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ONTOLOGY REPORT - ANNOTATIONS


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


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Genetic Skin Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT13 keratin 13 JBrowse link 17 16,028,747 16,033,434 RGD:9068941
G KRT4 keratin 4 JBrowse link 12 36,723,775 36,731,901 RGD:9068941
Absence of Fingerprints term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 4 97,240,372 97,324,366 RGD:7240710
RGD:9068941
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 123,324,166 123,450,236 RGD:9068941
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 38,121,238 38,130,950 RGD:9068941
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,458,860 11,521,029 RGD:9068941
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 70,277,052 70,317,471 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 136,544,639 136,595,511 RGD:9068941
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 25,996,223 26,107,683 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 3 123,324,166 123,450,236 RGD:7240710
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,458,860 11,521,029 RGD:7240710
RGD:9068941
Adams-Oliver Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 25,996,223 26,107,683 RGD:7240710
RGD:9068941
Adams-Oliver Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 70,277,052 70,317,471 RGD:7240710
RGD:9068941
Adams-Oliver Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NOTCH1 notch receptor 1 JBrowse link 9 136,544,639 136,595,511 RGD:7240710
RGD:9068941
Adams-Oliver Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 38,121,238 38,130,950 RGD:7240710
RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 RGD:7240710
RGD:9068941
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 9 112,859,171 112,873,784 RGD:7240710
RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 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 X 49,356,994 49,385,678 RGD:7240710
RGD:9068941
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,609,597 9,650,069 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 14 22,982,367 23,015,912 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 6 123,348,744 123,360,887 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 X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 RGD:7240710
RGD:9068941
Aplasia Cutis Congenita with Epibulbar Dermoids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLUAP1 clusterin associated protein 1 JBrowse link 16 3,600,370 3,637,622 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:9068941
G NLRP5 NLR family pyrin domain containing 5 JBrowse link 19 61,818,345 61,879,623 RGD:9068941
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 89,164,344 89,182,131 RGD:9068941
G FLNA filamin A RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 64,549,683 64,555,875 RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 44,128,837 44,153,154 RGD:7240710
RGD:9068941
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 2A 44,745,183 44,771,012 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2A 44,706,777 44,760,757 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 16 1,566,309 1,662,833 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 4 173,690,074 173,902,100 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 2B 170,618,800 170,698,903 RGD:9068941
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT80 intraflagellar transport 80 JBrowse link 3 165,327,511 165,469,795 RGD:7240710
RGD:9068941
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA2 adenosine deaminase 2 JBrowse link 22 16,042,295 16,127,103 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:7240710
RGD:9068941
G C11H11orf65 chromosome 11 C11orf65 homolog JBrowse link 11 106,669,823 106,822,761 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 2B 245,123,061 245,428,441 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 11 92,908,403 92,985,966 RGD:9068941
G PCNA proliferating cell nuclear antigen JBrowse link 20 4,927,731 4,939,440 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 17 47,421,204 47,507,282 RGD:7240710
RGD:9068941
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 19 55,790,048 55,796,762 RGD:7240710
RGD:9068941
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATM ATM serine/threonine kinase JBrowse link 11 106,584,228 106,728,457 RGD:9068941
G C11H11orf65 chromosome 11 C11orf65 homolog JBrowse link 11 106,669,823 106,822,761 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CBS cystathionine-beta-synthase JBrowse link 21 42,670,530 42,693,300 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 5 120,628,605 120,713,859 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 70,443,467 70,467,178 RGD:9068941
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 11 92,908,403 92,985,966 RGD:7240710
RGD:9068941
G NR5A1 nuclear receptor subfamily 5 group A member 1 JBrowse link 9 124,122,968 124,149,292 RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 44,128,837 44,153,154 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 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 20 4,927,731 4,939,440 RGD:7240710
RGD:9068941
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL9 actin like 9 JBrowse link 19 8,837,849 8,839,272 RGD:9068941
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 2A 9,641,194 9,708,091 RGD:9068941
G APOE apolipoprotein E JBrowse link 19 50,459,906 50,463,490 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 11 27,520,306 27,589,239 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CARD11 caspase recruitment domain family member 11 JBrowse link 7 3,258,736 3,395,626 RGD:9068941
G CASP8 caspase 8 JBrowse link 2B 206,645,803 206,696,468 RGD:9068941
G CCDC80 coiled-coil domain containing 80 JBrowse link 3 116,678,009 116,714,001 RGD:9068941
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 22,789,235 22,791,272 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 56,810,923 56,822,131 RGD:9068941
G CCL20 C-C motif chemokine ligand 20 JBrowse link 2B 233,862,505 233,866,225 RGD:9068941
G CCL22 C-C motif chemokine ligand 22 JBrowse link 16 56,765,370 56,770,650 RGD:9068941
G CCL24 C-C motif chemokine ligand 24 JBrowse link 7 82,263,310 82,265,480 RGD:9068941
G CCL26 C-C motif chemokine ligand 26 JBrowse link 7 82,221,846 82,242,874 RGD:9068941
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 35,307,155 35,308,381 RGD:9068941
