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ONTOLOGY REPORT - ANNOTATIONS


Term:Genetic Skin Diseases
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Accession:DOID:9007168 term browser browse the term
Definition:Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Synonyms:exact_synonym: Genetic Skin Disease
 primary_id: MESH:D012873
 alt_id: RDO:0001013
For additional species annotation, visit the Alliance of Genome Resources.


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Genetic Skin Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt13 keratin 13 JBrowse link 11 100,117,327 100,121,566 RGD:1304472
G Krt4 keratin 4 JBrowse link 15 101,918,535 101,924,735 RGD:1600193
Absence of Fingerprints term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 6 65,042,589 65,116,061 RGD:7240710
RGD:8554872
Actinic Prurigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:7365088
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 16 38,598,343 38,713,035 RGD:8554872
G Dll4 delta like canonical Notch ligand 4 JBrowse link 2 119,325,784 119,335,666 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 9 21,800,180 21,852,716 RGD:11554173
RGD:8554872
G Eogt EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link 6 97,110,016 97,149,703 RGD:8554872
RGD:11554173
G Notch1 notch 1 JBrowse link 2 26,457,902 26,503,822 RGD:8554872
RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 5 53,466,115 53,657,445 RGD:11554173
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 16 38,598,343 38,713,035 RGD:7240710
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 9 21,800,180 21,852,716 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 5 53,466,115 53,657,445 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase JBrowse link 6 97,110,016 97,149,703 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch 1 JBrowse link 2 26,457,902 26,503,822 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 2 119,325,784 119,335,666 RGD:8554872
RGD:7240710
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
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate, delta-, dehydratase JBrowse link 4 62,505,984 62,520,063 RGD:7240710
RGD:8554872
G G6pdx glucose-6-phosphate dehydrogenase X-linked JBrowse link X 74,409,486 74,429,161 RGD:10449130
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
Alopecia Congenita Keratosis Palmoplantaris 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:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema 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
ankyloblepharon-ectodermal defects-cleft lip/palate 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
RGD:13592920
RGD:11568643
RGD:11554173
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link 16 3,907,627 3,941,147 RGD:8554872
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,291 RGD:8554872
G Nlrp5 NLR family, pyrin domain containing 5 JBrowse link 7 23,385,889 23,441,923 RGD:8554872
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin, alpha 2, smooth muscle, aorta JBrowse link 19 34,240,336 34,255,585 RGD:8554872
G Flna filamin, alpha JBrowse link X 74,223,461 74,249,852 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 19 5,482,836 5,488,410 RGD:13592920
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 JBrowse link 2 165,503,897 165,519,917 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 17 84,658,174 84,683,011 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 17 84,626,496 84,655,568 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 17 25,016,082 25,099,499 RGD:8554872
RGD:13592920
G Nek1 NIMA (never in mitosis gene a)-related expressed kinase 1 JBrowse link 8 60,993,193 61,131,349 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 2 66,183,787 66,256,646 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 3 68,892,499 69,004,645 RGD:7240710
RGD:8554872
RGD:13592920
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930550C14Rik RIKEN cDNA 4930550C14 gene JBrowse link 9 53,401,953 53,434,426 RGD:8554872
G Atm ataxia telangiectasia mutated JBrowse link 9 53,437,122 53,536,816 RGD:7240710
RGD:8554872
RGD:13592920
RGD:12879399
RGD:11554173
RGD:10053611
G Hdac4 histone deacetylase 4 JBrowse link 1 91,928,779 92,195,670 RGD:9681455
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:8693328
G Il2 interleukin 2 JBrowse link 3 37,120,713 37,125,954 RGD:8693328
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:11529801
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11a MRE11A homolog A, double strand break repair nuclease JBrowse link 9 14,784,654 14,837,125 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 2 132,249,286 132,253,180 RGD:11554173
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 JBrowse link 11 68,432,125 68,497,849 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'- phosphatase JBrowse link 7 44,856,479 44,862,929 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930550C14Rik RIKEN cDNA 4930550C14 gene JBrowse link 9 53,401,953 53,434,426 RGD:8554872
G Atm ataxia telangiectasia mutated JBrowse link 9 53,437,122 53,536,816 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta-synthase JBrowse link 17 31,612,623 31,637,233 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 50,128,201 50,196,270 RGD:8554872
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 101,274,091 101,298,934 RGD:8554872
G Mre11a MRE11A homolog A, double strand break repair nuclease JBrowse link 9 14,784,654 14,837,125 RGD:7240710
RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 2 38,692,656 38,714,559 RGD:8554872
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 JBrowse link 2 165,503,897 165,519,917 RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 2 132,249,286 132,253,180 RGD:7240710
RGD:8554872
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl9 actin-like 9 JBrowse link 17 33,432,899 33,434,268 RGD:11554173
G Adam17 a disintegrin and metallopeptidase domain 17 JBrowse link 12 21,323,509 21,373,632 RGD:13592920
G Apoe apolipoprotein E JBrowse link 7 19,696,244 19,699,188 RGD:11040546
G Bdnf brain derived neurotrophic factor JBrowse link 2 109,674,700 109,727,043 RGD:8657028
RGD:8657069
RGD:8657067
RGD:8657065
G C3 complement component 3 JBrowse link 17 57,203,967 57,228,136 RGD:7401273
G Card11 caspase recruitment domain family, member 11 JBrowse link 5 140,872,999 141,000,596 RGD:11554173
G Casp8 caspase 8 JBrowse link 1 58,795,228 58,847,503 RGD:13592920
G Ccdc80 coiled-coil domain containing 80 JBrowse link 16 45,093,407 45,127,924 RGD:11554173
G Ccl11 chemokine (C-C motif) ligand 11 JBrowse link 11 82,057,832 82,062,955 RGD:11554173
G Ccl17 chemokine (C-C motif) ligand 17 JBrowse link 8 94,805,250 94,812,038 RGD:11554173
G Ccl20 chemokine (C-C motif) ligand 20 JBrowse link 1 83,116,766 83,119,167 RGD:7483580
RGD:7483583
G Ccl22 chemokine (C-C motif) ligand 22 JBrowse link 8 94,745,684 94,751,388 RGD:11554173
G Ccl24 chemokine (C-C motif) ligand 24 JBrowse link 5 135,569,937 135,573,123 RGD:11554173
G Ccl26 chemokine (C-C motif) ligand 26 JBrowse link 5 135,560,448 135,563,569 RGD:11087554
G Ccl27a chemokine (C-C motif) ligand 27A JBrowse link 4 41,769,467 41,774,200 RGD:1626250
G Ccl28 chemokine (C-C motif) ligand 28 JBrowse link 13 119,610,520 119,654,359 RGD:4892193
G Ccl5 chemokine (C-C motif) ligand 5 JBrowse link 11 83,525,778 83,530,518 RGD:11554173
