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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 17 41,500,981 41,505,613 RGD:1304472
G KRT4 keratin 4 JBrowse link 12 52,806,543 52,814,116 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 4 94,207,608 94,291,292 RGD:8554872
RGD:7240710
Actinic Prurigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:7365088
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,419,476 RGD:8554872
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,333 40,939,060 RGD:8554872
RGD:11554173
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,293 11,262,501 RGD:11554173
RGD:8554872
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,212 69,013,961 RGD:8554872
RGD:11554173
G LINC01451 long intergenic non-protein coding RNA 1451 JBrowse link 9 136,612,028 136,617,181 RGD:8554872
G MIR4674 microRNA 4674 JBrowse link 9 136,546,173 136,546,259 RGD:8554872
G NALT1 NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 JBrowse link 9 136,547,842 136,549,744 RGD:8554872
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,545,786 RGD:8554872
RGD:11554173
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 26,163,489 26,435,131 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 3 119,294,289 119,419,476 RGD:7240710
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,293 11,262,501 RGD:8554872
RGD:7240710
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 4 26,163,489 26,435,131 RGD:8554872
RGD:7240710
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,212 69,013,961 RGD:8554872
RGD:7240710
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LINC01451 long intergenic non-protein coding RNA 1451 JBrowse link 9 136,612,028 136,617,181 RGD:8554872
G MIR4673 microRNA 4673 JBrowse link 9 136,519,568 136,519,626 RGD:8554872
G MIR4674 microRNA 4674 JBrowse link 9 136,546,173 136,546,259 RGD:8554872
G NALT1 NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 JBrowse link 9 136,547,842 136,549,744 RGD:8554872
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,545,786 RGD:8554872
RGD:7240710
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,333 40,939,060 RGD:8554872
RGD:7240710
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:8554872
RGD:7240710
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 9 113,386,312 113,401,338 RGD:8554872
RGD:7240710
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 154,531,390 154,547,586 RGD:10449130
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,205,063 49,233,404 RGD:8554872
RGD:13782379
RGD:7240710
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:8554872
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G NRL neural retina leucine zipper JBrowse link 14 24,078,686 24,115,014 RGD:8554872
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,577 121,449,744 RGD:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:8554872
RGD:7240710
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:11568643
RGD:8554872
RGD:11554173
RGD:7240710
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 3,500,931 3,539,048 RGD:8554872
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,204,789 25,251,003 RGD:8554872
G NLRP5 NLR family pyrin domain containing 5 JBrowse link 19 55,999,726 56,061,810 RGD:8554872
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 88,935,074 88,991,397 RGD:8554872
G ACTA2-AS1 ACTA2 antisense RNA 1 JBrowse link 10 88,932,684 88,939,974 RGD:8554872
G FLNA filamin A JBrowse link X 154,348,532 154,374,638 RGD:8554872
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 65,860,244 65,867,653 RGD:13592920
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 46,708,358 46,736,347 RGD:8554872
RGD:7240710
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 2 43,806,154 43,838,840 RGD:8554872
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2 43,774,039 43,828,320 RGD:8554872
G IFT140 intraflagellar transport 140 JBrowse link 16 1,510,427 1,612,108 RGD:8554872
RGD:13592920
G NEK1 NIMA related kinase 1 JBrowse link 4 169,393,270 169,612,629 RGD:8554872
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2 165,873,362 165,953,838 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT80 intraflagellar transport 80 JBrowse link 3 160,256,986 160,399,532 RGD:8554872
RGD:7240710
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA2 adenosine deaminase 2 JBrowse link 22 17,178,790 17,221,854 RGD:8554872
G ATM ATM serine/threonine kinase JBrowse link 11 108,222,484 108,369,099 RGD:10053611
RGD:8554872
RGD:11554173
RGD:7240710
RGD:12879399
G C11orf65 chromosome 11 open reading frame 65 JBrowse link 11 108,308,519 108,469,832 RGD:8554872
G HDAC4 histone deacetylase 4 JBrowse link 2 239,048,168 239,401,647 RGD:9681455
G IFNG interferon gamma JBrowse link 12 68,154,770 68,159,741 RGD:8693328
G IL2 interleukin 2 JBrowse link 4 122,449,479 122,456,495 RGD:8693328
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:11529801
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 11 94,415,570 94,512,701 RGD:8554872
RGD:11554173
G PCNA proliferating cell nuclear antigen JBrowse link 20 5,114,953 5,126,622 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 17 8,878,916 8,965,712 RGD:8554872
RGD:7240710
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 49,861,203 49,867,565 RGD:8554872
RGD:7240710
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATM ATM serine/threonine kinase JBrowse link 11 108,222,484 108,369,099 RGD:8554872
G C11orf65 chromosome 11 open reading frame 65 JBrowse link 11 108,308,519 108,469,832 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CBS cystathionine-beta-synthase JBrowse link 21 43,053,190 43,076,861 RGD:8554872
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 119,452,443 119,542,335 RGD:8554872
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
G MED12 mediator complex subunit 12 JBrowse link X 71,118,556 71,142,454 RGD:8554872
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 11 94,415,570 94,512,701 RGD:8554872
RGD:7240710
G NR5A1 nuclear receptor subfamily 5 group A member 1 JBrowse link 9 124,481,236 124,507,420 RGD:8554872
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 46,708,358 46,736,347 RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 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 20 5,114,953 5,126,622 RGD:8554872
RGD:7240710
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL9 actin like 9 JBrowse link 19 8,697,397 8,698,830 RGD:11554173
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 2 9,488,486 9,555,820 RGD:13592920
G APOE apolipoprotein E JBrowse link 19 44,905,749 44,909,395 RGD:11040546
G BDNF brain derived neurotrophic factor JBrowse link 11 27,654,893 27,722,058 RGD:8657028
RGD:8657069
RGD:8657067
RGD:8657065
G C3 complement C3 JBrowse link 19 6,677,835 6,720,682 RGD:7401273
G CARD11 caspase recruitment domain family member 11 JBrowse link 7 2,906,075 3,043,945 RGD:11554173
G CASP8 caspase 8 JBrowse link 2 201,233,443 201,287,711 RGD:13592920
G CCDC80 coiled-coil domain containing 80 JBrowse link 3 112,604,386 112,641,143 RGD:11554173
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 34,285,668 34,288,180 RGD:11554173
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 57,396,076 57,416,063 RGD:11554173
G CCL20 C-C motif chemokine ligand 20 JBrowse link 2 227,813,842 227,817,564 RGD:7483580
RGD:7483583
G CCL22 C-C motif chemokine ligand 22 JBrowse link 16 57,358,783 57,366,190 RGD:11554173
G CCL24 C-C motif chemokine ligand 24 JBrowse link 7 75,810,825 75,823,356 RGD:11554173
G CCL26 C-C motif chemokine ligand 26 JBrowse link 7 75,769,524 75,791,583 RGD:11087554
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 34,661,883 34,662,692 RGD:1626250
G CCL28 C-C motif chemokine ligand 28 JBrowse link 5 43,356,972 43,412,391 RGD:4892193
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 35,871,491 35,880,373 RGD:11554173
