FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:pigmentation disease
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
pigmentation disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G a nonagouti JBrowse link 2 154,950,204 155,051,012 RGD:11554173
G Colec11 collectin sub-family member 11 JBrowse link 12 28,594,172 28,623,458 RGD:11554173
G Krt14 keratin 14 JBrowse link 11 100,203,162 100,207,510 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 16 23,451,785 23,521,074 RGD:11554173
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:11554173
G Mpv17 MpV17 mitochondrial inner membrane protein JBrowse link 5 31,140,663 31,154,251 RGD:11554173
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 5 33,721,724 33,737,068 RGD:11568026
RGD:8554872
RGD:11568054
G Prmt7 protein arginine N-methyltransferase 7 JBrowse link 8 106,211,054 106,251,694 RGD:8554872
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 JBrowse link 6 122,727,809 122,802,274 RGD:1642802
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 14 101,442,360 101,609,226 RGD:7248544
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trp63 transformation related protein 63 JBrowse link 16 25,683,763 25,892,088 RGD:7240710
RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit JBrowse link X 7,607,070 7,635,196 RGD:7240710
RGD:8554872
RGD:13782379
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:8554872
G Nrl neural retina leucine zipper gene JBrowse link 14 55,518,978 55,524,981 RGD:8554872
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:8554872
Autoimmune Disease, Susceptibility To, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxd3 forkhead box D3 JBrowse link 4 99,656,299 99,658,671 RGD:7240710
RGD:8554872
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 10 56,377,300 56,390,419 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 7 130,162,451 130,266,944 RGD:7240710
RGD:8554872
RGD:13592920
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of kappaB kinase gamma JBrowse link X 74,393,291 74,456,792 RGD:7240710
RGD:8554872
RGD:13592920
RGD:12791266
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 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 11 79,338,389 79,581,609 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 17 80,393,752 80,480,453 RGD:8554872
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus JBrowse link 2 174,284,306 174,346,744 RGD:11554173
G Nf1 neurofibromin 1 JBrowse link 11 79,338,389 79,581,609 RGD:8554872
G Pms2 PMS1 homolog2, mismatch repair system component JBrowse link 5 143,909,901 143,985,719 RGD:11554173
G Spred1 sprouty protein with EVH-1 domain 1, related sequence JBrowse link 2 117,121,071 117,182,279 RGD:11554173
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 10 24,637,914 24,712,159 RGD:7240710
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:11554173
RGD:7240710
RGD:8554872
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 5 33,721,724 33,737,068 RGD:7240710
RGD:8554872
RGD:11568032
RGD:11554173
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 JBrowse link 14 32,513,283 32,580,990 RGD:7240710
RGD:8554872
RGD:11554173
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 11 100,203,162 100,207,510 RGD:7240710
RGD:8554872
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 a disintegrin and metallopeptidase domain 10 JBrowse link 9 70,678,918 70,780,229 RGD:11554173
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:7240710
RGD:8554872
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 2 153,241,532 153,271,029 RGD:11554173
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 16 38,525,058 38,550,257 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 2 153,241,532 153,271,029 RGD:7240710
RGD:8554872
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 16 38,525,058 38,550,257 RGD:7240710
RGD:8554872
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 JBrowse link 19 43,782,308 43,838,332 RGD:1598616
RGD:8554872
RGD:11554173
RGD:7240710
RGD:69812
G Abcc3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 JBrowse link 11 94,343,295 94,393,018 RGD:1598620
G Rdx radixin JBrowse link 9 52,047,150 52,088,738 RGD:13592920
G Slco1a1 solute carrier organic anion transporter family, member 1a1 JBrowse link 6 141,907,281 141,946,962 RGD:1598620
G Slco1a4 solute carrier organic anion transporter family, member 1a4 JBrowse link 6 141,805,438 141,856,284 RGD:1598620
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 3 89,715,022 89,753,455 RGD:1559268
RGD:8554872
RGD:13432090
RGD:7240710
