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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:Erythema
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Accession:HP:0010783 term browser browse the term
Definition:Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Synonyms:exact_synonym: Redness of skin or mucous membrane
 xref: SNOMEDCT_US:20255002;   SNOMEDCT_US:238810007;   SNOMEDCT_US:247441003;   SNOMEDCT_US:271811009;   SNOMEDCT_US:444827008;   SNOMEDCT_US:70819003;   SNOMEDCT_US:86735004;   UMLS:C0016382;   UMLS:C0041834



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Erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP HPO ORPHA:294023 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 IAGP HPO ORPHA:816 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO MIM:242100 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP HPO MIM:242100 MIM:606545 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G AP1S1 adaptor related protein complex 1 subunit sigma 1 IAGP HPO MIM:609313 NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596
JBrowse link
G AQP5 aquaporin 5 IAGP HPO ORPHA:2337 NCBI chr12:49,961,872...49,965,682
Ensembl chr12:49,961,872...49,965,682
JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 IAGP HPO MIM:169600 ORPHA:2841 NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
JBrowse link
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 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 CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:31112 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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 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 CSTA cystatin A IAGP HPO ORPHA:263534 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:2584 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CTSB cathepsin B IAGP HPO MIM:148370 ORPHA:50943 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G DBR1 debranching RNA lariats 1 IAGP HPO MIM:620510 NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949
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 DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:618175 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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 DSG4 desmoglein 4 IAGP HPO MIM:607903 NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912
JBrowse link
G DSP desmoplakin IAGP HPO MIM:615821 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DST dystonin IAGP HPO MIM:614653 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
JBrowse link
G EGFR epidermal growth factor receptor IAGP HPO ORPHA:294023 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ELOVL4 ELOVL fatty acid elongase 4 IAGP HPO MIM:614457 NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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 MIM:278760 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 FECH ferrochelatase IAGP ClinVar Annotator: match by term: Erythema ClinVar
HPO
PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... MIM:177000 ORPHA:79278 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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 GJA1 gap junction protein alpha 1 IAGP HPO MIM:617525 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 DNA:missense mutations:exon:multiple HPO
RGD
PMID:12648223 MIM:617524 ORPHA:317, RGD:1598970 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
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 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 HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms, haplotypes:multiple RGD PMID:17559688 RGD:5147792 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms, haplotypes:multiple HPO
RGD
PMID:17559688 ORPHA:703, RGD:5147792 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms, haplotypes:multiple HPO
RGD
PMID:17559688 ORPHA:703, RGD:5147792 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO MIM:259100 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO MIM:614204 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP HPO MIM:614748 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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 KDSR 3-ketodihydrosphingosine reductase IAGP HPO MIM:617526 ORPHA:316 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 KLK11 kallikrein related peptidase 11 IAGP HPO MIM:620507 NCBI chr19:51,022,236...51,027,991
Ensembl chr19:51,022,216...51,028,039
JBrowse link
G KRT1 keratin 1 IAGP HPO MIM:620148 ORPHA:530838 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
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 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 KRT2 keratin 2 IAGP HPO ORPHA:455 NCBI chr12:52,644,558...52,652,211
Ensembl chr12:52,644,558...52,652,211
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 KRT83 keratin 83 IAGP HPO ORPHA:316 NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398
JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LIPN lipase family member N IAGP HPO MIM:613943 NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
JBrowse link
G LOC130062555 ATAC-STARR-seq lymphoblastoid active region 13371 IAGP ClinVar Annotator: match by term: Erythema ClinVar PMID:1729699 PMID:25741868 PMID:28492532 NCBI chr18:57,580,195...57,580,244 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein IAGP HPO ORPHA:316 NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124
JBrowse link
G LRP1 LDL receptor related protein 1 IAGP HPO MIM:604093 ORPHA:79100 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:608068 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647
JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996
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 NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:47045 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL 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 PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:31112 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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 PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO MIM:615816 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PLCG2 phospholipase C gamma 2 IAGP HPO MIM:614468 MIM:614878 NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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 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 PSMB8 proteasome 20S subunit beta 8 IAGP HPO MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RNF168 ring finger protein 168 IAGP HPO ORPHA:420741 NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:90026 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 IAGP HPO ORPHA:90026 NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO ORPHA:90026 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SERPING1 serpin family G member 1 IAGP HPO MIM:106100 NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO ORPHA:37 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO ORPHA:87503 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:147060 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO MIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 IAGP HPO MIM:617571 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:281127 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
JBrowse link
G TGM5 transglutaminase 5 IAGP HPO MIM:609796 ORPHA:263534 NCBI chr15:43,232,590...43,266,928
Ensembl chr15:43,232,590...43,266,928
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 TNFRSF1B TNF receptor superfamily member 1B IAGP HPO ORPHA:2584 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO ORPHA:316 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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
G WNT10A Wnt family member 10A IAGP HPO MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO 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 XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536
JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
JBrowse link
Erythema migrans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 IAGP HPO MIM:609352 ORPHA:158681 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
Facial erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRE2 adhesion G protein-coupled receptor E2 IAGP HPO MIM:125630 NCBI chr19:14,724,171...14,778,560
Ensembl chr19:14,732,392...14,778,560
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:219090 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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 BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G C1QB complement C1q B chain IAGP HPO MIM:620321 NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:1010 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308800 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RHOH ras homolog family member H IAGP HPO MIM:618307 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO MIM:219090 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
Necrolytic migratory erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCGR glucagon receptor IAGP HPO ORPHA:438274 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
JBrowse link
Palmoplantar erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin IAGP HPO MIM:605676 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:104100 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
Perianal erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP HPO MIM:614328 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO MIM:308205 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO MIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
Perioral erythema term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM17 ADAM metallopeptidase domain 17 IAGP HPO MIM:614328 NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP HPO MIM:201100 NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP HPO MIM:248300 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO MIM:619016 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the cardiovascular system 15600
        Abnormality of the vasculature 8407
          Vascular skin abnormality 736
            Erythema 135
              Erythema marginatum 0
              Erythema migrans 1
              Eyelid erythema 0
              Facial erythema 12
              Migratory erythematous plaque 0
              Necrolytic migratory erythema 1
              Palmoplantar erythema 5
              Perianal erythema 3
              Perioral erythema 4
              Shawl sign 0
              V-sign 0
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the integument 7387
        Abnormality of the skin 6698
          Abnormal skin morphology 2676
            Generalized abnormality of skin 1280
              Vascular skin abnormality 736
                Erythema 135
                  Erythema marginatum 0
                  Erythema migrans 1
                  Eyelid erythema 0
                  Facial erythema 12
                  Migratory erythematous plaque 0
                  Necrolytic migratory erythema 1
                  Palmoplantar erythema 5
                  Perianal erythema 3
                  Perioral erythema 4
                  Shawl sign 0
                  V-sign 0
paths to the root