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 46,353,744 46,360,940 RGD:8661734
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 46,210,699 46,266,706 RGD:6893391
RGD:11554173
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 3 46,370,142 46,376,206 RGD:6893391
RGD:11554173
G CD40 CD40 molecule JBrowse link 20 46,118,242 46,129,745 RGD:5132274
G CLDN1 claudin 1 JBrowse link 3 190,305,701 190,322,446 RGD:11344875
G CLDN23 claudin 23 JBrowse link 8 8,702,156 8,704,107 RGD:11344875
G CMA1 chymase 1 JBrowse link 14 24,505,355 24,508,265 RGD:1625394
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2 203,867,788 203,873,960 RGD:7411698
RGD:7411700
G CTSE cathepsin E JBrowse link 1 206,009,264 206,023,909 RGD:13592920
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 16 57,372,458 57,385,048 RGD:9491761
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 3 39,263,494 39,281,735 RGD:9491393
RGD:9491761
G CXCL10 C-X-C motif chemokine ligand 10 JBrowse link 4 76,021,116 76,023,536 RGD:11554173
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 71,615,913 71,618,517 RGD:11554173
G EMSY EMSY transcriptional repressor, BRCA2 interacting JBrowse link 11 76,444,928 76,553,031 RGD:11554173
G F2 coagulation factor II, thrombin JBrowse link 11 46,719,166 46,739,508 RGD:5147756
G FCGR2A Fc fragment of IgG receptor IIa JBrowse link 1 161,505,415 161,524,048 RGD:5147985
RGD:5508430
G FLG filaggrin JBrowse link 1 152,302,175 152,325,203 RGD:11554173
G GLB1 galactosidase beta 1 JBrowse link 3 32,996,608 33,097,230 RGD:11554173
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:5490539
RGD:5490981
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 67,583,595 67,586,653 RGD:5490540
RGD:5490981
G GSTT1 glutathione S-transferase theta 1 RGD:5490540
G HAVCR1 hepatitis A virus cellular receptor 1 JBrowse link 5 157,028,383 157,069,633 RGD:5128852
G HNMT histamine N-methyltransferase JBrowse link 2 137,964,068 138,016,364 RGD:5128889
G IFNG interferon gamma JBrowse link 12 68,154,770 68,159,741 RGD:8157618
RGD:11554173
G IFNL3 interferon lambda 3 JBrowse link 19 39,243,606 39,245,077 RGD:11554173
G IL10 interleukin 10 JBrowse link 1 206,767,603 206,772,494 RGD:7364805
RGD:11554173
G IL13 interleukin 13 JBrowse link 5 132,656,524 132,661,109 RGD:5684364
RGD:11554173
RGD:8549583
RGD:8549539
RGD:8549531
RGD:8549529
RGD:8549509
G IL13RA1 interleukin 13 receptor subunit alpha 1 JBrowse link X 118,726,954 118,794,533 RGD:8549525
G IL13RA2 interleukin 13 receptor subunit alpha 2 JBrowse link X 115,003,975 115,017,644 RGD:8549521
RGD:8549556
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:8698670
RGD:9068436
RGD:9068417
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:8655872
RGD:13592920
RGD:8655914
RGD:8655908
RGD:8655876
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:11554173
G IL2 interleukin 2 JBrowse link 4 122,449,479 122,456,495 RGD:8662961
RGD:8693325
RGD:8549583
RGD:8663473
RGD:8663444
G IL21R interleukin 21 receptor JBrowse link 16 27,402,162 27,452,043 RGD:6892938
G IL31 interleukin 31 JBrowse link 12 122,172,030 122,174,199 RGD:11554173
G IL33 interleukin 33 JBrowse link 9 6,214,591 6,257,983 RGD:11554173
G IL4 interleukin 4 JBrowse link 5 132,673,986 132,682,678 RGD:7829786
RGD:11554173
RGD:7829795
G IL4R interleukin 4 receptor JBrowse link 16 27,313,668 27,364,778 RGD:11530001
G IL5 interleukin 5 JBrowse link 5 132,539,194 132,556,864 RGD:5687175
RGD:11554173
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:11554173
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 10 48,306,639 48,439,360 RGD:11554173
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:8693720
G MC1R melanocortin 1 receptor JBrowse link 16 89,917,879 89,920,977 RGD:5687321
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:13204759
G MS4A2 membrane spanning 4-domains A2 JBrowse link 11 60,088,261 60,098,467 RGD:1599903
G NAT2 N-acetyltransferase 2 JBrowse link 8 18,386,585 18,401,219 RGD:8552664
RGD:8552668
G NFKBIA NFKB inhibitor alpha JBrowse link 14 35,401,510 35,404,754 RGD:13592920
G NFKBIZ NFKB inhibitor zeta JBrowse link 3 101,827,990 101,861,025 RGD:13592920
G NGF nerve growth factor JBrowse link 1 115,285,915 115,338,253 RGD:8657069
G NGFR nerve growth factor receptor JBrowse link 17 49,495,293 49,515,020 RGD:5508452
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 1 156,815,750 156,881,850 RGD:5144116
RGD:5684771
G OVOL1 ovo like transcriptional repressor 1 JBrowse link 11 65,787,034 65,797,219 RGD:11554173
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 46,150,534 46,243,756 RGD:5509940
RGD:11554173
G RELB RELB proto-oncogene, NF-kB subunit JBrowse link 19 45,001,449 45,038,198 RGD:7777149
RGD:13592920
G S100A8 S100 calcium binding protein A8 JBrowse link 1 153,390,032 153,422,583 RGD:11554173
G SELE selectin E JBrowse link 1 169,722,640 169,734,079 RGD:11554173
G SELP selectin P JBrowse link 1 169,588,849 169,630,139 RGD:1599904
G SHARPIN SHANK associated RH domain interactor JBrowse link 8 144,098,633 144,104,248 RGD:13592920
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2 218,381,766 218,396,894 RGD:11554173
G STAT6 signal transducer and activator of transcription 6 JBrowse link 12 57,095,404 57,111,413 RGD:11554173
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:1331525
RGD:7394812
G TLR2 toll like receptor 2 JBrowse link 4 153,684,080 153,710,643 RGD:8552997
RGD:8553048
RGD:8552999
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:7794689
RGD:7794745
G TMEM79 transmembrane protein 79 JBrowse link 1 156,282,913 156,292,443 RGD:13592920
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:7401246
G TNFAIP6 TNF alpha induced protein 6 JBrowse link 2 151,357,592 151,380,048 RGD:7777183
G TRAF3IP2 TRAF3 interacting protein 2 JBrowse link 6 111,555,378 111,606,300 RGD:13592920
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 17 3,510,502 3,557,995 RGD:13592920
G TSLP thymic stromal lymphopoietin JBrowse link 5 111,070,080 111,078,024 RGD:11554173
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,031 RGD:8157625
G VNN1 vanin 1 JBrowse link 6 132,680,858 132,714,055 RGD:11554173
G VNN2 vanin 2 JBrowse link 6 132,743,503 132,763,489 RGD:11554173
G ZNF365 zinc finger protein 365 JBrowse link 10 62,374,157 62,672,011 RGD:11554173
atopic dermatitis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 152,302,175 152,325,203 RGD:7240710
RGD:8554872
atopic dermatitis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOCS3 suppressor of cytokine signaling 3 JBrowse link 17 78,356,777 78,360,079 RGD:7240710
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP1 NLR family pyrin domain containing 1 JBrowse link 17 5,501,399 5,584,512 RGD: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 2 32,224,449 32,265,743 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 16 81,779,258 81,962,693 RGD:8554872
RGD:7240710
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,929 95,656,901 RGD:11554173
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8554872
RGD:11554173
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:8554872
RGD:11554173
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8554872
RGD:7240710
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:8554872
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:8554872
RGD:7240710
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 10 95,605,929 95,656,901 RGD:8554872
RGD:7240710
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTRT3 actin related protein T3 JBrowse link 3 169,766,921 169,769,895 RGD:8554872
G TERC telomerase RNA component JBrowse link 3 169,764,610 169,765,060 RGD:8554872
RGD:11554173
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
RGD:11554173
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 24,239,641 24,242,674 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 3 169,764,610 169,765,060 RGD:7240710
