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ONTOLOGY REPORT - ANNOTATIONS


Term:pigmentation disease
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Accession:DOID:10123 term browser browse the term
Definition:Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.
Synonyms:exact_synonym: Incontinentia Pigmenti Achromians;   Ito Syndrome;   Pigmentation Disorder;   Pigmentation Disorders;   Schamberg Disease;   Schamberg's Disease;   Schambergs Disease
 primary_id: MESH:D010859;   RDO:0000666
For additional species annotation, visit the Alliance of Genome Resources.


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pigmentation disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASIP agouti signaling protein JBrowse link 20 34,186,493 34,269,344 RGD:11554173
G COLEC11 collectin subfamily member 11 JBrowse link 2 3,594,832 3,644,644 RGD:11554173
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:11554173
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 187,216,085 187,293,529 RGD:11554173
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:11554173
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2 27,309,492 27,323,102 RGD:11554173
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,299 1,808,872 RGD:11568026
RGD:8554872
RGD:11568054
G PRMT7 protein arginine methyltransferase 7 JBrowse link 16 68,310,951 68,360,876 RGD:8554872
G SLC2A3 solute carrier family 2 member 3 JBrowse link 12 7,919,228 7,936,296 RGD:1642802
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,284,664 75,483,144 RGD:7248544
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:8554872
RGD:7240710
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,205,063 49,233,404 RGD:8554872
RGD:13782379
RGD:7240710
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:8554872
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G NRL neural retina leucine zipper JBrowse link 14 24,078,686 24,115,014 RGD:8554872
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
Autoimmune Disease, Susceptibility To, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXD3 forkhead box D3 JBrowse link 1 63,323,059 63,325,126 RGD:8554872
RGD:7240710
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,577 121,449,744 RGD:11554173
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8554872
RGD:7240710
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:1600008
RGD:8554872
RGD:7240710
RGD:12791266
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:9491819
RGD:8554872
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8554872
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 2 38,981,549 39,124,959 RGD:8554872
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 20 58,839,681 58,911,196 RGD:11554173
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8554872
G PMS2 PMS1 homolog 2, mismatch repair system component JBrowse link 7 5,970,925 6,009,106 RGD:11554173
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 15 38,252,087 38,357,249 RGD:11554173
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 131,808,016 131,895,155 RGD:8554872
RGD:7240710
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:8554872
RGD:7240710
RGD:11554173
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,299 1,808,872 RGD:11568032
RGD:8554872
RGD:11554173
RGD:7240710
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,480 49,539,538 RGD:8554872
RGD:11554173
RGD:7240710
G PGBD3 piggyBac transposable element derived 3 JBrowse link 10 49,515,105 49,524,281 RGD:8554872
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:8554872
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 58,595,204 58,749,978 RGD:11554173
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
RGD:7240710
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:11554173
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:8554872
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:8554872
RGD:7240710
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 10 99,782,598 99,853,741 RGD:1598616
RGD:8554872
RGD:11554173
RGD:7240710
RGD:69812
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 17 50,634,843 50,691,704 RGD:1598620
G RDX radixin JBrowse link 11 110,174,880 110,296,712 RGD:13592920
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 1 154,582,057 154,631,560 RGD:1559268
RGD:8554872
RGD:7240710
RGD:13432090
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 1 154,567,781 154,584,708 RGD:8554872
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2 219,209,766 219,219,017 RGD:13592920
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2 219,209,766 219,219,017 RGD:8554872
RGD:7240710
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
RGD:7240710
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:8554872
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2 237,486,410 237,555,318 RGD:8554872
RGD:7240710
