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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 9 21,261,233 21,265,564 RGD:9068941
G KRT73 keratin 73 JBrowse link 27 2,477,859 2,488,437 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 32 17,089,514 17,167,917 RGD:7240710
RGD:9068941
Actinic Prurigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
Adams-Oliver syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 33 22,965,941 23,079,590 RGD:9068941
G DLL4 delta like canonical Notch ligand 4 JBrowse link 30 8,059,463 8,068,742 RGD:9068941
G DOCK6 dedicator of cytokinesis 6 JBrowse link 20 50,029,354 50,066,829 RGD:9068941
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 20 22,722,142 22,757,188 RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 48,975,972 49,018,985 RGD:9068941
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 3 84,060,417 84,286,008 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 33 22,965,941 23,079,590 RGD:7240710
RGD:9068941
G NOTCH1 notch receptor 1 JBrowse link 9 48,975,972 49,018,985 RGD:9068941
Adams-Oliver Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK6 dedicator of cytokinesis 6 JBrowse link 20 50,029,354 50,066,829 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 3 84,060,417 84,286,008 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 20 22,722,142 22,757,188 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 48,975,972 49,018,985 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 30 8,059,463 8,068,742 RGD:7240710
RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 34 21,766,861 21,985,095 RGD:7240710
RGD:9068941
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 11 67,736,643 67,752,399 RGD:7240710
RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 122,217,317 122,231,862 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 42,302,971 42,327,787 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 6,438,068 6,479,731 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 8 4,086,487 4,090,373 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 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 1 60,941,772 60,944,694 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 subunit gamma JBrowse link X 122,232,052 122,253,499 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 34 21,766,861 21,985,095 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 6 37,708,258 37,746,361 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 27 22,261,753 22,296,704 RGD:9068941
G NLRP5 NLR family pyrin domain containing 5 JBrowse link 1 101,813,449 101,842,643 RGD:9068941
arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 26 38,700,434 38,714,915 RGD:9068941
G FLNA filamin A JBrowse link X 122,058,303 122,083,467 RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 18 51,396,980 51,404,563 RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 24 33,905,099 33,920,604 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 10 46,261,747 46,300,084 RGD:9068941
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 10 46,231,433 46,270,102 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 6 39,262,887 39,308,912 RGD:9068941
G NEK1 NIMA related kinase 1 JBrowse link 25 20,297,190 20,528,537 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 36 11,009,362 11,086,586 RGD:9068941
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT80 intraflagellar transport 80 JBrowse link 34 26,332,456 26,455,428 RGD:7240710
RGD:9068941
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA2 adenosine deaminase 2 JBrowse link 27 44,883,573 44,912,930 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 5 24,180,129 24,297,207 RGD:7240710
RGD:9068941
G C5H11orf65 chromosome 5 C11orf65 homolog JBrowse link 5 24,106,696 24,166,686 RGD:9068941
G HDAC4 histone deacetylase 4 JBrowse link 25 49,318,621 49,545,314 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 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 21 6,448,909 6,528,185 RGD:9068941
G PCNA proliferating cell nuclear antigen JBrowse link 24 16,478,774 16,485,992 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 5 33,538,354 33,604,984 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 1 106,695,649 106,707,229 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 5 24,180,129 24,297,207 RGD:9068941
G C5H11orf65 chromosome 5 C11orf65 homolog JBrowse link 5 24,106,696 24,166,686 RGD:9068941
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CBS cystathionine-beta-synthase JBrowse link 31 37,230,900 37,247,170 RGD:9068941
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 JBrowse link 11 8,717,182 8,810,716 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 55,487,629 55,508,941 RGD:9068941
G MRE11 MRE11 homolog, double strand break repair nuclease JBrowse link 21 6,448,909 6,528,185 RGD:7240710
RGD:9068941
G SLC2A10 solute carrier family 2 member 10 JBrowse link 24 33,905,099 33,920,604 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 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 24 16,478,774 16,485,992 RGD:7240710
RGD:9068941
atopic dermatitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL9 actin like 9 JBrowse link 20 53,176,345 53,179,880 RGD:9068941
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 17 6,589,874 6,638,788 RGD:9068941
G APOE apolipoprotein E JBrowse link 1 110,525,717 110,528,534 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 21 48,191,580 48,243,699 RGD:9068941
G C3 complement C3 JBrowse link 20 53,566,226 53,598,365 RGD:9068941
G CARD11 caspase recruitment domain family member 11 JBrowse link 6 14,273,115 14,331,029 RGD:9068941
G CASP8 caspase 8 JBrowse link 37 10,362,071 10,402,108 RGD:9068941
G CCDC80 coiled-coil domain containing 80 JBrowse link 33 17,105,086 17,141,380 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 2 59,001,463 59,014,347 RGD:9068941
G CCL20 C-C motif chemokine ligand 20 JBrowse link 25 40,506,385 40,509,903 RGD:9068941
G CCL22 C-C motif chemokine ligand 22 JBrowse link 2 59,039,650 59,045,519 RGD:9068941
G CCL24 C-C motif chemokine ligand 24 JBrowse link 6 7,166,165 7,179,606 RGD:9068941
G CCL26 C-C motif chemokine ligand 26 JBrowse link 6 7,151,352 7,154,509 RGD:9068941
G CCL27 C-C motif chemokine ligand 27 JBrowse link 11 51,334,870 51,338,752 RGD:9068941
G CCL28 C-C motif chemokine ligand 28 JBrowse link 4 66,567,139 66,597,310 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 9 37,817,409 37,823,852 RGD:9068941
G CCR2 C-C motif chemokine receptor 2 JBrowse link 20 42,305,344 42,313,258 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 20 42,382,380 42,398,449 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 20 42,293,288 42,297,952 RGD:9068941
G CD40 CD40 molecule JBrowse link 24 33,352,992 33,383,488 RGD:9068941
G CLDN1 claudin 1 JBrowse link 34 22,303,058 22,319,101 RGD:9068941