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:13592920
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 24,239,641 24,242,674 RGD:13592920
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
RGD:7240710
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 24,239,641 24,242,674 RGD:8554872
RGD:7240710
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 20 63,657,810 63,696,253 RGD:7240710
RGD:8554872
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) JBrowse link 20 63,657,810 63,698,698 RGD:8554872
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACD ACD shelterin complex subunit and telomerase recruitment factor JBrowse link 16 67,657,512 67,660,832 RGD:8554872
RGD:7240710
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
RGD:7240710
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,757 6,342,117 RGD:8554872
RGD:7240710
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 2 188,974,373 189,012,746 RGD:7240710
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:8554872
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 8,072,636 8,087,703 RGD:8554872
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:8554872
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 19 15,508,487 15,552,317 RGD:8554872
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,521,776 48,528,716 RGD:2316868
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:1601069
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 157,460,019 157,474,722 RGD:8554872
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,830,967 152,869,363 RGD:2316868
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 36,242,523 36,313,955 RGD:8554872
G TGM1 transglutaminase 1 JBrowse link 14 24,249,114 24,263,210 RGD:8554872
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:1598548
RGD:11554173
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 43,690,870 43,734,371 RGD:1598668
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 8,072,636 8,087,703 RGD:11554173
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:1599073
RGD:8554872
RGD:11554173
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 48,552,172 48,599,427 RGD:8554872
G TGM1 transglutaminase 1 JBrowse link 14 24,249,114 24,263,210 RGD:1599417
RGD:8554872
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 6 36,242,523 36,313,955 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 11 130,159,787 130,210,362 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 19 15,049,480 15,058,293 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 JBrowse link 12 56,923,154 56,934,405 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 2B member 1 JBrowse link 19 48,552,172 48,599,427 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 17 8,072,636 8,087,703 RGD:8554872
RGD:7240710
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 48,552,172 48,599,427 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:8554872
RGD:7240710
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,670 8,020,340 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:8554872
RGD:7240710
G CST6 cystatin E/M JBrowse link 11 66,011,991 66,013,505 RGD:13592920
G PRSS8 serine protease 8 JBrowse link 16 31,131,433 31,135,762 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 19 15,508,487 15,552,317 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 157,460,019 157,474,722 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPN lipase family member N JBrowse link 10 88,757,226 88,783,662 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS3 ceramide synthase 3 JBrowse link 15 100,400,395 100,544,982 RGD:8554872
RGD:7240710
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,929 95,656,901 RGD:8554872
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 123,712,318 123,761,755 RGD:8554872
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 65,866,441 65,872,934 RGD:8554872
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:11554173
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 65,860,244 65,867,653 RGD:8554872
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 81,932,384 81,937,328 RGD:8554872
G TCTN2 tectonic family member 2 JBrowse link 12 123,671,108 123,708,405 RGD:8554872
autosomal recessive cutis laxa type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 65,866,441 65,872,934 RGD:8554872
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:8554872
RGD:7240710
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 65,860,244 65,867,653 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 65,866,441 65,872,934 RGD:8554872
RGD:7240710
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 65,860,244 65,867,653 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 19 40,592,888 40,629,820 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 123,712,318 123,761,755 RGD:8554872
RGD:7240710
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 17 81,932,384 81,937,328 RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 JBrowse link 22 17,592,136 17,628,822 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 V1 subunit A JBrowse link 3 113,747,019 113,812,058 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 10 95,605,929 95,656,901 RGD:13434922
RGD:8554872
RGD:13434923
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 10 95,605,929 95,656,901 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 17 81,932,384 81,937,328 RGD:8554872
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,821 8,248,095 RGD:8554872
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 178,149,463 178,153,960 RGD:8554872
RGD:11554173
G NOP10 NOP10 ribonucleoprotein JBrowse link 15 34,341,716 34,343,161 RGD:8554872
RGD:11554173
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 17 8,247,596 8,270,491 RGD:8554872
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 34,229,996 34,338,064 RGD:8554872
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:8554872
G TRI-AAT4-1 tRNA-Ile (AAT) 4-1 JBrowse link 17 8,226,991 8,227,064 RGD:8554872
G TRS-AGA2-6 transfer RNA-Ser (AGA) 2-6 JBrowse link 17 8,226,610 8,226,691 RGD:8554872
G TRT-AGT1-2 transfer RNA-Thr (AGT) 1-2 JBrowse link 17 8,226,235 8,226,308 RGD:8554872
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 17 7,686,071 7,703,502 RGD:8554872
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 178,149,463 178,153,960 RGD:8554872
RGD:13592920
G NOP10 NOP10 ribonucleoprotein JBrowse link 15 34,341,716 34,343,161 RGD:8554872
RGD:7240710
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 178,149,463 178,153,960 RGD:8554872
RGD:7240710
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 17 7,686,071 7,703,502 RGD:8554872
RGD:7240710
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
RGD:7240710
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 20 63,698,642 63,708,013 RGD:8554872
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 20 63,657,810 63,696,253 RGD:8554872
RGD:7240710
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) JBrowse link 20 63,657,810 63,698,698 RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
G TNFRSF6B TNF receptor superfamily member 6b JBrowse link 20 63,696,651 63,698,698 RGD:8554872
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PARN poly(A)-specific ribonuclease JBrowse link 16 14,435,700 14,630,286 RGD:8554872
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACD ACD shelterin complex subunit and telomerase recruitment factor JBrowse link 16 67,657,512 67,660,832 RGD:8554872
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 20,187,463 20,192,975 RGD:7364821
RGD:8554872
RGD:7240710
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 4 94,207,608 94,291,292 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 6 121,435,577 121,449,744 RGD:11554173
Behcet's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP binding cassette subfamily B member 1 JBrowse link 7 87,503,863 87,713,323 RGD:8657073