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSTYK dual serine/threonine and tyrosine protein kinase JBrowse link 1 205,142,497 205,211,599 RGD:7240710
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:11554173
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,745 45,202,715 RGD:8554872
RGD:11554173
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,716,115 6,717,660 RGD:13592920
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,013,567 8,064,414 RGD:13592920
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 45,587,123 45,609,716 RGD:8554872
RGD:11554173
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 35,871,491 35,880,373 RGD:4891476
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2 136,114,349 136,118,155 RGD:11352293
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:11251756
RGD:11554173
RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:1599538
RGD:8554872
RGD:11554173
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:1599546
RGD:8554872
RGD:11554173
RGD:11354897
RGD:11353873
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:11072072
RGD:8554872
RGD:11554173
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,367 102,068,038 RGD:632833
RGD:11554173
RGD:8554872
RGD:11073544
G KXD1 KxDL motif containing 1 JBrowse link 19 18,557,762 18,569,387 RGD:13592920
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 87,809,490 88,175,504 RGD:2324690
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 24,265,538 24,271,627 RGD:13592920
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 138,164,094 138,242,349 RGD:13592920
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 45,162,928 45,179,266 RGD:8554872
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 122,229,561 122,266,823 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:1625056
RGD:8554872
RGD:7240710
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:8554872
RGD:7240710
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:11041885
RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,367 102,068,038 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,745 45,202,715 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 45,587,123 45,609,716 RGD:7240710
RGD:8554872
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:8554872
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,298,652 17,346,151 RGD:11554173
G RPL27A ribosomal protein L27a JBrowse link 11 8,682,448 8,689,872 RGD:11554173
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 71,319,253 71,363,390 RGD:11554173
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 12 88,492,793 88,580,473 RGD:7240710
RGD:8554872
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:8554872
Hypopigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPG5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 45,800,586 45,967,339 RGD:11554173
G GLI3 GLI family zinc finger 3 JBrowse link 7 41,960,949 42,237,019 RGD:11554173
G MC1R melanocortin 1 receptor JBrowse link 16 89,917,879 89,920,977 RGD:1600618
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:1601587
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8554872
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSR insulin receptor JBrowse link 19 7,112,255 7,294,405 RGD:8554872
RGD:7240710
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C15orf53 chromosome 15 open reading frame 53 JBrowse link 15 38,696,598 38,700,038 RGD:8554872
G FAM98B family with sequence similarity 98 member B JBrowse link 15 38,454,127 38,487,710 RGD:8554872
G RASGRP1 RAS guanyl releasing protein 1 JBrowse link 15 38,488,097 38,564,806 RGD:8554872
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 15 38,252,087 38,357,249 RGD:8554872
RGD:7240710
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548653
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,327 140,924,928 RGD:8554872
RGD:13592920
G EPHA2 EPH receptor A2 JBrowse link 1 16,124,337 16,156,109 RGD:11554173
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 19 45,379,634 45,406,349 RGD:8554872
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:11554173
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,898 112,509,918 RGD:1601571
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11062587
RGD:11062391
RGD:11070277
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,583,601 12,664,201 RGD:8554872
RGD:11554173
G RPL6 ribosomal protein L6 JBrowse link 12 112,405,181 112,418,850 RGD:8554872
LEOPARD SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,327 140,924,928 RGD:8554872
RGD:7240710
LEOPARD Syndrome, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,583,601 12,664,201 RGD:7240710
RGD:8554872
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCD1 phospholipase C delta 1 JBrowse link 3 38,007,496 38,029,663 RGD:8554872
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH2 aldehyde dehydrogenase 2 family member JBrowse link 12 111,766,887 111,809,985 RGD:11554173