G CLDN23 claudin 23 JBrowse link 16 35,786,709 35,788,430 RGD:9068941
G CMA1 chymase 1 JBrowse link 8 4,438,244 4,441,189 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 37 12,647,712 12,653,874 RGD:9068941
G CTSE cathepsin E JBrowse link 38 2,368,711 2,380,554 RGD:9068941
G CX3CL1 C-X3-C motif chemokine ligand 1 JBrowse link 2 59,022,794 59,032,095 RGD:9068941
G CX3CR1 C-X3-C motif chemokine receptor 1 JBrowse link 23 8,937,069 8,954,738 RGD:9068941
G CXCL10 C-X-C motif chemokine ligand 10 JBrowse link 32 598,406 599,925 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 55,882,433 55,884,582 RGD:9068941
G EMSY EMSY transcriptional repressor, BRCA2 interacting JBrowse link 21 22,149,131 22,289,857 RGD:9068941
G F2 coagulation factor II, thrombin JBrowse link 18 42,782,744 42,799,531 RGD:9068941
G FLG filaggrin JBrowse link 17 61,217,915 61,233,068 RGD:9068941
G GLB1 galactosidase beta 1 JBrowse link 23 3,721,768 3,814,209 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 18 49,905,161 49,908,182 RGD:9068941
G HAVCR1 hepatitis A virus cellular receptor 1 JBrowse link 4 53,012,223 53,066,611 RGD:9068941
G HNMT histamine N-methyltransferase JBrowse link 19 40,656,266 40,702,498 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IL10 interleukin 10 JBrowse link 7 5,933,285 5,937,057 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL13RA1 interleukin 13 receptor subunit alpha 1 JBrowse link X 90,925,497 90,981,855 RGD:9068941
G IL13RA2 interleukin 13 receptor subunit alpha 2 JBrowse link X 87,747,373 87,776,797 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL21R interleukin 21 receptor JBrowse link 6 19,181,846 19,217,915 RGD:9068941
G IL31 interleukin 31 JBrowse link 26 7,173,151 7,175,195 RGD:9068941
G IL33 interleukin 33 JBrowse link 11 27,219,878 27,256,723 RGD:9068941
G IL4 interleukin 4 JBrowse link 11 20,972,693 20,981,539 RGD:9068941
G IL4R interleukin 4 receptor JBrowse link 6 19,254,183 19,280,973 RGD:9068941
G IL5 interleukin 5 JBrowse link 11 20,825,469 20,827,269 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G LOC612543 uncharacterized LOC612543 JBrowse link 1 113,949,498 113,956,579 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 28 323,361 410,367 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MC1R melanocortin 1 receptor JBrowse link 5 63,694,296 63,695,249 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MS4A2 membrane spanning 4-domains A2 JBrowse link 21 50,439,133 50,456,785 RGD:9068941
G NFKBIA NFKB inhibitor alpha JBrowse link 8 14,100,203 14,103,453 RGD:9068941
G NFKBIZ NFKB inhibitor zeta JBrowse link 33 8,147,160 8,154,401 RGD:9068941
G NGF nerve growth factor JBrowse link 17 52,900,647 52,901,607 RGD:9068941
G NGFR nerve growth factor receptor JBrowse link 9 25,598,468 25,621,021 RGD:9068941
G NTRK1 neurotrophic receptor tyrosine kinase 1 JBrowse link 7 41,140,931 41,159,326 RGD:9068941
G OVOL1 ovo like transcriptional repressor 1 JBrowse link 18 51,454,170 51,465,189 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 10 19,934,020 20,006,096 RGD:9068941
G RELB RELB proto-oncogene, NF-kB subunit JBrowse link 1 110,436,677 110,466,709 RGD:9068941
G S100A8 S100 calcium binding protein A8 JBrowse link 7 43,540,667 43,541,604 RGD:9068941
G SELE selectin E JBrowse link 7 28,888,503 28,898,787 RGD:9068941
G SELP selectin P JBrowse link 7 28,956,428 28,997,266 RGD:9068941
G SHARPIN SHANK associated RH domain interactor JBrowse link 13 37,594,155 37,598,510 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 37 25,039,203 25,047,461 RGD:9068941
G STAT6 signal transducer and activator of transcription 6 JBrowse link 10 1,232,515 1,247,011 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 15 51,454,557 51,465,429 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TMEM79 transmembrane protein 79 JBrowse link 7 41,591,332 41,597,993 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TNFAIP6 TNF alpha induced protein 6 JBrowse link 19 52,607,598 52,623,799 RGD:9068941
G TRAF3IP2 TRAF3 interacting protein 2 JBrowse link 12 68,029,861 68,070,901 RGD:9068941
G TRPV3 transient receptor potential cation channel subfamily V member 3 JBrowse link 9 47,365,275 47,398,198 RGD:9068941
G TSLP thymic stromal lymphopoietin JBrowse link 3 1,502,469 1,507,696 RGD:9068941
G VDR vitamin D receptor JBrowse link 27 6,852,915 6,909,466 RGD:9068941
G VNN1 vanin 1 JBrowse link 1 25,678,039 25,704,579 RGD:9068941
G ZNF365 zinc finger protein 365 JBrowse link 4 14,297,652 14,429,634 RGD:9068941
atopic dermatitis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 17 61,217,915 61,233,068 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 9 2,859,267 2,859,944 RGD:7240710
RGD:9068941
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 5 31,264,554 31,299,538 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 17 25,517,051 25,518,224 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 5 70,054,683 70,233,459 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 28 9,101,578 9,148,063 RGD:9068941
G ELN elastin JBrowse link 6 6,299,524 6,331,425 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 RGD:9068941
autosomal dominant cutis laxa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 6 6,299,524 6,331,425 RGD:9068941
RGD:7240710
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 RGD:9068941
autosomal dominant cutis laxa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 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 28 9,101,578 9,148,063 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 34 34,372,244 34,374,702 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 8 4,221,183 4,223,863 RGD:9068941
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 8 4,221,183 4,223,863 RGD:9068941
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 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 8 4,221,183 4,223,863 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 24 47,219,977 47,248,791 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 5 81,789,915 81,792,725 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 20 40,519,121 40,550,305 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 27 38,641,837 38,654,693 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 36 30,488,250 30,526,367 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 37 22,136,732 22,306,917 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 5 32,899,416 32,911,442 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 20 46,674,580 46,743,183 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 41,774,857 41,779,474 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G NIPAL4 NIPA like domain containing 4 JBrowse link 4 52,735,094 52,748,168 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 120,720,118 120,754,573 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 12 5,377,430 5,423,556 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 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 37 22,136,732 22,306,917 RGD:9068941
