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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 10 88,032,130 88,036,040 RGD:1304472
G Krt4 keratin 4 JBrowse link 7 143,517,562 143,523,522 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 95,884,020 95,945,248 RGD:7240710
RGD:8554872
Actinic Prurigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365088
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link 11 64,600,968 64,714,114 RGD:8554872
RGD:11554173
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:11554173
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:11554173
RGD:8554872
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:8554872
RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 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 11 64,600,968 64,714,114 RGD:7240710
RGD:8554872
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link 8 22,822,412 22,874,670 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 4 129,477,779 129,515,435 RGD:7240710
RGD:8554872
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camsap1 calmodulin regulated spectrin-associated protein 1 JBrowse link 3 3,373,971 3,434,027 RGD:8554872
G Card9 caspase recruitment domain family, member 9 JBrowse link 3 3,798,346 3,806,841 RGD:8554872
G Dnlz DNL-type zinc finger JBrowse link 3 3,796,480 3,798,467 RGD:8554872
G Entr1 endosome associated trafficking regulator 1 JBrowse link 3 3,827,498 3,834,219 RGD:8554872
G Gpsm1 G-protein signaling modulator 1 JBrowse link 3 3,767,394 3,794,360 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Nacc2 NACC family member 2 JBrowse link 3 3,508,084 3,574,787 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:7240710
RGD:8554872
G Pmpca peptidase, mitochondrial processing alpha subunit JBrowse link 3 3,834,262 3,842,061 RGD:8554872
G Qsox2 quiescin sulfhydryl oxidase 2 JBrowse link 3 3,662,324 3,691,972 RGD:8554872
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor JBrowse link 3 3,856,218 3,890,785 RGD:8554872
G Snapc4 small nuclear RNA activating complex, polypeptide 4 JBrowse link 3 3,808,596 3,827,425 RGD:8554872
G Tmem250 transmembrane protein 250 JBrowse link 3 3,590,783 3,594,475 RGD:8554872
G Ubac1 UBA domain containing 1 JBrowse link 3 3,453,396 3,476,242 RGD:8554872
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link 3 111,135,011 111,146,746 RGD:8554872
RGD:7240710
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:7240710
RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449130
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo RGD:12792973
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 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 20 37,876,650 37,889,097 RGD:8554872
Anhidrotic Ectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:1598881
RGD:8554872
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link X 66,560,200 66,602,509 RGD:8554872
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:7240710
RGD:8554872
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:7240710
RGD:8554872
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:8554872
RGD:11568643
RGD:11554173
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
RGD:7240710
G Nlrp5 NLR family, pyrin domain containing 5 JBrowse link 1 71,452,184 71,490,915 RGD:8554872
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:13592920
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
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 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 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 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11 MRE11 homolog, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
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 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actl9 actin-like 9 JBrowse link 7 18,310,624 18,312,001 RGD:11554173
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:13592920
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11040546
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:8657028
RGD:8657069
RGD:8657067
RGD:8657065
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401273
G Card11 caspase recruitment domain family, member 11 JBrowse link 12 15,700,600 15,844,512 RGD:11554173
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:13592920
G Ccdc80 coiled-coil domain containing 80 JBrowse link 11 60,645,660 60,679,249 RGD:11554173
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:11554173
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:11554173
G Ccl20 C-C motif chemokine ligand 20 JBrowse link 9 88,918,359 88,921,017 RGD:7483580
RGD:7483583
G Ccl22 C-C motif chemokine ligand 22 JBrowse link 19 10,674,189 10,681,145 RGD:11554173
G Ccl24 C-C motif chemokine ligand 24 JBrowse link 12 24,131,529 24,152,626 RGD:11554173
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11087554
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:1626250
G Ccl28 C-C motif chemokine ligand 28 JBrowse link 2 52,379,341 52,403,979 RGD:4892193
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:11554173
G Ccr2 C-C motif chemokine receptor 2 RGD:8661734
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6893391
RGD:11554173
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:6893391
RGD:11554173
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5132274
G Cldn1 claudin 1 JBrowse link 11 77,815,216 77,830,373 RGD:11344875
G Cldn23 claudin 23 JBrowse link 16 59,988,603 59,990,327 RGD:11344875
G Cma1 chymase 1 JBrowse link 15 34,601,037 34,603,819 RGD:1625394
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7411698
RGD:7411700
G Ctse cathepsin E JBrowse link 13 48,426,833 48,449,493 RGD:13592920
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:9491761
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9491393
RGD:9491761
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:11554173
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:11554173
G Emsy EMSY transcriptional repressor, BRCA2 interacting JBrowse link 1 163,541,071 163,618,576 RGD:11554173
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:5147756
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147985
RGD:5508430
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:11554173
