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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:sweat gland disease
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Accession:DOID:1383 term browser browse the term
Definition:A skin disease located_in the sweat glands. (DO)
Synonyms:exact_synonym: sweat gland diseases
 narrow_synonym: apocrine sweat gland disease
 primary_id: MESH:D013543
 xref: EFO:1000772;   EFO:1002046;   ICD10CM:L74.9;   ICD9CM:705.9
For additional species annotation, visit the Alliance of Genome Resources.

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cold-induced sweating syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939 		JBrowse link
G Crlf1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death ClinVar PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131 		JBrowse link
G Klhl7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131 		JBrowse link
G Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820 PMID:20400119 PMID:25741868 NCBI chrNW_004936599:2,372,889...2,376,316
Ensembl chrNW_004936599:2,372,031...2,376,939 		JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004936674:466,495...528,072
Ensembl chrNW_004936674:466,456...530,317 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004936558:7,230,361...7,243,651
Ensembl chrNW_004936558:7,230,668...7,244,361 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766
Ensembl chrNW_004936635:1,303,858...1,337,868 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,946,442...8,948,320 JBrowse link
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,443,176...9,467,697 JBrowse link
Familial Acne Inversa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition OMIM
ClinVar		 PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
Familial Acne Inversa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psenen presenilin enhancer, gamma-secretase subunit ISO ClinVar Annotator: match by term: Acne inversa, familial, 2 OMIM
ClinVar		 PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 More... NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		JBrowse link
Familial Acne Inversa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Acne inversa, familial, 3 OMIM
ClinVar		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065 		JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncstn nicastrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936740:285,789...301,918
Ensembl chrNW_004936740:285,657...302,111 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936488:2,464,623...2,528,807
Ensembl chrNW_004936488:2,464,527...2,530,065 		JBrowse link
G Psenen presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chrNW_004936472:14,205,311...14,308,932
Ensembl chrNW_004936472:14,207,681...14,308,932 		JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis OMIM
ClinVar		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chrNW_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677 		JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Il17d interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chrNW_004936720:1,005,111...1,029,613
Ensembl chrNW_004936720:1,005,101...1,029,617 		JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chrNW_004936487:15,721,752...15,725,396
Ensembl chrNW_004936487:15,721,684...15,728,221 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718 		JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004936471:35,272,263...35,294,942
Ensembl chrNW_004936471:35,272,137...35,313,154 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Hyperhidrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:erythrocyte: RGD PMID:16718367 RGD:9479745 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
hypohidrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp5 aquaporin 5 ISO RGD PMID:11773623 RGD:70240 NCBI chrNW_004936512:7,639,518...7,643,242
Ensembl chrNW_004936512:7,639,668...7,642,756 		JBrowse link
G Cog6 component of oligomeric golgi complex 6 ISO ClinVar Annotator: match by term: Hypohidrosis ClinVar PMID:23606727 PMID:25558065 PMID:25741868 NCBI chrNW_004936565:5,996,031...6,069,517
Ensembl chrNW_004936565:5,996,270...6,069,426 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
G Edar ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
isolated anhidrosis with normal sweat glands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr2 inositol 1,4,5-trisphosphate receptor type 2 ISO ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands OMIM
ClinVar		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888 		JBrowse link
isolated hyperchlorhidrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Isolated hyperchlorhidrosis OMIM
ClinVar		 PMID:21035102 PMID:21184099 PMID:25741868 PMID:26911677 PMID:28492532 NCBI chrNW_004936471:23,876,889...23,929,720
Ensembl chrNW_004936471:23,876,812...23,929,987 		JBrowse link
myoepithelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd3 adenosine monophosphate deaminase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936528:7,847,156...7,891,585
Ensembl chrNW_004936528:7,848,096...7,890,627 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936880:277,002...293,489
Ensembl chrNW_004936880:274,488...292,742 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675 		JBrowse link
G Asmtl acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936644:3,775,940...3,789,377 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936757:1,195,604...1,249,367