G Ccr2 chemokine (C-C motif) receptor 2 JBrowse link 9 124,101,918 124,109,140 RGD:8661734
G Ccr3 chemokine (C-C motif) receptor 3 JBrowse link 9 124,017,825 124,031,689 RGD:6893391
RGD:11554173
G Ccr5 chemokine (C-C motif) receptor 5 JBrowse link 9 124,121,543 124,127,183 RGD:6893391
RGD:11554173
G Cd40 CD40 antigen JBrowse link 2 165,055,608 165,071,654 RGD:5132274
G Cldn1 claudin 1 JBrowse link 16 26,356,645 26,371,839 RGD:11344875
G Cldn23 claudin 23 JBrowse link 8 35,824,709 35,826,559 RGD:11344875
G Cma1 chymase 1, mast cell JBrowse link 14 55,941,451 55,944,675 RGD:1625394
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 1 60,909,025 60,915,832 RGD:7411698
RGD:7411700
G Ctse cathepsin E JBrowse link 1 131,638,314 131,675,507 RGD:13592920
G Cx3cl1 chemokine (C-X3-C motif) ligand 1 JBrowse link 8 94,772,180 94,782,427 RGD:9491761
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:9491393
RGD:9491761
G Cxcl10 chemokine (C-X-C motif) ligand 10 JBrowse link 5 92,346,638 92,348,889 RGD:11554173
G Cxcr3 chemokine (C-X-C motif) receptor 3 JBrowse link X 101,731,535 101,734,147 RGD:11554173
G Emsy EMSY, BRCA2-interacting transcriptional repressor JBrowse link 7 98,587,130 98,659,557 RGD:11554173
G F2 coagulation factor II JBrowse link 2 91,613,986 91,636,457 RGD:5147756
G Fcgr3 Fc receptor, IgG, low affinity III JBrowse link 1 171,051,169 171,065,936 RGD:5508430
G Flg filaggrin JBrowse link 3 93,273,546 93,293,689 RGD:11554173
G Glb1 galactosidase, beta 1 JBrowse link 9 114,401,078 114,474,379 RGD:11554173
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:5490539
RGD:5490981
G Gstp1 glutathione S-transferase, pi 1 JBrowse link 19 4,035,411 4,037,912 RGD:5490540
RGD:5490981
G Gstt1 glutathione S-transferase, theta 1 JBrowse link 10 75,783,813 75,798,584 RGD:5490540
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 11 46,739,822 46,779,578 RGD:5128852
G Hnmt histamine N-methyltransferase JBrowse link 2 24,002,911 24,049,758 RGD:5128889
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:8157618
RGD:11554173
G Ifnl2 interferon lambda 2 JBrowse link 7 28,508,784 28,510,532 RGD:11554173
G Il10 interleukin 10 JBrowse link 1 131,019,845 131,024,970 RGD:7364805
RGD:11554173
G Il13 interleukin 13 JBrowse link 11 53,631,323 53,634,702 RGD:5684364
RGD:13592920
RGD:11554173
RGD:8549583
RGD:8549539
RGD:8549531
RGD:8549529
RGD:8549509
G Il13ra1 interleukin 13 receptor, alpha 1 JBrowse link X 36,112,108 36,171,262 RGD:8549525
G Il13ra2 interleukin 13 receptor, alpha 2 JBrowse link X 147,383,478 147,429,192 RGD:8549521
RGD:8549556
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:8698670
RGD:9068436
RGD:9068417
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:8655872
RGD:13592920
RGD:8655914
RGD:8655908
RGD:8655876
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:11554173
G Il2 interleukin 2 JBrowse link 3 37,120,713 37,125,954 RGD:8662961
RGD:8693325
RGD:8549583
RGD:8663473
RGD:8663444
G Il21r interleukin 21 receptor JBrowse link 7 125,603,251 125,633,570 RGD:6892938
G Il31 interleukin 31 JBrowse link 5 123,480,149 123,482,634 RGD:11554173
G Il33 interleukin 33 JBrowse link 19 29,925,114 29,960,715 RGD:11554173
G Il4 interleukin 4 JBrowse link 11 53,612,460 53,618,665 RGD:7829786
RGD:13592920
RGD:11554173
RGD:7829795
G Il4ra interleukin 4 receptor, alpha JBrowse link 7 125,552,282 125,579,474 RGD:11530001
G Il5 interleukin 5 JBrowse link 11 53,720,794 53,725,103 RGD:5687175
RGD:11554173
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:11554173
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 14 33,377,898 33,447,212 RGD:11554173
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:8693720
G Mc1r melanocortin 1 receptor JBrowse link 8 123,407,082 123,410,744 RGD:5687321
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:13204759
G Ms4a2 membrane-spanning 4-domains, subfamily A, member 2 JBrowse link 19 11,615,517 11,623,790 RGD:1599903
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) JBrowse link 8 67,494,875 67,502,644 RGD:8552664
RGD:8552668
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha JBrowse link 12 55,489,409 55,492,647 RGD:13592920
G Nfkbiz nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta JBrowse link 16 55,811,377 55,838,641 RGD:13592920
G Ngf nerve growth factor JBrowse link 3 102,469,919 102,521,013 RGD:8657069
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) JBrowse link 11 95,568,818 95,587,698 RGD:5508452
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 JBrowse link 3 87,778,244 87,795,242 RGD:5144116
RGD:5684771
G Ovol1 ovo like zinc finger 1 JBrowse link 19 5,549,137 5,560,575 RGD:11554173
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 15 85,734,628 85,806,851 RGD:5509940
RGD:11554173
G Relb avian reticuloendotheliosis viral (v-rel) oncogene related B JBrowse link 7 19,606,217 19,629,438 RGD:7777149
RGD:13592920
G S100a8 S100 calcium binding protein A8 (calgranulin A) JBrowse link 3 90,669,071 90,670,034 RGD:11554173
G Sele selectin, endothelial cell JBrowse link 1 164,039,602 164,058,487 RGD:11554173
G Selp selectin, platelet JBrowse link 1 164,115,264 164,150,026 RGD:1599904
G Sharpin SHANK-associated RH domain interacting protein JBrowse link 15 76,347,040 76,351,115 RGD:13592920
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 JBrowse link 1 74,375,014 74,386,057 RGD:11554173
G Stat6 signal transducer and activator of transcription 6 JBrowse link 10 127,642,039 127,660,987 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:7394812
RGD:1331525
G Tlr2 toll-like receptor 2 JBrowse link 3 83,836,272 83,841,824 RGD:8552997
RGD:8553048
RGD:8552999
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7794689
RGD:7794745
G Tmem79 transmembrane protein 79 JBrowse link 3 88,328,653 88,334,433 RGD:13592920
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:7401246
G Tnfaip6 tumor necrosis factor alpha induced protein 6 JBrowse link 2 52,038,113 52,056,681 RGD:7777183
G Traf3ip2 TRAF3 interacting protein 2 JBrowse link 10 39,612,934 39,655,307 RGD:13592920
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 11 73,267,489 73,300,368 RGD:13592920
G Tslp thymic stromal lymphopoietin JBrowse link 18 32,815,383 32,819,799 RGD:11554173
RGD:13592920
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor JBrowse link 15 97,854,427 97,908,296 RGD:8157625
G Vnn1 vanin 1 JBrowse link 10 23,894,688 23,905,344 RGD:11554173
G Zfp365 zinc finger protein 365 JBrowse link 10 67,886,105 67,912,662 RGD:11554173
atopic dermatitis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 3 93,273,546 93,293,689 RGD:7240710
RGD:8554872
RGD:13592920
atopic dermatitis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Socs3 suppressor of cytokine signaling 3 JBrowse link 11 117,966,079 117,970,342 RGD:7240710
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 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:11554173
RGD:7240710
RGD:8554872
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 17 74,426,255 74,459,145 RGD:8554872
RGD:7240710
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 8 117,498,275 117,635,142 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 19 40,550,257 40,588,463 RGD:11554173
G Eln elastin JBrowse link 5 134,702,595 134,747,368 RGD:8554872
RGD:11554173
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:8554872
RGD:11554173
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 5 134,702,595 134,747,368 RGD:8554872
