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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 Krt4 keratin 4 JBrowse link NW_004955458 108,803 115,755 RGD:9068941
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link NW_004955427 19,019,008 19,136,298 RGD:9068941
G Dll4 delta like canonical Notch ligand 4 JBrowse link NW_004955416 7,807,049 7,816,346 RGD:9068941
G Dock6 dedicator of cytokinesis 6 JBrowse link NW_004955495 2,174,802 2,216,424 RGD:9068941
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link NW_004955421 18,845,626 18,879,008 RGD:9068941
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link NW_004955443 18,783,061 19,029,441 RGD:9068941
Adams-Oliver Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap31 Rho GTPase activating protein 31 JBrowse link NW_004955427 19,019,008 19,136,298 RGD:7240710
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock6 dedicator of cytokinesis 6 JBrowse link NW_004955495 2,174,802 2,216,424 RGD:9068941
RGD:7240710
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link NW_004955443 18,783,061 19,029,441 RGD:9068941
RGD:7240710
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eogt EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link NW_004955421 18,845,626 18,879,008 RGD:9068941
RGD:7240710
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch receptor 1 JBrowse link NW_004955513 4,225,939 4,264,875 RGD:9068941
RGD:7240710
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll4 delta like canonical Notch ligand 4 JBrowse link NW_004955416 7,807,049 7,816,346 RGD:9068941
RGD:7240710
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link NW_004955420 18,178,639 18,384,786 RGD:9068941
RGD:7240710
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link NW_004955419 14,093,010 14,104,376 RGD:9068941
RGD:7240710
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004955580 1,045,294 1,058,129 RGD:9068941
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link NW_004955543 692,035 717,364 RGD:9068941
RGD:7240710
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
G Nrl neural retina leucine zipper JBrowse link NW_004955409 36,279,996 36,313,824 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
Alopecia Congenita Keratosis Palmoplantaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein alpha 1 JBrowse link NW_004955436 3,612,533 3,618,095 RGD:9068941
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
RGD:7240710
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link NW_004955420 18,178,639 18,384,786 RGD:9068941
RGD:7240710
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cluap1 clusterin associated protein 1 JBrowse link NW_004955442 13,843,952 13,890,082 RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link NW_004955425 4,023,001 4,039,980 RGD:9068941
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:9068941
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link NW_004955422 19,471,552 19,479,121 RGD:9068941
G Slc2a10 solute carrier family 2 member 10 JBrowse link NW_004955445 10,708,147 10,722,109 RGD:9068941
RGD:7240710
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link NW_004955441 10,964,588 10,987,771 RGD:9068941
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link NW_004955441 10,928,577 10,961,194 RGD:9068941
G Ift140 intraflagellar transport 140 JBrowse link NW_004955442 15,625,429 15,719,006 RGD:9068941
G Nek1 NIMA related kinase 1 JBrowse link NW_004955403 36,710,248 36,878,901 RGD:9068941
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link NW_004955449 8,242,327 8,306,012 RGD:9068941
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link NW_004955448 10,808,940 10,819,655 RGD:9068941
RGD:7240710
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada2 adenosine deaminase 2 JBrowse link NW_004955454 5,341,822 5,355,383 RGD:9068941
G Atm ATM serine/threonine kinase JBrowse link NW_004955412 10,422,753 10,531,406 RGD:9068941
RGD:7240710
G Hdac4 histone deacetylase 4 JBrowse link NW_004955542 1,629,691 1,886,160 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G LOC102006324 chromosome unknown open reading frame, human C11orf65 JBrowse link NW_004955412 10,533,174 10,567,364 RGD:9068941
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link NW_004955415 15,744,601 15,748,910 RGD:9068941
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 NW_004955467 8,025,231 8,091,406 RGD:9068941
RGD:7240710
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link NW_004955559 1,064,924 1,070,120 RGD:9068941
RGD:7240710
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link NW_004955412 10,422,753 10,531,406 RGD:9068941
G LOC102006324 chromosome unknown open reading frame, human C11orf65 JBrowse link NW_004955412 10,533,174 10,567,364 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine-beta-synthase JBrowse link NW_004955407 38,924,355 38,939,790 RGD:9068941
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link NW_004955408 39,041,028 39,136,867 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004955475 10,687,168 10,710,286 RGD:9068941
G Nr5a1 nuclear receptor subfamily 5 group A member 1 JBrowse link NW_004955419 3,632,248 3,654,367 RGD:9068941
G Slc2a10 solute carrier family 2 member 10 JBrowse link NW_004955445 10,708,147 10,722,109 RGD:9068941
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link NW_004955415 15,744,601 15,748,910 RGD:9068941
RGD:7240710
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link NW_004955487 5,180,241 5,218,298 RGD:9068941
G Apoe apolipoprotein E JBrowse link NW_004955555 1,998,170 2,002,003 RGD:9068941
G Bdnf brain derived neurotrophic factor JBrowse link NW_004955476 6,773,244 6,822,201 RGD:9068941
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:9068941
G Card11 caspase recruitment domain family member 11 JBrowse link NW_004955460 12,368,987 12,487,675 RGD:9068941
G Casp8 caspase 8 JBrowse link NW_004955403 322,082 348,591 RGD:9068941
G Ccdc80 coiled-coil domain containing 80 JBrowse link NW_004955427 12,945,230 12,975,020 RGD:9068941
G Ccl17 C-C motif chemokine ligand 17 JBrowse link NW_004955433 15,052,616 15,054,732 RGD:9068941
G Ccl20 C-C motif chemokine ligand 20 JBrowse link NW_004955453 6,846,625 6,850,007 RGD:9068941
G Ccl22 C-C motif chemokine ligand 22 JBrowse link NW_004955433 15,002,001 15,007,324 RGD:9068941
G Ccl24 C-C motif chemokine ligand 24 JBrowse link NW_004955456 14,582,812 14,588,574 RGD:9068941
G Ccl26 C-C motif chemokine ligand 26 JBrowse link NW_004955456 14,554,583 14,558,967 RGD:9068941
G Ccl27 C-C motif chemokine ligand 27 JBrowse link NW_004955472 1,470,407 1,474,800 RGD:9068941
G Ccl28 C-C motif chemokine ligand 28 JBrowse link NW_004955446 18,902,465 18,925,178 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004955481 10,293,758 10,301,118 RGD:9068941
G Ccr2 C-C motif chemokine receptor 2 JBrowse link NW_004955420 25,641,184 25,664,413 RGD:9068941
G Ccr3 C-C motif chemokine receptor 3 JBrowse link NW_004955420 25,702,917 25,723,269 RGD:9068941
G Cd40 CD40 molecule JBrowse link NW_004955445 11,191,817 11,202,156 RGD:9068941
G Cldn1 claudin 1 JBrowse link NW_004955420 17,798,974 17,815,049 RGD:9068941
G Cldn23 claudin 23 JBrowse link NW_004955463 4,740,476 4,742,283 RGD:9068941
G Ctla4 cytotoxic T-lymphocyte associated protein 4 JBrowse link NW_004955457 11,028,707 11,034,898 RGD:9068941