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 154,531,390 154,547,586 RGD:10449116
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 3 119,780,484 119,818,485 RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 114,704,464 114,716,894 RGD:8554872
RGD:7240710
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCD1 phospholipase C delta 1 JBrowse link 3 38,007,496 38,029,663 RGD:7240710
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:13592920
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 RGD:13592920
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694339
RGD:7240710
RGD:8554872
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:8554872
RGD:7240710
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:7240710
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:7240710
RGD:8554872
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 33,986,986 34,008,115 RGD:8554872
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) JBrowse link 5 33,986,986 34,124,528 RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:11354899
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:11554173
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
RGD:13592920
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 33,944,616 33,984,675 RGD:8554872
RGD:13592920
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:1599687
RGD:8554872
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599686
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:1599692
RGD:8554872
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694334
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694340
RGD:8694337
RGD:8694335
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8554872
RGD:7240710
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MC1R melanocortin 1 receptor JBrowse link 16 89,917,879 89,920,977 RGD:8554872
RGD:7240710
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:9491820
RGD:8554872
RGD:7240710
RGD:9491836
RGD:9491830
RGD:9491821
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
RGD:7240710
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,315,480 32,399,672 RGD:8554872
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,561 94,431,232 RGD:8554872
G MED12 mediator complex subunit 12 JBrowse link X 71,118,556 71,142,454 RGD:8554872
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 33,944,616 33,984,675 RGD:1599921
RGD:7240710
RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 48,134,632 48,178,517 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 RGD:8554872
RGD:7240710
oculocutaneous albinism type VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRMDA leucine rich melanocyte differentiation associated JBrowse link 10 75,431,646 76,557,375 RGD:8554872
RGD:7240710
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAST calpastatin JBrowse link 5 96,662,037 96,774,683 RGD:8554872
RGD:7240710
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5
5
96,760,273
96,934,091
96,935,983
96,936,084
RGD:8554872
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA7 ATP binding cassette subfamily A member 7 JBrowse link 19 1,040,103 1,065,572 RGD:8554872
G ARHGAP45 Rho GTPase activating protein 45 JBrowse link 19 1,065,923 1,087,831 RGD:8554872
G ARID3A AT-rich interaction domain 3A JBrowse link 19 925,733 975,934 RGD:8554872
G CBARP CACN subunit beta associated regulatory protein JBrowse link 19 1,228,287 1,238,512 RGD:8554872
G CFD complement factor D JBrowse link 19 859,659 863,569 RGD:8554872
G CNN2 calponin 2 JBrowse link 19 1,026,275 1,039,068 RGD:8554872
G DEFA5 defensin alpha 5 JBrowse link 8 7,055,300 7,056,739 RGD:11554173
G ELANE elastase, neutrophil expressed JBrowse link 19 850,997 856,250 RGD:8554872
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,103,926 1,106,789 RGD:8554872
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 19 1,000,419 1,009,748 RGD:8554872
G KISS1R KISS1 receptor JBrowse link 19 916,693 921,015 RGD:8554872
G MED16 mediator complex subunit 16 JBrowse link 19 867,961 893,228 RGD:8554872
G POLR2E RNA polymerase II subunit E JBrowse link 19 1,086,579 1,095,392 RGD:8554872
G R3HDM4 R3H domain containing 4 JBrowse link 19 896,503 913,225 RGD:8554872
G SBNO2 strawberry notch homolog 2 JBrowse link 19 1,107,634 1,174,283 RGD:8554872
G STK11 serine/threonine kinase 11 JBrowse link 19 1,205,799 1,228,435 RGD:1600691
RGD:8554872
RGD:11554173
RGD:7240710
G TMEM259 transmembrane protein 259 JBrowse link 19 1,009,651 1,021,142 RGD:8554872
G WDR18 WD repeat domain 18 JBrowse link 19 984,328 994,570 RGD:8554872
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8554872
RGD:7240710
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,168,316 158,199,344 RGD:7246919
RGD:8554872
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,132,743 40,134,652 RGD:8554872
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 7 41,960,949 42,237,019 RGD:12738207