RGD:7240710
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:8554872
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 19 40,550,257 40,588,463 RGD:7240710
RGD:8554872
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt3 actin related protein T3 JBrowse link 3 30,597,073 30,599,870 RGD:8554872
G Terc telomerase RNA component JBrowse link 3 96,414,437 96,414,833 RGD:8554872
RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:8554872
RGD:11554173
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 JBrowse link 14 55,676,208 55,682,624 RGD:8554872
RGD:11554173
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 3 96,414,437 96,414,833 RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:13592920
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 JBrowse link 14 55,676,208 55,682,624 RGD:13592920
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:8554872
RGD:7240710
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 JBrowse link 14 55,676,208 55,682,624 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 2 181,319,711 181,356,616 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acd adrenocortical dysplasia JBrowse link 8 105,698,157 105,701,290 RGD:7240710
RGD:8554872
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:7240710
RGD:8554872
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 RGD:7240710
RGD:8554872
RGD:13592920
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen, type III, alpha 1 JBrowse link 1 45,311,538 45,349,706 RGD:13592920
RGD:7240710
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 17 32,452,697 32,493,320 RGD:8554872
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein JBrowse link X 8,185,329 8,193,512 RGD:2316868
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 11 46,148,155 46,166,359 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 72,918,521 72,958,528 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 17 28,857,965 28,890,308 RGD:8554872
G Tgm1 transglutaminase 1, K polypeptide JBrowse link 14 55,700,009 55,713,921 RGD:8554872
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 9 122,351,539 122,381,524 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
G Tgm1 transglutaminase 1, K polypeptide JBrowse link 14 55,700,009 55,713,921 RGD:1599417
RGD:8554872
RGD:13592920
RGD:7240710
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 17 28,857,965 28,890,308 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 (colon carcinoma) JBrowse link 9 31,088,590 31,131,882 RGD:8554872
RGD:11554173
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link 10 78,711,995 78,718,347 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 4short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 10 127,898,535 127,911,761 RGD:8554872
RGD:7240710
RGD:13592920
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
RGD:7240710
RGD:13592920
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:7240710
RGD:8554872
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:7240710
RGD:8554872
G Gucy2e guanylate cyclase 2e JBrowse link 11 69,218,117 69,237,358 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:7240710
RGD:13592920
RGD:8554872
G Cst6 cystatin E/M JBrowse link 19 5,344,705 5,349,574 RGD:13592920
G Prss8 protease, serine 8 (prostasin) JBrowse link 7 127,925,717 127,930,149 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 17 32,452,697 32,493,320 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 11 46,148,155 46,166,359 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 19 34,067,058 34,085,946 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 7 66,733,105 66,823,692 RGD:7240710
RGD:8554872
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 19 40,550,257 40,588,463 RGD:8554872
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 JBrowse link 5 124,629,052 124,724,455 RGD:8554872
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 JBrowse link 19 5,473,960 5,481,854 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:11554173
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 19 5,482,836 5,488,410 RGD:8554872
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 11 120,635,712 120,643,782 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 5 124,598,749 124,627,738 RGD:8554872
autosomal recessive cutis laxa type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 JBrowse link 19 5,473,960 5,481,854 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 19 5,482,836 5,488,410 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 JBrowse link 19 5,473,960 5,481,854 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 19 5,482,836 5,488,410 RGD:8554872
autosomal recessive cutis laxa type IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 7 27,305,140 27,339,709 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 JBrowse link 5 124,629,052 124,724,455 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 11 120,635,712 120,643,782 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 JBrowse link 6 120,795,244 120,822,685 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive cutis laxa type IID term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase, H+ transporting, lysosomal V1 subunit A JBrowse link 16 44,085,404 44,139,711 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive cutis laxa type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 19 40,550,257 40,588,463 RGD:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 19 40,550,257 40,588,463 RGD:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 11 120,635,712 120,643,782 RGD:7240710
RGD:8554872
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CTS telomere maintenance complex component 1 JBrowse link 11 69,015,908 69,036,473 RGD:8554872
G Nhp2 NHP2 ribonucleoprotein JBrowse link 11 51,619,773 51,623,714 RGD:8554872
RGD:11554173
G Nop10 NOP10 ribonucleoprotein JBrowse link 2 112,261,926 112,262,898 RGD:8554872
RGD:11554173
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) JBrowse link 11 68,985,701 69,008,460 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 2 112,266,042 112,363,163 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:8554872
G Trp53 transformation related protein 53 JBrowse link 11 69,580,359 69,591,873 RGD:8554872
G Wrap53 WD repeat containing, antisense to Trp53 JBrowse link 11 69,561,754 69,580,364 RGD:8554872
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 11 51,619,773 51,623,714 RGD:8554872
RGD:13592920
G Nop10 NOP10 ribonucleoprotein JBrowse link 2 112,261,926 112,262,898 RGD:8554872
RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:8554872
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 11 51,619,773 51,623,714 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wrap53 WD repeat containing, antisense to Trp53 JBrowse link 11 69,561,754 69,580,364 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 2 181,357,690 181,365,404 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 2 181,319,711 181,356,616 RGD:7240710
RGD:8554872
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease (deadenylation nuclease) JBrowse link 16 13,537,964 13,668,199 RGD:8554872
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acd adrenocortical dysplasia JBrowse link 8 105,698,157 105,701,290 RGD:8554872
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 14 57,098,602 57,104,702 RGD:7240710
RGD:8554872
RGD:7364821