G CCL28 C-C motif chemokine ligand 28 JBrowse link 5 72,012,579 72,046,074 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 21,210,798 21,219,172 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 47,253,878 47,278,630 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 JBrowse link 3 47,377,564 47,383,625 RGD:9068941
G CD40 CD40 molecule JBrowse link 20 43,541,619 43,552,994 RGD:9068941
G CLDN1 claudin 1 JBrowse link 3 195,882,239 195,898,990 RGD:9068941
G CLDN23 claudin 23 RGD:9068941
G CMA1 chymase 1 JBrowse link 14 23,400,677 23,402,819 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2B 209,239,417 209,244,498 RGD:9068941
G CTSE cathepsin E JBrowse link 1 185,900,746 185,915,368 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 16 56,779,065 56,791,760 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 3 39,439,009 39,456,797 RGD:9068941
G CXCL10 C-X-C motif chemokine ligand 10 JBrowse link 4 54,020,204 54,022,606 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 70,933,160 70,935,756 RGD:9068941
G EMSY EMSY transcriptional repressor, BRCA2 interacting JBrowse link 11 74,932,490 75,029,953 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 11 47,227,891 47,249,157 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G FLG filaggrin JBrowse link 1 131,276,648 131,285,336 RGD:9068941
G GLB1 galactosidase beta 1 JBrowse link 3 33,231,208 33,336,804 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G HAVCR1 hepatitis A virus cellular receptor 1 JBrowse link 5 158,413,054 158,442,481 RGD:9068941
G HNMT histamine N-methyltransferase JBrowse link 2B 142,036,321 142,088,315 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL13 interleukin 13 JBrowse link 5 134,235,788 134,240,548 RGD:9068941
G IL13RA1 interleukin 13 receptor subunit alpha 1 JBrowse link X 118,195,828 118,269,449 RGD:9068941
G IL13RA2 interleukin 13 receptor subunit alpha 2 JBrowse link X 114,597,088 114,635,253 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL21R interleukin 21 receptor JBrowse link 16 27,774,864 27,821,769 RGD:9068941
G IL31 interleukin 31 JBrowse link 12 123,140,531 123,142,700 RGD:9068941
G IL33 interleukin 33 JBrowse link 9 6,208,479 6,250,433 RGD:9068941
G IL4 interleukin 4 JBrowse link 5 134,253,039 134,261,581 RGD:9068941
G IL4R interleukin 4 receptor JBrowse link 16 27,686,760 27,737,445 RGD:9068941
G IL5 interleukin 5 JBrowse link 5 134,119,608 134,121,682 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MS4A2 membrane spanning 4-domains A2 JBrowse link 11 58,764,911 58,772,567 RGD:9068941
G NAT2 N-acetyltransferase 2 JBrowse link 8 14,561,281 14,576,669 RGD:9068941
G NFKBIA NFKB inhibitor alpha JBrowse link 14 34,337,307 34,340,225 RGD:9068941
G NFKBIZ NFKB inhibitor zeta JBrowse link 3 105,616,645 105,628,300 RGD:9068941
G NGF nerve growth factor JBrowse link 1 122,272,750 122,325,909 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 17 8,075,301 8,094,966 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 1 136,026,206 136,047,355 RGD:9068941
G OVOL1 ovo like transcriptional repressor 1 JBrowse link 11 64,478,374 64,488,647 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 45,218,364 45,302,970 RGD:9068941
G RELB RELB proto-oncogene, NF-kB subunit JBrowse link 19 50,563,164 50,590,627 RGD:9068941
G S100A8 S100 calcium binding protein A8 JBrowse link 1 132,370,435 132,371,591 RGD:9068941
G SELE selectin E JBrowse link 1 148,927,333 148,938,781 RGD:9068941
G SELP selectin P JBrowse link 1 148,793,677 148,834,701 RGD:9068941
G SHARPIN SHANK associated RH domain interactor JBrowse link 8 143,856,956 143,862,602 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2B 224,238,284 224,252,941 RGD:9068941
G STAT6 signal transducer and activator of transcription 6 JBrowse link 12 32,068,645 32,085,099 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 4 157,848,058 157,870,324 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TMEM79 transmembrane protein 79 JBrowse link 1 135,455,766 135,465,725 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFAIP6 TNF alpha induced protein 6 JBrowse link 2B 155,933,842 155,956,382 RGD:9068941
G TRAF3IP2 TRAF3 interacting protein 2 JBrowse link 6 113,443,540 113,490,402 RGD:9068941
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 17 3,516,209 3,603,787 RGD:9068941
G TSLP thymic stromal lymphopoietin JBrowse link 5 112,242,490 112,249,200 RGD:9068941
G VDR vitamin D receptor JBrowse link 12 41,661,688 41,766,192 RGD:9068941
G VNN1 vanin 1 JBrowse link 6 134,566,110 134,598,784 RGD:9068941
G ZNF365 zinc finger protein 365 JBrowse link 10 61,223,925 61,329,657 RGD:9068941
atopic dermatitis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 131,276,648 131,285,336 RGD:7240710
RGD:9068941
atopic dermatitis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOCS3 suppressor of cytokine signaling 3 JBrowse link 17 77,981,752 77,985,059 RGD:7240710
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP1 NLR family pyrin domain containing 1 JBrowse link 17 5,541,559 5,623,659 RGD:9068941
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 2A 32,954,185 32,996,465 RGD:7240710
RGD:9068941
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCG2 phospholipase C gamma 2 JBrowse link 16 81,812,581 81,984,067 RGD:7240710
RGD:9068941
autosomal dominant cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,723,099 95,774,095 RGD:9068941
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:9068941
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
RGD:7240710
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:9068941
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:7240710
RGD:9068941
autosomal dominant cutis laxa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,723,099 95,774,095 RGD:7240710
RGD:9068941
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTRT3 actin related protein T3 JBrowse link 3 174,834,118 174,837,345 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 23,139,445 23,142,825 RGD:9068941
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 23,139,445 23,142,825 RGD:9068941
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:7240710
RGD:9068941
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 23,139,445 23,142,825 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 20 61,580,222 61,619,172 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 16 67,390,703 67,393,685 RGD:7240710
RGD:9068941
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:7240710
RGD:9068941
