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
Accession: DOID:3165
browse the term
Definition: A benign proliferation in the skin.
Synonyms: exact_synonym: benign neoplasm of skin; benign tumor of skin
xref: NCI:C3372
For additional species annotation, visit the
Alliance of Genome Resources .
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Hras
HRas proto-oncogene, GTPase
ISO
associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human)
RGD
PMID:22683711
RGD:11098548
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Gla
galactosidase, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19925601
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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Naga
alpha-N-acetylgalactosaminidase
ISO
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W
RGD
PMID:8040340
RGD:1600558
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a
CD8a molecule
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:69,614,744...69,622,570
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Capillary hemangioma
ClinVar
PMID:25741868
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Cerebellar hemangioblastoma
ClinVar
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Tmem207
transmembrane protein 207
ISS
MouseDO
NCBI chr11:74,251,042...74,270,180
Ensembl chr11:74,250,815...74,270,680
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Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
OMIM ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
OMIM ClinVar
PMID:10084299 PMID:12426567 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Cib1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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Rhoh
ras homolog family member H
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
ClinVar OMIM
PMID:22850876
NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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Il7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Antxr1
ANTXR cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
OMIM ClinVar
PMID:18931684
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
OMIM ClinVar
PMID:11807987 PMID:25741868 PMID:28492532
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
OMIM ClinVar
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Brd7
bromodomain containing 7
ISO
ClinVar Annotator: match by term: malignant granular cell tumor
ClinVar
NCBI chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
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Fhit
fragile histidine triad diadenosine triphosphatase
ISS
OMIM:158320
MouseDO
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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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:1756143 PMID:4063166 PMID:7705822 PMID:7728749 PMID:8145827 PMID:8198129 PMID:8751876 PMID:8776590 PMID:8797773 PMID:8872463 PMID:8938136 PMID:9311737 PMID:9322509 PMID:9377556 PMID:9490293 PMID:9506527 PMID:9697702 PMID:10037723 PMID:10323887 PMID:10422993 PMID:10495924 PMID:10534773 PMID:10573010 PMID:10713887 PMID:10970186 PMID:11179758 PMID:11208710 PMID:11376800 PMID:11524701 PMID:11555625 PMID:11585727 PMID:11601928 PMID:11781295 PMID:11793442 PMID:11920650 PMID:11948175 PMID:12095971 PMID:12362047 PMID:12386821 PMID:12547705 PMID:12555990 PMID:12624141 PMID:12658575 PMID:12810663 PMID:14635101 PMID:14699485 PMID:15173238 PMID:15254659 PMID:15475387 PMID:15520370 PMID:15713769 PMID:15731775 PMID:15765394 PMID:15849733 PMID:15864295 PMID:15870828 PMID:15872200 PMID:15926618 PMID:15955785 PMID:15996210 PMID:16083711 PMID:16199547 PMID:16216036 PMID:16395668 PMID:16451135 PMID:16736289 PMID:16995940 PMID:17054581 PMID:17135187 PMID:17192056 PMID:17199584 PMID:17210669 PMID:17312306 PMID:17348456 PMID:17510385 PMID:17569143 PMID:18033691 PMID:18205192 PMID:18383312 PMID:18518984 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18931482 PMID:19072991 PMID:19116412 PMID:19419416 PMID:19526325 PMID:19690142 PMID:19698169 PMID:20020535 PMID:20587412 PMID:20682701 PMID:20864636 PMID:20937110 PMID:21404117 PMID:21520333 PMID:21598002 PMID:21636617 PMID:21671475 PMID:21681552 PMID:21952876 PMID:22252508 PMID:22290698 PMID:22691310 PMID:22703879 PMID:22736432 PMID:22753075 PMID:22776989 PMID:22843852 PMID:22949379 PMID:23047549 PMID:23354017 PMID:23403630 PMID:23695190 PMID:23729658 PMID:23747338 PMID:24033266 PMID:24096645 PMID:24278394 PMID:24323032 PMID:24344984 PMID:24362816 PMID:24728327 PMID:25133505 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26053027 PMID:26247049 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26666765 PMID:26681312 PMID:26895986 PMID:26898890 PMID:27064304 PMID:27498913 PMID:27600092 PMID:27601186 PMID:27647783 PMID:27978560 PMID:28157215 PMID:28445943 PMID:28492532 PMID:28514183 PMID:28767289 PMID:28874130 PMID:29520894 PMID:29887214 PMID:30274973 PMID:30504929 PMID:30521064 PMID:30998989 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31784484 PMID:32295079 PMID:32659497 PMID:32986223 PMID:33471991 PMID:33821390 PMID:33868589 More...
