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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:epidermolysis bullosa simplex with muscular dystrophy
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Accession:DOID:0090017 term browser browse the term
Definition:An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: EBS5B;   EBSMD;   MD-EBS;   MDEBS;   epidermolysis bullosa simplex 5B with muscular dystrophy;   epidermolysis bullosa simplex and limb-girdle muscular dystrophy;   limb-girdle muscular dystrophy with epidermolysis bullosa simplex
 related_synonym: epidermolysa bullosa simplex and limb girdle muscular dystrophy
 primary_id: MESH:C535955
 alt_id: OMIM:226670
 xref: ORDO:257


show annotations for term's descendants           Sort by:
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,683,749...106,712,802
Ensembl chr 7:106,689,410...106,712,724 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,962,194...107,965,372
Ensembl chr 7:107,962,207...107,965,366 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,542,489...107,547,051
Ensembl chr 7:107,542,083...107,547,055 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,643,225...106,644,733
Ensembl chr 7:106,643,232...106,644,733 		JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,935,530...106,939,689
Ensembl chr 7:106,935,761...106,939,689 		JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:107,258,779...107,261,270
Ensembl chr 7:107,258,779...107,261,454 		JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,632,800...106,638,003
Ensembl chr 7:106,632,797...106,638,023 		JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,617,561...106,619,598
Ensembl chr 7:106,617,561...106,619,598 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,798,642...107,805,225
Ensembl chr 7:107,799,497...107,805,230 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec plectin ISO
ISS		 ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:226670		 OMIM
ClinVar
CTD
MouseDO		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,391,664...108,414,812
Ensembl chr 7:108,391,656...108,419,509 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:106,611,949...106,613,365
Ensembl chr 7:106,611,949...106,613,365 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      epidermolysis bullosa simplex with muscular dystrophy 64
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  atrophic muscular disease 604
                    muscular dystrophy 600
                      limb-girdle muscular dystrophy 198
                        epidermolysis bullosa simplex with muscular dystrophy 64
paths to the root