Ensembl chrNW_004936757:1,195,567...1,248,237 		JBrowse link
G Cdcp1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936695:657,934...705,447
Ensembl chrNW_004936695:657,865...706,186 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936500:7,774,962...7,816,658
Ensembl chrNW_004936500:7,774,597...7,816,702 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936474:18,267,740...18,304,658
Ensembl chrNW_004936474:18,268,984...18,300,211 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936472:2,270,836...2,416,324
Ensembl chrNW_004936472:2,270,819...2,416,349 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936524:6,819,641...6,845,854
Ensembl chrNW_004936524:6,820,063...6,848,371 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936680:2,842,930...3,020,757
Ensembl chrNW_004936680:2,842,547...3,021,058 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chrNW_004936842:677,416...697,013
Ensembl chrNW_004936842:677,416...697,003 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936491:7,875,119...8,176,559
Ensembl chrNW_004936491:7,875,014...8,177,654 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936476:7,536,635...7,618,271 JBrowse link
G Ephb6 EPH receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936527:330,034...345,166
Ensembl chrNW_004936527:329,990...345,167 		JBrowse link
G Etv5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936578:3,795,000...3,854,269
Ensembl chrNW_004936578:3,794,982...3,854,140 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		JBrowse link
G Fam168b family with sequence similarity 168 member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936469:41,472,044...41,503,222
Ensembl chrNW_004936469:41,470,957...41,504,623 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936778:375,800...390,764
Ensembl chrNW_004936778:375,800...390,554 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936471:39,791,633...40,193,049
Ensembl chrNW_004936471:39,791,613...40,187,923 		JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936524:9,720,777...9,884,984
Ensembl chrNW_004936524:9,720,767...9,885,120 		JBrowse link
G Gtdc1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936469:32,514,679...32,791,418
Ensembl chrNW_004936469:32,539,891...32,790,374 		JBrowse link
G Has1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004937026:125,622...132,141
Ensembl chrNW_004937026:125,881...135,235 		JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936534:1,002,801...1,133,522
Ensembl chrNW_004936534:1,002,719...1,133,544 		JBrowse link
G Hrh2 histamine receptor H2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936609:624,446...664,049
Ensembl chrNW_004936609:622,311...664,084 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936489:11,447,043...11,523,695
Ensembl chrNW_004936489:11,447,038...11,524,174 		JBrowse link
G Igsf3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936627:1,738,140...1,826,255
Ensembl chrNW_004936627:1,737,337...1,826,757 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936580:3,511,364...3,553,441
Ensembl chrNW_004936580:3,511,311...3,553,756 		JBrowse link
G Itgal integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936501:12,921,509...12,966,791
Ensembl chrNW_004936501:12,922,642...12,966,663 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936594:912,302...944,819
Ensembl chrNW_004936594:912,291...946,012 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936484:13,238,456...13,302,962
Ensembl chrNW_004936484:13,238,528...13,299,448 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879 		JBrowse link
G Leng9 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936886:173,534...176,144 JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936588:1,368,048...1,372,364
Ensembl chrNW_004936588:1,369,707...1,371,485 		JBrowse link
G LOC101961294 epiplakin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936470:8,308,135...8,317,259 JBrowse link
G LOC106144891 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936517:8,010,133...8,010,721 JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936722:1,421,396...1,427,439
Ensembl chrNW_004936722:1,419,259...1,427,497 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936525:593,048...663,066
Ensembl chrNW_004936525:593,054...662,958 		JBrowse link
G Man2b1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936659:1,776,212...1,793,651
Ensembl chrNW_004936659:1,774,773...1,793,670 		JBrowse link
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936573:1,567,798...1,662,442 JBrowse link
G Mlxipl MLX interacting protein like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936543:2,839,105...2,856,997
Ensembl chrNW_004936543:2,839,105...2,857,002 		JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936487:10,649,395...10,700,211
Ensembl chrNW_004936487:10,649,373...10,702,001 		JBrowse link
G Napsa napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936889:204,337...216,795
Ensembl chrNW_004936889:204,384...208,110 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936535:1,139,687...1,467,469
Ensembl chrNW_004936535:1,140,178...1,467,471 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936498:1,358,598...1,438,041
Ensembl chrNW_004936498:1,359,285...1,438,382 		JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936722:1,524,116...1,528,659 JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936718:739,133...850,775