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 6 65,042,589 65,116,061 RGD:8554872
RGD:7240710
RGD:11554173
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
Behcet's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A JBrowse link 5 8,567,091 8,748,570 RGD:8657073
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 11 105,967,945 105,989,964 RGD:7829810
RGD:8142349
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 16 23,146,536 23,157,968 RGD:8694430
G Apoa1 apolipoprotein A-I JBrowse link 9 46,228,630 46,230,469 RGD:11554173
G Apob apolipoprotein B JBrowse link 12 7,977,634 8,016,839 RGD:11554173
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:9068907
RGD:11554173
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:8548882
RGD:8549488
G Ccr1 chemokine (C-C motif) receptor 1 JBrowse link 9 123,962,126 123,968,692 RGD:11554173
G Ccr5 chemokine (C-C motif) receptor 5 JBrowse link 9 124,121,543 124,127,183 RGD:4892106
RGD:8551827
RGD:8551814
G Cd40lg CD40 ligand JBrowse link X 57,212,143 57,224,042 RGD:8547820
G Cfb complement factor B JBrowse link 17 34,856,374 34,862,514 RGD:7411737
G Cpb2 carboxypeptidase B2 (plasma) JBrowse link 14 75,242,287 75,283,555 RGD:1598474
G Crp C-reactive protein, pentraxin-related JBrowse link 1 172,698,056 172,699,966 RGD:9491757
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 1 60,909,025 60,915,832 RGD:7411682
G Cxcl15 chemokine (C-X-C motif) ligand 15 JBrowse link 5 90,794,534 90,803,067 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 9 57,687,928 57,703,824 RGD:8552789
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:8661801
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 13 74,639,624 74,692,537 RGD:11554173
G F5 coagulation factor V JBrowse link 1 164,151,835 164,220,277 RGD:7394769
G Fas Fas (TNF receptor superfamily member 6) JBrowse link 19 34,290,659 34,327,775 RGD:8662438
G Fcgr4 Fc receptor, IgG, low affinity IV JBrowse link 1 171,018,926 171,029,761 RGD:5508432
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 JBrowse link 17 34,263,227 34,269,418 RGD:7483565
G H2-DMa histocompatibility 2, class II, locus DMa JBrowse link 17 34,122,719 34,139,101 RGD:1582700
G H2-DMb2 histocompatibility 2, class II, locus Mb2 JBrowse link 17 34,145,416 34,151,095 RGD:1582700
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:7365104
G H2-M2 histocompatibility 2, M region locus 2 JBrowse link 17 37,480,851 37,483,624 RGD:11554173
G H2-M5 histocompatibility 2, M region locus 5 JBrowse link 17 36,986,855 36,989,504 RGD:7364939
G H2-Q4 histocompatibility 2, Q region locus 4 JBrowse link 17 35,379,617 35,384,674 RGD:7364873
RGD:7364939
RGD:7364918
G Hmox1 heme oxygenase 1 JBrowse link 8 75,093,618 75,100,593 RGD:7777175
G Icam1 intercellular adhesion molecule 1 JBrowse link 9 21,015,960 21,028,797 RGD:8158115
RGD:11554173
RGD:8547575
RGD:8158123
G Ifng interferon gamma JBrowse link 10 118,441,046 118,445,894 RGD:8142356
RGD:8142377
G Ikbkg inhibitor of kappaB kinase gamma JBrowse link X 74,393,291 74,456,792 RGD:12791269
G Il10 interleukin 10 JBrowse link 1 131,019,845 131,024,970 RGD:1598628
RGD:11554173
RGD:7364843
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:8698672
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:4889844
RGD:8655927
RGD:8655926
RGD:8655910
RGD:8655897
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:7401213
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:7401213
G Il2 interleukin 2 JBrowse link 3 37,120,713 37,125,954 RGD:5147902
G Il21r interleukin 21 receptor JBrowse link 7 125,603,251 125,633,570 RGD:6892926
G Il23r interleukin 23 receptor JBrowse link 6 67,422,932 67,491,855 RGD:8549550
RGD:8549565
G Il4 interleukin 4 JBrowse link 11 53,612,460 53,618,665 RGD:5147902
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:7829752
G Itga2 integrin alpha 2 JBrowse link 13 114,835,912 114,932,041 RGD:1582300
G Itgal integrin alpha L JBrowse link 7 127,296,230 127,335,137 RGD:11554173
G Itgb2 integrin beta 2 JBrowse link 10 77,530,329 77,565,681 RGD:11554173
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:1582154
RGD:1582155
G Mefv Mediterranean fever JBrowse link 16 3,706,974 3,718,210 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 8 92,827,291 92,853,421 RGD:8657044
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:8547820
RGD:8657044
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) JBrowse link 8 67,494,875 67,502,644 RGD:8552650
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 8 88,647,280 88,688,474 RGD:8158059
RGD:13204711
RGD:8554872
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,819 24,384,474 RGD:7771576
RGD:7775050
RGD:7775048
RGD:7771577
G Pon1 paraoxonase 1 JBrowse link 6 5,168,090 5,193,987 RGD:8547573
G Proz protein Z, vitamin K-dependent plasma glycoprotein JBrowse link 8 13,060,581 13,075,006 RGD:1580692
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 JBrowse link 9 56,078,447 56,128,890 RGD:8554872
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) JBrowse link 3 103,856,802 103,912,252 RGD:6484733
RGD:7829745
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:8547693
RGD:11554173
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 JBrowse link 1 74,375,014 74,386,057 RGD:5684936
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,742 90,226,324 RGD:1580846
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,579 RGD:6483021
RGD:8694309
G Stat4 signal transducer and activator of transcription 4 JBrowse link 1 51,987,106 52,107,189 RGD:8661713
RGD:11554173
RGD:8661718
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:5147902
G Tlr2 toll-like receptor 2 JBrowse link 3 83,836,272 83,841,824 RGD:8552883
RGD:8552915
RGD:8552888
RGD:8552885
G Tlr3 toll-like receptor 3 JBrowse link 8 45,395,665 45,411,949 RGD:8552883
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7777175
RGD:8552915
RGD:8552888
RGD:7777176
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:7394759
RGD:12904048
RGD:12904040
RGD:12904036
RGD:8142356
RGD:7401213
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 RGD:7401213
RGD:8554872
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor JBrowse link 15 97,854,427 97,908,296 RGD:8158077
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:8655578
G Vim vimentin JBrowse link 2 13,574,311 13,582,826 RGD:6480476
G Vwf Von Willebrand factor JBrowse link 6 125,552,935 125,686,679 RGD:1580642
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 14 21,676,212 21,714,576 RGD:8554872
G Kat6b K(lysine) acetyltransferase 6B JBrowse link 14 21,498,812 21,672,478 RGD:9588484
RGD:8554872
RGD:7240710
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
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 2 118,926,497 118,928,585 RGD:8554872
G Prdm5 PR domain containing 5 JBrowse link 6 65,778,753 65,937,622 RGD:13592920
RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 8 122,043,131 122,272,650 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR domain containing 5 JBrowse link 6 65,778,753 65,937,622 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 8 122,043,131 122,272,650 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR domain containing 5 JBrowse link 6 65,778,753 65,937,622 RGD:7240710
RGD:8554872
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
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
G Krt2 keratin 2 JBrowse link 15 101,810,689 101,818,169 RGD:7240710