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,374,256 6,387,613 RGD:7240710
RGD:9068941
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 2B 194,204,613 194,242,956 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 2B 220,668,359 220,873,566 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,683,531 48,690,829 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G LOC100971205 cytochrome P450 4F22 JBrowse link 19 16,024,339 16,068,490 RGD:9068941
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 159,472,383 159,492,182 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 37,002,466 37,067,190 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 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 2B 220,668,359 220,873,566 RGD:9068941
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 44,640,215 44,669,885 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 54,146,574 54,192,407 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:7240710
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 6 37,002,466 37,067,190 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 11 128,890,780 128,913,559 RGD:7240710
RGD:9068941
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASP14 caspase 14 JBrowse link 19 15,565,543 15,574,402 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 12 32,236,402 32,247,688 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 19 54,146,574 54,192,407 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 17 48,302,172 48,317,109 RGD:7240710
RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 54,146,574 54,192,407 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:7240710
RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,023,248 8,036,065 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 2B 220,668,359 220,873,566 RGD:7240710
RGD:9068941
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 2B 220,668,359 220,873,566 RGD:7240710
RGD:9068941
G CST6 cystatin E/M JBrowse link 11 64,703,367 64,704,865 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 16 31,500,225 31,504,555 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971205 cytochrome P450 4F22 JBrowse link 19 16,024,339 16,068,490 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 159,472,383 159,492,182 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPN lipase family member N JBrowse link 10 88,990,571 89,007,327 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS3 ceramide synthase 3 JBrowse link 15 98,422,256 98,521,775 RGD:7240710
RGD:9068941
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,723,099 95,774,095 RGD:9068941
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 125,522,886 125,569,858 RGD:9068941
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 64,555,877 64,561,950 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 64,549,683 64,555,875 RGD:9068941
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 82,040,824 82,045,691 RGD:9068941
G TCTN2 tectonic family member 2 JBrowse link 12 125,482,294 125,518,903 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 11 64,555,877 64,561,950 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:7240710
RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 64,549,683 64,555,875 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 11 64,555,877 64,561,950 RGD:7240710
RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 11 64,549,683 64,555,875 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 19 46,144,485 46,181,636 RGD:7240710
RGD:9068941
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 125,522,886 125,569,858 RGD:7240710
RGD:9068941
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 82,040,824 82,045,691 RGD:7240710
RGD:9068941
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 JBrowse link 22 16,452,358 16,486,902 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 3 117,808,963 117,872,349 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 10 95,723,099 95,774,095 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 10 95,723,099 95,774,095 RGD:7240710
RGD:9068941
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 82,040,824 82,045,691 RGD:7240710
RGD:9068941
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 48,142,864 48,165,537 RGD:9068941
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 180,566,008 180,570,502 RGD:9068941
G NOP10 NOP10 ribonucleoprotein JBrowse link 15 31,684,833 31,686,305 RGD:9068941
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 17 48,121,601 48,141,728 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 31,575,336 31,681,016 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 17 7,707,220 7,723,410 RGD:9068941
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 180,566,008 180,570,502 RGD:9068941
G NOP10 NOP10 ribonucleoprotein JBrowse link 15 31,684,833 31,686,305 RGD:9068941
RGD:7240710
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 180,566,008 180,570,502 RGD:7240710
RGD:9068941
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 17 7,707,220 7,723,410 RGD:7240710
RGD:9068941
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:7240710
RGD:9068941
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARFRP1 ADP ribosylation factor related protein 1 JBrowse link 20 61,622,386 61,630,949 RGD:9068941
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 20 61,580,222 61,619,172 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
G TNFRSF6B TNF receptor superfamily member 6b JBrowse link 20 61,618,367 61,621,617 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 16 14,787,881 14,977,786 RGD:7240710
RGD:9068941
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACD ACD shelterin complex subunit and telomerase recruitment factor JBrowse link 16 67,390,703 67,393,685 RGD:9068941
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
Basan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 JBrowse link 4 97,240,372 97,324,366 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 6 123,348,744 123,360,887 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 7 93,147,217 93,355,231 RGD:9068941
G ADA2 adenosine deaminase 2 JBrowse link 22 16,042,295 16,127,103 RGD:9068941
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 192,341,471 192,354,885 RGD:9068941
G APOA1 apolipoprotein A1 JBrowse link 11 115,606,136 115,608,335 RGD:9068941