G Chrnb2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) JBrowse link 3 89,753,448 89,764,632 RGD:8554872
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 JBrowse link 1 75,171,640 75,180,392 RGD:13592920
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 JBrowse link 1 75,171,640 75,180,392 RGD:7240710
RGD:8554872
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 9 75,071,015 75,223,688 RGD:7240710
RGD:8554872
RGD:13592920
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 1 90,915,023 90,951,142 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 9 75,071,015 75,223,688 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 1 132,417,182 132,466,959 RGD:7240710
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit JBrowse link 13 94,358,580 94,566,316 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 7 19,505,783 19,508,358 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino JBrowse link 5 36,747,374 36,748,679 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted JBrowse link 13 38,602,706 38,635,876 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin JBrowse link 2 122,738,505 122,749,487 RGD:8554872
RGD:11554173
G Ccl5 chemokine (C-C motif) ligand 5 JBrowse link 11 83,525,778 83,530,518 RGD:4891476
G Cp ceruloplasmin JBrowse link 3 19,956,985 20,009,750 RGD:8554872
G Cxcr4 chemokine (C-X-C motif) receptor 4 JBrowse link 1 128,588,199 128,592,311 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:11251756
RGD:11554173
RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 19,995,945 20,035,380 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 5 112,343,039 112,378,424 RGD:1599546
RGD:11554173
RGD:8554872
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 7 46,760,466 46,796,064 RGD:11072072
RGD:11554173
RGD:8554872
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 19 46,003,478 46,006,173 RGD:11073544
RGD:11554173
RGD:8554872
G Kxd1 KxDL motif containing 1 JBrowse link 8 70,513,396 70,523,180 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 7 88,430,273 88,491,572 RGD:2324690
G Rabggta Rab geranylgeranyl transferase, a subunit JBrowse link 14 55,715,877 55,722,368 RGD:13592920
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 JBrowse link 3 50,364,936 50,499,087 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 7 19,508,729 19,516,145 RGD:8554872
G Vps33a VPS33A CORVET/HOPS core subunit JBrowse link 5 123,527,304 123,573,043 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:1625056
RGD:13592920
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 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, beta 1 subunit JBrowse link 13 94,358,580 94,566,316 RGD:7240710
RGD:13592920
RGD:8554872
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 3 19,956,985 20,009,750 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 19,995,945 20,035,380 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11041885
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 5 112,343,039 112,378,424 RGD:7240710
RGD:13592920
RGD:8554872
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 7 46,760,466 46,796,064 RGD:7240710
RGD:13592920
RGD:8554872
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 19 46,003,478 46,006,173 RGD:7240710
RGD:13592920
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:7240710
RGD:13592920
RGD:8554872
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 7 19,505,783 19,508,358 RGD:7240710
RGD:13592920
RGD:8554872
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin JBrowse link 2 122,738,505 122,749,487 RGD:7240710
RGD:8554872
RGD:13592920
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:8554872
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl-hydrocarbon receptor JBrowse link 12 35,497,979 35,534,989 RGD:11554173
G Rpl27a ribosomal protein L27A JBrowse link 7 109,519,195 109,522,369 RGD:11554173
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 JBrowse link 10 60,712,072 60,752,849 RGD:11554173
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitl kit ligand JBrowse link 10 100,015,635 100,100,416 RGD:7240710
RGD:8554872
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of kappaB kinase gamma JBrowse link X 74,393,291 74,456,792 RGD:8554872
Hypopigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog (C. elegans) JBrowse link 18 77,938,408 78,037,325 RGD:11554173
G Gli3 GLI-Kruppel family member GLI3 JBrowse link 13 15,463,723 15,730,026 RGD:11554173
G Mc1r melanocortin 1 receptor JBrowse link 8 123,407,082 123,410,744 RGD:1600618
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:1601587