G ABHD5 abhydrolase domain containing 5 JBrowse link 23 2,584,813 2,619,204 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 5 32,899,416 32,911,442 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 1 107,705,568 107,721,160 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 RGD:12801476
RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 12 5,377,430 5,423,556 RGD:12801476
RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 5 4,652,493 4,666,728 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 20 47,060,351 47,067,169 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 10 1,112,832 1,121,238 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 1 107,705,568 107,721,160 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 5 32,899,416 32,911,442 RGD:7240710
RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 1 107,705,568 107,721,160 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:7240710
RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 5 32,844,033 32,859,263 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 37 22,136,732 22,306,917 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 37 22,136,732 22,306,917 RGD:7240710
RGD:9068941
G CST6 cystatin E/M JBrowse link 18 51,263,161 51,264,816 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 6 17,110,251 17,114,564 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 20 46,674,580 46,743,183 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 4 52,735,094 52,748,168 RGD:12801476
RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPN lipase family member N JBrowse link 26 38,573,408 38,588,171 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 3 40,448,174 40,570,736 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 28 9,101,578 9,148,063 RGD:9068941
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 JBrowse link 26 5,911,319 5,952,773 RGD:9068941
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 18 51,389,797 51,396,109 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 18 51,396,980 51,404,563 RGD:9068941
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 9 360,353 364,795 RGD:9068941
G TCTN2 tectonic family member 2 JBrowse link 26 5,954,302 5,979,853 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 18 51,389,797 51,396,109 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 RGD:7240710
RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 18 51,396,980 51,404,563 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 18 51,389,797 51,396,109 RGD:7240710
RGD:9068941
G MUS81 MUS81 structure-specific endonuclease subunit JBrowse link 18 51,396,980 51,404,563 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 1 113,124,109 113,152,283 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 26 5,911,319 5,952,773 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 9 360,353 364,795 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 27 45,222,647 45,249,317 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 33 18,038,143 18,103,649 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 28 9,101,578 9,148,063 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 28 9,101,578 9,148,063 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 9 360,353 364,795 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 5 33,033,474 33,055,004 RGD:9068941
G NHP2 NHP2 ribonucleoprotein JBrowse link 11 3,389,549 3,393,010 RGD:9068941
G NOP10 NOP10 ribonucleoprotein JBrowse link 30 766,801 767,615 RGD:9068941
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 5 33,055,144 33,076,823 RGD:9068941
G SLC12A6 solute carrier family 12 member 6 JBrowse link 30 773,021 860,936 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 5 32,574,153 32,586,222 RGD:9068941
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 11 3,389,549 3,393,010 RGD:9068941
G NOP10 NOP10 ribonucleoprotein JBrowse link 30 766,801 767,615 RGD:9068941
RGD:7240710
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHP2 NHP2 ribonucleoprotein JBrowse link 11 3,389,549 3,393,010 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 5 32,574,153 32,586,222 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 34 11,288,622 11,307,790 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 24 47,250,442 47,256,637 RGD:9068941
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 24 47,219,977 47,248,791 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 RGD:9068941
G TNFRSF6B TNF receptor superfamily member 6b JBrowse link 24 47,248,931 47,250,488 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 6 28,629,137 28,783,671 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 5 81,789,915 81,792,725 RGD:9068941
Bart-Pumphrey syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 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 32 17,089,514 17,167,917 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 1 60,941,772 60,944,694 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 14 13,644,891 13,852,829 RGD:9068941
G ACE angiotensin I converting enzyme JBrowse link 9 11,497,182 11,516,362 RGD:9068941
G ADA2 adenosine deaminase 2 JBrowse link 27 44,883,573 44,912,930 RGD:9068941
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 34 19,398,310 19,410,519 RGD:9068941
G APOA1 apolipoprotein A1 JBrowse link 5 16,740,071 16,742,081 RGD:9068941
G APOB apolipoprotein B JBrowse link 17 15,877,937 15,916,032 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCR1 chemokine (C-C motif) receptor 1 JBrowse link 20 42,421,356 42,427,177 RGD:9068941
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 20 42,293,288 42,297,952 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 107,001,421 107,023,007 RGD:9068941
G CFB complement factor B JBrowse link 12 1,400,143 1,406,267 RGD:9068941
G CPB2 carboxypeptidase B2 JBrowse link 22 5,074,805 5,126,635 RGD:9068941
G CRP C-reactive protein JBrowse link 38 22,396,787 22,398,180 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 37 12,647,712 12,653,874 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 13 62,435,035 62,438,354 RGD:9068941
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 30 37,793,277 37,799,535 RGD:9068941
G DLA-64 MHC class I DLA-64 JBrowse link 12 983,573 986,969 RGD:9068941
G DLA-DMA major histocompatibility complex, class II, DM alpha JBrowse link 12 2,516,974 2,534,085 RGD:9068941
G DLA-DMB major histocompatibility complex, class II, DM beta JBrowse link 12 2,503,325 2,508,380 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 3 12,879,823 12,920,710 RGD:9068941
G F5 coagulation factor V JBrowse link 7 28,999,481 29,069,603 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 20 50,818,715 50,827,914 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:9068941