G APOB apolipoprotein B JBrowse link 2A 21,100,349 21,142,545 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR1 C-C motif chemokine receptor 1 JBrowse link 3 47,213,167 47,219,832 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 JBrowse link 3 47,377,564 47,383,625 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CFB complement factor B JBrowse link 6 32,492,982 32,499,396 RGD:9068941
G CPB2 carboxypeptidase B2 RGD:9068941
G CRP C-reactive protein JBrowse link 1 138,858,353 138,860,652 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2B 209,239,417 209,244,498 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 56,285,026 56,288,308 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,405,538 12,503,545 RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5 97,625,811 97,799,499 RGD:9068941
G F5 coagulation factor V JBrowse link 1 148,718,748 148,791,049 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,484,414 10,500,605 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL21R interleukin 21 receptor JBrowse link 16 27,774,864 27,821,769 RGD:9068941
G IL23R interleukin 23 receptor JBrowse link 1 68,293,514 68,386,815 RGD:9068941
G IL4 interleukin 4 JBrowse link 5 134,253,039 134,261,581 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 5 62,554,387 62,659,641 RGD:9068941
G ITGAL integrin subunit alpha L JBrowse link 16 30,843,567 30,894,120 RGD:9068941
G ITGB2 integrin subunit beta 2 JBrowse link 21 44,470,999 44,505,963 RGD:9068941
G KLRC4 killer cell lectin like receptor C4 JBrowse link 12 10,669,493 10,699,818 RGD:9068941
G LOC100968989 HLA class II histocompatibility antigen, DM alpha chain JBrowse link 6 33,633,497 33,639,091 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,354,981 3,368,970 RGD:9068941
G MHC-DMB HLA class II histocompatibility antigen, DM beta chain JBrowse link 6 33,619,511 33,625,956 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 16 54,817,228 54,844,279 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G NAT2 N-acetyltransferase 2 JBrowse link 8 14,561,281 14,576,669 RGD:9068941
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 49,834,385 49,873,783 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 7 100,841,286 100,867,493 RGD:9068941
G PROZ protein Z, vitamin K dependent plasma glycoprotein JBrowse link 13 113,363,530 113,383,010 RGD:9068941
G PSORS1C1 psoriasis susceptibility 1 candidate 1 JBrowse link 6 31,726,297 31,751,426 RGD:9068941
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 JBrowse link 15 75,509,995 75,552,365 RGD:9068941
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 1 123,734,511 123,790,830 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 2B 224,238,284 224,252,941 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 15,152,358 15,227,084 RGD:9068941
G STAT4 signal transducer and activator of transcription 4 JBrowse link 2B 196,247,617 196,394,154 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 4 157,848,058 157,870,324 RGD:9068941
G TLR3 toll like receptor 3 JBrowse link 4 190,446,487 190,462,728 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,374,256 6,387,613 RGD:9068941
G VDR vitamin D receptor JBrowse link 12 41,661,688 41,766,192 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
G VIM vimentin JBrowse link 10 17,818,285 17,826,642 RGD:9068941
G VWF von Willebrand factor JBrowse link 12 5,990,612 6,166,632 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 10 74,230,684 74,252,072 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:7240710
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 X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 37,660,619 37,662,436 RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 16 88,800,542 88,816,811 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 16 88,800,542 88,816,811 RGD:7240710
RGD:9068941
Brittle Cornea Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:7240710
RGD:9068941
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 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 3 49,567,831 49,599,027 RGD:9068941
G KRT2 keratin 2 JBrowse link 12 36,889,586 36,897,274 RGD:7240710
RGD:9068941
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP1 LDL receptor related protein 1 JBrowse link 12 31,966,149 32,051,979 RGD:9068941
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G LEMD3 LEM domain containing 3 JBrowse link 12 24,172,749 24,251,533 RGD:7240710
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 7 145,124,291 145,327,115 RGD:7240710
RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 568,305 571,078 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:9068941
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 JBrowse link 19 4,064,626 4,097,933 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 63,613,988 63,714,928 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 15 63,712,363 63,720,420 RGD:9068941
G TIPIN TIMELESS interacting protein JBrowse link 15 63,566,463 63,586,090 RGD:9068941
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:7240710
RGD:9068941
CARDIOFACIOCUTANEOUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 63,613,988 63,714,928 RGD:7240710
RGD:9068941
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 JBrowse link 19 4,064,626 4,097,933 RGD:7240710
RGD:9068941
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNAP29 synaptosome associated protein 29 JBrowse link 22 19,572,675 19,604,943 RGD:7240710
RGD:9068941
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:7240710
RGD:9068941
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 17 25,333,945 25,358,151 RGD:9068941
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 228,505,147 228,537,216 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 11 118,425,181 118,493,090 RGD:7240710
RGD:9068941
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 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 8 70,208,697 70,262,802 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 133,698,904 133,783,644 RGD:7240710
RGD:9068941
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 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 18 28,140,132 28,171,831 RGD:7240710
RGD:9068941
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRKD1 protein kinase D1 JBrowse link 14 28,499,753 28,650,036 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 19 50,897,004 50,915,849 RGD:9068941
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 102,358,149 102,372,323 RGD:9068941
