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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_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155 		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_004624908:1,752,773...1,762,272
Ensembl chrNW_004624908:1,752,779...1,762,244 		JBrowse link
G Klhl7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624739:7,470,304...7,534,886
Ensembl chrNW_004624739:7,470,306...7,535,166 		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_004624908:1,752,773...1,762,272
Ensembl chrNW_004624908:1,752,779...1,762,244 		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_004624739:7,470,304...7,534,886
Ensembl chrNW_004624739:7,470,306...7,535,166 		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_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155 		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_004624739:7,470,304...7,534,886
Ensembl chrNW_004624739:7,470,306...7,535,166 		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_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004624735:39,095,559...39,153,936
Ensembl chrNW_004624735:39,092,781...39,153,920 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004624747:18,128,003...18,142,366
Ensembl chrNW_004624747:18,128,028...18,142,451 		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_004624891:55,310...489,072
Ensembl chrNW_004624891:58,991...488,788 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004624898:643,941...679,421
Ensembl chrNW_004624898:657,924...676,365 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004624747:10,837,743...10,858,758
Ensembl chrNW_004624747:10,834,306...10,857,595 		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_004624749:11,924,869...11,974,072
Ensembl chrNW_004624749:11,924,803...11,973,743 		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_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		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_004624749:11,670,493...11,709,830
Ensembl chrNW_004624749:11,670,475...11,710,053 		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_004624749:11,720,492...11,846,571 JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 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_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		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_004624749:11,347,602...11,371,113
Ensembl chrNW_004624749:11,347,609...11,371,330 		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_004624749:11,924,869...11,974,072
Ensembl chrNW_004624749:11,924,803...11,973,743 		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_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		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_004624749:11,670,493...11,709,830
Ensembl chrNW_004624749:11,670,475...11,710,053 		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_004624749:11,720,492...11,846,571 JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 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_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		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_004624749:11,347,602...11,371,113
Ensembl chrNW_004624749:11,347,609...11,371,330 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		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_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 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_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		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_004624764:10,927,426...10,936,771
Ensembl chrNW_004624764:10,927,931...10,936,670 		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_004624767:20,423,007...20,424,773
Ensembl chrNW_004624767:20,422,390...20,424,690 		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_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		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_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		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_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		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_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		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_004624838:1,907,825...2,007,089
Ensembl chrNW_004624838:1,908,527...2,007,052 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004624838:2,032,658...2,036,893
Ensembl chrNW_004624838:2,031,895...2,037,728 		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_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		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_004624838:1,627,632...1,655,079
Ensembl chrNW_004624838:1,627,873...1,657,475 		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_004624838:1,449,362...1,474,597
Ensembl chrNW_004624838:1,449,266...1,486,382 		JBrowse link
G Srp54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004624838:1,697,863...1,747,115
Ensembl chrNW_004624838:1,697,863...1,747,136 		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_004624794:908,227...923,474
Ensembl chrNW_004624794:905,857...924,003 		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_004624794:10,053,085...10,054,411
Ensembl chrNW_004624794:10,053,114...10,054,411 		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_004624734:28,200,358...28,272,684