G ACE angiotensin I converting enzyme JBrowse link 17 63,477,061 63,498,380 RGD:7829810
RGD:8142349
G ADA2 adenosine deaminase 2 JBrowse link 22 17,178,790 17,221,854 RGD:8554872
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 186,842,674 186,858,463 RGD:8694430
G APOA1 apolipoprotein A1 JBrowse link 11 116,835,751 116,837,950 RGD:11554173
G APOB apolipoprotein B JBrowse link 2 21,001,429 21,044,073 RGD:11554173
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:9068907
RGD:11554173
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,277 34,257,203 RGD:8548882
RGD:8549488
G CCR1 C-C motif chemokine receptor 1 JBrowse link 3 46,201,709 46,208,341 RGD:11554173
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 3 46,370,142 46,376,206 RGD:4892106
RGD:8551827
RGD:8551814
G CD40LG CD40 ligand JBrowse link X 136,648,177 136,660,390 RGD:8547820
G CFB complement factor B JBrowse link 6 31,945,944 31,952,084 RGD:7411737
G CPB2 carboxypeptidase B2 JBrowse link 13 46,053,066 46,105,076 RGD:1598474
G CRP C-reactive protein JBrowse link 1 159,712,289 159,714,589 RGD:9491757
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2 203,867,788 203,873,960 RGD:7411682
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 73,740,506 73,743,716 RGD:11554173
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 15 74,719,542 74,725,610 RGD:8552789
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:8661801
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5
5
96,760,273
96,934,091
96,935,983
96,936,084
RGD:11554173
G F5 coagulation factor V JBrowse link 1 169,511,954 169,586,630 RGD:7394769
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:8662438
G FCGR3A Fc fragment of IgG receptor IIIa JBrowse link 1 161,541,759 161,550,737 RGD:5508432
G HLA-B major histocompatibility complex, class I, B JBrowse link 6 31,353,866 31,357,245 RGD:7364873
RGD:11554173
RGD:7364939
RGD:7364918
G HLA-DMA major histocompatibility complex, class II, DM alpha JBrowse link 6 32,948,614 32,953,122 RGD:1582700
G HLA-DMB major histocompatibility complex, class II, DM beta JBrowse link 6 32,934,629 32,941,070 RGD:1582700
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 JBrowse link 6 32,659,464 32,666,689 RGD:7483565
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:7365104
G HMOX1 heme oxygenase 1 JBrowse link 22 35,381,067 35,394,214 RGD:7777175
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,270,841 10,286,615 RGD:8158115
RGD:11554173
RGD:8547575
RGD:8158123
G IFNG interferon gamma JBrowse link 12 68,154,770 68,159,741 RGD:8142356
RGD:8142377
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:12791269
G IL10 interleukin 10 JBrowse link 1 206,767,603 206,772,494 RGD:1598628
RGD:11554173
RGD:7364843
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:8698672
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:4889844
RGD:8655927
RGD:8655926
RGD:8655910
RGD:8655897
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:7401213
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:7401213
G IL2 interleukin 2 JBrowse link 4 122,449,479 122,456,495 RGD:5147902
G IL21R interleukin 21 receptor JBrowse link 16 27,402,162 27,452,043 RGD:6892926
G IL23R interleukin 23 receptor JBrowse link 1 67,138,639 67,259,979 RGD:8549550
RGD:8549565
G IL4 interleukin 4 JBrowse link 5 132,673,986 132,682,678 RGD:5147902
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:7829752
G ITGA2 integrin subunit alpha 2 JBrowse link 5 52,989,326 53,094,779 RGD:1582300
G ITGAL integrin subunit alpha L JBrowse link 16 30,472,662 30,523,185 RGD:11554173
G ITGB2 integrin subunit beta 2 JBrowse link 21 44,885,949 44,928,873 RGD:11554173
G KLRC4 killer cell lectin like receptor C4 JBrowse link 12 10,407,384 10,409,757 RGD:11554173
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:1582154
RGD:1582155
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,242,028 3,256,776 RGD:8554872
G MMP2 matrix metallopeptidase 2 JBrowse link 16 55,478,830 55,506,691 RGD:8657044
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:8547820
RGD:8657044
G NAT2 N-acetyltransferase 2 JBrowse link 8 18,386,585 18,401,219 RGD:8552650
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 50,693,587 50,733,077 RGD:8158059
RGD:8554872
RGD:13204711
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:7771576
RGD:7775050
RGD:7775048
RGD:7771577
G PON1 paraoxonase 1 JBrowse link 7 95,297,676 95,324,706 RGD:8547573
G PROZ protein Z, vitamin K dependent plasma glycoprotein JBrowse link 13 113,155,864 113,172,386 RGD:1580692
G PSORS1C1 psoriasis susceptibility 1 candidate 1 JBrowse link 6 31,114,831 31,140,092 RGD:11554173
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 JBrowse link 15 76,994,680 77,037,475 RGD:8554872
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 1 113,813,811 113,871,761 RGD:6484733
RGD:7829745
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:8547693
RGD:11554173
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2 218,381,766 218,396,894 RGD:5684936
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:1580846
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 42,313,324 42,388,503 RGD:6483021
RGD:8694309
G STAT4 signal transducer and activator of transcription 4 JBrowse link 2 191,029,576 191,172,684 RGD:8661713
RGD:11554173
RGD:8661718
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:5147902
G TLR2 toll like receptor 2 JBrowse link 4 153,684,080 153,710,643 RGD:8552883
RGD:8552915
RGD:8552888
RGD:8552885
G TLR3 toll like receptor 3 JBrowse link 4 186,069,155 186,085,098 RGD:8552883
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:7777175
RGD:8552915
RGD:8552888
RGD:7777176
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:7394759
RGD:12904048
RGD:12904040
RGD:12904036
RGD:8142356
RGD:7401213
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,757 6,342,117 RGD:7401213
RGD:8554872
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,031 RGD:8158077
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:8655578
G VIM vimentin JBrowse link 10 17,228,210 17,237,597 RGD:6480476
G VWF von Willebrand factor JBrowse link 12 5,948,874 6,124,675 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 10 75,026,427 75,073,827 RGD:8554872
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,623 RGD:9588484
RGD:8554872
RGD:7240710
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:1600008
RGD:8554872
RGD:7240710
RGD:12791266
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 40,470,961 40,473,158 RGD:8554872
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 RGD:13592920
RGD:8554872
G ZNF469 zinc finger protein 469 JBrowse link 16 88,424,805 88,440,757 RGD:13592920
RGD:8554872
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 RGD:8554872
G ZNF469 zinc finger protein 469 JBrowse link 16 88,424,805 88,440,757 RGD:8554872
RGD:11554173
RGD:7240710
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 RGD:8554872
RGD:7240710
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:9491819
RGD:8554872
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G KRT2 keratin 2 JBrowse link 12 52,644,558 52,652,175 RGD:8554872
RGD:7240710
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP1 LDL receptor related protein 1 JBrowse link 12 57,128,401 57,213,377 RGD:8554872
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:9585749
G LEMD3 LEM domain containing 3 JBrowse link 12 65,169,571 65,248,361 RGD:11553840
RGD:8554872
RGD:7240710
RGD:11553844
RGD:11553843
RGD:11553842
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,327 140,924,928 RGD:1600471
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11352608
RGD:11567236
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 532,242 535,567 RGD:11554173
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,204,789 25,251,003 RGD:1600471
RGD:8554872
RGD:11554173
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,873 66,491,544 RGD:8554872