G Ctse cathepsin E JBrowse link NW_004955406 41,641,412 41,653,261 RGD:9068941
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link NW_004955433 15,023,272 15,034,650 RGD:9068941
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link NW_004955427 24,691,206 24,705,599 RGD:9068941
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link NW_004955433 748,392 750,890 RGD:9068941
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link NW_004955475 11,148,928 11,152,313 RGD:9068941
G Emsy EMSY transcriptional repressor, BRCA2 interacting JBrowse link NW_004955414 15,395,851 15,482,490 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link NW_004955422 1,356,675 1,367,788 RGD:9068941
G Glb1 galactosidase beta 1 JBrowse link NW_004955421 230,957 311,504 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004955422 17,914,228 17,916,918 RGD:9068941
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link NW_004955408 11,047,679 11,070,492 RGD:9068941
G Hnmt histamine N-methyltransferase JBrowse link NW_004955440 5,084,198 5,137,577 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
G Il13ra1 interleukin 13 receptor subunit alpha 1 JBrowse link NW_004955534 1,157,758 1,205,158 RGD:9068941
G Il13ra2 interleukin 13 receptor subunit alpha 2 JBrowse link NW_004955490 708,144 758,195 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il21r interleukin 21 receptor JBrowse link NW_004955493 5,613,704 5,646,692 RGD:9068941
G Il31 interleukin 31 JBrowse link NW_004955482 6,387,289 6,389,361 RGD:9068941
G Il33 interleukin 33 JBrowse link NW_004955434 10,145,449 10,187,595 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004955408 4,058,052 4,065,999 RGD:9068941
G Il4r interleukin 4 receptor JBrowse link NW_004955493 5,546,340 5,580,745 RGD:9068941
G Il5 interleukin 5 JBrowse link NW_004955408 3,937,128 3,951,784 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Mapk8 mitogen-activated protein kinase 8 JBrowse link NW_004955556 1,593,552 1,705,543 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Ms4a2 membrane spanning 4-domains A2 JBrowse link NW_004955511 4,377,894 4,400,797 RGD:9068941
G Nfkbia NFKB inhibitor alpha JBrowse link NW_004955409 25,691,673 25,695,151 RGD:9068941
G Nfkbiz NFKB inhibitor zeta JBrowse link NW_004955427 3,350,174 3,358,609 RGD:9068941
G Ngf nerve growth factor JBrowse link NW_004955435 18,581,889 18,633,330 RGD:9068941
G Ngfr nerve growth factor receptor JBrowse link NW_004955451 12,030,303 12,047,305 RGD:9068941
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link NW_004955545 2,929,704 2,947,579 RGD:9068941
G Ovol1 ovo like transcriptional repressor 1 JBrowse link NW_004955422 19,524,420 19,528,938 RGD:9068941
G Ppara peroxisome proliferator activated receptor alpha JBrowse link NW_004955413 30,306,563 30,366,245 RGD:9068941
G Relb RELB proto-oncogene, NF-kB subunit JBrowse link NW_004955555 2,060,533 2,086,229 RGD:9068941
G Sele selectin E JBrowse link NW_004955462 7,564,437 7,575,297 RGD:9068941
G Selp selectin P JBrowse link NW_004955462 7,658,371 7,692,870 RGD:9068941
G Sharpin SHANK associated RH domain interactor JBrowse link NW_004955454 2,761,725 2,765,929 RGD:9068941
G Slc11a1 solute carrier family 11 member 1 JBrowse link NW_004955453 14,980,562 14,995,118 RGD:9068941
G Stat6 signal transducer and activator of transcription 6 JBrowse link NW_004955458 4,833,417 4,847,956 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tlr2 toll like receptor 2 JBrowse link NW_004955471 8,011,710 8,019,063 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tmem79 transmembrane protein 79 JBrowse link NW_004955545 2,420,594 2,436,485 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tnfaip6 TNF alpha induced protein 6 JBrowse link NW_004955440 16,915,952 16,944,375 RGD:9068941
G Traf3ip2 TRAF3 interacting protein 2 JBrowse link NW_004955411 36,328,152 36,363,614 RGD:9068941
G Trpv3 transient receptor potential cation channel subfamily V member 3 JBrowse link NW_004955467 13,246,099 13,276,741 RGD:9068941
G Tslp thymic stromal lymphopoietin JBrowse link NW_004955418 4,041,529 4,045,534 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004955500 6,745,725 6,798,052 RGD:9068941
G Vnn1 vanin 1 JBrowse link NW_004955436 13,238,307 13,266,800 RGD:9068941
G Znf365 zinc finger protein 365 JBrowse link NW_004955425 15,652,373 15,675,255 RGD:9068941
atopic dermatitis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Socs3 suppressor of cytokine signaling 3 JBrowse link NW_004955506 4,222,455 4,225,563 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 NW_004955441 570,853 607,529 RGD:9068941
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 NW_004955522 4,352,890 4,480,735 RGD:9068941
RGD:7240710
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 JBrowse link NW_004955507 1,892,087 1,946,526 RGD:9068941
G Eln elastin JBrowse link NW_004955456 13,788,992 13,818,836 RGD:9068941
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link NW_004955456 13,788,992 13,818,836 RGD:9068941
RGD:7240710
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
RGD:7240710
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 JBrowse link NW_004955507 1,892,087 1,946,526 RGD:9068941
RGD:7240710
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt3 actin related protein T3 JBrowse link NW_004955420 28,183 30,207 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:7240710
RGD:9068941
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 NW_004955528 531,680 578,003 RGD:7240710
RGD:9068941
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 NW_004955484 9,022,520 9,025,446 RGD:9068941
RGD:7240710
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
RGD:7240710
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004955413 3,982,670 3,996,320 RGD:9068941
RGD:7240710
autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
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 NW_004955457 885,941 1,062,713 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Ebp EBP cholestenol delta-isomerase JBrowse link NW_004955543 92,553 98,370 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G LOC102004294 cytochrome P450 4F22 JBrowse link NW_004955495 7,730,881 7,763,684 RGD:9068941
G Nipal4 NIPA like domain containing 4 JBrowse link NW_004955408 11,635,724 11,648,359 RGD:9068941
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004955498 8,135,897 8,161,775 RGD:9068941
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004955437 4,008,814 4,047,895 RGD:9068941
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 NW_004955457 885,941 1,062,713 RGD:9068941
G Abhd5 abhydrolase domain containing 5 JBrowse link NW_004955420 27,484,500 27,508,360 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004955559 1,942,878 1,968,895 RGD:9068941
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 NW_004955437 4,008,814 4,047,895 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link NW_004955412 31,091,313 31,129,050 RGD:9068941
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link NW_004955495 8,214,512 8,221,124 RGD:9068941
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 NW_004955458 4,538,113 4,551,586 RGD:9068941
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 NW_004955559 1,942,878 1,968,895 RGD:9068941
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 NW_004955467 8,876,186 8,887,980 RGD:9068941