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 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 8 3,150,922 3,279,649 RGD:7240710
RGD:8554872
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam98b family with sequence similarity 98, member B JBrowse link 2 117,249,714 117,271,540 RGD:8554872
G Rasgrp1 RAS guanyl releasing protein 1 JBrowse link 2 117,279,993 117,342,877 RGD:8554872
G Spred1 sprouty protein with EVH-1 domain 1, related sequence JBrowse link 2 117,121,071 117,182,279 RGD:7240710
RGD:8554872
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548653
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,660 RGD:8554872
RGD:13592920
G Epha2 Eph receptor A2 JBrowse link 4 141,301,221 141,329,384 RGD:11554173
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 7 19,359,719 19,378,540 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 19 32,757,577 32,826,160 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 5 121,130,533 121,191,397 RGD:1601571
RGD:8554872
RGD:13592920
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
RGD:7240710
G Raf1 v-raf-leukemia viral oncogene 1 JBrowse link 6 115,618,573 115,676,635 RGD:8554872
RGD:11554173
G Rpl6 ribosomal protein L6 JBrowse link 5 121,204,501 121,209,241 RGD:8554872
LEOPARD SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,660 RGD:7240710
RGD:8554872
LEOPARD Syndrome, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 v-raf-leukemia viral oncogene 1 JBrowse link 6 115,618,573 115,676,635 RGD:7240710
RGD:8554872
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C, delta 1 JBrowse link 9 119,071,527 119,093,592 RGD:8554872
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2, mitochondrial JBrowse link 5 121,566,027 121,593,824 RGD:11554173
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pdx glucose-6-phosphate dehydrogenase X-linked JBrowse link X 74,409,486 74,429,161 RGD:10449116
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 16 38,248,321 38,294,849 RGD:11554173
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras neuroblastoma ras oncogene JBrowse link 3 103,058,285 103,067,914 RGD:7240710
RGD:8554872
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C, delta 1 JBrowse link 9 119,071,527 119,093,592 RGD:7240710
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:13592920
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8694339
RGD:8554872
RGD:7240710
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 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 152,781,921 152,808,651 RGD:7240710
RGD:8554872
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:7240710
RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 15 10,981,756 10,996,624 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:11354899
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:11554173
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:8554872
RGD:13592920
G Slc45a2 solute carrier family 45, member 2 JBrowse link 15 11,000,721 11,029,233 RGD:8554872
RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:1599686
RGD:8554872
RGD:13592920
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599687
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 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 7 87,424,771 87,493,512 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694340
RGD:8694337
RGD:8694335
RGD:8694334
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc1r melanocortin 1 receptor JBrowse link 8 123,407,082 123,410,744 RGD:7240710
RGD:8554872
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:7240710
RGD:8554872
RGD:9491836
RGD:9491830
RGD:9491821
RGD:9491820
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:7240710
RGD:8554872
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 breast cancer 2, early onset JBrowse link 5 150,522,021 150,570,147 RGD:8554872
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 101,274,091 101,298,934 RGD:8554872
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 15 11,000,721 11,029,233 RGD:1599921
RGD:8554872
RGD:7240710
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin basic protein expression factor 2, repressor JBrowse link 2 125,080,975 125,123,660 RGD:8554872
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 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 14 22,019,502 23,056,088 RGD:7240710
RGD:8554872
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 13 74,692,366 74,808,874 RGD:8554872
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 13 74,639,624 74,692,537 RGD:8554872
