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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Localized skin lesion
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Accession:HP:0011355 term browser browse the term
Definition:A lesion of the skin that is located in a specific region rather than being generalized.
Synonyms:exact_synonym: Localised skin lesion
 xref: UMLS:C0850826



show annotations for term's descendants           Sort by:
Localized skin lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 no_association IAGP DNA:mutations:exon, intron:multiple
DNA:mutations:multiple
DNA:SNPs:promoter:c.-127C>T, c.-132C>T
DNA:nonsense mutation:exon:p.R1141X (3421C>T)
RGD PMID:17617515 PMID:16835894 PMID:16835894 PMID:12714611 RGD:11038781, RGD:11038786, RGD:11038786, RGD:11038782 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ACE angiotensin I converting enzyme no_association IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:15045629 RGD:8142349 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:79406 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79409 ORPHA:79410 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COMT catechol-O-methyltransferase severity IAGP DNA:missense mutation:cds: (rs4680) RGD PMID:20184498 RGD:8662334 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G FLNA filamin A IAGP HPO MIM:300244 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP HPO ORPHA:83454 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G GNA14 G protein subunit alpha 14 IAGP HPO ORPHA:1063 NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*5801 (Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02
RGD PMID:19018717 PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096
JBrowse link
G IL13 interleukin 13 susceptibility IAGP DNA:missense mutation:cds: (rs20541) RGD PMID:23617596 RGD:8549593 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP DNA:SNPs, haplotype:promoter:multiple HPO
RGD
PMID:20541540 ORPHA:371428, RGD:8657064 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP associated with PFAPA Syndrome; RGD PMID:21914217 RGD:13204855 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP DNA:snp:cds:p.E298D RGD PMID:11908569 RGD:7771576 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
Acral ulceration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCT5 chaperonin containing TCP1 subunit 5 IAGP HPO MIM:256840 ORPHA:139578 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
JBrowse link
G KIF1A kinesin family member 1A IAGP HPO MIM:201300 MIM:614213 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
JBrowse link
G NGF nerve growth factor IAGP HPO MIM:608654 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO MIM:256800 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP HPO MIM:201300 MIM:613115 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO MIM:201300 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO MIM:162400 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G WNK1 WNK lysine deficient protein kinase 1 IAGP HPO MIM:201300 NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
JBrowse link
Acrokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IAGP HPO MIM:101900 MIM:124200 ORPHA:218 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G LTV1 LTV1 ribosome biogenesis factor IAGP HPO MIM:620199 NCBI chr 6:143,843,338...143,863,812
Ensembl chr 6:143,843,338...143,863,812
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO MIM:158350 ORPHA:65285 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
Annular cutaneous lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDHA lactate dehydrogenase A IAGP HPO ORPHA:284426 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
JBrowse link
G POMP proteasome maturation protein IAGP HPO MIM:618048 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
JBrowse link
Aplasia cutis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79499 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G BMS1 BMS1 ribosome biogenesis factor IAGP ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar
HPO
PMID:23785305 PMID:25741868 ORPHA:1114 NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 ORPHA:79402 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:79411 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:1114 ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP DNA:mutations:cds: HPO
RGD
PMID:25824905 MIM:614219 ORPHA:974, RGD:155791566 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G DSP desmoplakin IAGP HPO MIM:609638 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO MIM:615297 ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO ORPHA:79403 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:1114 ORPHA:158684 ORPHA:251393 ORPHA:79402 ORPHA:79403 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79402 ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79402 ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79402 ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO MIM:616028 ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PLEC plectin IAGP HPO MIM:612138 ORPHA:1114 ORPHA:158684 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO MIM:614814 ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO MIM:300966 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,136...71,532,374
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO ORPHA:1114 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
JBrowse link
Aplasia cutis congenita of scalp term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO MIM:609597 ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO MIM:616589 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO MIM:619817 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:158684 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO MIM:168500 ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PLEC plectin IAGP HPO ORPHA:158684 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO MIM:619959 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
Aplasia cutis congenita on trunk or limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO MIM:619817 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO MIM:226730 ORPHA:158684 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 ORPHA:89838 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G PLEC plectin IAGP HPO MIM:226730 ORPHA:158684 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
Aplasia cutis congenita over posterior parietal area term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
Aplasia cutis congenita over the scalp vertex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMS1 BMS1 ribosome biogenesis factor IAGP HPO MIM:107600 ORPHA:1114 NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
JBrowse link
G CDH1 cadherin 1 IAGP HPO MIM:119580 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:1114 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:1114 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G PLEC plectin IAGP HPO ORPHA:1114 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO ORPHA:1114 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
JBrowse link
Aplasia/Hypoplasia of the skin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 IAGP HPO ORPHA:2028 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ARL6IP6 ARF like GTPase 6 interacting protein 6 IAGP HPO ORPHA:1556 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:2500 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2833 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:1556 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:3339 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:1366 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:735 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