RGD:7240710
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004955559 1,942,878 1,968,895 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
RGD:7240710
G Gucy2d guanylate cyclase 2D, retinal JBrowse link NW_004955467 8,938,057 8,949,684 RGD:9068941
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 NW_004955457 885,941 1,062,713 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link NW_004955457 885,941 1,062,713 RGD:9068941
RGD:7240710
G Cst6 cystatin E/M JBrowse link NW_004955422 19,326,302 19,327,449 RGD:9068941
G Prss8 serine protease 8 JBrowse link NW_004955493 7,970,929 7,976,885 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102004294 cytochrome P450 4F22 JBrowse link NW_004955495 7,730,881 7,763,684 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA like domain containing 4 JBrowse link NW_004955408 11,635,724 11,648,359 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase family member N JBrowse link NW_004955425 4,187,537 4,205,066 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link NW_004955416 27,461,950 27,577,145 RGD:9068941
RGD:7240710
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 JBrowse link NW_004955507 1,892,087 1,946,526 RGD:9068941
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link NW_004955482 5,311,434 5,337,684 RGD:9068941
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link NW_004955422 19,463,090 19,470,605 RGD:9068941
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link NW_004955422 19,471,552 19,479,121 RGD:9068941
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link NW_004955506 1,231,874 1,236,550 RGD:9068941
G Tctn2 tectonic family member 2 JBrowse link NW_004955482 5,344,113 5,362,519 RGD:9068941
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 NW_004955422 19,463,090 19,470,605 RGD:9068941
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
RGD:7240710
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link NW_004955422 19,471,552 19,479,121 RGD:9068941
autosomal recessive cutis laxa type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link NW_004955422 19,463,090 19,470,605 RGD:9068941
RGD:7240710
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link NW_004955422 19,471,552 19,479,121 RGD:9068941
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 NW_004955578 685,960 712,809 RGD:9068941
RGD:7240710
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link NW_004955482 5,311,434 5,337,684 RGD:9068941
RGD:7240710
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link NW_004955506 1,231,874 1,236,550 RGD:9068941
RGD:7240710
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 JBrowse link NW_004955454 5,669,883 5,688,623 RGD:9068941
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 NW_004955427 13,868,683 13,922,028 RGD:9068941
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 NW_004955507 1,892,087 1,946,526 RGD:9068941
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 NW_004955507 1,892,087 1,946,526 RGD:9068941
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 NW_004955506 1,231,874 1,236,550 RGD:9068941
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link NW_004955467 8,673,069 8,700,730 RGD:9068941
G Nhp2 NHP2 ribonucleoprotein JBrowse link NW_004955408 2,090,772 2,094,453 RGD:9068941
G Nop10 NOP10 ribonucleoprotein JBrowse link NW_004955416 272,127 273,068 RGD:9068941
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link NW_004955467 8,640,044 8,660,950 RGD:9068941
G Slc12a6 solute carrier family 12 member 6 JBrowse link NW_004955416 277,215 375,812 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004955467 9,241,391 9,256,716 RGD:9068941
G Wrap53 WD repeat containing antisense to TP53 JBrowse link NW_004955467 9,225,506 9,240,756 RGD:9068941
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link NW_004955408 2,090,772 2,094,453 RGD:9068941
G Nop10 NOP10 ribonucleoprotein JBrowse link NW_004955416 272,127 273,068 RGD:9068941
RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link NW_004955408 2,090,772 2,094,453 RGD:9068941
RGD:7240710
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wrap53 WD repeat containing antisense to TP53 JBrowse link NW_004955467 9,225,506 9,240,756 RGD:9068941
RGD:7240710
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
RGD:7240710
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP ribosylation factor related protein 1 JBrowse link NW_004955528 519,887 529,012 RGD:9068941
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link NW_004955528 531,680 578,003 RGD:9068941
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 RGD:9068941
G Tnfrsf6b TNF receptor superfamily member 6b JBrowse link NW_004955528 529,817 531,577 RGD:9068941
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link NW_004955442 4,255,726 4,421,083 RGD:9068941
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 NW_004955484 9,022,520 9,025,446 RGD:9068941
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein beta 2 JBrowse link NW_004955497 987,213 989,477 RGD:9068941
RGD:7240710
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein alpha 1 JBrowse link NW_004955436 3,612,533 3,618,095 RGD:9068941
Behcet's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1 ATP binding cassette subfamily B member 1 JBrowse link NW_004955432 4,911,774 5,085,349 RGD:9068941
G Ada2 adenosine deaminase 2 JBrowse link NW_004955454 5,341,822 5,355,383 RGD:9068941
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004955420 20,911,181 20,922,992 RGD:9068941
G Apoa1 apolipoprotein A1 JBrowse link NW_004955412 18,170,331 18,172,298 RGD:9068941
G Apob apolipoprotein B JBrowse link NW_004955469 3,437,422 3,478,408 RGD:9068941
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cfb complement factor B JBrowse link NW_004955437 461,235 466,908 RGD:9068941
G Cpb2 carboxypeptidase B2 JBrowse link NW_004955518 3,740,348 3,803,540 RGD:9068941
G Ctla4 cytotoxic T-lymphocyte associated protein 4 JBrowse link NW_004955457 11,028,707 11,034,898 RGD:9068941
G Cxcl8 C-X-C motif chemokine ligand 8 JBrowse link NW_004955474 247,326 250,355 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004955465 2,287,906 2,314,945 RGD:9068941
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link NW_004955418 15,827,560 15,859,720 RGD:9068941
G F5 coagulation factor V JBrowse link NW_004955462 7,695,004 7,757,832 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004955495 1,561,464 1,573,282 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il21r interleukin 21 receptor JBrowse link NW_004955493 5,613,704 5,646,692 RGD:9068941
G Il23r interleukin 23 receptor JBrowse link NW_004955423 23,841,342 23,885,191 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004955408 4,058,052 4,065,999 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Itga2 integrin subunit alpha 2 JBrowse link NW_004955446 14,309,516 14,421,991 RGD:9068941
G Itgal integrin subunit alpha L JBrowse link NW_004955493 7,397,813 7,435,420 RGD:9068941
G Itgb2 integrin subunit beta 2 JBrowse link NW_004955407 41,779,849 41,805,637 RGD:9068941
G LOC102010850 cytochrome P450 1A1 JBrowse link NW_004955450 3,183,958 3,189,488 RGD:9068941
G LOC102023521 HLA class II histocompatibility antigen, DM beta chain JBrowse link NW_004955437 1,544,906 1,551,412 RGD:9068941