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:5490539
RGD:5490981
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:5490540
RGD:5490981
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:5490540
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 10 31,813,819 31,860,934 RGD:5128852
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5128889
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157618
RGD:11554173
G Ifnl3 interferon, lambda 3 JBrowse link 1 85,236,243 85,237,775 RGD:11554173
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364805
RGD:11554173
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 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 122,724,081 122,783,801 RGD:8549525
G Il13ra2 interleukin 13 receptor subunit alpha 2 JBrowse link X 118,443,955 118,514,716 RGD:8549521
RGD:8549556
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698670
RGD:9068436
RGD:9068417
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655872
RGD:13592920
RGD:8655914
RGD:8655908
RGD:8655876
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8662961
RGD:8693325
RGD:8549583
RGD:8663473
RGD:8663444
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892938
G Il31 interleukin 31 JBrowse link 12 38,527,575 38,538,086 RGD:11554173
G Il33 interleukin 33 JBrowse link 1 248,112,611 248,147,030 RGD:11554173
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7829786
RGD:11554173
RGD:7829795
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:11530001
G Il5 interleukin 5 JBrowse link 10 39,066,716 39,069,587 RGD:5687175
RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:8693720
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:5687321
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204759
G Ms4a2 membrane spanning 4-domains A2 JBrowse link 1 227,957,363 227,965,312 RGD:1599903
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552664
RGD:8552668
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:13592920
G Nfkbiz NFKB inhibitor zeta JBrowse link 11 47,243,342 47,271,487 RGD:13592920
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8657069
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508452
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5144116
RGD:5684771
G Ovol1 ovo like transcriptional repressor 1 JBrowse link 1 220,927,309 220,938,814 RGD:11554173
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:5509940
RGD:11554173
G Relb RELB proto-oncogene, NF-kB subunit JBrowse link 1 80,517,081 80,545,019 RGD:7777149
RGD:13592920
G S100a8 S100 calcium binding protein A8 JBrowse link 2 190,073,239 190,074,333 RGD:11554173
G Sele selectin E JBrowse link 13 82,355,234 82,365,323 RGD:11554173
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:1599904
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:13592920
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:11554173
G Stat6 signal transducer and activator of transcription 6 JBrowse link 7 70,946,228 70,963,542 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:1331525
RGD:7394812
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552997
RGD:8553048
RGD:8552999
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794689
RGD:7794745
G Tmem79 transmembrane protein 79 JBrowse link 2 187,701,522 187,706,452 RGD:13592920
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7401246
G Tnfaip6 TNF alpha induced protein 6 JBrowse link 3 37,545,238 37,564,704 RGD:7777183
G Traf3ip2 Traf3 interacting protein 2 JBrowse link 20 44,679,861 44,722,874 RGD:13592920
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:13592920
G Tslp thymic stromal lymphopoietin JBrowse link 18 25,613,601 25,618,066 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8157625
G Vnn1 vanin 1 JBrowse link 1 22,614,832 22,625,134 RGD:11554173
G Wasl WASP like actin nucleation promoting factor JBrowse link 4 51,677,722 51,726,212 RGD:13592920
G Zfp365 zinc finger protein 365 JBrowse link 20 22,060,160 22,083,766 RGD:11554173
atopic dermatitis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:8554872
RGD:11554173
RGD:7240710
atopic dermatitis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Socs3 suppressor of cytokine signaling 3 JBrowse link 10 106,973,863 106,976,969 RGD:7240710
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp1a NLR family, pyrin domain containing 1A JBrowse link 10 57,692,474 57,747,608 RGD:8554872
RGD:7240710
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 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 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:11554173
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:11554173
RGD:8554872
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:8554872
RGD:7240710
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:8554872
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt3 actin-related protein T3 JBrowse link 2 116,416,561 116,418,521 RGD:8554872
G Inpp4a inositol polyphosphate-4-phosphatase type I A JBrowse link 9 43,889,887 44,006,593 RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:8554872
RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 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 2 116,432,723 116,433,110 RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:13592920
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:13592920
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 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 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 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 19 37,665,289 37,668,043 RGD:7240710
RGD:8554872
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7240710
RGD:8554872
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 9 52,023,295 52,059,221 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 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 7 71,152,366 71,169,510 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 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 9 78,521,477 78,693,421 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 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 20 6,101,061 6,143,762 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 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 7 13,938,376 13,944,286 RGD:8554872
RGD:7240710