JBrowse link
G PLEC plectin IAGP HPO ORPHA:257 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PMVK phosphomevalonate kinase IAGP HPO ORPHA:735 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP HPO ORPHA:745 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
G PROS1 protein S IAGP HPO ORPHA:743 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G SMARCAD1 SNF2 related chromatin remodeling ATPase with DExD box 1 IAGP HPO ORPHA:384 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:1231 ORPHA:1807 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Asymmetric, linear skin defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 MIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G HCCS holocytochrome c synthase IAGP HPO MIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO MIM:300952 MIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
Atheroeruptive xanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA5 apolipoprotein A5 IAGP HPO MIM:145750 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
JBrowse link
Atrophic scars term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO MIM:182410 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO MIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO MIM:618000 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO MIM:615349 ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO MIM:130070 ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G C1R complement C1r IAGP HPO MIM:130080 ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO MIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:601776 ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO MIM:616471 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:79402 ORPHA:79406 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:130060 ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:225320 MIM:617821 ORPHA:230851 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:619329 ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO MIM:130010 ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO MIM:131705 MIM:131750 MIM:131850 MIM:226600 ORPHA:231568 ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 ORPHA:89843 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO MIM:615539 ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
JBrowse link
G DST dystonin IAGP HPO MIM:615425 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO MIM:614557 ORPHA:300179 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
JBrowse link
G FLG filaggrin IAGP ClinVar Annotator: match by term: Thin, atrophic scars ClinVar PMID:25741868 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO MIM:226730 ORPHA:158684 ORPHA:79402 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G KRT14 keratin 14 IAGP HPO MIM:131760 ORPHA:79396 ORPHA:79400 ORPHA:89838 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO MIM:131760 ORPHA:79396 ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO MIM:226700 ORPHA:79402 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:226700 ORPHA:79402 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO MIM:226700 ORPHA:79402 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G LRP1 LDL receptor related protein 1 IAGP HPO ORPHA:79100 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO MIM:226600 ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G PLEC plectin IAGP HPO MIM:226730 ORPHA:158684 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO MIM:613795 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TNXB tenascin XB IAGP HPO MIM:606408 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
Atrophodermia vermiculata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 IAGP ClinVar Annotator: match by term: Atrophodermia vermiculata ClinVar PMID:26142438 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP HPO MIM:618803 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
JBrowse link
Atypical nevi in non-sun exposed areas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:155600 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP HPO MIM:609048 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:155600 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
Atypical nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:155600 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP HPO MIM:609048 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:155600 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
Atypical scarring of skin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 IAGP HPO MIM:618000 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
JBrowse link
G C1S complement C1s IAGP HPO MIM:617174 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G COL17A1 collagen type XVII alpha 1 chain IAGP HPO ORPHA:251393 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:231568 ORPHA:79410 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO ORPHA:90186 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO ORPHA:2908 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:251393 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LSS lanosterol synthase IAGP HPO ORPHA:1366 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G NCSTN nicastrin IAGP HPO MIM:142690 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:284984 ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO MIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288
JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO MIM:229200 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
JBrowse link
Blue nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP6 ARF like GTPase 6 interacting protein 6 IAGP HPO ORPHA:1556 NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP HPO MIM:617798 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
JBrowse link
G FOCAD focadhesin IAGP HPO MIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:1556 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309155 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G PDE11A phosphodiesterase 11A IAGP HPO ORPHA:1359 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1359 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G TASP1 taspase 1 IAGP HPO MIM:618950 NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
JBrowse link
G TYRP1 tyrosinase related protein 1 IAGP HPO ORPHA:79433 NCBI chr 9:12,693,385...12,710,285
Ensembl chr 9:12,685,439...12,710,285
JBrowse link
Cafe-au-lait spot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO MIM:619719 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO MIM:618625 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 More... NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO MIM:605724 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO MIM:620183 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
JBrowse link
G CAPRIN1 cell cycle associated protein 1 IAGP HPO MIM:620782 NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610
JBrowse link
G CBL Cbl proto-oncogene IAGP HPO MIM:613563 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:397590 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO MIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO MIM:618541 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
JBrowse link
G COPB1 COPI coat complex subunit beta 1 IAGP HPO MIM:619255 NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:180849 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP HPO MIM:250410 ORPHA:166035 NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
JBrowse link