G KIT KIT proto-oncogene, receptor tyrosine kinase JBrowse link 4 54,657,928 54,740,715 RGD:1600045
RGD:8554872
RGD:7240710
RGD:12910729
G SNAI2 snail family transcriptional repressor 2 JBrowse link 8 48,917,677 48,921,440 RGD:1600041
RGD:7240710
RGD:8554872
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 58,595,204 58,749,978 RGD:8554872
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
Reticulate Pigmentary Disorder, with Systemic Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLA1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 24,693,833 24,996,986 RGD:8554872
RGD:7240710
RGD:11554173
Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 28,111,037 28,322,173 RGD:8554872
RGD:7240710
G IRF4 interferon regulatory factor 4 JBrowse link 6 391,739 411,443 RGD:8554872
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
RGD:7240710
Skin/Hair/Eye Pigmentation, Variation In, 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPCN2 two pore segment channel 2 JBrowse link 11 69,048,876 69,090,604 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
RGD:7240710
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 48,134,632 48,178,517 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 RGD:8554872
RGD:11554173
Skin/Hair/Eye Pigmentation, Variation In, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 33,944,616 33,984,675 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC24A4 solute carrier family 24 member 4 JBrowse link 14 92,322,581 92,501,481 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 12 88,492,793 88,580,473 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IRF4 interferon regulatory factor 4 JBrowse link 6 391,739 411,443 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCY adenosylhomocysteinase JBrowse link 20 34,235,012 34,311,976 RGD:8554872
G ASIP agouti signaling protein JBrowse link 20 34,186,493 34,269,344 RGD:8554872
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A JBrowse link X 154,348,532 154,374,638 RGD:7240710
RGD:8554872
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:8554872
RGD:7240710
urticaria pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIT KIT proto-oncogene, receptor tyrosine kinase JBrowse link 4 54,657,928 54,740,715 RGD:8554872
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BACH2 BTB domain and CNC homolog 2 JBrowse link 6 89,926,528 90,296,908 RGD:11554173
G C3 complement C3 JBrowse link 19 6,677,835 6,720,682 RGD:7401277
G C4A complement C4A (Rodgers blood group) JBrowse link 6 31,982,057 32,002,680 RGD:5688264
G CASP7 caspase 7 JBrowse link 10 113,679,162 113,730,909 RGD:11554173
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:9479149
RGD:9479169
RGD:9479150
G CCR6 C-C motif chemokine receptor 6 JBrowse link 6 167,111,807 167,139,141 RGD:11554173
G CD44 CD44 molecule (Indian blood group) JBrowse link 11 35,138,870 35,232,402 RGD:11554173
G CD80 CD80 molecule JBrowse link 3 119,523,909 119,559,634 RGD:11554173
G CLNK cytokine dependent hematopoietic cell linker JBrowse link 4 10,486,405 10,734,853 RGD:11554173
G CLU clusterin JBrowse link 8 27,596,917 27,615,031 RGD:8699503
G COMT catechol-O-methyltransferase JBrowse link 22 19,941,740 19,969,975 RGD:8662333
RGD:8662336
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2 203,867,788 203,873,960 RGD:7411687
RGD:7411699
RGD:7411697
RGD:7411696
G ESR1 estrogen receptor 1 JBrowse link 6 151,654,148 152,129,604 RGD:8552976
G FOXP1 forkhead box P1 JBrowse link 3 70,954,714 71,583,989 RGD:11554173
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548598
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 JBrowse link 6 32,637,406 32,654,846 RGD:8547566
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 JBrowse link 6 32,659,464 32,666,689 RGD:5147644
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:5147644
G HSPA1A heat shock protein family A (Hsp70) member 1A JBrowse link 6 31,815,514 31,817,942 RGD:8662840
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 2 162,267,079 162,318,708 RGD:11554173
G IFNG interferon gamma JBrowse link 12 68,154,770 68,159,741 RGD:8157616
G IKZF4 IKAROS family zinc finger 4 JBrowse link 12 56,007,647 56,038,435 RGD:11554173
G IL13 interleukin 13 JBrowse link 5 132,656,524 132,661,109 RGD:8549591
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:8663475
G IL1A interleukin 1 alpha JBrowse link 2 112,773,915 112,785,398 RGD:7794736
RGD:11554173
G IL2 interleukin 2 JBrowse link 4 122,449,479 122,456,495 RGD:8663475
G IL4 interleukin 4 JBrowse link 5 132,673,986 132,682,678 RGD:8663475
G KIF1B kinesin family member 1B JBrowse link 1 10,210,706 10,381,603 RGD:8554872
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:8693723
RGD:8693724
G MC1R melanocortin 1 receptor JBrowse link 16 89,917,879 89,920,977 RGD:11554173
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2 177,230,303 177,265,131 RGD:11554173
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 5 68,215,737 68,301,821 RGD:11554173