G IL10 interleukin 10 JBrowse link 7 5,933,285 5,937,057 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL21R interleukin 21 receptor JBrowse link 6 19,181,846 19,217,915 RGD:9068941
G IL23R interleukin 23 receptor JBrowse link 5 43,307,422 43,369,806 RGD:9068941
G IL4 interleukin 4 JBrowse link 11 20,972,693 20,981,539 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G ITGA2 integrin subunit alpha 2 JBrowse link 4 62,170,137 62,268,962 RGD:9068941
G ITGAL integrin subunit alpha L JBrowse link 6 17,605,611 17,645,134 RGD:9068941
G ITGB2 integrin subunit beta 2 JBrowse link 31 38,520,733 38,547,003 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III JBrowse link 38 21,054,870 21,060,948 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 6 37,964,776 37,984,830 RGD:9068941
G MMP2 matrix metallopeptidase 2 JBrowse link 2 60,471,092 60,492,991 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 2 64,636,850 64,667,232 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 14 20,565,620 20,600,774 RGD:9068941
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 JBrowse link 30 39,270,852 39,309,507 RGD:9068941
G PTPN22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 17 51,623,628 51,683,039 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SLC11A1 solute carrier family 11 member 1 JBrowse link 37 25,039,203 25,047,461 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 9 20,539,660 20,614,631 RGD:9068941
G STAT4 signal transducer and activator of transcription 4 JBrowse link 37 1,566,563 1,685,378 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 15 51,454,557 51,465,429 RGD:9068941
G TLR3 toll like receptor 3 JBrowse link 16 44,617,012 44,633,591 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 27 38,641,837 38,654,693 RGD:9068941
G VDR vitamin D receptor JBrowse link 27 6,852,915 6,909,466 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
G VIM vimentin JBrowse link 2 19,671,316 19,679,367 RGD:9068941
G VWF von Willebrand factor JBrowse link 27 38,834,812 38,972,614 RGD:9068941
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KAT6B lysine acetyltransferase 6B JBrowse link 4 25,131,580 25,303,355 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 subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:7240710
RGD:9068941
brittle cornea syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 30 7,640,988 7,643,576 RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 19 19,129,418 19,327,377 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 5 64,887,534 64,903,553 RGD:9068941
Brittle Cornea Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM5 PR/SET domain 5 JBrowse link 19 19,129,418 19,327,377 RGD:9068941
G ZNF469 zinc finger protein 469 JBrowse link 5 64,887,534 64,903,553 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 19 19,129,418 19,327,377 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 3 32,361,825 32,713,631 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 20 40,519,121 40,550,305 RGD:9068941
G KRT2 keratin 2 JBrowse link 27 2,447,854 2,454,492 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 10 1,260,256 1,341,705 RGD:9068941
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELN elastin JBrowse link 6 6,299,524 6,331,425 RGD:9068941
G LEMD3 LEM domain containing 3 JBrowse link 10 7,775,995 7,833,895 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 16 8,222,909 8,318,179 RGD:7240710
RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 18 25,642,844 25,644,717 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 27 22,261,753 22,296,704 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 30 30,683,192 30,760,479 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 20 55,465,460 55,487,629 RGD:9068941
G PTPN11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 26 9,989,218 10,072,245 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 30 30,759,501 30,765,484 RGD:9068941
G TIPIN TIMELESS interacting protein JBrowse link 30 30,641,557 30,657,353 RGD:9068941
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 27 22,261,753 22,296,704 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 30 30,683,192 30,760,479 RGD:7240710
RGD:9068941
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 20 55,465,460 55,487,629 RGD:7240710
RGD:9068941
CEDNIK syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNAP29 synaptosome associated protein 29 JBrowse link 26 30,606,195 30,630,441 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 120,720,118 120,754,573 RGD:7240710
RGD:12801476
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 9 40,794,772 40,809,022 RGD:9068941
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 8 251,776 313,290 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 5 14,228,197 14,292,825 RGD:7240710
RGD:9068941
Clouston syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 54,078,694 54,515,535 RGD:12801476
G FOXI3 forkhead box I3 JBrowse link 17 38,032,479 38,036,424 RGD:12801476
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 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 29 20,951,736 21,000,956 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 251,985 322,081 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 20 21,772,147 21,873,545 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 7 58,159,283 58,239,018 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 8 9,004,641 9,327,054 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 1 110,173,781 110,191,612 RGD:9068941
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 33 5,446,022 5,459,152 RGD:9068941
Cranioectodermal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPAG17 sperm associated antigen 17 JBrowse link 17 55,248,136 55,468,036 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 17 14,976,662 15,034,918 RGD:7240710
RGD:9068941
Cranioectodermal Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 8 48,949,740 49,031,614 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 3 73,115,560 73,213,823 RGD:7240710
RGD:9068941
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G MME membrane metalloendopeptidase JBrowse link 23 48,966,222 49,059,919 RGD:9068941
G NLRC4 NLR family CARD domain containing 4 JBrowse link 17 25,517,051 25,518,224 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 8 251,776 313,290 RGD:9068941
G PLCG2 phospholipase C gamma 2 JBrowse link 5 70,054,683 70,233,459 RGD:9068941
G SLC6A5 solute carrier family 6 member 5 JBrowse link 21 42,581,931 42,639,870 RGD:12801476
cutaneous porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 46,703,477 46,731,767 RGD:9068941
G FECH ferrochelatase JBrowse link 1 18,352,184 18,384,251 RGD:9068941
G UROS uroporphyrinogen III synthase JBrowse link 28 34,952,074 34,983,532 RGD:7240710
RGD:9068941