G LOC102023843 HLA class II histocompatibility antigen, DM alpha chain JBrowse link NW_004955437 1,558,806 1,562,294 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mefv MEFV innate immuity regulator, pyrin JBrowse link NW_004955442 14,068,436 14,093,889 RGD:9068941
G Mmp2 matrix metallopeptidase 2 JBrowse link NW_004955433 13,024,844 13,050,041 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Nod2 nucleotide binding oligomerization domain containing 2 JBrowse link NW_004955433 8,746,213 8,780,119 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Pon1 paraoxonase 1 JBrowse link NW_004955432 11,893,473 11,923,035 RGD:9068941
G Proz protein Z, vitamin K dependent plasma glycoprotein JBrowse link NW_004955404 647,217 657,256 RGD:9068941
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 JBrowse link NW_004955450 1,876,553 1,908,269 RGD:9068941
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 JBrowse link NW_004955435 17,082,762 17,139,067 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Slc11a1 solute carrier family 11 member 1 JBrowse link NW_004955453 14,980,562 14,995,118 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004955451 16,320,326 16,348,505 RGD:9068941
G Stat4 signal transducer and activator of transcription 4 JBrowse link NW_004955403 8,061,471 8,144,252 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tlr2 toll like receptor 2 JBrowse link NW_004955471 8,011,710 8,019,063 RGD:9068941
G Tlr3 toll like receptor 3 JBrowse link NW_004955403 22,977,882 23,001,392 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004955413 3,982,670 3,996,320 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004955500 6,745,725 6,798,052 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
G Vim vimentin JBrowse link NW_004955429 10,708,852 10,716,743 RGD:9068941
G Vwf von Willebrand factor JBrowse link NW_004955413 3,672,470 3,825,588 RGD:9068941
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 NW_004955437 17,002,269 17,037,750 RGD:9068941
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
RGD:7240710
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link NW_004955416 7,391,281 7,393,137 RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
G Znf469 zinc finger protein 469 JBrowse link NW_004955541 2,404,549 2,438,183 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
G Znf469 zinc finger protein 469 JBrowse link NW_004955541 2,404,549 2,438,183 RGD:9068941
RGD:7240710
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
RGD:7240710
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
G Krt2 keratin 2 JBrowse link NW_004955547 3,027,767 3,035,244 RGD:9068941
RGD:7240710
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link NW_004955458 4,861,431 4,941,939 RGD:9068941
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link NW_004955456 13,788,992 13,818,836 RGD:9068941
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link NW_004955494 2,567,238 2,712,708 RGD:9068941
RGD:7240710
G Hras HRas proto-oncogene, GTPase JBrowse link NW_004955476 11,508,446 11,510,333 RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link NW_004955450 9,181,851 9,205,277 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004955495 4,695,239 4,718,380 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:9068941
G Snapc5 small nuclear RNA activating complex polypeptide 5 JBrowse link NW_004955450 9,176,462 9,197,592 RGD:9068941
G Tipin TIMELESS interacting protein JBrowse link NW_004955450 9,259,838 9,279,479 RGD:9068941
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
RGD:7240710
CARDIOFACIOCUTANEOUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link NW_004955450 9,181,851 9,205,277 RGD:9068941
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 NW_004955495 4,695,239 4,718,380 RGD:9068941
RGD:7240710
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap29 synaptosome associated protein 29 JBrowse link NW_004955442 19,419,381 19,446,782 RGD:9068941
RGD:7240710
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004955498 8,135,897 8,161,775 RGD:9068941
RGD:7240710
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link NW_004955481 7,111,760 7,122,800 RGD:9068941
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family pyrin domain containing 3 JBrowse link NW_004955581 597,952 616,903 RGD:9068941
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 NW_004955412 20,683,007 20,745,069 RGD:9068941
RGD:7240710
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb6 gap junction protein beta 6 JBrowse link NW_004955497 1,018,610 1,027,593 RGD:9068941
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 NW_004955444 7,876,284 7,922,010 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link NW_004955436 12,416,147 12,477,214 RGD:9068941
RGD:7240710
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
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 NW_004955402 18,668,717 18,704,329 RGD:9068941
RGD:7240710
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkd1 protein kinase D1 JBrowse link NW_004955409 30,554,095 30,860,588 RGD:9068941
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 NW_004955555 2,355,005 2,369,599 RGD:9068941
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link NW_004955427 152,397 163,570 RGD:9068941
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spag17 sperm associated antigen 17 JBrowse link NW_004955435 21,063,005 21,281,997 RGD:9068941
G Wdr35 WD repeat domain 35 JBrowse link NW_004955469 2,484,972 2,546,562 RGD:9068941
RGD:7240710
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link NW_004955438 58,503 144,675 RGD:9068941
RGD:7240710
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link NW_004955443 8,053,847 8,122,918 RGD:9068941
RGD:7240710
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Mme membrane metalloendopeptidase JBrowse link NW_004955448 6,193,113 6,311,666 RGD:9068941
G Nlrc4 NLR family CARD domain containing 4 JBrowse link NW_004955441 570,853 607,529 RGD:9068941
G Nlrp3 NLR family pyrin domain containing 3 JBrowse link NW_004955581 597,952 616,903 RGD:9068941
G Plcg2 phospholipase C gamma 2 JBrowse link NW_004955522 4,352,890 4,480,735 RGD:9068941
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link NW_004955475 2,362,368 2,382,680 RGD:9068941
G Fech ferrochelatase JBrowse link NW_004955402 41,902,868 41,938,099 RGD:9068941
G Uros uroporphyrinogen III synthase JBrowse link NW_004955477 3,673,583 3,707,761 RGD:9068941
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 NW_004955442 865,292 921,739 RGD:9068941
G Atp7a ATPase copper transporting alpha JBrowse link NW_004955557 1,355,471 1,515,725 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Efemp2 EGF containing fibulin extracellular matrix protein 2 JBrowse link NW_004955422 19,463,090 19,470,605 RGD:9068941
G Eln elastin JBrowse link NW_004955456 13,788,992 13,818,836 RGD:9068941
G Fbln5 fibulin 5 JBrowse link NW_004955438 14,073,927 14,144,644 RGD:9068941
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link NW_004955578 685,960 712,809 RGD:9068941
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link NW_004955506 1,231,874 1,236,550 RGD:9068941
G Slc39a13 solute carrier family 39 member 13 JBrowse link NW_004955422 845,076 852,772 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Krt10 keratin 10 JBrowse link NW_004955451 15,269,861 15,274,351 RGD:9068941
