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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 IAGP 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 8:144,373,088...144,393,242
Ensembl chr 8:144,373,101...144,393,242 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor IAGP 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 8:144,262,045...144,291,438
Ensembl chr 8:144,262,045...144,291,438 		JBrowse link
G CCDC166 coiled-coil domain containing 166 IAGP 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 8:143,706,694...143,708,109
Ensembl chr 8:143,706,694...143,708,109 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 IAGP 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 8:144,393,231...144,409,335
Ensembl chr 8:144,393,229...144,409,335 		JBrowse link
G CYC1 cytochrome c1 IAGP 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 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IAGP 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 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta IAGP 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 8:143,579,728...143,597,415
Ensembl chr 8:143,579,697...143,599,541 		JBrowse link
G EPPK1 epiplakin 1 IAGP 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 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467 		JBrowse link
G EXOSC4 exosome component 4 IAGP 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 8:144,064,056...144,080,648
Ensembl chr 8:144,078,648...144,080,648 		JBrowse link
G FAM83H family with sequence similarity 83 member H IAGP 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 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 IAGP 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 8:144,355,431...144,358,472
Ensembl chr 8:144,355,431...144,359,376 		JBrowse link
G FOXH1 forkhead box H1 IAGP 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 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GFUS GDP-L-fucose synthase IAGP 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 8:143,612,618...143,618,048
Ensembl chr 8:143,612,618...143,618,048 		JBrowse link
G GLI4 GLI family zinc finger 4 IAGP 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 8:143,267,445...143,276,931
Ensembl chr 8:143,267,433...143,276,931 		JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,834,801...142,846,851
Ensembl chr 8:142,834,247...142,916,506 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP 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 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP 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 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GPT glutamic--pyruvic transaminase IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 IAGP 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 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415 		JBrowse link
G GSDMD gasdermin D IAGP 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 8:143,553,387...143,563,062
Ensembl chr 8:143,553,207...143,563,062 		JBrowse link
G HGH1 HGH1 homolog IAGP 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 8:144,137,774...144,140,851
Ensembl chr 8:144,137,774...144,140,851 		JBrowse link
G HSF1 heat shock transcription factor 1 IAGP 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 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720 		JBrowse link
G KIFC2 kinesin family member C2 IAGP 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 8:144,466,049...144,474,202
Ensembl chr 8:144,466,043...144,474,202 		JBrowse link
G LOC121331314 Sharpr-MPRA regulatory region 8265 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,940,221...143,940,515 JBrowse link
G LOC130001334 ATAC-STARR-seq lymphoblastoid silent region 19628 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 More... NCBI chr 8:143,933,758...143,934,037 JBrowse link
G LOC130001337 ATAC-STARR-seq lymphoblastoid silent region 19630 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,939,214...143,939,313 JBrowse link
G LOC130001338 ATAC-STARR-seq lymphoblastoid active region 28078 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy		 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,939,334...143,939,573 JBrowse link
G LOC130001339 ATAC-STARR-seq lymphoblastoid silent region 19631 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,939,594...143,939,823 JBrowse link
G LOC130001340 ATAC-STARR-seq lymphoblastoid active region 28079 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,939,984...143,940,043 JBrowse link
G LOC130001341 ATAC-STARR-seq lymphoblastoid silent region 19632 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,942,071...143,942,160 JBrowse link
G LOC130001342 ATAC-STARR-seq lymphoblastoid silent region 19633 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,942,381...143,942,840 JBrowse link
G LOC130001343 ATAC-STARR-seq lymphoblastoid active region 28080 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,943,061...143,943,310 JBrowse link
G LOC130001344 ATAC-STARR-seq lymphoblastoid silent region 19634 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:25640679 More... NCBI chr 8:143,943,911...143,944,180 JBrowse link
G LY6D lymphocyte antigen 6 family member D IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,784,882...142,786,539
Ensembl chr 8:142,784,882...142,786,539 		JBrowse link
G LY6E lymphocyte antigen 6 family member E IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,018,529...143,022,409
Ensembl chr 8:143,017,982...143,023,832 		JBrowse link
G LY6H lymphocyte antigen 6 family member H IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,157,916...143,160,654
Ensembl chr 8:143,157,914...143,160,711 		JBrowse link
G LY6S-AS1 LY6S antisense RNA 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:143,039,209...143,054,303
Ensembl chr 8:143,039,209...143,060,684 		JBrowse link
G LYNX1 Ly6/neurotoxin 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,771,197...142,777,872
Ensembl chr 8:142,771,197...142,777,810 		JBrowse link