cutis laxa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 6 27,800,060 27,849,170 RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 60,203,336 60,356,525 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 50,706,852 50,856,691 RGD:9068941
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 JBrowse link 18 51,389,797 51,396,109 RGD:9068941
G ELN elastin JBrowse link 6 6,299,524 6,331,425 RGD:9068941
G FBLN5 fibulin 5 JBrowse link 8 1,162,203 1,231,809 RGD:9068941
G LTBP4 latent transforming growth factor beta binding protein 4 JBrowse link 1 113,124,109 113,152,283 RGD:9068941
G PYCR1 pyrroline-5-carboxylate reductase 1 JBrowse link 9 360,353 364,795 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 18 42,221,311 42,229,992 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:7240710
RGD:9068941
G KRT10 keratin 10 JBrowse link 9 21,863,715 21,868,587 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 26 8,148,181 8,209,392 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 26 8,148,181 8,209,392 RGD:9068941
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 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 17 37,236,690 37,250,424 RGD:9068941
RGD:7240710
Diffuse Palmoplantar Keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT9 keratin 9 JBrowse link 9 21,204,213 21,210,793 RGD:9068941
Diffuse Palmoplantar Keratoderma, Bothnian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AQP5 aquaporin 5 JBrowse link 27 4,735,313 4,742,975 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 35 7,479,628 7,524,732 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 35 7,479,628 7,524,732 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 30 23,605,724 23,732,038 RGD:9068941
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:7240710
RGD:9068941
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 24 21,608,905 21,636,084 RGD:9068941
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 33 23,122,682 23,150,863 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 24 21,608,905 21,636,084 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 33 23,122,682 23,150,863 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 JBrowse link 37 25,760,478 25,767,753 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 JBrowse link 37 25,760,478 25,767,753 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 5 33,033,474 33,055,004 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 122,838,787 122,850,870 RGD:9068941
G GAR1 GAR1 ribonucleoprotein JBrowse link 32 29,995,710 30,004,545 RGD:9068941
G NHP2 NHP2 ribonucleoprotein JBrowse link 11 3,389,549 3,393,010 RGD:9068941
G PARN poly(A)-specific ribonuclease JBrowse link 6 28,629,137 28,783,671 RGD:9068941
G PFAS phosphoribosylformylglycinamidine synthase JBrowse link 5 33,055,144 33,076,823 RGD:9068941
G RTEL1 regulator of telomere elongation helicase 1 JBrowse link 24 47,219,977 47,248,791 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 8 4,221,183 4,223,863 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 7 42,762,021 42,785,192 RGD:9068941
G BMS1 BMS1 ribosome biogenesis factor JBrowse link 28 4,178,625 4,235,749 RGD:7240710
RGD:9068941
G EDA ectodysplasin A JBrowse link X 54,078,694 54,515,535 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 10 34,873,311 34,943,140 RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 4 3,608,545 3,659,357 RGD:9068941
G GJB6 gap junction protein beta 6 JBrowse link 25 17,912,036 17,922,310 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:9068941
G KRT16 keratin, type I cytoskeletal 16 JBrowse link 9 21,167,714 21,170,650 RGD:9068941
G KRT17 keratin 17 JBrowse link 9 21,155,007 21,161,407 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941
G NECTIN1 nectin cell adhesion molecule 1 JBrowse link 5 14,228,197 14,292,825 RGD:9068941
G PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) JBrowse link 7 1,921,143 1,966,910 RGD:9068941
G TP63 tumor protein p63 JBrowse link 34 21,766,861 21,985,095 RGD:9068941
Ectodermal Dysplasia 1, Anhidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 54,078,694 54,515,535 RGD:7240710
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 4 3,608,545 3,659,357 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 4 3,608,545 3,659,357 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 2 73,198,278 73,206,691 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 26 22,408,397 22,481,646 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 31 38,273,306 38,340,525 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 10 34,873,311 34,943,140 RGD:7240710
RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 4 3,608,545 3,659,357 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941
Ectodermal Dysplasia 4, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HOXC13 homeobox C13 JBrowse link 27 1,315,532 1,323,470 RGD:9068941
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 RGD:9068941
G KRT85 keratin 85 JBrowse link 27 2,706,246 2,713,688 RGD:7240710
RGD:9068941
Ectodermal Dysplasia 7, Hair/Nail Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT74 keratin 74 JBrowse link 27 2,519,244 2,528,107 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 27 1,315,532 1,323,470 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 8 14,100,203 14,103,453 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 5 80,864,859 80,912,136 RGD:7240710
RGD:9068941
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 RGD:9068941
G PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) JBrowse link 7 1,921,143 1,966,910 RGD:12801476
RGD:9068941
RGD:7240710
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECTIN4 nectin cell adhesion molecule 4 JBrowse link 38 21,378,144 21,392,419 RGD:7240710
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 13 3,204,898 3,362,533 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 34 21,766,861 21,985,095 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 14 19,883,731 19,919,527 RGD:9068941
EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 34 21,766,861 21,985,095 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 11 2,279,983 2,504,630 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 11 3,497,860 3,507,513 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 9 26,183,852 26,199,927 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 14 19,883,731 19,919,527 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 36 30,488,250 30,526,367 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 50,706,852 50,856,691 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 36 30,538,863 30,677,450 RGD:9068941
G DCN decorin JBrowse link 15 31,833,492 31,887,699 RGD:9068941
G LOX lysyl oxidase JBrowse link 11 12,023,645 12,040,015 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
G SLC39A13 solute carrier family 39 member 13 JBrowse link 18 42,221,311 42,229,992 RGD:9068941
