMID:22703879, PMID:22744763, PMID:22773231, PMID:22865608, PMID:22926731, PMID:22976915, PMID:23035301, PMID:23108399, PMID:23322991, PMID:23361220, PMID:23507534, PMID:23561487, PMID:23605219, PMID:23625202, PMID:23729658, PMID:23805267, PMID:24033266, PMID:24082139, PMID:24278394, PMID:24444654, PMID:24470512, PMID:24569162, PMID:24691292, PMID:24728327, PMID:24763289, PMID:24799981, PMID:24953332, PMID:25368107, PMID:25525159, PMID:25590978, PMID:25637381, PMID:25741868, PMID:25820570, PMID:25892863, PMID:25980754, PMID:26446593, PMID:26467025, PMID:26556299, PMID:26673696, PMID:26681312, PMID:26689913, PMID:26694661, PMID:26822237, PMID:26845104, PMID:26902849, PMID:27145315, PMID:27194394, PMID:27705013, PMID:27829682, PMID:27870730, PMID:28135145, PMID:28141798, PMID:28152038, PMID:28251689, PMID:28492532, PMID:28533537, PMID:28634180, PMID:29330641, PMID:29406563, PMID:29478780, PMID:30311386, PMID:30487145 NCBI chr 4:116,807,636...116,819,439
Ensembl chr 4:116,807,723...116,819,440
JBrowse link
G Ovol1 ovo like zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr19:5,549,137...5,560,575
Ensembl chr19:5,549,136...5,560,646
JBrowse link
G Ovol2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 2:144,305,175...144,332,080
Ensembl chr 2:144,305,175...144,332,146
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810
OMIM
ClinVar
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
sebaceous gland neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO RGD PMID:12354803 RGD:8662839 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 3:131,110,297...131,224,357
Ensembl chr 3:131,110,471...131,224,356
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Seborrheic keratosis
ClinVar Annotator: match by term: Keratosis, seborrheic
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532, PMID:31775759 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,807,452...32,891,609
Ensembl chr 8:31,814,551...32,884,797
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569, PMID:11459873, PMID:12097293, PMID:23502783, PMID:24870244 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:86,753,864...86,833,410
Ensembl chr17:86,753,700...86,833,410
JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,037,708...69,089,238
Ensembl chr 8:69,037,711...69,089,235
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
IEA
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
ClinVar Annotator: match by OMIM:193300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:982991, PMID:1056348, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7759077, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069849, PMID:8187067, PMID:8239848, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8550742, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9143408, PMID:9156047, PMID:9209471, PMID:9215674, PMID:9329368, PMID:9398721, PMID:9399847, PMID:9435426, PMID:9452032, PMID:9663592, PMID:9671762, PMID:9681856, PMID:9751722, PMID:9770531, PMID:9829911, PMID:9829912, PMID:9880225, PMID:10088816, PMID:10102622, PMID:10205047, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10533030, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10581162, PMID:10587522, PMID:10612827, PMID:10627136, PMID:10697963, PMID:10761708, PMID:10766184, PMID:10823831, PMID:10878807, PMID:10900011, PMID:11058902, PMID:11106358, PMID:11114638, PMID:11171960, PMID:11257211, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11483638, PMID:11505222, PMID:11536052, PMID:11688398, PMID:11709017, PMID:11739384, PMID:11865071, PMID:11921283, PMID:11987242, PMID:12000816, PMID:12004076, PMID:12050673, PMID:12056827, PMID:12081237, PMID:12114475, PMID:12114495, PMID:12202531, PMID:12351569, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12500216, PMID:12510195, PMID:12538644, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:12853836, PMID:12912922, PMID:13985160, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15109448, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15611064, PMID:15642664, PMID:15642680, PMID:15881703, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16261165, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16502427, PMID:16505488, PMID:16572651, PMID:16669786, PMID:16775032, PMID:16809612, PMID:16847331, PMID:16868829, PMID:16884327, PMID:16952288, PMID:16969113, PMID:17001110, PMID:17024664, PMID:17060462, PMID:17102069, PMID:17102082, PMID:17102083, PMID:17264095, PMID:17350623, PMID:17406817, PMID:17407064, PMID:17526729, PMID:17640059, PMID:17661816, PMID:17688370, PMID:17906660, PMID:17919893, PMID:17922902, PMID:17967880, PMID:17992257, PMID:17997830, PMID:18205710, PMID:18209888, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19096585, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19258401, PMID:19270817, PMID:19280651, PMID:19293973, PMID:19304954, PMID:19309509, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19620968, PMID:19