RGD:13592920
RGD:8554872
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 low density lipoprotein receptor-related protein 1 JBrowse link 10 127,538,157 127,621,148 RGD:8554872
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 5 134,702,595 134,747,368 RGD:9585749
G Lemd3 LEM domain containing 3 JBrowse link 10 120,923,411 120,979,366 RGD:7240710
RGD:8554872
RGD:11553844
RGD:11553843
RGD:11553842
RGD:11553840
cardiofaciocutaneous 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:7240710
RGD:8554872
RGD:13592920
RGD:11352608
RGD:11567236
RGD:11554173
RGD:1600471
G Hras Harvey rat sarcoma virus oncogene JBrowse link 7 141,189,934 141,194,004 RGD:11554173
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,291 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link 9 64,185,770 64,253,605 RGD:8554872
RGD:13592920
RGD:11554173
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link 10 81,105,912 81,124,697 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 5 121,130,533 121,191,397 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 9 64,179,297 64,182,688 RGD:8554872
G Tipin timeless interacting protein JBrowse link 9 64,281,491 64,305,422 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,291 RGD:7240710
RGD:8554872
CARDIOFACIOCUTANEOUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link 9 64,185,770 64,253,605 RGD:8554872
RGD:7240710
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link 10 81,105,912 81,124,697 RGD:7240710
RGD:8554872
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosomal-associated protein 29 JBrowse link 16 17,406,000 17,430,826 RGD:7240710
RGD:8554872
RGD:13592920
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 72,918,521 72,958,528 RGD:7240710
RGD:11554173
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 11 80,183,872 80,199,753 RGD:8554872
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 11 59,541,569 59,566,956 RGD:13592920
RGD:8554872
RGD:7240710
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 9 43,744,576 43,807,461 RGD:7240710
RGD:8554872
RGD:11554173
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 14 57,123,301 57,133,611 RGD:13592920
RGD:8554872
Cold Hypersensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 JBrowse link 1 14,872,648 14,919,014 RGD:10043615
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
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1a desmoglein 1 alpha JBrowse link 18 20,310,873 20,343,353 RGD:7240710
RGD:8554872
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkd1 protein kinase D1 JBrowse link 12 50,341,226 50,649,248 RGD:8554872
RGD:7240710
RGD:11554173
Congenital Ichthyosis with Trichothiodystrophy 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:8554872
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 16 58,670,208 58,680,391 RGD:8554872
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 3 99,885,417 100,143,322 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 12 8,973,992 9,028,848 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 12 86,082,533 86,162,459 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 5 65,199,658 65,260,415 RGD:7240710
RGD:8554872
RGD:11552606
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:9068438
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:8549803
G Mme membrane metallo endopeptidase JBrowse link 3 63,295,224 63,383,713 RGD:11554173
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 17 74,426,255 74,459,145 RGD:11554173
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 11 59,541,569 59,566,956 RGD:8554872
RGD:11554173
G Plcg2 phospholipase C, gamma 2 JBrowse link 8 117,498,275 117,635,142 RGD:11554173
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 aminolevulinic acid synthase 2, erythroid JBrowse link X 150,547,417 150,570,622 RGD:11035240
G Fech ferrochelatase JBrowse link 18 64,456,542 64,489,097 RGD:4145285
RGD:1598932
G Uros uroporphyrinogen III synthase JBrowse link 7 133,686,142 133,710,522 RGD:1599715
RGD:13592920
RGD:8554872
RGD:7240710
cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 JBrowse link 7 45,974,110 46,030,489 RGD:8554872
G Atp7a ATPase, Cu++ transporting, alpha polypeptide JBrowse link X 106,027,224 106,128,160 RGD:734621
G Col5a1 collagen, type V, alpha 1 JBrowse link 2 27,886,395 28,039,510 RGD:8554872
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 JBrowse link 19 5,473,960 5,481,854 RGD:13592920
G Eln elastin JBrowse link 5 134,702,595 134,747,368 RGD:1580330
RGD:11554173
RGD:9585761
RGD:9585740
RGD:9585738
RGD:9585732
G Fbln5 fibulin 5 JBrowse link 12 101,746,565 101,819,130 RGD:1300360
RGD:13592920
RGD:8554872
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 7 27,305,140 27,339,709 RGD:13592920
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 11 120,635,712 120,643,782 RGD:11554173
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 JBrowse link 2 91,061,781 91,070,330 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:7240710
RGD:8554872
G Krt10 keratin 10 JBrowse link 11 99,385,254 99,389,699 RGD:7240710
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 JBrowse link 5 122,453,513 122,502,225 RGD:8554872
Darier Disease, Segmental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 JBrowse link 5 122,453,513 122,502,225 RGD:8554872
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
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:8554872
RGD:7240710
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 11 100,186,781 100,193,246 RGD:1600065
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp5 aquaporin 5 JBrowse link 15 99,591,028 99,594,829 RGD:7240710
RGD:8554872
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 13 38,151,082 38,198,577 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 13 38,151,082 38,198,577 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
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
dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CTS telomere maintenance complex component 1 JBrowse link 11 69,015,908 69,036,473 RGD:8554872
G Dkc1 dyskeratosis congenita 1, dyskerin JBrowse link X 75,095,854 75,109,777 RGD:734888
RGD:8554872
RGD:13592920
RGD:11554173
RGD:11251734
RGD:11251732
RGD:11251731
RGD:10755414
G Gar1 GAR1 ribonucleoprotein JBrowse link 3 129,824,912 129,831,396 RGD:11554173
G Nhp2 NHP2 ribonucleoprotein JBrowse link 11 51,619,773 51,623,714 RGD:8554872
G Parn poly(A)-specific ribonuclease (deadenylation nuclease) JBrowse link 16 13,537,964 13,668,199 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) JBrowse link 11 68,985,701 69,008,460 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 2 181,319,711 181,356,616 RGD:8554872
G Terc telomerase RNA component JBrowse link 3 96,414,437 96,414,833 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:11554173
RGD:8554872
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 JBrowse link 14 55,676,208 55,682,624 RGD:8554872
RGD:13592920
RGD:11554173
G Trp53 transformation related protein 53 JBrowse link 11 69,580,359 69,591,873 RGD:13592920
ectodermal dysplasia 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:8554872
G Bms1 BMS1, ribosome biogenesis factor JBrowse link 6 118,383,381 118,420,020 RGD:8554872
RGD:7240710
G Eda ectodysplasin-A JBrowse link X 99,975,606 100,400,760 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:8554872