G TNXB tenascin XB JBrowse link 12 1,453,227 1,510,171 RGD:9068941
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNXB tenascin XB JBrowse link 12 1,453,227 1,510,171 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 5 56,421,687 56,423,120 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 11 3,497,860 3,507,513 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 36 30,488,250 30,526,367 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 36 30,538,863 30,677,450 RGD:9068941
G SLC40A1 solute carrier family 40 member 1 JBrowse link 37 308,054 329,037 RGD:9068941
G WDR75 WD repeat domain 75 JBrowse link 37 157,400 191,127 RGD:9068941
Ehlers-Danlos Syndrome Type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFN2 mitofusin 2 JBrowse link 2 84,284,719 84,310,715 RGD:9068941
G MYBPC3 myosin binding protein C, cardiac JBrowse link 18 42,271,159 42,288,782 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:7240710
RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 7 1,598,306 1,620,531 RGD:9068941
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 26 17,293,334 17,330,156 RGD:9068941
Ehlers-Danlos Syndrome Type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1R complement C1r JBrowse link 27 37,951,137 37,960,687 RGD:9068941
RGD:7240710
G C1S complement C1s JBrowse link 27 37,976,196 37,985,846 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 14 19,883,731 19,919,527 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 RGD:9068941
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 30 7,640,988 7,643,576 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 1 56,787,809 56,868,037 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 27 37,951,137 37,960,687 RGD:9068941
G C1S complement C1s JBrowse link 27 37,976,196 37,985,846 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 5 56,421,687 56,423,120 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 13 62,133,747 62,169,349 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 9 26,183,852 26,199,927 RGD:7240710
RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 14 19,883,731 19,919,527 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 50,706,852 50,856,691 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 36 30,538,863 30,677,450 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 11 2,279,983 2,504,630 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 34 13,915,763 13,959,574 RGD:9068941
G EVC EvC ciliary complex subunit 1 JBrowse link 3 70,937,957 71,007,431 RGD:7240710
RGD:9068941
G EVC2 EvC ciliary complex subunit 2 JBrowse link 3 70,809,649 70,935,391 RGD:7240710
RGD:9068941
G TRAF3IP1 TRAF3 interacting protein 1 JBrowse link 25 48,782,448 48,836,993 RGD:9068941
G WDR35 WD repeat domain 35 JBrowse link 17 14,976,662 15,034,918 RGD:9068941
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 16 27,029,902 27,080,514 RGD:9068941
RGD:7240710
epidermolysis bullosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXPH5 exophilin 5 JBrowse link 5 24,006,577 24,078,136 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 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 20 40,519,121 40,550,305 RGD:12801476
RGD:9068941
RGD:7240710
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 5 28,978,385 28,986,644 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 20 40,519,121 40,550,305 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 20 40,519,121 40,550,305 RGD:7240710
RGD:9068941
epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 12 23,715,637 24,195,220 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:7240710
RGD:9068941
G KLHL24 kelch like family member 24 JBrowse link 34 16,583,683 16,625,778 RGD:9068941
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:7240710
RGD:9068941
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:7240710
RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G PLEC plectin JBrowse link 13 37,449,379 37,503,752 RGD:12801476
RGD:9068941
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:9068941
RGD:7240710
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:9068941
RGD:7240710
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLEC plectin JBrowse link 13 37,449,379 37,503,752 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 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 13 37,449,379 37,503,752 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 13 37,449,379 37,503,752 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 13 37,449,379 37,503,752 RGD:7240710
RGD:9068941
Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DST dystonin JBrowse link 12 23,715,637 24,195,220 RGD:9068941
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:7240710
RGD:9068941
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 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 12 23,715,637 24,195,220 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 34 16,583,683 16,625,778 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 20 40,519,121 40,550,305 RGD:7240710
RGD:9068941
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 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 5 24,006,577 24,078,136 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 20 40,519,121 40,550,305 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 15 7,193,183 7,195,586 RGD:9068941
G JUP junction plakoglobin JBrowse link 9 21,028,773 21,053,071 RGD:9068941
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:7240710
RGD:9068941
G KRT10 keratin 10 JBrowse link 9 21,863,715 21,868,587 RGD:12801476
RGD:9068941
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:9068941
epidermolytic palmoplantar keratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:7240710
RGD:9068941
G KRT16 keratin, type I cytoskeletal 16 JBrowse link 9 21,167,714 21,170,650 RGD:9068941
G KRT9 keratin 9 JBrowse link 9 21,204,213 21,210,793 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 9 21,204,213 21,210,793 RGD:9068941
erythrokeratodermia variabilis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:7240710
RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 15 7,193,183 7,195,586 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 15 7,193,183 7,195,586 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 1 60,941,772 60,944,694 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 1 13,682,838 13,726,872 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 15 7,175,010 7,177,145 RGD:9068941
Erythrokeratodermia with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 12 40,845,357 40,876,658 RGD:9068941
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG2 ATP binding cassette subfamily G member 2 JBrowse link 32 11,443,778 11,517,674 RGD:9068941
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 46,703,477 46,731,767 RGD:9068941