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca7 ATP-binding cassette, sub-family A (ABC1), member 7 JBrowse link 10 79,996,455 80,015,572 RGD:8554872
G Arhgap45 Rho GTPase activating protein 45 JBrowse link 10 80,016,672 80,031,471 RGD:8554872
G Arid3a AT rich interactive domain 3A (BRIGHT-like) JBrowse link 10 79,927,043 79,955,018 RGD:8554872
G Cbarp calcium channel, voltage-dependent, beta subunit associated regulatory protein JBrowse link 10 80,130,434 80,140,135 RGD:8554872
G Cfd complement factor D (adipsin) JBrowse link 10 79,890,853 79,892,660 RGD:8554872
G Cnn2 calponin 2 JBrowse link 10 79,988,600 79,995,400 RGD:8554872
G Elane elastase, neutrophil expressed JBrowse link 10 79,886,312 79,888,216 RGD:8554872
G Gpx4 glutathione peroxidase 4 JBrowse link 10 80,047,166 80,056,439 RGD:8554872
G Grin3b glutamate receptor, ionotropic, NMDA3B JBrowse link 10 79,970,397 79,977,190 RGD:8554872
G Kiss1r KISS1 receptor JBrowse link 10 79,916,960 79,924,088 RGD:8554872
G Med16 mediator complex subunit 16 JBrowse link 10 79,894,707 79,908,941 RGD:8554872
G Polr2e polymerase (RNA) II (DNA directed) polypeptide E JBrowse link 10 80,035,953 80,039,659 RGD:8554872
G R3hdm4 R3H domain containing 4 JBrowse link 10 79,910,052 79,917,047 RGD:8554872
G Sbno2 strawberry notch 2 JBrowse link 10 80,056,997 80,106,108 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 10 80,115,692 80,130,685 RGD:1600691
RGD:8554872
RGD:13592920
RGD:11554173
RGD:7240710
G Tmem259 transmembrane protein 259 JBrowse link 10 79,977,120 79,984,330 RGD:8554872
G Wdr18 WD repeat domain 18 JBrowse link 10 79,959,989 79,969,247 RGD:8554872
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH, polypeptide 5 JBrowse link 17 6,079,828 6,085,488 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 intereacting protein JBrowse link 13 17,695,413 17,699,105 RGD:8554872
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI-Kruppel family member GLI3 JBrowse link 13 15,463,723 15,730,026 RGD:12738207
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 5 75,574,987 75,656,722 RGD:1600045
RGD:8554872
RGD:13592920
RGD:12910729
RGD:7240710
G Snai2 snail family zinc finger 2 JBrowse link 16 14,705,859 14,709,385 RGD:1600041
RGD:8554872
RGD:7240710
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 a disintegrin and metallopeptidase domain 10 JBrowse link 9 70,678,918 70,780,229 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:8554872
Reticulate Pigmentary Disorder, with Systemic Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pola1 polymerase (DNA directed), alpha 1 JBrowse link X 93,304,766 93,632,219 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 7 56,050,155 56,231,800 RGD:7240710
RGD:8554872
G Irf4 interferon regulatory factor 4 JBrowse link 13 30,749,208 30,766,982 RGD:8554872
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:7240710
RGD:8554872
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 7 145,181,633 145,284,011 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 4 80,834,208 80,851,736 RGD:7240710
RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin basic protein expression factor 2, repressor JBrowse link 2 125,080,975 125,123,660 RGD:8554872
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 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 15 11,000,721 11,029,233 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 (sodium/potassium/calcium exchanger), member 4 JBrowse link 12 102,128,651 102,267,726 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kitl kit ligand JBrowse link 10 100,015,635 100,100,416 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 13 30,749,208 30,766,982 RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G a nonagouti JBrowse link 2 154,950,204 155,051,012 RGD:8554872
G Ahcy S-adenosylhomocysteine hydrolase JBrowse link 2 155,059,310 155,074,497 RGD:8554872
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin, alpha JBrowse link X 74,223,461 74,249,852 RGD:7240710
RGD:8554872
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:7240710
RGD:8554872
RGD:13592920
urticaria pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 5 75,574,987 75,656,722 RGD:8554872
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bach2 BTB and CNC homology, basic leucine zipper transcription factor 2 JBrowse link 4 32,238,574 32,586,109 RGD:11554173
G C3 complement component 3 JBrowse link 17 57,203,967 57,228,136 RGD:7401277
G C4a complement component 4A (Rodgers blood group) JBrowse link 17 34,809,092 34,823,454 RGD:5688264
G Casp7 caspase 7 JBrowse link 19 56,396,634 56,442,348 RGD:11554173