RGD:11554173
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 19 4,090,321 4,124,184 RGD:8554872
RGD:11554173
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,898 112,509,918 RGD:8554872
RGD:11554173
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 15 66,489,748 66,497,815 RGD:8554872
G TIPIN TIMELESS interacting protein JBrowse link 15 66,334,974 66,387,273 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,204,789 25,251,003 RGD:8554872
RGD:7240710
CARDIOFACIOCUTANEOUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,873 66,491,544 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 19 4,090,321 4,124,184 RGD:8554872
RGD:7240710
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GGT2 gamma-glutamyltransferase 2 JBrowse link 22 21,207,972 21,283,023 RGD:8554872
G SNAP29 synaptosome associated protein 29 JBrowse link 22 20,859,004 20,891,214 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,830,967 152,869,363 RGD:8554872
RGD:11554173
RGD:7240710
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 17 30,968,642 30,999,911 RGD:8554872
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 247,416,156 247,449,108 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 11 119,638,098 119,728,725 RGD:8554872
RGD:11554173
RGD:7240710
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB6 gap junction protein beta 6 JBrowse link 13 20,221,962 20,232,395 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 8 72,021,251 72,094,885 RGD:10043615
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 131,808,016 131,895,155 RGD:8554872
RGD:7240710
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:8554872
RGD:7240710
RGD:11554173
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG1 desmoglein 1 JBrowse link 18 31,318,089 31,359,246 RGD:8554872
RGD:7240710
G DSG1-AS1 DSG1 antisense RNA 1 JBrowse link 18 31,343,368 31,426,988 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 14 29,576,479 29,927,805 RGD:8554872
RGD:7240710
RGD:11554173
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8554872
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 98,569,837 98,593,684 RGD:8554872
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPAG17 sperm associated antigen 17 JBrowse link 1 117,953,595 118,185,269 RGD:8554872
G WDR35 WD repeat domain 35 JBrowse link 2 19,910,260 19,990,123 RGD:11553909
RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 14 75,985,753 76,084,073 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,404 39,285,810 RGD:11552606
RGD:8554872
RGD:7240710
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:9068438
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:8549803
G MME membrane metalloendopeptidase JBrowse link 3 155,024,124 155,183,729 RGD:11554173
G NLRC4 NLR family CARD domain containing 4 JBrowse link 2 32,224,449 32,265,743 RGD:11554173
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 247,416,156 247,449,108 RGD:8554872
RGD:11554173
G PLCG2 phospholipase C gamma 2 JBrowse link 16 81,779,258 81,962,693 RGD:11554173
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,009,055 55,031,064 RGD:11035240
G FECH ferrochelatase JBrowse link 18 57,544,841 57,586,737 RGD:1598932
RGD:4145285
G UROS uroporphyrinogen III synthase JBrowse link 10 125,784,980 125,823,280 RGD:1599715
RGD:7240710
RGD:8554872
cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 16 16,149,565 16,223,617 RGD:8554872
G ATP7A ATPase copper transporting alpha JBrowse link X 77,910,656 78,050,395 RGD:734621
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,641,789 134,844,843 RGD:8554872
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 65,866,441 65,872,934 RGD:13592920
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:1580330
RGD:11554173
RGD:9585761
RGD:9585740
RGD:9585738
RGD:9585732
G FBLN5 fibulin 5 JBrowse link 14 91,869,411 91,947,702 RGD:1300360
RGD:13592920
RGD:8554872
G LTBP4 latent transforming growth factor beta binding protein 4 JBrowse link 19 40,592,888 40,629,820 RGD:13592920
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 81,932,384 81,937,328 RGD:11554173
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,407,132 47,416,501 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
RGD:7240710
G KRT10 keratin 10 JBrowse link 17 40,818,117 40,822,621 RGD:7240710
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 110,281,227 110,351,093 RGD:8554872
Darier Disease, Segmental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 110,281,227 110,351,093 RGD:8554872
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,480 49,539,538 RGD:8554872
RGD:11554173
RGD:7240710
G PGBD3 piggyBac transposable element derived 3 JBrowse link 10 49,515,105 49,524,281 RGD:8554872
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:8554872
RGD:7240710
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT9 keratin 9 JBrowse link 17 41,565,841 41,572,058 RGD:1600065
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP5 aquaporin 5 JBrowse link 12 49,961,496 49,965,682 RGD:8554872
RGD:7240710
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,541,575 7,586,717 RGD:8554872
RGD:11554173
RGD:7240710
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,541,575 7,586,717 RGD:8554872
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 58,595,204 58,749,978 RGD:11554173
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
RGD:7240710
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:11554173
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 32,207,889 32,238,664 RGD:8554872
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 119,468,938 119,494,708 RGD:8554872
RGD:7240710
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2 219,209,766 219,219,017 RGD:13592920
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2 219,209,766 219,219,017 RGD:8554872
RGD:7240710
dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,821 8,248,095 RGD:8554872
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,762,742 154,777,689 RGD:734888
RGD:8554872
RGD:11554173
RGD:11251734
RGD:11251732
RGD:11251731
RGD:10755414
G GAR1 GAR1 ribonucleoprotein JBrowse link 4 109,815,510 109,824,737 RGD:11554173
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 178,149,463 178,153,960 RGD:8554872
G PARN poly(A)-specific ribonuclease JBrowse link 16 14,435,700 14,630,286 RGD:8554872
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 17 8,247,596 8,270,491 RGD:8554872
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 20 63,657,810 63,696,253 RGD:8554872
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) JBrowse link 20 63,657,810 63,698,698 RGD:8554872
G TERC telomerase RNA component JBrowse link 3 169,764,610 169,765,060 RGD:11554173
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 RGD:8554872
RGD:11554173
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 24,239,641 24,242,674 RGD:8554872
RGD:11554173
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:13592920
ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 1 154,582,057 154,631,560 RGD:8554872
G BMS1 BMS1 ribosome biogenesis factor JBrowse link 10 42,782,506 42,834,937 RGD:8554872
RGD:7240710
G EDA ectodysplasin A JBrowse link X 69,616,067 70,039,472 RGD:8554872
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,372 RGD:8554872
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:8554872
G GJB6 gap junction protein beta 6 JBrowse link 13 20,221,962 20,232,395 RGD:1599828
RGD:8554872
RGD:7240710
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,328 75,757,819 RGD:11554173
G KRT16 keratin 16 JBrowse link 17 41,609,778 41,612,827 RGD:1600184
G KRT17 keratin 17 JBrowse link 17 41,619,440 41,624,630 RGD:1600184
G NECTIN1 nectin cell adhesion molecule 1 JBrowse link 11 119,638,098 119,728,725 RGD:1599795
G PKP1 plakophilin 1 JBrowse link 1 201,283,452 201,332,993 RGD:1599084
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:11568633