G FANCA FA complementation group A IAGP HPO MIM:227650 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO MIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP HPO MIM:600901 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP HPO MIM:603467 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCI FA complementation group I IAGP HPO MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP HPO MIM:614083 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO MIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO ORPHA:210548 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:397590 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO ORPHA:73272 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 ORPHA:397590 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:620668 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KDM6B lysine demethylase 6B IAGP HPO MIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KITLG KIT ligand IAGP HPO MIM:145250 MIM:619947 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 MIM:616564 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO MIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO MIM:615280 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO MIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G MAX MYC associated factor X IAGP HPO MIM:171300 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:300895 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 ORPHA:457485 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G NBN nibrin IAGP HPO MIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar
HPO
PMID:9536098 PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 More... MIM:162210 ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO MIM:101000 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:613224 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO MIM:610832 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PHIP pleckstrin homology domain interacting protein IAGP HPO MIM:617991 ORPHA:589905 NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287
JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO ORPHA:397590 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP HPO MIM:618336 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO MIM:617506 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:210548 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar
HPO
PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... MIM:151100 MIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO MIM:611553 MIM:611554 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RET ret proto-oncogene IAGP HPO MIM:171300 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:436151 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP HPO MIM:249420 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO MIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
G SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO MIM:222470 ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
JBrowse link
G SLC9A1 solute carrier family 9 member A1 IAGP HPO MIM:616291 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
G SLF2 SMC5-SMC6 complex localization factor 2 IAGP HPO MIM:620184 NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO MIM:613951 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:601358 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO MIM:611584 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO MIM:611431 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
G STEAP3 STEAP3 metalloreductase IAGP HPO MIM:615234 ORPHA:300298 NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO MIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO MIM:171300 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TOMM7 translocase of outer mitochondrial membrane 7 IAGP HPO MIM:620601 NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849
JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO MIM:618097 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar
HPO
PMID:25741868 PMID:28492532 PMID:30311386 MIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO MIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:171300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
JBrowse link
G WASF1 WASP family member 1 IAGP HPO MIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO MIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486
JBrowse link
Capillary malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO MIM:618196 ORPHA:137667 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP ClinVar Annotator: match by term: Capillary malformation ClinVar PMID:25741868 PMID:27476652 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAQ G protein subunit alpha q IAGP ClinVar Annotator: match by term: Capillary malformation ClinVar PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO ORPHA:457485 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Capillary malformation HPO
ClinVar
PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 More... MIM:612918 ORPHA:140944 ORPHA:314662 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO MIM:608354 ORPHA:137667 ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
JBrowse link
Chalazion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO MIM:617425 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
JBrowse link
Cigarette-paper scars term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:610 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:130000 ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO MIM:130010 ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO ORPHA:610 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO ORPHA:610 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
Circumferential skin creases on extremities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO MIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
JBrowse link
G TUBB tubulin beta class I IAGP HPO MIM:156610 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
JBrowse link
Comedo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPH lipase H IAGP HPO MIM:604379 NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 IAGP HPO MIM:278150 NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
JBrowse link
G LRP1 LDL receptor related protein 1 IAGP HPO MIM:604093 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO ORPHA:64754 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
JBrowse link
Commissural lip pit term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:214350 ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO MIM:608389 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
JBrowse link
Confetti-like hypopigmented macules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G MEN1 menin 1 IAGP HPO MIM:131100 ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Congenital giant melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:626 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Giant pigmented mole
ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar
HPO
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... MIM:137550 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Giant pigmented mole
ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Congenital giant melanocytic nevus ClinVar
HPO