763184, PMID:19764026, PMID:19808854, PMID:19906784, PMID:19949673, PMID:19958924, PMID:19996202, PMID:20034980, PMID:20054297, PMID:20120764, PMID:20151405, PMID:20233476, PMID:20351605, PMID:20388653, PMID:20447124, PMID:20518900, PMID:20560986, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20850701, PMID:20855504, PMID:20952280, PMID:21204227, PMID:21258414, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21463266, PMID:21606165, PMID:21685897, PMID:21713522, PMID:21715564, PMID:21784903, PMID:21876117, PMID:21972040, PMID:21993671, PMID:22071692, PMID:22105611, PMID:22105711, PMID:22156657, PMID:22234250, PMID:22241717, PMID:22357542, PMID:22393103, PMID:22438210, PMID:22462637, PMID:22517557, PMID:22649785, PMID:22683710, PMID:22799452, PMID:22825683, PMID:23015148, PMID:23036577, PMID:23070752, PMID:23102223, PMID:23298237, PMID:23315997, PMID:23318261, PMID:23384228, PMID:23403324, PMID:23434161, PMID:23512077, PMID:23541568, PMID:23606570, PMID:23660872, PMID:23673869, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:23990664, PMID:23990666, PMID:24033266, PMID:24055113, PMID:24102379, PMID:24132471, PMID:24134185, PMID:24206762, PMID:24301059, PMID:24339559, PMID:24446253, PMID:24466223, PMID:24555745, PMID:24581539, PMID:24583008, PMID:24678776, PMID:24707167, PMID:24727139, PMID:24728327, PMID:24729484, PMID:24969085, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25282218, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25715769, PMID:25720320, PMID:25741868, PMID:25867206, PMID:25952756, PMID:25966224, PMID:25985138, PMID:26206375, PMID:26211615, PMID:26268347, PMID:26332594, PMID:26467025, PMID:26503325, PMID:26580448, PMID:26681312, PMID:26763786, PMID:26822237, PMID:26845104, PMID:26920352, PMID:26973240, PMID:27034144, PMID:27057652, PMID:27146957, PMID:27179072, PMID:27311873, PMID:27439424, PMID:27498913, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27617348, PMID:27651169, PMID:27730413, PMID:27785399, PMID:28052007, PMID:28202063, PMID:28349240, PMID:28379443, PMID:28388566, PMID:28454591, PMID:28469506, PMID:28492532, PMID:28503092, PMID:28643803, PMID:28775317, PMID:28873162, PMID:28944243, PMID:29124493, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29871882, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30311386, PMID:30338240, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31779674, PMID:32238909 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO
IEA
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by OMIM:193670
OMIM
ClinVar
MouseDO
CTD
PMID:12692554, PMID:15536153, PMID:16899028, PMID:18436740, PMID:19956569, PMID:23734232, PMID:23794067, PMID:25662009, PMID:25741868, PMID:28492532, PMID:12692554 RGD:734860 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Dars aspartyl-tRNA synthetase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,363,707...128,417,416
Ensembl chr 1:128,363,707...128,417,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    sensory system disease 5035
      skin disease 2629
        Skin Neoplasms 234
          skin benign neoplasm 53
            Benign Skin Neoplasms, Epithelial + 17
            angiokeratoma of Fordyce + 0
            benign dermal neurilemmoma 0
            clear cell acanthoma 0
            cutaneous fibrous histiocytoma 0
            cutaneous ganglioneuroma 0
            dermis tumor + 1
            dermoid cyst of skin 0
            epidermal appendage tumor 1
            eyelid benign neoplasm + 2
            granular cell tumor + 1
            hair follicle neoplasm + 5
            sebaceous gland neoplasm + 5
            seborrheic keratosis + 3
            skin glomangioma + 0
            skin granular cell tumor 0
            skin hemangioma + 17
            skin lipoma 0
            skin meningioma 0
            sweat gland benign neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      nervous system disease 10435
        sensory system disease 5035
          skin disease 2629
            Skin Neoplasms 234
              skin benign neoplasm 53
                Benign Skin Neoplasms, Epithelial + 17
                angiokeratoma of Fordyce + 0
                benign dermal neurilemmoma 0
                clear cell acanthoma 0
                cutaneous fibrous histiocytoma 0
                cutaneous ganglioneuroma 0
                dermis tumor + 1
                dermoid cyst of skin 0
                epidermal appendage tumor 1
                eyelid benign neoplasm + 2
                granular cell tumor + 1
                hair follicle neoplasm + 5
                sebaceous gland neoplasm + 5
                seborrheic keratosis + 3
                skin glomangioma + 0
                skin granular cell tumor 0
                skin hemangioma + 17
                skin lipoma 0
                skin meningioma 0
                sweat gland benign neoplasm + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.