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPAG17 sperm associated antigen 17 JBrowse link 1 119,335,369 119,556,711 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 14 75,387,742 75,485,904 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR19 WD repeat domain 19 JBrowse link 4 39,365,204 39,470,074 RGD:7240710
RGD:9068941
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 3 159,637,965 160,292,119 RGD:9068941
G NLRC4 NLR family CARD domain containing 4 JBrowse link 2A 32,954,185 32,996,465 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 228,505,147 228,537,216 RGD:9068941
G PLCG2 phospholipase C gamma 2 JBrowse link 16 81,812,581 81,984,067 RGD:9068941
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,451,669 55,468,601 RGD:9068941
G FECH ferrochelatase JBrowse link 18 54,273,527 54,312,255 RGD:9068941
G UROS uroporphyrinogen III synthase JBrowse link 10 126,610,621 126,648,363 RGD:7240710
RGD:9068941
cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP7A ATPase copper transporting alpha JBrowse link X 77,205,579 77,342,762 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 11 64,555,877 64,561,950 RGD:9068941
G ELN elastin JBrowse link 7 81,177,699 81,218,306 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 14 91,848,430 91,927,470 RGD:9068941
G LTBP4 latent transforming growth factor beta binding protein 4 JBrowse link 19 46,144,485 46,181,636 RGD:9068941
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 17 82,040,824 82,045,691 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT10 keratin 10 JBrowse link 17 16,686,898 16,691,221 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 111,249,039 111,316,532 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 12 111,249,039 111,316,532 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 RGD:7240710
RGD:9068941
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
RGD:7240710
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT9 keratin 9 JBrowse link 17 15,963,459 15,967,870 RGD:9068941
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP5 aquaporin 5 JBrowse link 12 39,683,503 39,687,772 RGD:7240710
RGD:9068941
dilated cardiomyopathy with woolly hair and keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 15 55,873,796 56,027,188 RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 RGD:9068941
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 123,503,899 123,529,919 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 RGD:7240710
RGD:9068941
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 123,503,899 123,529,919 RGD:7240710
RGD:9068941
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 2B 225,058,771 225,067,626 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 2B 225,058,771 225,067,626 RGD:7240710
RGD:9068941
dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 17 48,142,864 48,165,537 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,084,412 154,098,475 RGD:9068941
G GAR1 GAR1 ribonucleoprotein JBrowse link 4 112,878,912 112,888,134 RGD:9068941
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 180,566,008 180,570,502 RGD:9068941
G PARN poly(A)-specific ribonuclease JBrowse link 16 14,787,881 14,977,786 RGD:9068941
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 17 48,121,601 48,141,728 RGD:9068941
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 20 61,580,222 61,619,172 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 23,139,445 23,142,825 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 1 133,549,380 133,595,115 RGD:9068941
G BMS1 BMS1 ribosome biogenesis factor JBrowse link 10 42,942,439 42,983,304 RGD:7240710
RGD:9068941
G EDA ectodysplasin A JBrowse link X 68,946,036 69,371,175 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 2A 110,146,499 110,241,556 RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 1 216,919,471 217,044,046 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 13 19,864,208 19,874,385 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 RGD:9068941
G KRT16 keratin 16 JBrowse link 17 15,922,924 15,925,956 RGD:9068941
G KRT17 keratin 17 JBrowse link 17 15,910,681 15,916,079 RGD:9068941
G NECTIN1 nectin cell adhesion molecule 1 JBrowse link 11 118,425,181 118,493,090 RGD:9068941
G PKP1 plakophilin 1 JBrowse link 1 181,182,829 181,232,347 RGD:9068941
G RANBP2 RAN binding protein 2 JBrowse link 2A 110,010,961 110,039,769 RGD:9068941
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 RGD:9068941
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 68,946,036 69,371,175 RGD:7240710
RGD:9068941
G EDA2R ectodysplasin A2 receptor JBrowse link X 65,851,559 65,894,775 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 1 216,919,471 217,044,046 RGD:7240710
RGD:9068941
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDARADD EDAR associated death domain JBrowse link 1 216,919,471 217,044,046 RGD:7240710
RGD:9068941
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KDF1 keratinocyte differentiation factor 1 JBrowse link 1 27,267,106 27,277,713 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 22 27,828,014 28,007,213 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 21 44,087,591 44,299,107 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 2A 110,146,499 110,241,556 RGD:7240710
RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 1 216,919,471 217,044,046 RGD:9068941
G RANBP2 RAN binding protein 2 JBrowse link 2A 110,010,961 110,039,769 RGD:9068941
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 12 35,596,821 35,604,560 RGD:9068941
G KRT74 keratin 74 JBrowse link 12 36,967,950 36,975,931 RGD:9068941
Ectodermal Dysplasia 7, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT74 keratin 74 JBrowse link 12 36,967,950 36,975,931 RGD:7240710
RGD:9068941
Ectodermal Dysplasia 9, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 12 35,596,821 35,604,560 RGD:7240710
RGD:9068941
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NFKBIA NFKB inhibitor alpha JBrowse link 14 34,337,307 34,340,225 RGD:7240710
RGD:9068941
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH3 cadherin 3 JBrowse link 16 68,408,078 68,465,287 RGD:7240710
RGD:9068941
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:9068941
G PKP1 plakophilin 1 JBrowse link 1 181,182,829 181,232,347 RGD:7240710
RGD:9068941
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECTIN4 nectin cell adhesion molecule 4 JBrowse link 1 140,396,347 140,415,606 RGD:7240710
RGD:9068941
G PRR4 proline rich 4 JBrowse link 12 11,140,167 11,143,783 RGD:9068941
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GRHL2 grainyhead like transcription factor 2 JBrowse link 8 100,295,531 100,471,830 RGD:7240710