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 14 57,123,301 57,133,611 RGD:1599828
RGD:8554872
RGD:7240710
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:11554173
G Krt16 keratin 16 JBrowse link 11 100,246,091 100,248,902 RGD:1600184
G Krt17 keratin 17 JBrowse link 11 100,256,215 100,261,029 RGD:1600184
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 9 43,744,576 43,807,461 RGD:1599795
G Pkp1 plakophilin 1 JBrowse link 1 135,871,394 135,919,207 RGD:1599084
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872
G Trp63 transformation related protein 63 JBrowse link 16 25,683,763 25,892,088 RGD:11568633
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 99,975,606 100,400,760 RGD:7240710
RGD:8554872
RGD:1598881
G Eda2r ectodysplasin A2 receptor JBrowse link X 97,333,837 97,377,218 RGD:8554872
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdf1 keratinocyte differentiation factor 1 JBrowse link 4 133,518,923 133,530,790 RGD:8554872
RGD:7240710
RGD:11554173
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kremen1 kringle containing transmembrane protein 1 JBrowse link 11 5,191,551 5,261,658 RGD:8554872
RGD:7240710
RGD:11554173
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tspear thrombospondin type laminin G domain and EAR repeats JBrowse link 10 77,686,030 77,886,994 RGD:8554872
RGD:7240710
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:7240710
RGD:8554872
RGD:1598883
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 15 102,921,131 102,928,814 RGD:11554173
G Krt74 keratin 74 JBrowse link 15 101,754,259 101,763,504 RGD:8554872
G Krt85 keratin 85 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 7, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt74 keratin 74 JBrowse link 15 101,754,259 101,763,504 RGD:8554872
RGD:7240710
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 15 102,921,131 102,928,814 RGD:7240710
RGD:8554872
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha JBrowse link 12 55,489,409 55,492,647 RGD:7240710
RGD:8554872
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 8 106,510,852 106,556,911 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 13 38,151,082 38,198,577 RGD:8554872
G Pkp1 plakophilin 1 JBrowse link 1 135,871,394 135,919,207 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link 1 171,370,173 171,388,287 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead like transcription factor 2 JBrowse link 15 37,232,821 37,363,569 RGD:8554872
RGD:7240710
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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:1600403
RGD:8554872
RGD:13592920
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:8554872
EEC 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:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 JBrowse link 11 50,602,085 50,807,573 RGD:1598739
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) JBrowse link 13 55,599,896 55,610,443 RGD:1599433
G Col1a1 collagen, type I, alpha 1 JBrowse link 11 94,936,224 94,953,042 RGD:11571617
RGD:13592920
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:1581198
G Col3a1 collagen, type III, alpha 1 JBrowse link 1 45,311,538 45,349,706 RGD:7257554
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:1300381
G Col5a1 collagen, type V, alpha 1 JBrowse link 2 27,886,395 28,039,510 RGD:1581212
RGD:8554872
RGD:1581210
RGD:1581211
G Col5a2 collagen, type V, alpha 2 JBrowse link 1 45,374,331 45,503,282 RGD:734809
G Dcn decorin JBrowse link 10 97,479,500 97,518,163 RGD:13592920
G Lox lysyl oxidase JBrowse link 18 52,516,060 52,529,867 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 4 147,909,753 147,936,776 RGD:13592920
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 JBrowse link 2 91,061,781 91,070,330 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:11073604
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB JBrowse link 17 34,660,401 34,719,815 RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 JBrowse link 4 155,989,466 155,992,678 RGD:11554173
RGD:8554872
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) JBrowse link 13 55,599,896 55,610,443 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen, type III, alpha 1 JBrowse link 1 45,311,538 45,349,706 RGD:8554872
G Col5a2 collagen, type V, alpha 2 JBrowse link 1 45,374,331 45,503,282 RGD:8554872
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 JBrowse link 1 45,908,070 45,926,536 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 1 45,795,153 45,823,638 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 4 147,873,586 147,904,909 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 2 91,118,114 91,136,516 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 4 147,909,753 147,936,776 RGD:7240710
RGD:8554872
RGD:11554173
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,448,910 79,466,306 RGD:8554872
G Tnnt2 troponin T2, cardiac JBrowse link 1 135,836,315 135,852,268 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 5 114,622,152 114,658,435 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1rb complement component 1, r subcomponent B JBrowse link 6 124,570,430 124,581,044 RGD:8554872
RGD:7240710
RGD:11554173
G C1s2 complement component 1, s subcomponent 2 JBrowse link 6 124,624,625 124,641,894 RGD:8554872
Ehlers-Danlos Syndrome, Cardiac Valvular Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 11 5,861,866 5,872,248 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp14 FK506 binding protein 14 JBrowse link 6 54,577,602 54,593,698 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 2 118,926,497 118,928,585 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 10 34,151,386 34,208,277 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1rb complement component 1, r subcomponent B JBrowse link 6 124,570,430 124,581,044 RGD:8554872
G C1s2 complement component 1, s subcomponent 2 JBrowse link 6 124,624,625 124,641,894 RGD:8554872
RGD:7240710
RGD:11554173
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 JBrowse link 4 155,989,466 155,992,678 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 5 90,460,870 90,476,602 RGD:8554872
G Col1a1 collagen, type I, alpha 1 JBrowse link 11 94,936,224 94,953,042 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:8554872
G Col5a1 collagen, type V, alpha 1 JBrowse link 2 27,886,395 28,039,510 RGD:8554872
G Col5a2 collagen, type V, alpha 2 JBrowse link 1 45,374,331 45,503,282 RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 JBrowse link 11 50,602,085 50,807,573 RGD:7240710
RGD:8554872
RGD:1598738
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 3 33,810,757 33,844,325 RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 5 37,289,098 37,337,630 RGD:7240710
RGD:8554872
RGD:13592920
RGD:1302823
G Evc2 EvC ciliary complex subunit 2 JBrowse link 5 37,338,478 37,425,055 RGD:1600212
RGD:8554872
RGD:13592920
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 1 91,494,590 91,529,307 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 12 8,973,992 9,028,848 RGD:11073852
RGD:8554872
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,513,623 25,575,718 RGD:8554872
RGD:7240710
RGD:11554173
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 9 53,301,519 53,381,166 RGD:11554173
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:11554173
epidermolysis bullosa dystrophica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:1600946
RGD:8554872