G AREG amphiregulin JBrowse link 13 62,925,761 62,936,753 RGD:9068941
G BTC betacellulin JBrowse link 15 64,133,051 64,159,155 RGD:9068941
G EREG epiregulin JBrowse link 13 62,857,325 62,877,831 RGD:9068941
G FECH ferrochelatase JBrowse link 1 18,352,184 18,384,251 RGD:7240710
RGD:9068941
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 30 29,515,907 29,560,318 RGD:9068941
RGD:7240710
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAS2 5'-aminolevulinate synthase 2 JBrowse link X 46,703,477 46,731,767 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 33 25,477,789 25,489,123 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 25 49,165,450 49,216,545 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 1 30,247,432 30,262,992 RGD:9068941
RGD:7240710
familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100855742 NACHT, LRR and PYD domains-containing protein 12-like JBrowse link 1 103,571,756 103,605,692 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 8 251,776 313,290 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 8 251,776 313,290 RGD:7240710
RGD:9068941
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100855742 NACHT, LRR and PYD domains-containing protein 12-like JBrowse link 1 103,571,756 103,605,692 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 5 70,054,683 70,233,459 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 17 25,517,051 25,518,224 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 34 19,398,310 19,410,519 RGD:9068941
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 9 34,804,285 34,984,640 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 11 17,311,238 17,551,536 RGD:9068941
G HAS2 hyaluronan synthase 2 JBrowse link 13 20,310,946 20,342,647 RGD:12801476
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 24 11,656,926 11,693,146 RGD:9068941
G MEFV MEFV innate immuity regulator, pyrin JBrowse link 6 37,964,776 37,984,830 RGD:7240710
RGD:9068941
G NOD2 nucleotide binding oligomerization domain containing 2 JBrowse link 2 64,636,850 64,667,232 RGD:9068941
G PKHD1 PKHD1, fibrocystin/polyductin JBrowse link 12 19,280,866 19,744,669 RGD:9068941
G POMC proopiomelanocortin JBrowse link 17 19,431,396 19,438,247 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 27 38,612,206 38,638,212 RGD:9068941
G SERPINA1 serpin family A member 1 JBrowse link 8 63,388,498 63,400,377 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 RGD:9068941
G THBD thrombomodulin JBrowse link 24 599,773 601,649 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 27 38,641,837 38,654,693 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 6 37,964,776 37,984,830 RGD:7240710
RGD:9068941
focal dermal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PORCN porcupine O-acyltransferase JBrowse link X 41,763,126 41,773,892 RGD:7240710
RGD:9068941
Focal Facial Dermal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 28 7,416,022 7,424,173 RGD:9068941
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 JBrowse link 28 7,416,022 7,424,173 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 18 42,221,311 42,229,992 RGD:9068941
Gerodermia Osteodysplastica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GORAB golgin, RAB6 interacting JBrowse link 7 28,220,679 28,241,035 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 30 20,633,576 20,706,240 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 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 30 20,633,576 20,706,240 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 25 48,121,499 48,167,535 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 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 23 28,097,831 28,233,675 RGD:7240710
RGD:9068941
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 33 5,446,022 5,459,152 RGD:9068941
HELIX syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN10 claudin 10 JBrowse link 22 46,098,671 46,225,239 RGD:9068941
RGD:7240710
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALAD aminolevulinate dehydratase JBrowse link 11 67,736,643 67,752,399 RGD:9068941
G CPOX coproporphyrinogen oxidase JBrowse link 33 5,446,022 5,459,152 RGD:9068941
G FECH ferrochelatase JBrowse link 1 18,352,184 18,384,251 RGD:9068941
G HMBS hydroxymethylbilane synthase JBrowse link 5 14,767,306 14,775,205 RGD:9068941
G PPOX protoporphyrinogen oxidase JBrowse link 38 21,306,973 21,310,892 RGD:9068941
G UROD uroporphyrinogen decarboxylase JBrowse link 15 15,313,808 15,317,130 RGD:9068941
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UROD uroporphyrinogen decarboxylase JBrowse link 15 15,313,808 15,317,130 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 17 25,517,051 25,518,224 RGD:9068941
G TNFAIP3 TNF alpha induced protein 3 JBrowse link 1 30,247,432 30,262,992 RGD:9068941
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPOX coproporphyrinogen oxidase JBrowse link 33 5,446,022 5,459,152 RGD:7240710
RGD:9068941
hereditary mucosal leukokeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT13 keratin 13 JBrowse link 9 21,261,233 21,265,564 RGD:7240710
RGD:9068941
G KRT73 keratin 73 JBrowse link 27 2,477,859 2,488,437 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 3 28,481,974 28,748,095 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 1 110,325,351 110,328,226 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 3 58,822,405 58,823,770 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 35 7,860,336 7,998,461 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 30 11,861,119 11,949,451 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 9 37,817,409 37,823,852 RGD:9068941
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 19 38,874,650 38,877,740 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 RGD:9068941
G HPS4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 26 20,131,658 20,157,532 RGD:9068941
G HPS5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 21 40,725,089 40,770,665 RGD:9068941
G HPS6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 28 14,614,434 14,617,138 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 20 44,480,634 44,489,287 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 21 11,769,924 11,823,546 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 8 4,244,731 4,250,836 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 19 4,289,792 4,379,060 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 1 110,328,448 110,339,394 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 26 7,090,669 7,119,913 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 20 56,893,479 56,932,460 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 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 20 56,893,479 56,932,460 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 3 28,481,974 28,748,095 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 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 26 20,131,658 20,157,532 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 21 40,725,089 40,770,665 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 28 14,614,434 14,617,138 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 35 14,738,025 14,862,609 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 1 110,325,351 110,328,226 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 30 11,861,119 11,949,451 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 17 51,711,267 51,716,806 RGD:9068941