G PSMB9 proteasome subunit beta 9 JBrowse link 6 32,854,161 32,859,851 RGD:1578358
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 1 113,813,811 113,871,761 RGD:6484552
RGD:7829737
G SH2B3 SH2B adaptor protein 3 JBrowse link 12 111,405,107 111,451,623 RGD:11554173
G SLA Src like adaptor JBrowse link 8 133,036,728 133,103,066 RGD:11554173
G SOD2 superoxide dismutase 2 JBrowse link 6 159,679,064 159,762,529 RGD:8547522
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:8663475
G TLR2 toll like receptor 2 JBrowse link 4 153,684,080 153,710,643 RGD:7777152
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:7777152
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:7794736
RGD:11554173
G TOB2 transducer of ERBB2, 2 JBrowse link 22 41,433,488 41,448,230 RGD:11554173
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694387
RGD:8694409
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,031 RGD:8158061
RGD:8158066
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP1 NLR family pyrin domain containing 1 JBrowse link 17 5,501,399 5,584,512 RGD:7240710
RGD:8554872
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 20 59,300,415 59,325,992 RGD:11554173
G EDNRB endothelin receptor type B JBrowse link 13 77,895,481 77,975,723 RGD:6480217
G SOX10 SRY-box 10 JBrowse link 22 37,972,312 37,984,532 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDNRB endothelin receptor type B JBrowse link 13 77,895,481 77,975,723 RGD:8554872
RGD:7240710
G EDNRB-AS1 EDNRB antisense RNA 1 JBrowse link 13 77,818,937 77,908,442 RGD:8554872
G POLR2F RNA polymerase II subunit F JBrowse link 22 37,953,663 38,041,915 RGD:8554872
G SOX10 SRY-box 10 JBrowse link 22 37,972,312 37,984,532 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 20 59,300,415 59,325,992 RGD:8554872
RGD:7240710
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR2F RNA polymerase II subunit F JBrowse link 22 37,953,663 38,041,915 RGD:8554872
G SOX10 SRY-box 10 JBrowse link 22 37,972,312 37,984,532 RGD:8554872
RGD:7240710
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8554872
RGD:7240710
xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BIVM-ERCC5 BIVM-ERCC5 readthrough JBrowse link 13 102,807,146 102,876,001 RGD:8554872
G DDB1 damage specific DNA binding protein 1 JBrowse link 11 61,299,447 61,333,212 RGD:7246919
G DDB2 damage specific DNA binding protein 2 JBrowse link 11 47,214,942 47,239,218 RGD:1601050
RGD:8554872
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 45,407,333 45,478,866 RGD:8554872
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:1601068
RGD:8554872
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,176 RGD:1598912
RGD:8554872
RGD:7246919
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 13,920,137 13,952,348 RGD:1601093
RGD:8554872
RGD:7246919
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 102,845,841 102,876,001 RGD:7246919
RGD:8554872
G GTPBP2 GTP binding protein 2 JBrowse link 6 43,620,481 43,631,309 RGD:8554872
G KLC3 kinesin light chain 3 JBrowse link 19 45,340,740 45,351,548 RGD:8554872
G POLH DNA polymerase eta JBrowse link 6 43,576,141 43,620,523 RGD:8554872
RGD:11554173
G TERF2 telomeric repeat binding factor 2 JBrowse link 16 69,355,561 69,386,004 RGD:13592920
G TMEM43 transmembrane protein 43 JBrowse link 3 14,124,940 14,143,680 RGD:8554872
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:1331525
G XPA XPA, DNA damage recognition and repair factor JBrowse link 9 97,654,398 97,697,409 RGD:1331525
RGD:8554872
RGD:11554173
RGD:7246919
RGD:1599876
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,145,145 14,178,672 RGD:1599878
RGD:8554872
RGD:11554173
RGD:7246919
xeroderma pigmentosum group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XPA XPA, DNA damage recognition and repair factor JBrowse link 9 97,654,398 97,697,409 RGD:8554872
RGD:7240710
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,145,145 14,178,672 RGD:8554872
xeroderma pigmentosum group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,176 RGD:8554872
RGD:7240710
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM43 transmembrane protein 43 JBrowse link 3 14,124,940 14,143,680 RGD:8554872
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,145,145 14,178,672 RGD:8554872
RGD:7240710
xeroderma pigmentosum group D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8554872
RGD:7240710
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDB2 damage specific DNA binding protein 2 JBrowse link 11 47,214,942 47,239,218 RGD:8554872
RGD:11554173
RGD:7240710
xeroderma pigmentosum group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 13,920,137 13,952,348 RGD:8554872
RGD:7240710
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BIVM-ERCC5 BIVM-ERCC5 readthrough JBrowse link 13 102,807,146 102,876,001 RGD:8554872
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 102,845,841 102,876,001 RGD:8554872