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 NW_004955482 7,233,336 7,295,754 RGD:9068941
Darier Disease, Segmental term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link NW_004955482 7,233,336 7,295,754 RGD:9068941
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 NW_004955556 745,175 812,215 RGD:9068941
RGD:7240710
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
RGD:7240710
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link NW_004955451 15,890,101 15,896,282 RGD:9068941
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp5 aquaporin 5 JBrowse link NW_004955547 558,296 562,455 RGD:9068941
RGD:7240710
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
RGD:7240710
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link NW_004955450 15,853,372 15,927,966 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
RGD:7240710
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link NW_004955453 14,215,104 14,222,338 RGD:9068941
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link NW_004955453 14,215,104 14,222,338 RGD:9068941
RGD:7240710
dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link NW_004955467 8,673,069 8,700,730 RGD:9068941
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link NW_004955594 846,997 857,255 RGD:9068941
G Gar1 GAR1 ribonucleoprotein JBrowse link NW_004955496 476,061 483,030 RGD:9068941
G Nhp2 NHP2 ribonucleoprotein JBrowse link NW_004955408 2,090,772 2,094,453 RGD:9068941
G Parn poly(A)-specific ribonuclease JBrowse link NW_004955442 4,255,726 4,421,083 RGD:9068941
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link NW_004955467 8,640,044 8,660,950 RGD:9068941
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link NW_004955528 531,680 578,003 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004955467 9,241,391 9,256,716 RGD:9068941
ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase RNA specific JBrowse link NW_004955545 1,078,319 1,106,938 RGD:9068941
G Bms1 BMS1 ribosome biogenesis factor JBrowse link NW_004955546 1,054,208 1,089,048 RGD:9068941
RGD:7240710
G Eda ectodysplasin A JBrowse link NW_004955475 9,177,911 9,592,150 RGD:9068941
G Edar ectodysplasin A receptor JBrowse link NW_004955470 12,310,680 12,362,555 RGD:9068941
G Edaradd EDAR associated death domain JBrowse link NW_004955492 3,709,819 3,777,506 RGD:9068941
G Gjb6 gap junction protein beta 6 JBrowse link NW_004955497 1,018,610 1,027,593 RGD:9068941
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
G Krt17 keratin 17 JBrowse link NW_004955451 15,940,137 15,944,392 RGD:9068941
G Nectin1 nectin cell adhesion molecule 1 JBrowse link NW_004955412 20,683,007 20,745,069 RGD:9068941
G Pkp1 plakophilin 1 JBrowse link NW_004955406 37,420,019 37,465,588 RGD:9068941
G Ranbp2 RAN binding protein 2 JBrowse link NW_004955470 12,180,426 12,247,737 RGD:9068941
G Tp63 tumor protein p63 JBrowse link NW_004955420 18,178,639 18,384,786 RGD:9068941
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin A JBrowse link NW_004955475 9,177,911 9,592,150 RGD:9068941
RGD:7240710
G Eda2r ectodysplasin A2 receptor JBrowse link NW_004955475 6,080,153 6,143,339 RGD:9068941
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 NW_004955492 3,709,819 3,777,506 RGD:9068941
RGD:7240710
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR associated death domain JBrowse link NW_004955492 3,709,819 3,777,506 RGD:9068941
RGD:7240710
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdf1 keratinocyte differentiation factor 1 JBrowse link NW_004955452 6,280,391 6,288,985 RGD:9068941
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 NW_004955455 3,308,740 3,368,690 RGD:9068941
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 NW_004955407 41,513,538 41,566,931 RGD:9068941
RGD:7240710
Ectodermal Dysplasia 3, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin A receptor JBrowse link NW_004955470 12,310,680 12,362,555 RGD:9068941
RGD:7240710
G Edaradd EDAR associated death domain JBrowse link NW_004955492 3,709,819 3,777,506 RGD:9068941
G Ranbp2 RAN binding protein 2 JBrowse link NW_004955470 12,180,426 12,247,737 RGD:9068941
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link NW_004955458 1,197,295 1,205,098 RGD:9068941
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxc13 homeobox C13 JBrowse link NW_004955458 1,197,295 1,205,098 RGD:9068941
RGD:7240710
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfkbia NFKB inhibitor alpha JBrowse link NW_004955409 25,691,673 25,695,151 RGD:9068941
RGD:7240710
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh3 cadherin 3 JBrowse link NW_004955484 7,937,847 7,985,418 RGD:9068941
RGD:7240710
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
G Pkp1 plakophilin 1 JBrowse link NW_004955406 37,420,019 37,465,588 RGD:9068941
RGD:7240710
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin4 nectin cell adhesion molecule 4 JBrowse link NW_004955468 12,841,369 12,858,331 RGD:9068941
RGD:7240710
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhl2 grainyhead like transcription factor 2 JBrowse link NW_004955417 26,401,337 26,533,297 RGD:9068941
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 NW_004955420 18,178,639 18,384,786 RGD:9068941
RGD:7240710
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link NW_004955420 18,178,639 18,384,786 RGD:9068941
Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link NW_004955408 1,157,826 1,367,146 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Dcn decorin JBrowse link NW_004955405 28,335,493 28,371,912 RGD:9068941
G Lox lysyl oxidase JBrowse link NW_004955521 178,290 193,926 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004955486 1,967,771 1,990,561 RGD:9068941
G Slc39a13 solute carrier family 39 member 13 JBrowse link NW_004955422 845,076 852,772 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tnxb tenascin XB JBrowse link NW_004955437 516,713 561,188 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnxb tenascin XB JBrowse link NW_004955437 516,713 561,188 RGD:9068941
RGD:7240710
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 beta-1,3-galactosyltransferase 6 JBrowse link NW_004955486 9,553,765 9,555,675 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
RGD:7240710
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link NW_004955403 9,720,831 9,758,019 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
G Slc40a1 solute carrier family 40 member 1 JBrowse link NW_004955403 9,253,734 9,271,732 RGD:9068941
G Wdr75 WD repeat domain 75 JBrowse link NW_004955403 9,352,615 9,383,206 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link NW_004955486 1,937,873 1,962,577 RGD:9068941
G Mybpc3 myosin binding protein C, cardiac JBrowse link NW_004955422 888,529 902,074 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004955486 1,967,771 1,990,561 RGD:9068941
RGD:7240710
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004955416 15,773,005 15,788,736 RGD:9068941
G Tnnt2 troponin T2, cardiac type JBrowse link NW_004955406 37,491,462 37,507,360 RGD:9068941
G Trpv4 transient receptor potential cation channel subfamily V member 4 JBrowse link NW_004955455 8,744,865 8,781,644 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link NW_004955413 4,652,156 4,660,897 RGD:9068941
RGD:7240710
G C1s complement C1s JBrowse link NW_004955413 4,620,450 4,630,860 RGD:9068941