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 7 71,152,366 71,169,510 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:7240710
RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:11554173
RGD:8554872
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 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 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
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 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:13592920
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:13592920
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 1 127,706,618 127,781,041 RGD:7240710
RGD:8554872
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:11554173
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 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 1 220,853,695 220,861,420 RGD:8554872
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:7240710
RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Banf1 barrier to autointegration factor 1 JBrowse link 1 220,744,195 220,746,224 RGD:8554872
G Bles03 basophilic leukemia expressed protein BLES03 JBrowse link 1 220,806,563 220,808,817 RGD:8554872
G Brms1 BRMS1, transcriptional repressor and anoikis regulator JBrowse link 1 220,325,352 220,334,616 RGD:8554872
G Catsper1 cation channel, sperm associated 1 JBrowse link 1 220,715,000 220,724,235 RGD:8554872
G Ccdc85b coiled-coil domain containing 85B JBrowse link 1 220,835,647 220,837,220 RGD:8554872
G Cd248 CD248 molecule JBrowse link 1 220,353,308 220,355,872 RGD:8554872
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 JBrowse link 1 220,474,485 220,480,723 RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:8554872
G Ctsw cathepsin W JBrowse link 1 220,844,579 220,847,967 RGD:8554872
G Drap1 Dr1 associated protein 1 JBrowse link 1 220,803,783 220,806,480 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:7240710
RGD:8554872
G Eif1ad eukaryotic translation initiation factor 1A domain containing JBrowse link 1 220,746,387 220,751,687 RGD:8554872
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
G Fosl1 FOS like 1, AP-1 transcription factor subunit JBrowse link 1 220,826,560 220,835,066 RGD:8554872
G Gal3st3 galactose-3-O-sulfotransferase 3 JBrowse link 1 220,668,544 220,678,300 RGD:8554872
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
G Rab1b RAB1B, member RAS oncogene family JBrowse link 1 220,483,529 220,491,469 RGD:8554872
G Rin1 Ras and Rab interactor 1 JBrowse link 1 220,335,036 220,342,319 RGD:8554872
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP JBrowse link 1 220,762,496 220,771,158 RGD:8554872
G Sf3b2 splicing factor 3b, subunit 2 JBrowse link 1 220,645,685 220,665,611 RGD:8554872
G Tmem151a transmembrane protein 151A JBrowse link 1 220,373,288 220,378,080 RGD:8554872
G Tsga10ip testis specific 10 interacting protein JBrowse link 1 220,772,592 220,786,952 RGD:8554872
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein JBrowse link 1 220,470,070 220,474,131 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 1 84,118,046 84,152,095 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 JBrowse link 4 153,351,434 153,373,558 RGD:8554872
RGD:7240710
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 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710
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 1 259,641,673 259,674,521 RGD:8554872
RGD:13434923
RGD:13434922
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 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 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:11554173
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:11554173
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:13592920
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
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 10 56,169,024 56,185,800 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 3 176,857,667 176,865,105 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
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 10 1,309,724 1,461,123 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 19 37,665,289 37,668,043 RGD:8554872
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
RGD:7364821
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:8554872
RGD:7240710
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
Behcet's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:8657073
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:7829810
RGD:8142349
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694430
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:11554173
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068907
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548882
RGD:8549488
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:11554173
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4892106
RGD:8551827
RGD:8551814
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547820
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7411737
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:1598474
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491757
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7411682
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:8552789
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661801
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7394769
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662438
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508432
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:7777175
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158115
RGD:11554173
RGD:8547575
RGD:8158123
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142356
RGD:8142377
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:12791269
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:1598628
RGD:14975256
RGD:14975149
RGD:14975131
RGD:11554173
RGD:7364843
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698672
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889844
RGD:8655927
RGD:8655926
RGD:8655910
RGD:8655897
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401213
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7401213
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:5147902