Ensembl chrNW_004624734:28,200,140...28,272,743 		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_004624794:908,227...923,474
Ensembl chrNW_004624794:905,857...924,003 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004624734:28,200,358...28,272,684
Ensembl chrNW_004624734:28,200,140...28,272,743 		JBrowse link
G Psenen presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chrNW_004624794:10,053,085...10,054,411
Ensembl chrNW_004624794:10,053,114...10,054,411 		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_004624879:2,178,896...2,298,905
Ensembl chrNW_004624879:2,179,142...2,298,924 		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_004624885:3,039,711...3,042,702
Ensembl chrNW_004624885:3,039,256...3,042,362 		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_004624885:1,971,442...1,987,595
Ensembl chrNW_004624885:1,971,345...1,987,231 		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_004624885:1,989,027...2,005,474
Ensembl chrNW_004624885:1,989,138...2,005,577 		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_004624885:1,951,442...1,960,292
Ensembl chrNW_004624885:1,952,387...1,960,424 		JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936 		JBrowse link
G Il17d interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004624937:564,191...584,470 JBrowse link
G Nod2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chrNW_004624894:1,369,242...1,400,765
Ensembl chrNW_004624894:1,368,455...1,400,340 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		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_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		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_004624816:2,326,059...2,329,525
Ensembl chrNW_004624816:2,326,010...2,329,544 		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_004624748:444,784...520,804 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_004624891:55,310...489,072
Ensembl chrNW_004624891:58,991...488,788 		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_004624749:11,981,782...11,998,933
Ensembl chrNW_004624749:11,983,550...11,998,918 		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_004624775:14,132,455...14,191,604
Ensembl chrNW_004624775:14,132,710...14,191,423 		JBrowse link
G LOC101698338 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624749:11,862,670...11,923,291
Ensembl chrNW_004624749:11,862,760...11,923,958 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chrNW_004624767:10,729,766...10,803,253
Ensembl chrNW_004624767:10,729,413...10,748,455 		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_004624823:6,126,238...6,140,764
Ensembl chrNW_004624823:6,128,256...6,140,235 		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_004624752:12,360,796...12,820,042
Ensembl chrNW_004624752:12,360,740...12,822,287 		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_004624781:9,140,753...9,195,651
Ensembl chrNW_004624781:9,140,837...9,196,400 		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_004624766:2,542,021...2,586,912
Ensembl chrNW_004624766:2,545,932...2,587,025 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624885:1,314,885...1,362,730
Ensembl chrNW_004624885:1,311,512...1,362,730 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624825:7,067,010...7,084,928
Ensembl chrNW_004624825:7,067,138...7,084,663 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042 		JBrowse link
G Asmtl acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624834:660,932...675,471
Ensembl chrNW_004624834:660,803...675,505 		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_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624753:15,157,509...15,185,253
Ensembl chrNW_004624753:15,157,391...15,185,029 		JBrowse link
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624758:20,490,902...20,537,171
Ensembl chrNW_004624758:20,491,118...20,538,653 		JBrowse link
G Cdcp1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624730:75,490,278...75,518,744
Ensembl chrNW_004624730:75,493,350...75,516,730 		JBrowse link
G Celf4 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624779:11,443,993...11,731,208
Ensembl chrNW_004624779:11,452,545...11,731,251 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624745:22,807,618...22,861,521
Ensembl chrNW_004624745:22,816,292...22,861,613 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624764:18,773,495...18,805,772
Ensembl chrNW_004624764:18,773,261...18,805,853 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624793:2,201,815...2,325,002
Ensembl chrNW_004624793:2,202,244...2,324,507 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624825:2,682,632...2,749,202
Ensembl chrNW_004624825:2,712,489...2,749,806 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208 		JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624925:40,175...56,177
Ensembl chrNW_004624925:46,748...55,481 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624762:10,391,139...10,752,562
Ensembl chrNW_004624762:10,392,088...10,751,055 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624850:523,059...598,135
Ensembl chrNW_004624850:522,018...597,469 		JBrowse link
G Ephb6 EPH receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624800:12,069,977...12,076,992