RGD:7240710
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,214,081 RGD:12743601
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) JBrowse link 9 7,464,141 7,476,869 RGD:7240710
RGD:8549728
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 1 33,908,213 34,308,662 RGD:13592920
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:7240710
RGD:8554872
G Klhl24 kelch-like 24 JBrowse link 16 20,097,458 20,129,226 RGD:8554872
G Krt14 keratin 14 JBrowse link 11 100,203,162 100,207,510 RGD:1600173
RGD:8554872
RGD:13592920
RGD:7240710
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:1600195
RGD:8554872
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:13204851
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:1599911
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 11 100,203,162 100,207,510 RGD:13592920
RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:13592920
RGD:7240710
RGD:8554872
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:7240710
RGD:8554872
RGD:13592920
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:7240710
RGD:8554872
RGD:13592920
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 1 33,908,213 34,308,662 RGD:11554173
G Krt14 keratin 14 JBrowse link 11 100,203,162 100,207,510 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 15 101,707,070 101,712,891 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 1 33,908,213 34,308,662 RGD:7240710
RGD:8554872
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like 24 JBrowse link 16 20,097,458 20,129,226 RGD:11554173
RGD:7240710
RGD:8554872
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 13 38,151,082 38,198,577 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 9 53,301,519 53,381,166 RGD:7240710
RGD:8554872
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 4 127,325,235 127,330,836 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 4 127,340,954 127,354,139 RGD:11554173
G Jup junction plakoglobin JBrowse link 11 100,368,856 100,397,805 RGD:13592920
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:1600166
RGD:13592920
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 11 99,385,254 99,389,699 RGD:1600168
RGD:13592920
RGD:8554872
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:8554872
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 11 100,246,091 100,248,902 RGD:8554872
G Krt9 keratin 9 JBrowse link 11 100,186,781 100,193,246 RGD:7240710
RGD:8554872
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 11 100,186,781 100,193,246 RGD:8554872
erythrokeratodermia variabilis 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:8554872
RGD:11568612
G Gjb3 gap junction protein, beta 3 JBrowse link 4 127,325,235 127,330,836 RGD:1578480
RGD:8554872
RGD:13592920
RGD:11251416
RGD:12437067
RGD:12436734
RGD:11097171
RGD:12436731
RGD:12436729
RGD:12050153
RGD:11554173
RGD:7240710
G Gjb4 gap junction protein, beta 4 JBrowse link 4 127,340,954 127,354,139 RGD:1598971
RGD:8554872
RGD:12437072
RGD:1598970
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb4 gap junction protein, beta 4 JBrowse link 4 127,340,954 127,354,139 RGD:8554872
RGD:7240710
RGD:13592920
erythrokeratodermia variabilis et progressiva 3 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:8554872
RGD:7240710
RGD:13592920
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 1 106,720,410 106,759,742 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt87 keratin 87 JBrowse link 15 101,431,490 101,438,804 RGD:8554872
RGD:7240710
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 4 127,325,235 127,330,836 RGD:12050155
RGD:12436733
Erythrokeratodermia with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 JBrowse link 9 83,778,692 83,806,305 RGD:8554872
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) JBrowse link 6 58,584,491 58,692,451 RGD:13592920
G Alas2 aminolevulinic acid synthase 2, erythroid JBrowse link X 150,547,417 150,570,622 RGD:13592920
G Areg amphiregulin JBrowse link 5 91,139,599 91,148,432 RGD:11554173
G Btc betacellulin, epidermal growth factor family member JBrowse link 5 91,357,261 91,402,994 RGD:11554173
G Ereg epiregulin JBrowse link 5 91,074,617 91,093,649 RGD:11554173
G Fech ferrochelatase JBrowse link 18 64,456,542 64,489,097 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 aminolevulinic acid synthase 2, erythroid JBrowse link X 150,547,417 150,570,622 RGD:7240710
RGD:8554872
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csta1 cystatin A1 JBrowse link 16 36,119,946 36,131,189 RGD:8554872
RGD:7240710
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist basic helix-loop-helix transcription factor 2 JBrowse link 1 91,801,461 91,848,034 RGD:7240710
RGD:8554872
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 JBrowse link 10 19,000,910 19,015,410 RGD:8554872
RGD:7240710
RGD:11554173
familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 7 3,219,495 3,250,159 RGD:8554872
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 11 59,541,569 59,566,956 RGD:8554872
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 11 59,541,569 59,566,956 RGD:7240710
RGD:8554872
RGD:13592920
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 7 3,219,495 3,250,159 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 8 117,498,275 117,635,142 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 17 74,426,255 74,459,145 RGD:8554872
RGD:13592920
RGD:7240710
familial Mediterranean fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 16 23,146,536 23,157,968 RGD:5686880
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 11 86,058,131 86,201,267 RGD:8554872
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:9480233
G Fbn2 fibrillin 2 JBrowse link 18 58,008,623 58,210,564 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:5508806
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:8655877
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:6482659
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:5686880
G Jag1 jagged 1 JBrowse link 2 137,081,451 137,116,520 RGD:8554872
G Mefv Mediterranean fever JBrowse link 16 3,706,974 3,718,210 RGD:5129184
RGD:8554872
RGD:13592920
RGD:11554173
RGD:7349344
RGD:7349343
RGD:7240710
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 8 88,647,280 88,688,474 RGD:13204709
G Pkhd1 polycystic kidney and hepatic disease 1 JBrowse link 1 20,057,779 20,618,082 RGD:8554872
G Pomc pro-opiomelanocortin-alpha JBrowse link 12 3,954,945 3,960,643 RGD:5508806
G Scnn1a sodium channel, nonvoltage-gated 1 alpha JBrowse link 6 125,321,052 125,344,943 RGD:8554872
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:13207415
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
G Thbd thrombomodulin JBrowse link 2 148,404,471 148,408,188 RGD:5685013
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:7794686
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 RGD:8554872
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mefv Mediterranean fever JBrowse link 16 3,706,974 3,718,210 RGD:7240710
RGD:8554872
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Porcn porcupine O-acyltransferase JBrowse link X 8,193,846 8,206,546 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily c, polypeptide 1 JBrowse link 19 37,685,195 37,693,332 RGD:11554173
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp26c1 cytochrome P450, family 26, subfamily c, polypeptide 1 JBrowse link 19 37,685,195 37,693,332 RGD:7240710