RGD:9068941
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 RGD:7240710
RGD:9068941
EDS VIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 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 5 181,554,934 181,785,167 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 2B 194,204,613 194,242,956 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G DCN decorin JBrowse link 12 91,994,129 92,031,258 RGD:9068941
G LOC100992963 tenascin-X JBrowse link 6 32,572,833 32,637,194 RGD:9068941
G LOX lysyl oxidase JBrowse link 5 123,233,359 123,248,658 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100992963 tenascin-X JBrowse link 6 32,572,833 32,637,194 RGD:7240710
RGD:9068941
Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,188,683 1,191,648 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:7240710
RGD:9068941
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 2B 194,204,613 194,242,956 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 RGD:9068941
G SLC40A1 solute carrier family 40 member 1 JBrowse link 2B 194,787,575 194,808,129 RGD:9068941
G WDR75 WD repeat domain 75 JBrowse link 2B 194,668,211 194,702,343 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 1 11,945,849 11,981,077 RGD:9068941
G MYBPC3 myosin binding protein C, cardiac JBrowse link 11 47,830,605 47,851,909 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:7240710
RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 1 181,258,314 181,277,048 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 110,754,238 110,786,182 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 12 7,126,723 7,137,895 RGD:9068941
RGD:7240710
G C1S complement C1s JBrowse link 12 7,107,214 7,117,614 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 7 99,935,185 99,971,810 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AEBP1 AE binding protein 1 JBrowse link 7 44,886,238 44,896,194 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 7 30,758,165 30,772,640 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 37,660,619 37,662,436 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSE dermatan sulfate epimerase JBrowse link 6 118,347,786 118,386,201 RGD:7240710
RGD:9068941
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 12 7,126,723 7,137,895 RGD:9068941
G C1S complement C1s JBrowse link 12 7,107,214 7,117,614 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 1 1,188,683 1,191,648 RGD:7240710
RGD:9068941
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,391,081 134,543,769 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 2B 194,259,316 194,407,237 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 5 181,554,934 181,785,167 RGD:7240710
RGD:9068941
Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC39 coiled-coil domain containing 39 JBrowse link 3 185,811,581 185,878,362 RGD:9068941
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,790,437 5,892,283 RGD:7240710
RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,635,151 5,782,657 RGD:7240710
RGD:9068941
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 2B 244,404,777 244,481,785 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 2A 20,014,127 20,093,794 RGD:9068941
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
RGD:7240710
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXPH5 exophilin 5 JBrowse link 11 106,863,711 106,947,678 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 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 3 49,567,831 49,599,027 RGD:7240710
RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 11 101,221,393 101,230,104 RGD:7240710
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 3 49,567,831 49,599,027 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 3 49,567,831 49,599,027 RGD:7240710
RGD:9068941
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 57,646,402 58,144,563 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 RGD:7240710
RGD:9068941
G KLHL24 kelch like family member 24 JBrowse link 3 188,837,980 188,888,933 RGD:9068941
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:7240710
RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:9068941
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:9068941
RGD:7240710
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:9068941
RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex with Nail Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex With Pyloric Atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 57,646,402 58,144,563 RGD:9068941
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:7240710
RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 6 57,646,402 58,144,563 RGD:7240710
RGD:9068941
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL24 kelch like family member 24 JBrowse link 3 188,837,980 188,888,933 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 3 49,567,831 49,599,027 RGD:7240710
RGD:9068941
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXPH5 exophilin 5 JBrowse link 11 106,863,711 106,947,678 RGD:7240710
RGD:9068941
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 1 35,208,367 35,210,949 RGD:9068941
G JUP junction plakoglobin JBrowse link 17 15,747,163 15,777,479 RGD:9068941
G KRT10 keratin 10 JBrowse link 17 16,686,898 16,691,221 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
G TMEM99 transmembrane protein 99 JBrowse link 17 16,674,079 16,690,357 RGD:9068941
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:9068941
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT16 keratin 16 JBrowse link 17 15,922,924 15,925,956 RGD:9068941
G KRT9 keratin 9 JBrowse link 17 15,963,459 15,967,870 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT9 keratin 9 JBrowse link 17 15,963,459 15,967,870 RGD:9068941
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:7240710
RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 1 35,208,367 35,210,949 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 1 35,208,367 35,210,949 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 6 123,348,744 123,360,887 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 18 60,003,576 60,040,365 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 1 35,229,660 35,234,821 RGD:9068941
Erythrokeratodermia with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 81,068,876 81,101,644 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 4 91,101,321 91,170,418 RGD:9068941
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,451,669 55,468,601 RGD:9068941