G LYPD2 LY6/PLAUR domain containing 2 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,750,150...142,752,532
Ensembl chr 8:142,750,150...142,752,532 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III IAGP 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 8:144,104,461...144,107,611
Ensembl chr 8:144,104,420...144,107,611 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP 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 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 IAGP 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 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458 		JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,509,070...144,511,213
Ensembl chr 8:144,509,070...144,511,213 		JBrowse link
G MIR1234 microRNA 1234 IAGP 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 8:144,400,086...144,400,165
Ensembl chr 8:144,400,086...144,400,165 		JBrowse link
G MIR661 microRNA 661 IAGP 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 8:143,945,191...143,945,279
Ensembl chr 8:143,945,191...143,945,279 		JBrowse link
G MROH1 maestro heat like repeat family member 1 IAGP 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 8:144,148,016...144,261,926
Ensembl chr 8:144,148,016...144,261,927 		JBrowse link
G MROH6 maestro heat like repeat family member 6 IAGP 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 8:143,566,192...143,572,772
Ensembl chr 8:143,566,192...143,572,772 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase IAGP 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 8:143,572,874...143,578,330
Ensembl chr 8:143,574,785...143,578,649 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 IAGP 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 8:143,829,776...143,840,973
Ensembl chr 8:143,833,583...143,840,973 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP 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 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 IAGP 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 8:143,977,158...144,012,764
Ensembl chr 8:143,977,153...144,012,772 		JBrowse link
G PLEC plectin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
ClinVar Annotator: match by term: Epidermolysis bullosa simplex with 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
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
OMIM:226670
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,477,982...144,502,121
Ensembl chr 8:144,477,969...144,502,121 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP 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 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 IAGP 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 8:143,603,210...143,609,575
Ensembl chr 8:143,603,210...143,609,773 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 IAGP 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 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221 		JBrowse link
G SCRIB scribble planar cell polarity protein IAGP 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 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 IAGP 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 8:144,330,565...144,336,482
Ensembl chr 8:144,330,565...144,336,482 		JBrowse link
G SCX scleraxis bHLH transcription factor IAGP 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 8:144,266,453...144,268,481
Ensembl chr 8:144,266,453...144,268,481 		JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP 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 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP 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 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP 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 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 IAGP ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 IAGP 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 8:144,010,977...144,047,114
Ensembl chr 8:144,012,280...144,047,114 		JBrowse link
G TIGD5 tigger transposable element derived 5 IAGP 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 8:143,597,831...143,603,224
Ensembl chr 8:143,597,831...143,603,224 		JBrowse link
G TMEM249 transmembrane protein 249 IAGP 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 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP 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 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial IAGP 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 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I IAGP 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 8:144,423,617...144,428,548
Ensembl chr 8:144,423,601...144,428,563 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 IAGP 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 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447 		JBrowse link
G ZFP41 ZFP41 zinc finger protein IAGP 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 8:143,246,939...143,262,705
Ensembl chr 8:143,246,821...143,262,705 		JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 IAGP 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 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871 		JBrowse link
G ZNF623 zinc finger protein 623 IAGP 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 8:143,636,019...143,653,730
Ensembl chr 8:143,636,019...143,656,418 		JBrowse link
G ZNF696 zinc finger protein 696 IAGP 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 8:143,291,417...143,299,952
Ensembl chr 8:143,289,676...143,299,952 		JBrowse link
G ZNF707 zinc finger protein 707 IAGP 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 8:143,684,479...143,695,385
Ensembl chr 8:143,684,452...143,713,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      epidermolysis bullosa simplex with muscular dystrophy 78
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  atrophic muscular disease 856
                    muscular dystrophy 852
                      limb-girdle muscular dystrophy 273
                        epidermolysis bullosa simplex with muscular dystrophy 78
paths to the root