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 NW_004955432 11,127,961 11,164,145 RGD:9068941
RGD:7240710
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aebp1 AE binding protein 1 JBrowse link NW_004955456 7,860,191 7,868,526 RGD:9068941
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 NW_004955410 31,313,637 31,325,544 RGD:9068941
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst14 carbohydrate sulfotransferase 14 JBrowse link NW_004955416 7,391,281 7,393,137 RGD:9068941
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link NW_004955526 348,673 393,328 RGD:9068941
RGD:7240710
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1r complement C1r JBrowse link NW_004955413 4,652,156 4,660,897 RGD:9068941
G C1s complement C1s JBrowse link NW_004955413 4,620,450 4,630,860 RGD:9068941
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 NW_004955486 9,553,765 9,555,675 RGD:9068941
RGD:7240710
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Col5a1 collagen type V alpha 1 chain JBrowse link NW_004955513 3,533,612 3,660,605 RGD:9068941
G Col5a2 collagen type V alpha 2 chain JBrowse link NW_004955403 9,562,401 9,703,828 RGD:9068941
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 NW_004955408 1,157,826 1,367,146 RGD:9068941
RGD:7240710
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link NW_004955420 9,689,076 9,727,806 RGD:9068941
G Evc EvC ciliary complex subunit 1 JBrowse link NW_004955514 4,279,603 4,330,897 RGD:9068941
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link NW_004955514 4,332,624 4,430,844 RGD:9068941
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link NW_004955542 2,264,472 2,301,083 RGD:9068941
G Wdr35 WD repeat domain 35 JBrowse link NW_004955469 2,484,972 2,546,562 RGD:9068941
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004955463 14,013,247 14,064,354 RGD:9068941
RGD:7240710
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link NW_004955412 10,604,853 10,674,683 RGD:9068941
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
epidermolysis bullosa dystrophica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
RGD:7240710
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004955456 6,795,560 6,802,147 RGD:9068941
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 NW_004955532 650,913 681,186 RGD:9068941
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
RGD:7240710
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link NW_004955502 3,175,918 3,610,823 RGD:9068941
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
RGD:7240710
G Klhl24 kelch like family member 24 JBrowse link NW_004955420 23,700,030 23,733,021 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link NW_004955502 3,175,918 3,610,823 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link NW_004955502 3,175,918 3,610,823 RGD:9068941
RGD:7240710
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch like family member 24 JBrowse link NW_004955420 23,700,030 23,733,021 RGD:9068941
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 NW_004955532 650,913 681,186 RGD:9068941
RGD:7240710
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
RGD:7240710
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exph5 exophilin 5 JBrowse link NW_004955412 10,604,853 10,674,683 RGD:9068941
RGD:7240710
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G Gjb3 gap junction protein beta 3 JBrowse link NW_004955452 12,892,687 12,896,290 RGD:9068941
G Gjb4 gap junction protein beta 4 JBrowse link NW_004955452 12,871,548 12,874,019 RGD:9068941
G Jup junction plakoglobin JBrowse link NW_004955451 15,993,055 16,004,152 RGD:9068941
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Krt10 keratin 10 JBrowse link NW_004955451 15,269,861 15,274,351 RGD:9068941
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Krt9 keratin 9 JBrowse link NW_004955451 15,890,101 15,896,282 RGD:9068941
RGD:7240710
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt9 keratin 9 JBrowse link NW_004955451 15,890,101 15,896,282 RGD:9068941
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein alpha 1 JBrowse link NW_004955436 3,612,533 3,618,095 RGD:9068941
G Gjb3 gap junction protein beta 3 JBrowse link NW_004955452 12,892,687 12,896,290 RGD:9068941
RGD:7240710
G Gjb4 gap junction protein beta 4 JBrowse link NW_004955452 12,871,548 12,874,019 RGD:9068941
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb4 gap junction protein beta 4 JBrowse link NW_004955452 12,871,548 12,874,019 RGD:9068941
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 NW_004955436 3,612,533 3,618,095 RGD:9068941
RGD:7240710
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdsr 3-ketodihydrosphingosine reductase JBrowse link NW_004955402 47,092,779 47,130,131 RGD:9068941
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 NW_004955452 12,892,687 12,896,290 RGD:9068941
Erythrokeratodermia with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link NW_004955502 7,764,451 7,774,503 RGD:9068941
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) JBrowse link NW_004955474 12,365,903 12,408,715 RGD:9068941
G Alas2 5'-aminolevulinate synthase 2 JBrowse link NW_004955475 2,362,368 2,382,680 RGD:9068941
G Areg amphiregulin JBrowse link NW_004955474 680,212 689,021 RGD:9068941
G Btc betacellulin JBrowse link NW_004955474 895,573 946,152 RGD:9068941
G Ereg epiregulin JBrowse link NW_004955474 612,440 627,606 RGD:9068941
G Fech ferrochelatase JBrowse link NW_004955402 41,902,868 41,938,099 RGD:9068941
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 NW_004955475 2,362,368 2,382,680 RGD:9068941
RGD:7240710
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csta cystatin A JBrowse link NW_004955427 21,617,099 21,630,712 RGD:9068941
RGD:7240710
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link NW_004955542 1,959,765 2,000,665 RGD:9068941
RGD:7240710
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfaip3 TNF alpha induced protein 3 JBrowse link NW_004955436 21,566,591 21,581,551 RGD:9068941
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 NW_004955604 317,987 331,051 RGD:9068941
G Nlrp3 NLR family pyrin domain containing 3 JBrowse link NW_004955581 597,952 616,903 RGD:9068941
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 NW_004955581 597,952 616,903 RGD:9068941
RGD:7240710
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family pyrin domain containing 12 JBrowse link NW_004955604 317,987 331,051 RGD:9068941
RGD:7240710
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C gamma 2 JBrowse link NW_004955522 4,352,890 4,480,735 RGD:9068941
RGD:7240710
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family CARD domain containing 4 JBrowse link NW_004955441 570,853 607,529 RGD:9068941
RGD:7240710
familial Mediterranean fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004955420 20,911,181 20,922,992 RGD:9068941
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link NW_004955451 2,705,834 2,820,610 RGD:9068941
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004955415 1,307,553 1,535,435 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Jag1 jagged canonical Notch ligand 1 JBrowse link NW_004955415 20,490,414 20,526,068 RGD:9068941
G LOC102021597 alpha-1-antiproteinase S-like JBrowse link NW_004955438 17,920,200 17,929,105 RGD:9068941
G Mefv MEFV innate immuity regulator, pyrin JBrowse link NW_004955442 14,068,436 14,093,889 RGD:9068941