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892926
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549550
RGD:8549565
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5147902
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829752
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582300
G Itgal integrin subunit alpha L JBrowse link 1 198,744,053 198,781,745 RGD:11554173
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:1582155
RGD:1582154
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657044
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547820
RGD:8657044
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552650
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8158059
RGD:13204711
RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771576
RGD:7775050
RGD:7775048
RGD:7771577
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547573
G Proz protein Z, vitamin K-dependent plasma glycoprotein JBrowse link 16 81,784,348 81,797,889 RGD:1580692
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 JBrowse link 8 60,760,040 60,799,364 RGD:8554872
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484733
RGD:7829745
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7483565
G RT1-CE13 RT1 class I, locus CE13 RGD:7364873
RGD:7364939
RGD:7364918
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365104
G RT1-DMa RT1 class II, locus DMa JBrowse link 20 3,935,512 3,938,915 RGD:1582700
G RT1-DMb RT1 class II, locus DMb JBrowse link 20 3,945,383 3,952,838 RGD:1582700
G RT1-M5 RT1 class Ib, locus M5 JBrowse link 20 2,038,158 2,040,422 RGD:7364939
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547693
RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684936
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1580846
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6483021
RGD:8694309
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661713
RGD:11554173
RGD:8661718
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:5147902
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552883
RGD:8552915
RGD:8552888
RGD:8552885
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:8552883
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777175
RGD:8552915
RGD:8552888
RGD:7777176
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394759
RGD:12904048
RGD:12904040
RGD:12904036
RGD:8142356
RGD:7401213
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7401213
RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8158077
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8655578
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:6480476
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 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 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:1600008
RGD:8554872
RGD:12791266
RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:8554872
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:13592920
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:13592920
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:7240710
RGD:8554872
RGD:11554173
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:7240710
RGD:8554872
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 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 8 117,694,441 117,726,844 RGD:8554872
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:7240710
RGD:8554872
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:8554872
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585749
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:7240710
RGD:8554872
RGD:11553844
RGD:11553843
RGD:11553842
RGD:11553840
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:7240710
RGD:8554872
Cardiac Valvular Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11565121
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
RGD:1600471
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
Cardiofaciocutaneous Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 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 7 11,458,971 11,478,520 RGD:7240710
RGD:8554872
Carvajal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 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 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
RGD:11554173
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 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 8 48,094,233 48,198,499 RGD:7240710
RGD:11554173
RGD:8554872
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 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 5 3,783,247 3,836,485 RGD:10043615
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:7240710
RGD:8554872
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 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
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 12,008,301 12,040,337 RGD:7240710
RGD:8554872
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkd1 protein kinase D1 JBrowse link 6 71,035,017 71,349,531 RGD:8554872
RGD:7240710
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 1 80,293,574 80,307,334 RGD:8554872
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapre2 microtubule-associated protein, RP/EB family, member 2 JBrowse link 18 14,814,149 15,780,290 RGD:7240710
RGD:8554872
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
Cranioectodermal Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:8554872
RGD:7240710
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
RGD:11553909
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:7240710
RGD:8554872
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
RGD:11552606
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068438
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549803
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:11554173
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:11554173
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:11554173
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:11554173
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:11035240
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:1598932
RGD:4145285
G Uros uroporphyrinogen III synthase JBrowse link 1 205,755,766 205,778,170 RGD:1599715
RGD:8554872
RGD:7240710
cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 1 220,853,695 220,861,420 RGD:13592920
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:1580330
RGD:11554173
RGD:9585761
RGD:9585740
RGD:9585738
RGD:9585732
G Fbln5 fibulin 5 JBrowse link 6 125,644,797 125,723,957 RGD:1300360
RGD:13592920
RGD:8554872
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 1 84,118,046 84,152,095 RGD:13592920
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:11554173
RGD:8554872
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 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 39,553,903 39,603,326 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 39,553,903 39,603,326 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 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8554872
RGD:7240710
dermatopathia pigmentosa reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:1600065
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp5 aquaporin 5 JBrowse link 7 141,249,044 141,252,576 RGD:7240710
RGD:8554872
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:11554173
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:11554173
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:7240710
RGD:8554872
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:7240710
RGD:8554872
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:13592920
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:13592920
Dyschromatosis Universalis Hereditaria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sash1 SAM and SH3 domain containing 1 JBrowse link 1 2,782,905 2,950,749 RGD:7240710
RGD:8554872
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:7240710
RGD:8554872
dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:734888
RGD:8554872
RGD:11554173
RGD:11251734
RGD:11251732
RGD:11251731
RGD:10755414
G Gar1 GAR1 ribonucleoprotein JBrowse link 2 235,250,453 235,258,464 RGD:11554173
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
RGD:8554872
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:13592920
ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase, RNA-specific JBrowse link 2 189,045,551 189,085,448 RGD:8554872
G Bms1 BMS1 ribosome biogenesis factor JBrowse link 4 150,433,567 150,471,783 RGD:8554872
RGD:7240710
G Eda ectodysplasin-A JBrowse link X 69,730,123 70,222,693 RGD:8554872
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:1599828
RGD:8554872
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:1600184
G Krt17 keratin 17 JBrowse link 10 88,158,993 88,163,712 RGD:1600184
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:1599795
G Pkp1 plakophilin 1 JBrowse link 13 52,705,174 52,753,089 RGD:1599084
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11568633
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 17 90,802,280 90,843,476 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdf1 keratinocyte differentiation factor 1 JBrowse link 5 151,740,902 151,752,863 RGD:8554872
RGD:7240710
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 14 85,441,209 85,503,661 RGD:8554872
RGD:7240710
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 20 11,501,510 11,529,210 RGD:8554872
RGD:7240710
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:1598883
RGD:8554872
RGD:7240710
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:8554872
RGD:11554173
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:11554173
G Krt85 keratin 85 JBrowse link 7 143,160,480 143,167,828 RGD:7240710
RGD:8554872
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link 7 144,531,814 144,538,298 RGD:7240710
RGD:8554872
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link 19 38,668,957 38,719,801 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Pkp1 plakophilin 1 JBrowse link 13 52,705,174 52,753,089 RGD:7240710
RGD:8554872
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link 13 89,755,665 89,774,185 RGD:7240710
RGD:8554872
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead-like transcription factor 2 JBrowse link 7 76,058,623 76,197,360 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 11 78,234,853 78,456,559 RGD:1600403
RGD:8554872
RGD:11532814
RGD:11568642
RGD:11568640
RGD:7240710
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:1599433
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:11571617
RGD:13592920
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581198
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:1300381
RGD:8554872
RGD:11554173
RGD:11041602
RGD:11041599
RGD:7257554
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:1581210
RGD:8554872
RGD:1581211
RGD:1581212
RGD:734808
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:734809
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:13592920
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:13592920
RGD:8554872
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:11553861
RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073604
G Tnxb tenascin XB RGD:1599494
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB RGD:7240710
RGD:8554872
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:8554872
G Wdr75 WD repeat domain 75 JBrowse link 9 52,687,845 52,717,808 RGD:8554872
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:7240710
RGD:8554872
RGD:11554173
Ehlers-Danlos Syndrome Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
RGD:7240710
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 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 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
RGD:11554173
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link 14 86,101,253 86,111,323 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 4 84,753,628 84,768,314 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link 3 110,734,105 110,736,162 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
RGD:7240710
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 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734803
RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 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 10 36,098,051 36,304,416 RGD:7240710
RGD:8554872
RGD:1598738
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:1302823
RGD:8554872
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:1600212
RGD:8554872