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 69,616,067 70,039,472 RGD:1598881
RGD:8554872
RGD:7240710
G EDA2R ectodysplasin A2 receptor JBrowse link X 66,594,384 66,639,303 RGD:8554872
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:8554872
RGD:7240710
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:8554872
RGD:7240710
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 1 26,949,556 26,960,496 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 22 29,073,078 29,168,333 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 21 44,497,892 44,711,580 RGD:8554872
RGD:7240710
G TSPEAR-AS1 TSPEAR antisense RNA 1 JBrowse link 21 44,506,044 44,516,575 RGD:8554872
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,372 RGD:1598883
RGD:8554872
RGD:7240710
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:8554872
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 12 53,938,792 53,946,544 RGD:11554173
G KRT74 keratin 74 JBrowse link 12 52,565,819 52,573,825 RGD:8554872
G KRT85 keratin 85 JBrowse link 12 52,360,006 52,367,525 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 12 52,565,819 52,573,825 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 12 53,938,792 53,946,544 RGD:8554872
RGD:7240710
G HOXC13-AS HOXC13 antisense RNA JBrowse link 12 53,935,328 53,939,643 RGD:8554872
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NFKBIA NFKB inhibitor alpha JBrowse link 14 35,401,510 35,404,754 RGD:8554872
RGD:7240710
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH3 cadherin 3 JBrowse link 16 68,644,836 68,727,573 RGD:8554872
RGD:7240710
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,541,575 7,586,717 RGD:8554872
G PKP1 plakophilin 1 JBrowse link 1 201,283,452 201,332,993 RGD:8554872
RGD:7240710
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECTIN4 nectin cell adhesion molecule 4 JBrowse link 1 161,070,991 161,089,595 RGD:8554872
RGD:7240710
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 101,492,439 101,678,104 RGD:8554872
RGD:7240710
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:1600403
RGD:8554872
RGD:7240710
RGD:11532814
RGD:11568642
RGD:11568640
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,561 94,431,232 RGD:8554872
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 189,596,746 189,897,279 RGD:11568074
RGD:8554872
RGD:11554173
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link 5 179,110,851 179,345,430 RGD:1598739
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 177,600,102 177,610,347 RGD:1599433
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:11571617
RGD:13592920
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,561 94,431,232 RGD:1581198
G COL3A1 collagen type III alpha 1 chain JBrowse link 2 188,974,373 189,012,746 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,641,789 134,844,843 RGD:734808
RGD:8554872
RGD:1581210
RGD:1581211
RGD:1581212
G COL5A2 collagen type V alpha 2 chain JBrowse link 2 189,031,915 189,225,301 RGD:734809
G DCN decorin JBrowse link 12 91,143,277 91,183,124 RGD:13592920
G LOX lysyl oxidase JBrowse link 5 122,063,195 122,078,501 RGD:1581895
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,667 11,975,542 RGD:1599090
RGD:13592920
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,407,132 47,416,501 RGD:11553861
RGD:11554173
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:11073604
G TNXB tenascin XB JBrowse link 6 32,041,155 32,109,374 RGD:1599494
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNXB tenascin XB JBrowse link 6 32,041,155 32,109,374 RGD:8554872
RGD:7240710
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,232,249 1,235,041 RGD:11554173
RGD:8554872
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 177,600,102 177,610,347 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 2 188,974,373 189,012,746 RGD:8554872
G COL5A2 collagen type V alpha 2 chain JBrowse link 2 189,031,915 189,225,301 RGD:8554872
G MIR1245A microRNA 1245a JBrowse link 2 188,978,092 188,978,161 RGD:8554872
G MIR1245B microRNA 1245b JBrowse link 2 188,978,093 188,978,161 RGD:8554872
G MIR3129 microRNA 3129 JBrowse link 2 189,133,036 189,133,111 RGD:8554872
G MIR3606 microRNA 3606 JBrowse link 2 188,995,630 188,995,692 RGD:8554872
G SLC40A1 solute carrier family 40 member 1 JBrowse link 2 189,560,590 189,580,811 RGD:8554872
G WDR75 WD repeat domain 75 JBrowse link 2 189,441,433 189,475,562 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,980,181 12,013,515 RGD:8554872
G MYBPC3 myosin binding protein C, cardiac JBrowse link 11 47,331,406 47,352,702 RGD:8554872
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,667 11,975,542 RGD:8554872
RGD:11554173
RGD:7240710
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,795 RGD:8554872
G TNNT2 troponin T2, cardiac type JBrowse link 1 201,359,008 201,377,828 RGD:8554872
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,407 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 12 7,080,209 7,092,607 RGD:8554872
RGD:7240710
RGD:11554173
G C1S complement C1s JBrowse link 12 7,060,661 7,071,032 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 chain JBrowse link 7 94,394,561 94,431,232 RGD:8554872
RGD:11554173
RGD:7240710
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AEBP1 AE binding protein 1 JBrowse link 7 44,104,320 44,114,565 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP14 FKBP prolyl isomerase 14 JBrowse link 7 30,010,583 30,026,801 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 40,470,961 40,473,158 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSE dermatan sulfate epimerase JBrowse link 6 116,254,152 116,441,261 RGD:8554872
RGD:7240710
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 12 7,080,209 7,092,607 RGD:8554872
G C1S complement C1s JBrowse link 12 7,060,661 7,071,032 RGD:8554872
RGD:7240710
RGD:11554173
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,232,249 1,235,041 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 73,404,239 73,421,484 RGD:8554872
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:734803
RGD:8554872
RGD:7240710
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,561 94,431,232 RGD:8554872
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,641,789 134,844,843 RGD:8554872
G COL5A2 collagen type V alpha 2 chain JBrowse link 2 189,031,915 189,225,301 RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link 5 179,110,851 179,345,430 RGD:1598738
RGD:8554872
RGD:7240710
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC39 coiled-coil domain containing 39 JBrowse link 3 180,614,008 180,679,495 RGD:8554872
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,711,197 5,829,043 RGD:1302823
RGD:8554872
RGD:7240710
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,562,408 5,709,548 RGD:1600212
RGD:8554872
RGD:7240710
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2 238,320,489 238,400,900 RGD:8554872
G WDR35 WD repeat domain 35 JBrowse link 2 19,910,260 19,990,123 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 38,411,138 38,468,834 RGD:8554872
RGD:7240710
RGD:11554173
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXPH5 exophilin 5 JBrowse link 11 108,505,431 108,607,514 RGD:11554173
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,328 75,757,819 RGD:11554173
epidermolysis bullosa dystrophica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:1600946
RGD:8554872
RGD:7240710
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743601
G MMP1 matrix metallopeptidase 1 JBrowse link 11 102,789,910 102,798,235 RGD:8549728
RGD:7240710
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
RGD:7240710
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 56,457,987 56,954,671 RGD:13592920
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,328 75,757,819 RGD:8554872
RGD:7240710
G KLHL24 kelch like family member 24 JBrowse link 3 183,635,619 183,684,519 RGD:8554872