RGD:7240710
G Nod2 nucleotide binding oligomerization domain containing 2 JBrowse link NW_004955433 8,746,213 8,780,119 RGD:9068941
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link NW_004955411 5,988,100 6,434,369 RGD:9068941
G Pomc proopiomelanocortin JBrowse link NW_004955469 7,217,233 7,220,401 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004955413 4,000,083 4,023,596 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 RGD:9068941
G Thbd thrombomodulin JBrowse link NW_004955415 30,222,830 30,226,406 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004955413 3,982,670 3,996,320 RGD:9068941
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mefv MEFV innate immuity regulator, pyrin JBrowse link NW_004955442 14,068,436 14,093,889 RGD:9068941
RGD:7240710
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmbs hydroxymethylbilane synthase JBrowse link NW_004955412 20,192,519 20,202,635 RGD:9068941
G Porcn porcupine O-acyltransferase JBrowse link NW_004955543 75,870 91,575 RGD:9068941
RGD:7240710
Generalized Elastolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a13 solute carrier family 39 member 13 JBrowse link NW_004955422 845,076 852,772 RGD:9068941
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gorab golgin, RAB6 interacting JBrowse link NW_004955462 6,807,618 6,824,296 RGD:9068941
RGD:7240710
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 RGD:9068941
RGD:7240710
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link NW_004955542 2,769,709 2,807,768 RGD:9068941
RGD:7240710
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 RGD:9068941
Hailey-Hailey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 JBrowse link NW_004955501 7,382,657 7,519,789 RGD:9068941
RGD:7240710
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link NW_004955427 152,397 163,570 RGD:9068941
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn10 claudin 10 JBrowse link NW_004955404 14,483,217 14,597,912 RGD:9068941
RGD:7240710
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link NW_004955419 14,093,010 14,104,376 RGD:9068941
G Cpox coproporphyrinogen oxidase JBrowse link NW_004955427 152,397 163,570 RGD:9068941
G Fech ferrochelatase JBrowse link NW_004955402 41,902,868 41,938,099 RGD:9068941
G Hmbs hydroxymethylbilane synthase JBrowse link NW_004955412 20,192,519 20,202,635 RGD:9068941
G Ppox protoporphyrinogen oxidase JBrowse link NW_004955468 12,930,387 12,934,437 RGD:9068941
G Urod uroporphyrinogen decarboxylase JBrowse link NW_004955464 13,226,271 13,228,908 RGD:9068941
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link NW_004955464 13,226,271 13,228,908 RGD:9068941
Hereditary Autoinflammatory Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family CARD domain containing 4 JBrowse link NW_004955441 570,853 607,529 RGD:9068941
G Tnfaip3 TNF alpha induced protein 3 JBrowse link NW_004955436 21,566,591 21,581,551 RGD:9068941
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link NW_004955427 152,397 163,570 RGD:9068941
RGD:7240710
hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt4 keratin 4 JBrowse link NW_004955458 108,803 115,755 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link NW_004955425 22,792,616 23,051,509 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004955514 3,698,644 3,699,227 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004955465 5,910,095 5,943,996 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004955481 10,293,758 10,301,118 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004955440 3,456,165 3,460,024 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004955524 3,010,997 3,018,309 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004955414 5,158,860 5,214,108 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004955428 5,238,460 5,309,085 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004955482 6,333,282 6,352,369 RGD:9068941
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor related protein complex 3 subunit beta 1 JBrowse link NW_004955425 22,792,616 23,051,509 RGD:9068941
RGD:7240710
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
RGD:7240710
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link NW_004955435 17,173,975 17,179,986 RGD:9068941
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link NW_004955594 846,997 857,255 RGD:9068941
G Tert telomerase reverse transcriptase JBrowse link NW_004955504 649,248 669,796 RGD:9068941
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eda ectodysplasin A JBrowse link NW_004955475 9,177,911 9,592,150 RGD:9068941
G Eda2r ectodysplasin A2 receptor JBrowse link NW_004955475 6,080,153 6,143,339 RGD:9068941
G Edar ectodysplasin A receptor JBrowse link NW_004955470 12,310,680 12,362,555 RGD:9068941
G Edaradd EDAR associated death domain JBrowse link NW_004955492 3,709,819 3,777,506 RGD:9068941
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
G Ranbp2 RAN binding protein 2 JBrowse link NW_004955470 12,180,426 12,247,737 RGD:9068941
G Traf6 TNF receptor associated factor 6 JBrowse link NW_004955422 9,925,765 9,950,354 RGD:9068941
G Wnt10a Wnt family member 10A JBrowse link NW_004955453 14,528,373 14,540,801 RGD:9068941
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edar ectodysplasin A receptor JBrowse link NW_004955470 12,310,680 12,362,555 RGD:9068941
RGD:7240710
G Edaradd EDAR associated death domain JBrowse link NW_004955492 3,709,819 3,777,506 RGD:9068941
G Ranbp2 RAN binding protein 2 JBrowse link NW_004955470 12,180,426 12,247,737 RGD:9068941
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
RGD:7240710
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link NW_004955580 1,053,823 1,069,802 RGD:9068941
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004955520 401,733 418,279 RGD:9068941
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga3 integrin subunit alpha 3 JBrowse link NW_004955451 11,563,120 11,590,119 RGD:9068941
RGD:7240710
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link NW_004955466 11,979,482 11,997,952 RGD:9068941
G Psmb8 proteasome subunit beta 8 JBrowse link NW_004955437 1,500,477 1,504,072 RGD:9068941
RGD:7240710
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link NW_004955416 9,571,628 9,731,551 RGD:9068941
RGD:7240710
junctional epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link NW_004955485 6,568,178 6,616,972 RGD:9068941
G Itga6 integrin subunit alpha 6 JBrowse link NW_004955449 2,590,982 2,665,887 RGD:9068941
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
G Lama3 laminin subunit alpha 3 JBrowse link NW_004955402 11,980,980 12,362,143 RGD:9068941
G Lamb3 laminin subunit beta 3 JBrowse link NW_004955489 2,547,611 2,603,079 RGD:9068941
G Lamc2 laminin subunit gamma 2 JBrowse link NW_004955406 22,020,330 22,074,271 RGD:9068941
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga6 integrin subunit alpha 6 JBrowse link NW_004955449 2,590,982 2,665,887 RGD:9068941
G Lama3 laminin subunit alpha 3 JBrowse link NW_004955402 11,980,980 12,362,143 RGD:9068941
RGD:7240710
G Lamb3 laminin subunit beta 3 JBrowse link NW_004955489 2,547,611 2,603,079 RGD:9068941
RGD:7240710
G Lamc2 laminin subunit gamma 2 JBrowse link NW_004955406 22,020,330 22,074,271 RGD:9068941
RGD:7240710
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link NW_004955485 6,568,178 6,616,972 RGD:9068941