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 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 16 71,265,390 71,319,046 RGD:8554872
RGD:7240710
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 8 57,885,932 57,962,574 RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 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 8 117,694,441 117,726,844 RGD:1600946
RGD:8554872
RGD:7240710
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743601
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:7240710
RGD:8549728
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 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 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:13592920
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:8554872
RGD:11554173
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:1600173
RGD:11554173
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:1600195
RGD:11554173
RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204851
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:1599911
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872
RGD:7240710
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872
RGD:7240710
epidermolysis bullosa simplex localized type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 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 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adck5 aarF domain containing kinase 5 JBrowse link 7 117,643,976 117,661,789 RGD:8554872
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:8554872
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:8554872
G Cyhr1 cysteine and histidine rich 1 JBrowse link 7 117,720,909 117,722,734 RGD:8554872
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:8554872
G Exosc4 exosome component 4 JBrowse link 7 117,390,302 117,393,044 RGD:8554872
G Fbxl6 F-box and leucine-rich repeat protein 6 JBrowse link 7 117,602,056 117,604,954 RGD:8554872
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:8554872
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 JBrowse link 7 117,304,742 117,307,916 RGD:8554872
G Hgh1 HGH1 homolog JBrowse link 7 117,434,419 117,437,208 RGD:8554872
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:8554872
G Kifc2 kinesin family member C2 JBrowse link 7 117,722,732 117,730,702 RGD:8554872
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III JBrowse link 7 117,417,643 117,420,722 RGD:8554872
G Mroh1 maestro heat-like repeat family member 1 JBrowse link 7 117,445,191 117,472,418 RGD:8554872
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:8554872
G Parp10 poly (ADP-ribose) polymerase family, member 10 JBrowse link 7 117,291,592 117,300,878 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G Scrt1 scratch family transcriptional repressor 1 JBrowse link 7 117,583,453 117,587,103 RGD:8554872
G Scx scleraxis bHLH transcription factor JBrowse link 7 117,519,075 117,521,093 RGD:8554872
G Sharpin SHANK-associated RH domain interactor JBrowse link 7 117,413,151 117,417,455 RGD:8554872
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:8554872
G Slc52a2 solute carrier family 52 member 2 JBrowse link 7 117,605,038 117,608,460 RGD:8554872
G Spatc1 spermatogenesis and centriole associated 1 JBrowse link 7 117,326,279 117,349,957 RGD:8554872
G Tmem249 transmembrane protein 249 JBrowse link 7 117,599,001 117,601,894 RGD:8554872
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:8554872
G Vps28 VPS28 subunit of ESCRT-I JBrowse link 7 117,684,339 117,688,187 RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:11554173
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
RGD:7240710
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 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link 8 57,885,932 57,962,574 RGD:7240710
RGD:8554872
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:1600166
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:1600168
RGD:8554872
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt16 keratin 16 JBrowse link 10 88,149,210 88,152,167 RGD:8554872
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:7240710
RGD:8554872
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link 10 88,102,519 88,107,232 RGD:8554872
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:11568612
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:1578480
RGD:8554872
RGD:11251416
RGD:12437067
RGD:12436734
RGD:11097171
RGD:12436731
RGD:12436729
RGD:12050153
RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:1598970
RGD:8554872
RGD:12437072
RGD:1598971
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:7240710
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link 13 26,779,386 26,812,271 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 7 143,078,996 143,085,833 RGD:8554872
RGD:7240710
Erythrokeratodermia Variabilis et Progressiva 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 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 5 145,390,590 145,397,271 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 8 91,310,690 91,338,625 RGD:8554872
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:13592920
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:13592920
G Areg amphiregulin JBrowse link 14 18,521,921 18,531,179 RGD:11554173
G Btc betacellulin JBrowse link 14 18,231,854 18,270,621 RGD:11554173
G Ereg epiregulin JBrowse link 14 18,577,620 18,591,395 RGD:11554173
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:8554872
RGD:14700889
RGD:14700886
RGD:14700883
RGD:11556165
RGD:11554173
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:7240710
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
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 23,167,576 23,187,356 RGD:7240710
RGD:8554872
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfaip3 TNF alpha induced protein 3 JBrowse link 1 14,401,103 14,416,369 RGD:8554872
RGD:7240710
familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:8554872
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 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 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
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 1 64,506,750 64,543,908 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 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