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:9479149
RGD:9479169
RGD:9479150
G Ccr6 chemokine (C-C motif) receptor 6 JBrowse link 17 8,236,043 8,257,141 RGD:11554173
G Cd44 CD44 antigen JBrowse link 2 102,811,141 102,901,669 RGD:11554173
G Cd80 CD80 antigen JBrowse link 16 38,457,431 38,495,958 RGD:11554173
G Clnk cytokine-dependent hematopoietic cell linker JBrowse link 5 38,705,588 38,876,858 RGD:11554173
G Clu clusterin JBrowse link 14 65,968,483 65,981,548 RGD:8699503
G Comt catechol-O-methyltransferase JBrowse link 16 18,406,882 18,426,716 RGD:8662333
RGD:8662336
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 1 60,909,025 60,915,832 RGD:7411687
RGD:7411699
RGD:7411697
RGD:7411696
G Esr1 estrogen receptor 1 (alpha) JBrowse link 10 4,611,989 5,005,633 RGD:8552976
G Foxp1 forkhead box P1 JBrowse link 6 98,925,342 99,522,820 RGD:11554173
G H2-Aa histocompatibility 2, class II antigen A, alpha JBrowse link 17 34,282,751 34,287,771 RGD:8547566
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:5147644
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:5147644
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548598
G Hspa1a heat shock protein 1A JBrowse link 17 34,969,359 34,972,156 RGD:8662840
G Ifih1 interferon induced with helicase C domain 1 JBrowse link 2 62,595,793 62,646,255 RGD:11554173
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:8157616
G Ikzf4 IKAROS family zinc finger 4 JBrowse link 10 128,630,839 128,669,809 RGD:11554173
G Il13 interleukin 13 JBrowse link 11 53,631,323 53,634,702 RGD:8549591
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:8663475
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,877 RGD:7794736
RGD:11554173
G Il2 interleukin 2 JBrowse link 3 37,120,713 37,125,954 RGD:8663475
G Il4 interleukin 4 JBrowse link 11 53,612,460 53,618,665 RGD:8663475
G Kif1b kinesin family member 1B JBrowse link 4 149,176,319 149,307,733 RGD:8554872
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:8693723
RGD:8693724
G Mc1r melanocortin 1 receptor JBrowse link 8 123,407,082 123,410,744 RGD:11554173
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 JBrowse link 2 75,675,513 75,704,663 RGD:11554173
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 13 101,680,761 101,768,217 RGD:11554173
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) JBrowse link 17 34,182,030 34,187,330 RGD:1578358
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) JBrowse link 3 103,856,802 103,912,252 RGD:6484552
RGD:7829737
G Sh2b3 SH2B adaptor protein 3 JBrowse link 5 121,815,481 121,837,650 RGD:11554173
G Sla src-like adaptor JBrowse link 15 66,780,819 66,831,829 RGD:11554173
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:8547522
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:8663475
G Tlr2 toll-like receptor 2 JBrowse link 3 83,836,272 83,841,824 RGD:7777152
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7777152
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:7794736
RGD:11554173
G Tob2 transducer of ERBB2, 2 JBrowse link 15 81,848,270 81,858,326 RGD:11554173
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8694387
RGD:8694409
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor JBrowse link 15 97,854,427 97,908,296 RGD:8158061
RGD:8158066
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp1a NLR family, pyrin domain containing 1A JBrowse link 11 71,091,197 71,144,973 RGD:7240710
RGD:8554872
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 2 174,760,619 174,784,042 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 14 103,814,615 103,844,476 RGD:6480217
G Sox10 SRY (sex determining region Y)-box 10 JBrowse link 15 79,154,913 79,164,490 RGD:12832744
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link 14 103,814,615 103,844,476 RGD:7240710
RGD:8554872
RGD:13592920
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F JBrowse link 15 79,141,325 79,151,774 RGD:8554872
G Sox10 SRY (sex determining region Y)-box 10 JBrowse link 15 79,154,913 79,164,490 RGD:8554872
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link 2 174,760,619 174,784,042 RGD:7240710
RGD:8554872
RGD:13592920
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F JBrowse link 15 79,141,325 79,151,774 RGD:8554872
G Sox10 SRY (sex determining region Y)-box 10 JBrowse link 15 79,154,913 79,164,490 RGD:7240710
RGD:8554872
RGD:13592920
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 11 79,338,389 79,581,609 RGD:7240710
RGD:8554872
xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage specific DNA binding protein 1 JBrowse link 19 10,605,492 10,629,822 RGD:7246919