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:1600173
RGD:8554872
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:1600195
RGD:8554872
RGD:7240710
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:13204851
G PLEC plectin JBrowse link 8 143,915,147 143,976,800 RGD:1599911
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:8554872
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,915,147 143,976,800 RGD:8554872
RGD:7240710
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 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 12 52,514,575 52,520,459 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 8 143,915,147 143,976,800 RGD:8554872
RGD:7240710
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,915,147 143,976,800 RGD:8554872
RGD:7240710
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,915,147 143,976,800 RGD:8554872
RGD:7240710
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 56,457,987 56,954,671 RGD:11554173
G KRT14 keratin 14 JBrowse link 17 41,582,279 41,586,895 RGD:8554872
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 52,514,575 52,520,459 RGD:8554872
RGD:7240710
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 56,457,987 56,954,671 RGD:8554872
RGD:7240710
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL24 kelch like family member 24 JBrowse link 3 183,635,619 183,684,519 RGD:8554872
RGD:7240710
RGD:11554173
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 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
RGD:7240710
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,541,575 7,586,717 RGD:8554872
RGD:7240710
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXPH5 exophilin 5 JBrowse link 11 108,505,431 108,607,514 RGD:8554872
RGD:7240710
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:11554173
G GJB3 gap junction protein beta 3 JBrowse link 1 34,781,189 34,786,366 RGD:11554173
G GJB4 gap junction protein beta 4 JBrowse link 1 34,759,741 34,763,724 RGD:11554173
G JUP junction plakoglobin JBrowse link 17 41,754,607 41,786,768 RGD:13592920
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:1600166
RGD:7240710
RGD:8554872
G KRT10 keratin 10 JBrowse link 17 40,818,117 40,822,621 RGD:1600168
RGD:8554872
RGD:7240710
G TMEM99 transmembrane protein 99 JBrowse link 17 40,819,092 40,836,274 RGD:8554872
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
RGD:7240710
G KRT16 keratin 16 JBrowse link 17 41,609,778 41,612,827 RGD:8554872
G KRT9 keratin 9 JBrowse link 17 41,565,841 41,572,058 RGD:8554872
RGD:7240710
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT9 keratin 9 JBrowse link 17 41,565,841 41,572,058 RGD:8554872
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,577 121,449,744 RGD:11568612
RGD:8554872
G GJB3 gap junction protein beta 3 JBrowse link 1 34,781,189 34,786,366 RGD:1578480
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11251416
RGD:12437067
RGD:12436734
RGD:11097171
RGD:12436731
RGD:12436729
RGD:12050153
G GJB4 gap junction protein beta 4 JBrowse link 1 34,759,741 34,763,724 RGD:1598970
RGD:8554872
RGD:12437072
RGD:1598971
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB4 gap junction protein beta 4 JBrowse link 1 34,759,741 34,763,724 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 6 121,435,577 121,449,744 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 18 63,327,736 63,367,273 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT83 keratin 83 JBrowse link 12 52,314,301 52,321,398 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 1 34,781,189 34,786,366 RGD:12050155
RGD:12436733
Erythrokeratodermia with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 79,914,812 79,947,598 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 4 88,090,264 88,231,626 RGD:13592920
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,009,055 55,031,064 RGD:13592920
G AREG amphiregulin JBrowse link 4 74,445,098 74,455,009 RGD:11554173
G BTC betacellulin JBrowse link 4 74,744,759 74,794,718 RGD:11554173
G EREG epiregulin JBrowse link 4 74,365,143 74,388,760 RGD:11554173
G FECH ferrochelatase JBrowse link 18 57,544,841 57,586,737 RGD:8554872
RGD:11554173
RGD:7240710
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,009,055 55,031,064 RGD:8554872
RGD:7240710
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSTA cystatin A JBrowse link 3 122,325,164 122,341,969 RGD:8554872
RGD:7240710
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWIST2 twist family bHLH transcription factor 2 JBrowse link 2 238,848,032 238,910,548 RGD:8554872
RGD:7240710
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFAIP3 TNF alpha induced protein 3 JBrowse link 6 137,866,317 137,883,314 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 19 53,793,584 53,824,403 RGD:8554872
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 247,416,156 247,449,108 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 1 247,416,156 247,449,108 RGD:8554872
RGD:7240710
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 19 53,793,584 53,824,403 RGD:8554872
RGD:7240710
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCG2 phospholipase C gamma 2 JBrowse link 16 81,779,258 81,962,693 RGD:8554872
RGD:7240710
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 2 32,224,449 32,265,743 RGD:8554872
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 3 186,842,674 186,858,463 RGD:5686880
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 61,679,186 61,864,120 RGD:8554872
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:9480233
G FBN2 fibrillin 2 JBrowse link 5 128,257,909 128,538,042 RGD:8554872
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:5508806
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:8655877
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:6482659
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:5686880
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,674,046 RGD:8554872
G LPA lipoprotein(a) JBrowse link 6 160,531,483 160,666,375 RGD:5509912
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,242,028 3,256,776 RGD:5129184
RGD:8554872
RGD:11554173
RGD:7240710
RGD:7349344
RGD:7349343
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 50,693,587 50,733,077 RGD:13204709
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 6 51,614,685 52,087,625 RGD:8554872
G POMC proopiomelanocortin JBrowse link 2 25,160,853 25,168,851 RGD:5508806
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,346,843 6,377,357 RGD:8554872
G SERPINA1 serpin family A member 1 JBrowse link 14 94,376,747 94,390,692 RGD:8554872
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:13207415
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
G THBD thrombomodulin JBrowse link 20 23,045,633 23,049,664 RGD:5685013
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:7794686
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,757 6,342,117 RGD:8554872
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,242,028 3,256,776 RGD:8554872
RGD:7240710
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PORCN porcupine O-acyltransferase JBrowse link X 48,508,959 48,520,814 RGD:8554872
RGD:11554173
RGD:7240710
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 JBrowse link 10 93,061,264 93,068,697 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 member 1 JBrowse link 10 93,061,264 93,068,697 RGD:8554872
RGD:7240710
Generalized Elastolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,407,132 47,416,501 RGD:8554872
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GORAB golgin, RAB6 interacting JBrowse link 1 170,532,122 170,553,834 RGD:8554872
RGD:11554173
RGD:7240710
G GORAB-AS1 GORAB antisense RNA 1 JBrowse link 1 170,461,317 170,532,609 RGD:8554872
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
RGD:7240710
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:8554872
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2 237,486,410 237,555,318 RGD:8554872