Ensembl chrNW_004936718:739,133...801,662 		JBrowse link
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936522:6,516,562...6,523,167
Ensembl chrNW_004936522:6,516,609...6,525,686 		JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936625:2,214,023...2,265,101
Ensembl chrNW_004936625:2,248,907...2,263,001 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936660:2,575,255...2,622,867
Ensembl chrNW_004936660:2,575,360...2,622,852 		JBrowse link
G Ptgfr prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936571:5,235,678...5,274,417
Ensembl chrNW_004936571:5,235,687...5,274,432 		JBrowse link
G Ptpn21 protein tyrosine phosphatase non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936488:15,922,624...15,996,997
Ensembl chrNW_004936488:15,923,833...15,995,142 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936501:11,807,369...11,818,350
Ensembl chrNW_004936501:11,806,836...11,817,838 		JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chrNW_004936647:2,546,100...2,637,524
Ensembl chrNW_004936647:2,543,599...2,637,846 		JBrowse link
G Rbm12b RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936544:6,872,032...6,887,813
Ensembl chrNW_004936544:6,872,336...6,875,155 		JBrowse link
G Recql5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936594:829,296...862,615
Ensembl chrNW_004936594:828,475...862,912 		JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936588:3,264,356...3,265,255
Ensembl chrNW_004936588:3,264,356...3,265,244 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936501:7,932,729...7,958,146
Ensembl chrNW_004936501:7,932,703...7,958,204 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936595:844,073...850,951
Ensembl chrNW_004936595:844,023...850,949 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004937062:90,217...98,562
Ensembl chrNW_004937062:89,664...98,113 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936629:4,315,401...4,389,318
Ensembl chrNW_004936629:4,315,401...4,389,069 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936821:641,863...914,188
Ensembl chrNW_004936821:641,852...914,208 		JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936474:3,473,892...3,535,307
Ensembl chrNW_004936474:3,473,901...3,534,628 		JBrowse link
G Stil STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936474:28,079,114...28,131,214
Ensembl chrNW_004936474:28,079,492...28,131,198 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936508:4,068,102...4,116,166
Ensembl chrNW_004936508:4,065,711...4,116,652 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936581:1,516,199...1,557,992
Ensembl chrNW_004936581:1,512,855...1,559,679 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936475:19,072,480...19,250,768
Ensembl chrNW_004936475:19,072,539...19,250,428 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936488:17,237,002...17,311,325
Ensembl chrNW_004936488:17,236,703...17,311,310 		JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936554:6,180,883...6,871,178
Ensembl chrNW_004936554:6,183,722...6,619,982 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936792:668,290...727,197
Ensembl chrNW_004936792:668,290...686,241 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936471:23,073,267...23,479,286
Ensembl chrNW_004936471:23,135,006...23,479,288 		JBrowse link
G Tmcc3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936507:10,886,187...10,905,945
Ensembl chrNW_004936507:10,886,202...11,095,457 		JBrowse link
G Tnks1bp1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936581:5,158,424...5,182,099
Ensembl chrNW_004936581:5,158,353...5,182,109 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936664:3,093,258...3,124,473
Ensembl chrNW_004936664:3,093,367...3,124,117 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
G Tsks testis specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936664:3,539,553...3,555,315
Ensembl chrNW_004936664:3,539,553...3,555,315 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936778:1,576,580...1,660,344
Ensembl chrNW_004936778:1,478,617...1,660,331 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936475:22,842,333...22,944,680
Ensembl chrNW_004936475:22,842,248...22,944,690 		JBrowse link
G Vipr2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936856:859,009...866,239 JBrowse link
G Ylpm1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936488:3,922,314...3,997,187
Ensembl chrNW_004936488:3,922,308...3,997,930 		JBrowse link
G Znf668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004936501:13,423,491...13,442,329
Ensembl chrNW_004936501:13,422,989...13,426,060 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257 		JBrowse link
Sweat Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    sensory system disease 6652
      skin disease 3912
        sweat gland disease 143
          Fox-Fordyce disease 0
          Hyperhidrosis + 6
          Sweat Gland Neoplasms + 94
          hidradenitis + 11
          hypohidrosis + 32
          miliaria + 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      nervous system disease 12594
        Neurologic Manifestations 9401
          sensory system disease 6652
            skin disease 3912
              sweat gland disease 143
                Fox-Fordyce disease 0
                Hyperhidrosis + 6
                Sweat Gland Neoplasms + 94
                hidradenitis + 11
                hypohidrosis + 32
                miliaria + 0
                pompholyx 0
paths to the root