G AREG amphiregulin JBrowse link 4 55,570,299 55,580,142 RGD:9068941
G BTC betacellulin JBrowse link 4 55,242,885 55,296,894 RGD:9068941
G EREG epiregulin JBrowse link 4 55,641,014 55,660,568 RGD:9068941
G FECH ferrochelatase JBrowse link 18 54,273,527 54,312,255 RGD:7240710
RGD:9068941
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 55,451,669 55,468,601 RGD:7240710
RGD:9068941
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSTA cystatin A JBrowse link 3 126,323,901 126,338,133 RGD:7240710
RGD:9068941
Facial Ectodermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TWIST2 twist family bHLH transcription factor 2 JBrowse link 2B 244,921,429 244,982,136 RGD:7240710
RGD:9068941
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNFAIP3 TNF alpha induced protein 3 JBrowse link 6 139,705,255 139,721,264 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 19 59,581,547 59,614,665 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 228,505,147 228,537,216 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 1 228,505,147 228,537,216 RGD:7240710
RGD:9068941
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP12 NLR family pyrin domain containing 12 JBrowse link 19 59,581,547 59,614,665 RGD:7240710
RGD:9068941
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCG2 phospholipase C gamma 2 JBrowse link 16 81,812,581 81,984,067 RGD:7240710
RGD:9068941
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 2A 32,954,185 32,996,465 RGD:7240710
RGD:9068941
familial Mediterranean fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 192,341,471 192,354,885 RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 60,901,073 61,083,462 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
G LPA lipoprotein(a) JBrowse link 6 163,496,887 163,600,557 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 16 3,354,981 3,368,970 RGD:7240710
RGD:9068941
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 16 49,834,385 49,873,783 RGD:9068941
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 6 52,435,455 52,903,309 RGD:9068941
G POMC proopiomelanocortin JBrowse link 2A 25,258,768 25,266,806 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,392,354 6,423,118 RGD:9068941
G SERPINA1 serpin family A member 1 JBrowse link 14 94,334,258 94,347,085 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
G THBD thrombomodulin JBrowse link 20 23,343,758 23,347,966 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,374,256 6,387,613 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 16 3,354,981 3,368,970 RGD:7240710
RGD:9068941
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HMBS hydroxymethylbilane synthase JBrowse link 11 117,852,295 117,860,757 RGD:9068941
G PORCN porcupine O-acyltransferase JBrowse link X 48,670,973 48,683,318 RGD:7240710
RGD:9068941
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100989646 cytochrome P450 26C1 JBrowse link 10 93,317,798 93,325,315 RGD:9068941
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100989646 cytochrome P450 26C1 JBrowse link 10 93,317,798 93,325,315 RGD:7240710
RGD:9068941
Generalized Elastolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,910,552 47,918,014 RGD:9068941
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GORAB golgin, RAB6 interacting JBrowse link 1 149,736,635 149,758,010 RGD:7240710
RGD:9068941
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 RGD:7240710
RGD:9068941
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2B 243,569,782 243,633,177 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 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 3 135,301,721 135,423,700 RGD:7240710
RGD:9068941
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 102,358,149 102,372,323 RGD:9068941
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN10 claudin 10 JBrowse link 13 95,763,745 95,909,161 RGD:9068941
RGD:7240710
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 9 112,859,171 112,873,784 RGD:9068941
G CPOX coproporphyrinogen oxidase JBrowse link 3 102,358,149 102,372,323 RGD:9068941
G FECH ferrochelatase JBrowse link 18 54,273,527 54,312,255 RGD:9068941
G HMBS hydroxymethylbilane synthase JBrowse link 11 117,852,295 117,860,757 RGD:9068941
G PPOX protoporphyrinogen oxidase JBrowse link 1 140,491,667 140,496,506 RGD:9068941
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,679,744 45,683,185 RGD:9068941
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UROD uroporphyrinogen decarboxylase JBrowse link 1 45,679,744 45,683,185 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 2A 32,954,185 32,996,465 RGD:9068941
G TNFAIP3 TNF alpha induced protein 3 JBrowse link 6 139,705,255 139,721,264 RGD:9068941
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 3 102,358,149 102,372,323 RGD:7240710
RGD:9068941
hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT13 keratin 13 JBrowse link 17 16,028,747 16,033,434 RGD:7240710
RGD:9068941
G KRT4 keratin 4 JBrowse link 12 36,723,775 36,731,901 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 37,502,986 37,835,904 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,787,798 6,789,100 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,133,721 8,184,127 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 21,210,798 21,219,172 RGD:9068941
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2B 140,185,803 140,189,626 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 19 19,005,136 19,016,552 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 86,710,358 86,772,796 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 23,165,254 23,171,339 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 141,841,526 141,919,678 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 50,713,498 50,727,579 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 123,200,964 123,236,132 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 19 2,084,349 2,135,058 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 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 19 2,084,349 2,135,058 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 5 37,502,986 37,835,904 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:7240710
RGD:9068941
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1B DNA cross-link repair 1B JBrowse link 1 123,692,921 123,701,403 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,084,412 154,098,475 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 5 1,300,397 1,338,241 RGD:9068941