G Ddb2 damage specific DNA binding protein 2 JBrowse link 2 91,211,545 91,237,132 RGD:1601050
RGD:8554872
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 JBrowse link 7 19,344,418 19,356,524 RGD:8554872
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:1601068
RGD:8554872
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 JBrowse link 18 32,240,304 32,270,151 RGD:1598912
RGD:8554872
RGD:7246919
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 JBrowse link 16 13,109,689 13,152,009 RGD:1601093
RGD:8554872
RGD:7246919
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 JBrowse link 1 44,146,981 44,181,260 RGD:7246919
RGD:8554872
G Gtpbp2 GTP binding protein 2 JBrowse link 17 46,159,584 46,169,370 RGD:8554872
G Klc3 kinesin light chain 3 JBrowse link 7 19,394,440 19,404,448 RGD:8554872
G Polh polymerase (DNA directed), eta (RAD 30 related) JBrowse link 17 46,171,355 46,202,682 RGD:11554173
RGD:8554872
G Terf2 telomeric repeat binding factor 2 JBrowse link 8 107,069,400 107,096,645 RGD:13592920
G Tmem43 transmembrane protein 43 JBrowse link 6 91,473,751 91,488,458 RGD:8554872
G Trp53 transformation related protein 53 JBrowse link 11 69,580,359 69,591,873 RGD:1331525
G Xpa xeroderma pigmentosum, complementation group A JBrowse link 4 46,174,735 46,196,353 RGD:1331525
RGD:8554872
RGD:11554173
RGD:7246919
RGD:1599876
G Xpc xeroderma pigmentosum, complementation group C JBrowse link 6 91,489,305 91,515,888 RGD:1599878
RGD:8554872
RGD:11554173
RGD:7246919
xeroderma pigmentosum group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xpa xeroderma pigmentosum, complementation group A JBrowse link 4 46,174,735 46,196,353 RGD:8554872
RGD:7240710
G Xpc xeroderma pigmentosum, complementation group C JBrowse link 6 91,489,305 91,515,888 RGD:8554872
xeroderma pigmentosum group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 JBrowse link 18 32,240,304 32,270,151 RGD:7240710
RGD:8554872
RGD:13592920
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 6 91,473,751 91,488,458 RGD:8554872
G Xpc xeroderma pigmentosum, complementation group C JBrowse link 6 91,489,305 91,515,888 RGD:7240710
RGD:8554872
RGD:13592920
xeroderma pigmentosum group D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:7240710
RGD:8554872
RGD:13592920
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb2 damage specific DNA binding protein 2 JBrowse link 2 91,211,545 91,237,132 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
xeroderma pigmentosum group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 JBrowse link 16 13,109,689 13,152,009 RGD:7240710
RGD:8554872
RGD:13592920
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 JBrowse link 1 44,146,981 44,181,260 RGD:7240710
RGD:8554872
RGD:13592920
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polh polymerase (DNA directed), eta (RAD 30 related) JBrowse link 17 46,171,355 46,202,682 RGD:7240710
RGD:8554872
RGD:13592920
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 JBrowse link 7 19,344,418 19,356,524 RGD:13592920
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 JBrowse link 16 13,109,689 13,152,009 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11668
    sensory system disease 4003
      skin disease 2102
        pigmentation disease 189
          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 + 7
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Graying of Hair, Precocious 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 42
          Hypopigmentation + 96
          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 + 4
          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 + 7
          stromal corneal pigmentation 0
          urticaria pigmentosa 1
          xeroderma pigmentosum + 18
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 11668
    disease of anatomical entity 11173
      nervous system disease 8511
        sensory system disease 4003
          skin disease 2102
            pigmentation disease 189
              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 + 7
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Graying of Hair, Precocious 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 42
              Hypopigmentation + 96
              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 + 4
              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 + 7
              stromal corneal pigmentation 0
              urticaria pigmentosa 1
              xeroderma pigmentosum + 18
              yellow nail syndrome + 0
paths to the root