RGD:7240710
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
Hailey-Hailey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 JBrowse link 3 130,850,500 131,016,712 RGD:8554872
RGD:11554173
RGD:7240710
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 98,569,837 98,593,684 RGD:8554872
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN10 claudin 10 JBrowse link 13 95,433,588 95,579,756 RGD:8554872
RGD:7240710
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 9 113,386,312 113,401,338 RGD:4144806
RGD:11554173
G CPOX coproporphyrinogen oxidase JBrowse link 3 98,569,837 98,593,684 RGD:4144824
G FECH ferrochelatase JBrowse link 18 57,544,841 57,586,737 RGD:4144806
G HMBS hydroxymethylbilane synthase JBrowse link 11 119,084,864 119,093,549 RGD:4144806
G PPOX protoporphyrinogen oxidase JBrowse link 1 161,165,824 161,178,277 RGD:1599176
RGD:4145281
RGD:1599172
RGD:1599174
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,012,133 45,015,669 RGD:4144806
RGD:8554872
RGD:4145290
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,012,133 45,015,669 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 2 32,224,449 32,265,743 RGD:11554173
G TNFAIP3 TNF alpha induced protein 3 JBrowse link 6 137,866,317 137,883,314 RGD:11554173
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 98,569,837 98,593,684 RGD:8554872
RGD:11554173
RGD:7240710
hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT13 keratin 13 JBrowse link 17 41,500,981 41,505,613 RGD:8554872
RGD:7240710
G KRT4 keratin 4 JBrowse link 12 52,806,543 52,814,116 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:11554173
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,745 45,202,715 RGD:8554872
RGD:11554173
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,716,115 6,717,660 RGD:13592920
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,013,567 8,064,414 RGD:13592920
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 45,587,123 45,609,716 RGD:8554872
RGD:11554173
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 35,871,491 35,880,373 RGD:4891476
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2 136,114,349 136,118,155 RGD:11352293
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:11251756
RGD:11554173
RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:1599538
RGD:8554872
RGD:11554173
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:1599546
RGD:8554872
RGD:11554173
RGD:11354897
RGD:11353873
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:11072072
RGD:8554872
RGD:11554173
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,367 102,068,038 RGD:632833
RGD:11554173
RGD:8554872
RGD:11073544
G KXD1 KxDL motif containing 1 JBrowse link 19 18,557,762 18,569,387 RGD:13592920
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 87,809,490 88,175,504 RGD:2324690
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 24,265,538 24,271,627 RGD:13592920
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 138,164,094 138,242,349 RGD:13592920
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 45,162,928 45,179,266 RGD:8554872
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 122,229,561 122,266,823 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:1625056
RGD:8554872
RGD:7240710
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:8554872
RGD:7240710
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:11041885
RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,367 102,068,038 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,745 45,202,715 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 45,587,123 45,609,716 RGD:7240710
RGD:8554872
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1B DNA cross-link repair 1B JBrowse link 1 113,904,619 113,914,086 RGD:8554872
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,762,742 154,777,689 RGD:8554872
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,167 1,295,047 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 17 41,609,778 41,612,827 RGD:8554872
G KRT6C keratin 6C JBrowse link 12 52,468,516 52,473,785 RGD:8554872
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 69,616,067 70,039,472 RGD:8554872
RGD:13592920
G EDA2R ectodysplasin A2 receptor JBrowse link X 66,594,384 66,639,303 RGD:8554872
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,372 RGD:8554872
RGD:13592920
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:13592920
RGD:8554872
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:13592920
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872
G TRAF6 TNF receptor associated factor 6 JBrowse link 11 36,483,767 36,510,313 RGD:13592920
G WNT10A Wnt family member 10A JBrowse link 2 218,874,116 218,893,931 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDAR ectodysplasin A receptor JBrowse link 2 108,894,471 108,989,372 RGD:8554872
RGD:7240710
G EDARADD EDAR associated death domain JBrowse link 1 236,394,380 236,484,708 RGD:8554872
G RANBP2 RAN binding protein 2 JBrowse link 2 108,719,446 109,842,301 RGD:8554872
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:12791265
RGD:8554872
RGD:7240710
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 154,542,240 154,565,046 RGD:8554872
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 152,302,175 152,325,203 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G FLG-AS1 FLG antisense RNA 1 JBrowse link 1 152,313,459 152,366,692 RGD:8554872
G LBR lamin B receptor JBrowse link 1 225,401,502 225,428,855 RGD:13592920
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA3 integrin subunit alpha 3 JBrowse link 17 50,055,968 50,090,485 RGD:8554872
RGD:7240710
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 14 58,244,805 58,272,009 RGD:8554872
G PSMA3-AS1 PSMA3 antisense RNA 1 JBrowse link 14 58,265,365 58,298,137 RGD:8554872
G PSMB8 proteasome subunit beta 8 JBrowse link 6 32,840,717 32,844,935 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 15 42,942,897 43,106,088 RGD:8554872
RGD:7240710
junctional epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL17A1 collagen type XVII alpha 1 chain JBrowse link 10 104,031,288 104,085,880 RGD:1600884
RGD:8554872
G ITGA6 integrin subunit alpha 6 JBrowse link 2 172,427,354 172,506,455 RGD:1600016
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,328 75,757,819 RGD:11554173
G LAMA3 laminin subunit alpha 3 JBrowse link 18 23,689,443 23,955,066 RGD:1600080
RGD:8554872
RGD:11554173
G LAMB3 laminin subunit beta 3 JBrowse link 1 209,614,870 209,652,475 RGD:1600209
RGD:8554872
RGD:11554173
G LAMC2 laminin subunit gamma 2 JBrowse link 1 183,186,039 183,245,127 RGD:1600210
RGD:8554872
RGD:11554173
G MIR4260 microRNA 4260 JBrowse link 1 209,623,444 209,623,510 RGD:8554872
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA6 integrin subunit alpha 6 JBrowse link 2 172,427,354 172,506,455 RGD:13592920
G LAMA3 laminin subunit alpha 3 JBrowse link 18 23,689,443 23,955,066 RGD:8554872
RGD:7240710
G LAMB3 laminin subunit beta 3 JBrowse link 1 209,614,870 209,652,475 RGD:8554872
RGD:7240710
G LAMC2 laminin subunit gamma 2 JBrowse link 1 183,186,039 183,245,127 RGD:8554872
RGD:7240710
G MIR4260 microRNA 4260 JBrowse link 1 209,623,444 209,623,510 RGD:8554872
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL17A1 collagen type XVII alpha 1 chain JBrowse link 10 104,031,288 104,085,880 RGD:8554872
RGD:11554173
RGD:7240710
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,721,328 75,757,819 RGD:8554872
RGD:7240710
G LAMA3 laminin subunit alpha 3 JBrowse link 18 23,689,443 23,955,066 RGD:8554872
RGD:7240710
G LAMB3 laminin subunit beta 3 JBrowse link 1 209,614,870 209,652,475 RGD:8554872
RGD:7240710
G LAMC2 laminin subunit gamma 2 JBrowse link 1 183,186,039 183,245,127 RGD:8554872
RGD:11554173
RGD:7240710
G MIR4260 microRNA 4260 JBrowse link 1 209,623,444 209,623,510 RGD:8554872
junctional epidermolysis bullosa with pyloric atresia term browser