RGD:8554872
Generalized Elastolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 JBrowse link 2 91,061,781 91,070,330 RGD:8554872
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gorab golgin, RAB6-interacting JBrowse link 1 163,384,903 163,403,669 RGD:7240710
RGD:8554872
RGD:11554173
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
Hailey-Hailey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2c1 ATPase, Ca++-sequestering JBrowse link 9 105,411,362 105,521,257 RGD:7240710
RGD:8554872
RGD:11554173
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 16 58,670,208 58,680,391 RGD:8554872
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn10 claudin 10 JBrowse link 14 118,787,871 118,874,525 RGD:8554872
RGD:7240710
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate, delta-, dehydratase JBrowse link 4 62,505,984 62,520,063 RGD:4144806
RGD:11554173
G Cpox coproporphyrinogen oxidase JBrowse link 16 58,670,208 58,680,391 RGD:4144824
G Fech ferrochelatase JBrowse link 18 64,456,542 64,489,097 RGD:4144806
G Hmbs hydroxymethylbilane synthase JBrowse link 9 44,336,348 44,344,228 RGD:4144806
G Ppox protoporphyrinogen oxidase JBrowse link 1 171,276,991 171,281,192 RGD:1599176
RGD:1599172
RGD:4145281
RGD:1599174
G Urod uroporphyrinogen decarboxylase JBrowse link 4 116,989,965 116,994,436 RGD:4144806
RGD:8554872
RGD:4145290
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link 4 116,989,965 116,994,436 RGD:8554872
Hereditary Autoinflammatory Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 17 74,426,255 74,459,145 RGD:11554173
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 JBrowse link 10 19,000,910 19,015,410 RGD:11554173
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 16 58,670,208 58,680,391 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt13 keratin 13 JBrowse link 11 100,117,327 100,121,566 RGD:7240710
RGD:8554872
G Krt4 keratin 4 JBrowse link 15 101,918,535 101,924,735 RGD:7240710
RGD:13592920
RGD:8554872
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
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 3 103,800,605 103,809,387 RGD:8554872
G Dkc1 dyskeratosis congenita 1, dyskerin JBrowse link X 75,095,854 75,109,777 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 13 73,626,179 73,652,366 RGD:11554173
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt16 keratin 16 JBrowse link 11 100,246,091 100,248,902 RGD:8554872
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 99,975,606 100,400,760 RGD:8554872
RGD:13592920
G Eda2r ectodysplasin A2 receptor JBrowse link X 97,333,837 97,377,218 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:8554872
RGD:13592920
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:13592920
RGD:8554872
G Ikbkg inhibitor of kappaB kinase gamma JBrowse link X 74,393,291 74,456,792 RGD:13592920
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872
G Traf6 TNF receptor-associated factor 6 JBrowse link 2 101,678,420 101,701,668 RGD:13592920
G Wnt10a wingless-type MMTV integration site family, member 10A JBrowse link 1 74,792,019 74,804,176 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 10 58,600,780 58,675,696 RGD:7240710
RGD:8554872
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain JBrowse link 13 12,471,209 12,520,704 RGD:8554872
G Ranbp2 RAN binding protein 2 JBrowse link 10 58,446,852 58,494,155 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency 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:12791265
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
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 3 93,273,546 93,293,689 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G Lbr lamin B receptor JBrowse link 1 181,815,315 181,842,401 RGD:13592920
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga3 integrin alpha 3 JBrowse link 11 95,044,475 95,076,811 RGD:7240710
RGD:8554872
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome (prosome, macropain) subunit, alpha type 3 JBrowse link 12 70,969,413 70,995,877 RGD:8554872
G Psmb8 proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) JBrowse link 17 34,198,195 34,201,454 RGD:7240710
RGD:8554872
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 2 120,860,272 120,970,728 RGD:7240710
RGD:13592920
RGD:8554872
junctional epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen, type XVII, alpha 1 JBrowse link 19 47,646,341 47,692,042 RGD:1600884
RGD:8554872
G Itga6 integrin alpha 6 JBrowse link 2 71,786,886 71,858,427 RGD:1600016
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:11554173
G Lama3 laminin, alpha 3 JBrowse link 18 12,333,718 12,583,013 RGD:8554872
RGD:13592920
RGD:11554173
G Lamb3 laminin, beta 3 JBrowse link 1 193,294,353 193,343,878 RGD:1600209
RGD:8554872
RGD:11554173
G Lamc2 laminin, gamma 2 JBrowse link 1 153,122,756 153,186,447 RGD:1600210
RGD:8554872
RGD:11554173
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga6 integrin alpha 6 JBrowse link 2 71,786,886 71,858,427 RGD:13592920
G Lama3 laminin, alpha 3 JBrowse link 18 12,333,718 12,583,013 RGD:8554872
RGD:7240710
G Lamb3 laminin, beta 3 JBrowse link 1 193,294,353 193,343,878 RGD:8554872
RGD:13592920
RGD:7240710
G Lamc2 laminin, gamma 2 JBrowse link 1 153,122,756 153,186,447 RGD:8554872
RGD:13592920
RGD:7240710
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen, type XVII, alpha 1 JBrowse link 19 47,646,341 47,692,042 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:7240710
RGD:13592920
RGD:8554872
G Lama3 laminin, alpha 3 JBrowse link 18 12,333,718 12,583,013 RGD:7240710
RGD:8554872
RGD:13592920
G Lamb3 laminin, beta 3 JBrowse link 1 193,294,353 193,343,878 RGD:7240710
RGD:8554872
RGD:13592920
G Lamc2 laminin, gamma 2 JBrowse link 1 153,122,756 153,186,447 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link 11 116,008,357 116,012,719 RGD:8554872
G Itga6 integrin alpha 6 JBrowse link 2 71,786,886 71,858,427 RGD:7240710
RGD:8554872
G Itgb4 integrin beta 4 JBrowse link 11 115,974,725 116,008,412 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
G Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:8554872
RGD:11554173
Keratolytic Winter Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsb cathepsin B JBrowse link 14 63,122,462 63,145,923 RGD:11554173
RGD:7240710
keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa1 annexin A1 JBrowse link 19 20,373,434 20,390,671 RGD:7421562
G Atp2a2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 JBrowse link 5 122,453,513 122,502,225 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
RGD:734619
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 157,547,822 157,598,715 RGD:7240710
RGD:8554872
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomp proteasome maturation protein JBrowse link 5 147,860,628 147,875,778 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1a desmoglein 1 alpha JBrowse link 18 20,310,873 20,343,353 RGD:7240710
RGD:8554872
RGD:1598781
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 13 38,151,082 38,198,577 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Esophageal Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link 11 116,598,165 116,627,019 RGD:7240710
RGD:8554872
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 7 88,278,023 88,315,861 RGD:7240710
RGD:8554872
RGD:11554173
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 low density lipoprotein receptor-related protein 1 JBrowse link 10