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 122,838,787 122,850,870 RGD:9068941
G TERT telomerase reverse transcriptase JBrowse link 34 11,288,622 11,307,790 RGD:9068941
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT16 keratin, type I cytoskeletal 16 JBrowse link 9 21,167,714 21,170,650 RGD:9068941
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDA ectodysplasin A JBrowse link X 54,078,694 54,515,535 RGD:9068941
G EDAR ectodysplasin A receptor JBrowse link 10 34,873,311 34,943,140 RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 4 3,608,545 3,659,357 RGD:9068941
G IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 RGD:9068941
G TRAF6 TNF receptor associated factor 6 JBrowse link 18 31,674,242 31,689,160 RGD:9068941
G WNT10A Wnt family member 10A JBrowse link 37 25,463,064 25,475,407 RGD:9068941
Hypohidrotic Ectodermal Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDAR ectodysplasin A receptor JBrowse link 10 34,873,311 34,943,140 RGD:7240710
RGD:9068941
G EDARADD EDAR associated death domain JBrowse link 4 3,608,545 3,659,357 RGD:9068941
G LOC474539 E3 SUMO-protein ligase RanBP2 JBrowse link 10 35,088,175 35,181,248 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 subunit gamma JBrowse link X 122,232,052 122,253,499 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 subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:9068941
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 17 61,217,915 61,233,068 RGD:7240710
RGD:9068941
G LBR lamin B receptor JBrowse link 7 39,289,517 39,309,026 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 9 26,065,792 26,095,649 RGD:7240710
RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 8 33,616,735 33,642,434 RGD:9068941
G PSMB8 proteasome subunit beta 8 JBrowse link 12 2,419,456 2,422,832 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 30 9,869,769 10,006,994 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 28 16,349,926 16,402,213 RGD:9068941
G ITGA6 integrin subunit alpha 6 JBrowse link 36 16,777,363 16,858,725 RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:9068941
G LAMA3 laminin subunit alpha 3 JBrowse link 7 64,405,719 64,654,910 RGD:12801476
RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 7 8,272,326 8,313,322 RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 7 16,543,541 16,625,304 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 36 16,777,363 16,858,725 RGD:9068941
G LAMA3 laminin subunit alpha 3 JBrowse link 7 64,405,719 64,654,910 RGD:7240710
RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 7 8,272,326 8,313,322 RGD:7240710
RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 7 16,543,541 16,625,304 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 28 16,349,926 16,402,213 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:7240710
RGD:9068941
G LAMA3 laminin subunit alpha 3 JBrowse link 7 64,405,719 64,654,910 RGD:7240710
RGD:9068941
G LAMB3 laminin subunit beta 3 JBrowse link 7 8,272,326 8,313,322 RGD:7240710
RGD:9068941
G LAMC2 laminin subunit gamma 2 JBrowse link 7 16,543,541 16,625,304 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 9 4,818,558 4,824,845 RGD:9068941
G ITGA6 integrin subunit alpha 6 JBrowse link 36 16,777,363 16,858,725 RGD:7240710
RGD:9068941
G ITGB4 integrin subunit beta 4 JBrowse link 9 4,825,148 4,855,266 RGD:7240710
RGD:9068941
G PLEC plectin JBrowse link 13 37,449,379 37,503,752 RGD:9068941
Keratolytic Winter Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSB cathepsin B JBrowse link 25 26,048,237 26,056,570 RGD:9068941
RGD:7240710
keratosis follicularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANXA1 annexin A1 JBrowse link 1 84,744,159 84,763,011 RGD:9068941
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 26 8,148,181 8,209,392 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 17,655,295 17,718,960 RGD:7240710
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 25 11,064,065 11,080,878 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG1 desmoglein 1 JBrowse link 7 58,159,283 58,239,018 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 35 7,479,628 7,524,732 RGD:7240710
RGD:9068941
Keratosis Palmoplantaris Striata 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 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 9 4,211,951 4,240,253 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 21 11,659,296 11,692,957 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 10 1,260,256 1,341,705 RGD:9068941
RGD:7240710
Kindler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FERMT1 fermitin family member 1 JBrowse link 24 15,748,632 15,785,025 RGD:9068941
RGD:7240710
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial JBrowse link X 60,192,698 60,197,547 RGD:7240710
RGD:9068941
lipoid proteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ECM1 extracellular matrix protein 1 JBrowse link 17 59,696,125 59,701,990 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 24 3,345,221 3,563,716 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 13 36,789,738 36,791,013 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 6 8,705,294 8,711,285 RGD:7240710
RGD:9068941
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRP C-reactive protein JBrowse link 38 22,396,787 22,398,180 RGD:9068941
G MMAB metabolism of cobalamin associated B JBrowse link 26 17,519,158 17,531,200 RGD:9068941
G MVK mevalonate kinase JBrowse link 26 17,497,516 17,519,015 RGD:7240710
RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
Michelin Tire Baby Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUBB tubulin beta class I JBrowse link 12 512,738 517,154 RGD:9068941
monilethrix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT83 keratin 83 JBrowse link 27 2,746,175 2,752,472 RGD:7240710
RGD:9068941
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G NLRP3 NLR family pyrin domain containing 3 JBrowse link 8 251,776 313,290 RGD:7240710
RGD:9068941
Muir-Torre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FHIT fragile histidine triad JBrowse link 20 29,735,380 31,113,859 RGD:9068941
G MLH1 mutL homolog 1 JBrowse link 23 6,889,108 6,938,117 RGD:7240710
RGD:9068941
G MSH2 mutS homolog 2 JBrowse link 10 49,517,448 49,594,001 RGD:7240710
RGD:9068941
Naegeli Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14