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT16 keratin 16 JBrowse link 17 15,922,924 15,925,956 RGD:9068941
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 68,946,036 69,371,175 RGD:9068941
G EDA2R ectodysplasin A2 receptor JBrowse link X 65,851,559 65,894,775 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 2A 110,146,499 110,241,556 RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 1 216,919,471 217,044,046 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:9068941
G RANBP2 RAN binding protein 2 JBrowse link 2A 110,010,961 110,039,769 RGD:9068941
G TRAF6 TNF receptor associated factor 6 JBrowse link 11 36,330,336 36,356,334 RGD:9068941
G WNT10A Wnt family member 10A JBrowse link 2B 224,735,800 224,748,567 RGD:9068941
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDAR ectodysplasin A receptor JBrowse link 2A 110,146,499 110,241,556 RGD:7240710
RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 1 216,919,471 217,044,046 RGD:9068941
G RANBP2 RAN binding protein 2 JBrowse link 2A 110,010,961 110,039,769 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 X 153,869,352 153,876,677 RGD:7240710
RGD:9068941
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:9068941
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 131,276,648 131,285,336 RGD:7240710
RGD:9068941
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 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 17 49,019,889 49,055,245 RGD:7240710
RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 14 57,105,891 57,133,181 RGD:9068941
G PSMB8 proteasome subunit beta 8 JBrowse link 6 33,525,681 33,529,897 RGD:7240710
RGD:9068941
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 15 40,057,680 40,223,042 RGD:7240710
RGD:9068941
junctional epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL17A1 collagen type XVII alpha 1 chain JBrowse link 10 104,090,730 104,145,169 RGD:9068941
G ITGA6 integrin subunit alpha 6 JBrowse link 2B 177,170,403 177,250,143 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 1 189,996,634 190,034,206 RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 1 162,862,789 162,921,864 RGD:9068941
G LOC100977893 laminin subunit alpha-3 JBrowse link 18 20,750,271 20,832,028 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 2B 177,170,403 177,250,143 RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 1 189,996,634 190,034,206 RGD:7240710
RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 1 162,862,789 162,921,864 RGD:7240710
RGD:9068941
G LOC100977893 laminin subunit alpha-3 JBrowse link 18 20,750,271 20,832,028 RGD:7240710
RGD:9068941
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL17A1 collagen type XVII alpha 1 chain JBrowse link 10 104,090,730 104,145,169 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 RGD:7240710
RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 1 189,996,634 190,034,206 RGD:7240710
RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 1 162,862,789 162,921,864 RGD:7240710
RGD:9068941
G LOC100977893 laminin subunit alpha-3 JBrowse link 18 20,750,271 20,832,028 RGD:7240710
RGD:9068941
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GALK1 galactokinase 1 JBrowse link 17 75,259,522 75,266,578 RGD:9068941
G ITGA6 integrin subunit alpha 6 JBrowse link 2B 177,170,403 177,250,143 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 17 75,222,441 75,259,401 RGD:7240710
RGD:9068941
G PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:9068941
Keratolytic Winter Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSB cathepsin B RGD:9068941
RGD:7240710
keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANXA1 annexin A1 JBrowse link 9 71,930,148 71,948,779 RGD:9068941
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 111,249,039 111,316,532 RGD:7240710
RGD:9068941
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,825,780 21,871,381 RGD:7240710
RGD:9068941
G SAT1 spermidine/spermine N1-acetyltransferase 1 JBrowse link X 23,756,604 23,759,743 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 13 28,286,500 28,305,990 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG1 desmoglein 1 JBrowse link 18 28,140,132 28,171,831 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris with Esophageal Cancer term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RHBDF2 rhomboid 5 homolog 2 JBrowse link 17 75,968,187 76,139,913 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSC cathepsin C JBrowse link 11 86,890,010 86,933,847 RGD:7240710
RGD:9068941
KERATOSIS PILARIS ATROPHICANS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP1 LDL receptor related protein 1 JBrowse link 12 31,966,149 32,051,979 RGD:9068941
RGD:7240710
Kindler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FERMT1 fermitin family member 1 JBrowse link 20 5,856,287 5,902,251 RGD:9068941
RGD:7240710
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 77,194,757 77,200,532 RGD:7240710
RGD:9068941
lipoid proteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ECM1 extracellular matrix protein 1 JBrowse link 1 129,502,041 129,507,819 RGD:7240710
RGD:9068941
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 20 19,683,013 19,925,764 RGD:7240710
RGD:9068941
mal de Meleda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLURP1 secreted LY6/PLAUR domain containing 1 JBrowse link 8 142,496,754 142,498,207 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 7 106,536,450 106,543,317 RGD:7240710
RGD:9068941
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein JBrowse link 1 138,858,353 138,860,652 RGD:9068941
G MMAB metabolism of cobalamin associated B JBrowse link 12 110,528,043 110,544,871 RGD:9068941
G MVK mevalonate kinase JBrowse link 12 110,544,991 110,568,524 RGD:7240710
RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
Michelin Tire Baby Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUBB tubulin beta class I JBrowse link 6 31,333,985 31,339,739 RGD:9068941
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 1 228,505,147 228,537,216 RGD:7240710
RGD:9068941
Muir-Torre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FHIT fragile histidine triad JBrowse link 3 61,069,947 62,568,700 RGD:9068941
G MLH1 mutL homolog 1 JBrowse link 3 37,189,439 37,245,801 RGD:7240710
RGD:9068941
G MSH2 mutS homolog 2 JBrowse link 2A 48,447,207 48,525,638 RGD:7240710
RGD:9068941
Naegeli Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:7240710
RGD:9068941
Naxos Disease term browser
Symbol Object Name JBrowse Chr