RGD:7240710
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLH DNA polymerase eta JBrowse link 6 43,576,141 43,620,523 RGD:8554872
RGD:7240710
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 45,407,333 45,478,866 RGD:13592920
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 13,920,137 13,952,348 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15323
    sensory system disease 4388
      skin disease 2260
        pigmentation disease 194
          ADULT syndrome 1
          Anonychia with Flexural Pigmentation 0
          Argyria 0
          BADS syndrome 0
          Basaran Yilmaz Syndrome 1
          Bloch-Sulzberger syndrome + 1
          Bullous Dystrophy, Hereditary Macular Type 0
          Cafe-au-Lait Spots + 8
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Graying of Hair, Precocious 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 43
          Hypopigmentation + 98
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
          Oculocerebral Hypopigmentation Syndrome Type Preus 0
          Pigmented Purpuric Eruption 0
          Red Skin Pigment Anomaly of New Guinea 0
          Reticulate Pigmentary Disorder, with Systemic Manifestations 1
          Russell-Silver Syndrome, X-Linked 0
          Skin/Hair/Eye Pigmentation, Variation In, 1 3
          Skin/Hair/Eye Pigmentation, Variation In, 10 1
          Skin/Hair/Eye Pigmentation, Variation In, 11 1
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
          Skin/Hair/Eye Pigmentation, Variation In, 5 1
          Skin/Hair/Eye Pigmentation, Variation In, 6 1
          Skin/Hair/Eye Pigmentation, Variation In, 7 1
          Skin/Hair/Eye Pigmentation, Variation In, 8 1
          Skin/Hair/Eye Pigmentation, Variation In, 9 2
          Symmetric Acroleukopathy 0
          Tang Hsi Ryu Syndrome 0
          Terminal Osseous Dysplasia and Pigmentary Defects 1
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          Waardenburg Syndrome Type 4 + 5
          White Forelock with Malformations 0
          Whyte Murphy Syndrome 0
          acanthosis nigricans + 6
          conjunctival pigmentation 0
          dyschromatosis symmetrica hereditaria 2
          dyschromatosis universalis hereditaria + 1
          hypopigmentation of eyelid 0
          neonatal jaundice + 5
          stromal corneal pigmentation 0
          urticaria pigmentosa 1
          xeroderma pigmentosum + 20
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 15323
    disease of anatomical entity 14207
      nervous system disease 10367
        sensory system disease 4388
          skin disease 2260
            pigmentation disease 194
              ADULT syndrome 1
              Anonychia with Flexural Pigmentation 0
              Argyria 0
              BADS syndrome 0
              Basaran Yilmaz Syndrome 1
              Bloch-Sulzberger syndrome + 1
              Bullous Dystrophy, Hereditary Macular Type 0
              Cafe-au-Lait Spots + 8
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Graying of Hair, Precocious 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 43
              Hypopigmentation + 98
              Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
              Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
              Oculocerebral Hypopigmentation Syndrome Type Preus 0
              Pigmented Purpuric Eruption 0
              Red Skin Pigment Anomaly of New Guinea 0
              Reticulate Pigmentary Disorder, with Systemic Manifestations 1
              Russell-Silver Syndrome, X-Linked 0
              Skin/Hair/Eye Pigmentation, Variation In, 1 3
              Skin/Hair/Eye Pigmentation, Variation In, 10 1
              Skin/Hair/Eye Pigmentation, Variation In, 11 1
              Skin/Hair/Eye Pigmentation, Variation In, 4 2
              Skin/Hair/Eye Pigmentation, Variation In, 5 1
              Skin/Hair/Eye Pigmentation, Variation In, 6 1
              Skin/Hair/Eye Pigmentation, Variation In, 7 1
              Skin/Hair/Eye Pigmentation, Variation In, 8 1
              Skin/Hair/Eye Pigmentation, Variation In, 9 2
              Symmetric Acroleukopathy 0
              Tang Hsi Ryu Syndrome 0
              Terminal Osseous Dysplasia and Pigmentary Defects 1
              Thumb Deformity, Alopecia, Pigmentation Anomaly 0
              Waardenburg Syndrome Type 4 + 5
              White Forelock with Malformations 0
              Whyte Murphy Syndrome 0
              acanthosis nigricans + 6
              conjunctival pigmentation 0
              dyschromatosis symmetrica hereditaria 2
              dyschromatosis universalis hereditaria + 1
              hypopigmentation of eyelid 0
              neonatal jaundice + 5
              stromal corneal pigmentation 0
              urticaria pigmentosa 1
              xeroderma pigmentosum + 20
              yellow nail syndrome + 0
paths to the root