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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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:7585065 PMID:7713503 PMID:8566964 PMID:8592341 PMID:9002677 PMID:9217825 PMID:9288790 PMID:9718327 PMID:10080150 PMID:10323887 PMID:10375096 PMID:10397236 PMID:11151427 PMID:11291077 PMID:11601928 PMID:12132870 PMID:12362047 PMID:12624141 PMID:14994245 PMID:15235030 PMID:15655560 PMID:15849733 PMID:15872200 PMID:15942939 PMID:16216036 PMID:16451135 PMID:16636019 PMID:16736289 PMID:16830052 PMID:16996571 PMID:17250661 PMID:17312306 PMID:17473388 PMID:17569143 PMID:18270343 PMID:18289827 PMID:18772310 PMID:19419416 PMID:19731080 PMID:20007843 PMID:21387278 PMID:21598002 PMID:21642682 PMID:21868491 PMID:22034109 PMID:23229822 PMID:23990280 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24549055 PMID:24851142 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25741868 PMID:26437257 PMID:26467025 PMID:27329137 PMID:27606285 PMID:28449805 PMID:28492532 PMID:28874130 PMID:28944238 PMID:29489754 PMID:29575718 PMID:29889250 PMID:30274973 PMID:30521064 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome
ClinVar
PMID:23636874 PMID:27139419
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma
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:23033978 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27959697 PMID:28492532 PMID:28575650 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: MUTYH-associated polyposis | ClinVar Annotator: match by term: Pilomatrixoma
ClinVar
PMID:11801590 PMID:11818965 PMID:12606733 PMID:15673720 PMID:15931596 PMID:15987719 PMID:16140997 PMID:16492921 PMID:16557584 PMID:16616356 PMID:17489848 PMID:17956577 PMID:18506705 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19394335 PMID:19531215 PMID:19620482 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20687945 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24728327 PMID:24733792 PMID:24953332 PMID:25741868 PMID:25820570 PMID:25937855 PMID:26202870 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27153395 PMID:27829682 PMID:28135145 PMID:28152038 PMID:28492532 PMID:28634180 PMID:28687356 PMID:28944238 PMID:29766397 PMID:29978187 PMID:30067863 PMID:30306255 PMID:30322717 PMID:30333958 PMID:30604180 PMID:30609409 PMID:30676620 PMID:31263571 More...
NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
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Ovol1
ovo like transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873447
NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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Ovol2
ovo-like zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873447
NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
OMIM ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:26387786 PMID:28492532 PMID:28972005 PMID:29743074 PMID:32581362 More...
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
OMIM ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28166811 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30569517 PMID:30974434 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:12354803
RGD:8662839
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16565724
NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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Anxa1
annexin A1
ISO
RGD
PMID:8919037
RGD:7421562
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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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 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis
OMIM ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 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:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Skin hemangioma
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Hras
HRas proto-oncogene, GTPase
ISO
associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human)
RGD
PMID:24890286
RGD:12738400
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:kidney:
RGD
PMID:22299048
RGD:11041600
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
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Mmp3
matrix metallopeptidase 3
onset
ISO
RGD
PMID:19551141
RGD:7241233
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Slc18a1
solute carrier family 18 member A1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:16189177
RGD:5131200
NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar 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:8641695 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:9447969 PMID:9452032 PMID:9536098 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:10955664 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:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11865071 PMID:11896624 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:12603429 PMID:12624160 PMID:12629069 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:14965365 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:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16595991 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:17576681 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:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20120764 PMID:20151405 PMID:20223044 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:21791076 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:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23541568 PMID:23606570 PMID:23626751 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:24115288 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:24779271 PMID:24969085 PMID:25078357 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25741896 PMID:25825477 PMID:25867206 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 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:28166811 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:29595810 PMID:29616089 PMID:29748190 PMID:29749453 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29949369 PMID:29978187 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30338240 PMID:30877234 PMID:30900640 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31132167 PMID:31149315 PMID:31350093 PMID:31383958 PMID:31397861 PMID:31528828 PMID:31779674 PMID:32106822 PMID:32238909 PMID:33004005 PMID:33362715 PMID:33720516 PMID:34439168 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28166811 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:12692554 More...
RGD:734860
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dars1
aspartyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
ClinVar
PMID:28492532
NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all