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... MIM:137550 ORPHA:626 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:626 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:626 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Congenital localized absence of skin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMS1 BMS1 ribosome biogenesis factor IAGP HPO ORPHA:1114 NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO MIM:132000 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:1114 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:1114 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO MIM:226700 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:226700 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO MIM:226700 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
JBrowse link
G PLEC plectin IAGP HPO ORPHA:1114 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO ORPHA:1114 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
JBrowse link
Connective tissue nevi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Connective tissue nevi ClinVar PMID:25741868 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:166700 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
Cutaneous cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
Cutaneous necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
Cutis marmorata telangiectatica congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH1 notch receptor 1 IAGP HPO MIM:616028 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
Dermal atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:158673 ORPHA:89843 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO MIM:278740 ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO MIM:278730 ORPHA:220295 ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:610651 ORPHA:220295 ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO MIM:610965 ORPHA:220295 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:220295 ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 MIM:278800 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G FERMT1 FERM domain containing kindlin 1 IAGP HPO MIM:173650 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G KLHL24 kelch like family member 24 IAGP HPO MIM:617294 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
JBrowse link
G LMNA lamin A/C IAGP HPO MIM:248370 ORPHA:1662 ORPHA:740 ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PLEC plectin IAGP HPO ORPHA:257 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLH DNA polymerase eta IAGP HPO MIM:278750 ORPHA:90342 NCBI chr 6:43,576,185...43,620,523
Ensembl chr 6:43,576,185...43,620,523
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 MIM:268400 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO ORPHA:69735 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
JBrowse link
G TERC telomerase RNA component IAGP HPO MIM:127550 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:127550 ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:127550 ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:103285 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO MIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO MIM:278700 ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO MIM:278720 ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:608612 ORPHA:1662 ORPHA:740 ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Dermoid cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO MIM:168550 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO MIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO MIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Diffuse skin atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT1 FERM domain containing kindlin 1 IAGP HPO MIM:173650 NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
JBrowse link
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
JBrowse link
Digital pitting scar term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 IAGP HPO ORPHA:79145 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Discrete 2 to 5-mm hyper- and hypopigmented macules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 IAGP HPO MIM:131960 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
Epidermal nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO MIM:176920 ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Epidermal nevus ClinVar PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Epidermal nevi
ClinVar Annotator: match by term: Epidermal nevus
ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Epidermal nevi
ClinVar Annotator: match by term: Epidermal nevus
ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Epidermal nevus HPO
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... MIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO MIM:166700 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Epidermal nevi
ClinVar Annotator: match by term: Epidermal nevus
ClinVar PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Epidermal nevi
ClinVar Annotator: match by term: Epidermal nevus
ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Epidermal nevi
ClinVar Annotator: match by term: Epidermal nevus
ClinVar
HPO
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... MIM:182000 ORPHA:140944 ORPHA:314662 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 ORPHA:744 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
Epidermoid cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO MIM:230740 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:1997 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:601553 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO MIM:614114 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
JBrowse link
G CTNND1 catenin delta 1 IAGP HPO ORPHA:1997 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP HPO MIM:167210 ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Eruptive vellus hair cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT16 keratin 16 IAGP HPO ORPHA:2309 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 IAGP HPO ORPHA:2309 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT6A keratin 6A IAGP HPO ORPHA:2309 NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
JBrowse link
G KRT6B keratin 6B IAGP HPO ORPHA:2309 NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
JBrowse link
Eruptive xanthomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOC2 apolipoprotein C2 IAGP HPO MIM:207750 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO MIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
JBrowse link
G LIPC lipase C, hepatic type IAGP HPO MIM:614025 ORPHA:140905 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
JBrowse link
G LPL lipoprotein lipase IAGP HPO MIM:238600 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
Erythematous macule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCD protein kinase C delta IAGP HPO MIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
Erythematous papule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79410 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO MIM:602450 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO ORPHA:86884 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple RGD PMID:12198697 RGD:7364926 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:79455 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79400 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 ORPHA:79400 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO MIM:278700 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
Erythematous plaque term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S3 adaptor related protein complex 1 subunit sigma 3 IAGP HPO ORPHA:247353 NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027
JBrowse link
G CARD14 caspase recruitment domain family member 14 IAGP HPO MIM:173200 NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,216,073