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
RGD:7240710
G Lama3 laminin subunit alpha 3 JBrowse link NW_004955402 11,980,980 12,362,143 RGD:9068941
RGD:7240710
G Lamb3 laminin subunit beta 3 JBrowse link NW_004955489 2,547,611 2,603,079 RGD:9068941
RGD:7240710
G Lamc2 laminin subunit gamma 2 JBrowse link NW_004955406 22,020,330 22,074,271 RGD:9068941
RGD:7240710
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link NW_004955506 6,489,799 6,493,354 RGD:9068941
G Itga6 integrin subunit alpha 6 JBrowse link NW_004955449 2,590,982 2,665,887 RGD:9068941
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link NW_004955506 6,493,466 6,526,778 RGD:9068941
RGD:7240710
G Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:9068941
Keratolytic Winter Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsb cathepsin B JBrowse link NW_004955403 53,086,236 53,100,217 RGD:9068941
RGD:7240710
keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anxa1 annexin A1 JBrowse link NW_004955512 5,686,508 5,703,645 RGD:9068941
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link NW_004955482 7,233,336 7,295,754 RGD:9068941
RGD:7240710
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane bound transcription factor peptidase, site 2 JBrowse link NW_004955509 2,185,054 2,222,497 RGD:9068941
RGD:7240710
G Sat1 spermidine/spermine N1-acetyltransferase 1 JBrowse link NW_004955509 4,198,876 4,202,103 RGD:9068941
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomp proteasome maturation protein JBrowse link NW_004955497 7,978,434 7,996,982 RGD:9068941
RGD:7240710
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg1 desmoglein 1 JBrowse link NW_004955402 18,668,717 18,704,329 RGD:9068941
RGD:7240710
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
RGD:7240710
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
Keratosis Palmoplantaris with Esophageal Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link NW_004955506 5,805,415 5,828,286 RGD:9068941
RGD:7240710
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link NW_004955414 5,062,355 5,092,631 RGD:9068941
RGD:7240710
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp1 LDL receptor related protein 1 JBrowse link NW_004955458 4,861,431 4,941,939 RGD:9068941
RGD:7240710
Kindler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fermt1 fermitin family member 1 JBrowse link NW_004955415 16,447,921 16,483,221 RGD:9068941
RGD:7240710
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link NW_004955557 1,341,934 1,348,610 RGD:9068941
RGD:7240710
lipoid proteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecm1 extracellular matrix protein 1 JBrowse link NW_004955413 293,295 299,293 RGD:9068941
RGD:7240710
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rin2 Ras and Rab interactor 2 JBrowse link NW_004955415 27,953,670 28,130,122 RGD:9068941
RGD:7240710
mal de Meleda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slurp1 secreted LY6/PLAUR domain containing 1 JBrowse link NW_004955454 1,440,534 1,449,123 RGD:9068941
MEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 JBrowse link NW_004955456 16,127,877 16,134,039 RGD:9068941
RGD:7240710
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmab metabolism of cobalamin associated B JBrowse link NW_004955455 8,954,099 8,985,170 RGD:9068941
G Mvk mevalonate kinase JBrowse link NW_004955455 8,933,250 8,953,883 RGD:9068941
RGD:7240710
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
Michelin Tire Baby Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb tubulin beta class I JBrowse link NW_004955583 704,811 715,742 RGD:9068941
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Nlrp3 NLR family pyrin domain containing 3 JBrowse link NW_004955581 597,952 616,903 RGD:9068941
RGD:7240710
Muir-Torre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhit fragile histidine triad JBrowse link NW_004955430 221,518 508,094 RGD:9068941
G Mlh1 mutL homolog 1 JBrowse link NW_004955421 3,890,291 3,936,892 RGD:9068941
RGD:7240710
G Msh2 mutS homolog 2 JBrowse link NW_004955441 14,188,315 14,247,608 RGD:9068941
RGD:7240710
Naxos Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link NW_004955451 15,993,055 16,004,152 RGD:9068941
RGD:7240710
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd151 CD151 molecule (Raph blood group) JBrowse link NW_004955476 11,294,359 11,298,990 RGD:9068941
RGD:7240710
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link NW_004955402 18,724,959 18,754,232 RGD:9068941
G Gba glucosylceramidase beta JBrowse link NW_004955545 1,682,097 1,689,373 RGD:9068941
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link NW_004955415 6,118,616 6,186,632 RGD:9068941
RGD:7240710
G St14 suppression of tumorigenicity 14 JBrowse link NW_004955412 31,091,313 31,129,050 RGD:9068941
neurilemmomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Derl3 derlin 3 JBrowse link NW_004955455 8,415,868 8,418,753 RGD:9068941
G Lztr1 leucine zipper like transcription regulator 1 JBrowse link NW_004955442 19,315,427 19,333,361 RGD:9068941
RGD:7240710
G Nf2 neurofibromin 2 JBrowse link NW_004955455 3,862,804 3,950,669 RGD:9068941
RGD:7240710
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link NW_004955455 8,420,263 8,457,105 RGD:9068941
RGD:7240710
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link NW_004955435 18,001,517 18,009,105 RGD:9068941
RGD:7240710
Neurocutaneous Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family member A1 JBrowse link NW_004955507 1,892,087 1,946,526 RGD:9068941
neurofibromatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Nf2 neurofibromin 2 JBrowse link NW_004955455 3,862,804 3,950,669 RGD:9068941
Neurofibromatosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Evi2a ecotropic viral integration site 2A JBrowse link NW_004955481 6,346,024 6,350,216 RGD:9068941
G Evi2b ecotropic viral integration site 2B JBrowse link NW_004955481 6,332,220 6,342,374 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
RGD:7240710
G Omg oligodendrocyte myelin glycoprotein JBrowse link NW_004955481 6,321,602 6,324,097 RGD:9068941
G Spred1 sprouty related EVH1 domain containing 1 JBrowse link NW_004955416 5,288,779 5,376,861 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
Neurofibromatosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf2 neurofibromin 2 JBrowse link NW_004955455 3,862,804 3,950,669 RGD:9068941
RGD:7240710
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
RGD:7240710
Neurofibromatosis-Noonan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
RGD:7240710
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link NW_004955420 27,484,500 27,508,360 RGD:9068941
RGD:7240710
G Ano10 anoctamin 10 JBrowse link NW_004955420 27,572,561 27,682,099 RGD:9068941
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla2 patatin like phospholipase domain containing 2 JBrowse link NW_004955476 11,304,660 11,309,755 RGD:9068941
RGD:7240710
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Rhbdf2 rhomboid 5 homolog 2 JBrowse link NW_004955506 5,805,415 5,828,286 RGD:9068941
Nonepidermolytic Palmoplantar Keratoderma, Focal 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv3 transient receptor potential cation channel subfamily V member 3 JBrowse link NW_004955467 13,246,099 13,276,741 RGD:9068941
RGD:7240710
nonphotosensitive trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G