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:158673 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 IAGP HPO ORPHA:86884 NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO ORPHA:247353 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G KRT10 keratin 10 IAGP HPO MIM:607602 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO ORPHA:284426 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:100093 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO MIM:618531 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
Few cafe-au-lait spots term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:613707 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RFX7 regulatory factor X7 IAGP HPO MIM:620330 NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO MIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO MIM:617598 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
JBrowse link
Focal dermal aplasia/hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
Hyperkeratotic papule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79410 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:2698 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:189 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G KRT1 keratin 1 IAGP HPO MIM:146590 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79397 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 ORPHA:79397 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LRP1 LDL receptor related protein 1 IAGP HPO ORPHA:79100 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO MIM:615327 ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Hypermelanotic macule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO MIM:615402 ORPHA:241 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ACTB actin beta IAGP HPO ORPHA:64755 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Hypermelanotic macule ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO MIM:616681 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 IAGP HPO MIM:124200 ORPHA:218 NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP HPO ORPHA:379 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP HPO ORPHA:379 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO ORPHA:379 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP HPO MIM:613398 NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:278800 ORPHA:90321 ORPHA:90322 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90321 ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:53271 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:624 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:2762 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPNMB glycoprotein nmb IAGP HPO MIM:617920 NCBI chr 7:23,246,775...23,275,108
Ensembl chr 7:23,235,967...23,275,108
JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:148000 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INSR insulin receptor IAGP HPO MIM:246200 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G KDM6B lysine demethylase 6B IAGP HPO MIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:154800 ORPHA:79455 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KITLG KIT ligand IAGP HPO MIM:145250 MIM:619947 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79397 ORPHA:79399 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 ORPHA:79397 ORPHA:79399 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO MIM:259600 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:379 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP HPO ORPHA:379 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO ORPHA:379 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PLEC plectin IAGP HPO ORPHA:79401 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SASH1 SAM and SH3 domain containing 1 IAGP HPO MIM:618373 NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
JBrowse link
G SMARCAD1 SNF2 related chromatin remodeling ATPase with DExD box 1 IAGP HPO MIM:129200 NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 IAGP HPO MIM:609056 NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO MIM:175200 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO MIM:617730 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO MIM:278700 ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Hyperpigmented nevi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MC1R melanocortin 1 receptor IAGP HPO ORPHA:79432 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:79432 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
JBrowse link
Hyperpigmented papule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP HPO ORPHA:88630 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:79455 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
Hyperpigmented/hypopigmented macules term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Hyperpigmented/hypopigmented macules ClinVar
HPO
PMID:25741868 PMID:28492532 PMID:30755392 MIM:127400 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G DPP9 dipeptidyl peptidase 9 IAGP HPO MIM:620331 NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G SASH1 SAM and SH3 domain containing 1 IAGP HPO MIM:127500 NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
JBrowse link
G TSC1 TSC complex subunit 1 IAGP DNA:nonsense mutation:exon:p.R509X (c.1525C>T) RGD PMID:25900779 RGD:11073512 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
Hypomelanotic macule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79397 ORPHA:79399 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79397 ORPHA:79399 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO MIM:615327 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G SASH1 SAM and SH3 domain containing 1 IAGP HPO MIM:618373 NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Hypopigmented macule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO MIM:615402 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO MIM:616681 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO ORPHA:137667 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G FANCC FA complementation group C IAGP HPO MIM:227645 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G GPNMB glycoprotein nmb IAGP HPO MIM:617920 NCBI chr 7:23,246,775...23,275,108
Ensembl chr 7:23,235,967...23,275,108
JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79145 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PLEC plectin IAGP HPO ORPHA:79401 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
JBrowse link
G POFUT1 protein O-fucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO ORPHA:79145 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP HPO ORPHA:79145 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:137667 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO MIM:145420 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
Hypopigmented skin patches term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) IAGP HPO ORPHA:241 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
JBrowse link
G AIRE autoimmune regulator IAGP HPO ORPHA:3453 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:626 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G BTK Bruton tyrosine kinase IAGP HPO ORPHA:47 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220402 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220402 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220402 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
JBrowse link
G CD28 CD28 molecule IAGP HPO ORPHA:2584 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
JBrowse link
G CHN1 chimerin 1 IAGP HPO ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G CIB1 calcium and integrin binding 1 IAGP HPO ORPHA:302 NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP HPO