Ensembl chrNW_004624800:12,069,908...12,074,669 		JBrowse link
G Etv5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624730:70,631,654...70,699,768
Ensembl chrNW_004624730:70,631,637...70,699,863 		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_004624753:7,536,654...7,680,671
Ensembl chrNW_004624753:7,548,694...7,677,472 		JBrowse link
G Fam168b family with sequence similarity 168 member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624732:15,110,730...15,149,464
Ensembl chrNW_004624732:15,110,730...15,149,866 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624757:12,529,475...12,973,751
Ensembl chrNW_004624757:12,532,466...12,972,918 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624745:31,279,868...31,288,600
Ensembl chrNW_004624745:31,276,314...31,289,063 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624896:962,253...1,173,842
Ensembl chrNW_004624896:966,487...1,173,625 		JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624758:9,579,750...9,756,396
Ensembl chrNW_004624758:9,579,752...9,756,525 		JBrowse link
G Gtdc1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624732:43,629,144...44,044,616
Ensembl chrNW_004624732:43,646,458...43,909,842 		JBrowse link
G Has1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:3,327,626...3,341,928
Ensembl chrNW_004624832:3,329,920...3,336,290 		JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624756:13,968,588...14,094,716
Ensembl chrNW_004624756:13,968,483...14,094,872 		JBrowse link
G Hrh2 histamine receptor H2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624733:14,261,799...14,308,320
Ensembl chrNW_004624733:14,260,720...14,308,217 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Igsf3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624772:12,263,495...12,354,379
Ensembl chrNW_004624772:12,263,123...12,354,321 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624885:3,403,614...3,442,170
Ensembl chrNW_004624885:3,401,899...3,442,227 		JBrowse link
G Itgal integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624782:13,635,217...13,671,401
Ensembl chrNW_004624782:13,640,996...13,669,541 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624801:5,613,752...5,646,046
Ensembl chrNW_004624801:5,613,861...5,650,214 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456 		JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624775:10,055,200...10,149,178
Ensembl chrNW_004624775:10,083,476...10,145,712 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919 		JBrowse link
G Leng9 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:2,276,555...2,278,335 JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624828:6,592,941...6,609,698
Ensembl chrNW_004624828:6,592,957...6,609,665 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624820:9,645,954...9,652,296
Ensembl chrNW_004624820:9,645,954...9,652,289 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624847:2,993,251...3,095,611
Ensembl chrNW_004624847:2,993,291...3,094,961 		JBrowse link
G Man2b1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624901:285,981...307,177
Ensembl chrNW_004624901:285,978...307,249 		JBrowse link
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624839:4,908,861...5,000,218
Ensembl chrNW_004624839:4,908,639...5,000,677 		JBrowse link
G Mlxipl MLX interacting protein like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624740:14,150,425...14,187,687
Ensembl chrNW_004624740:14,168,238...14,187,264 		JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624760:12,974,428...13,032,016
Ensembl chrNW_004624760:12,971,493...13,032,291 		JBrowse link
G Napsa napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:4,150,415...4,158,399
Ensembl chrNW_004624832:4,150,298...4,162,432 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624817:4,896,066...4,963,440
Ensembl chrNW_004624817:4,924,827...4,963,436 		JBrowse link
G Oxa1l OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624820:9,757,615...9,763,686
Ensembl chrNW_004624820:9,757,840...9,763,640 		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_004624752:5,927,096...6,041,458
Ensembl chrNW_004624752:5,950,890...6,041,466 		JBrowse link
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624862:5,084,676...5,093,914
Ensembl chrNW_004624862:5,087,783...5,092,422 		JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624753:10,292,050...10,359,424
Ensembl chrNW_004624753:10,292,038...10,359,480 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624747:28,024,230...28,068,390
Ensembl chrNW_004624747:28,024,975...28,068,344 		JBrowse link
G Ptgfr prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624742:18,723,558...19,031,578
Ensembl chrNW_004624742:18,723,458...18,768,083 		JBrowse link
G Ptpn21 protein tyrosine phosphatase non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624734:13,801,739...13,866,825
Ensembl chrNW_004624734:13,802,165...13,863,058 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624782:12,856,701...12,867,414
Ensembl chrNW_004624782:12,855,583...12,867,411 		JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chrNW_004624733:39,445,083...39,544,415
Ensembl chrNW_004624733:39,447,461...39,544,409 		JBrowse link
G Rbm12b RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624763:726,665...1,219,697
Ensembl chrNW_004624763:1,205,130...1,212,409 		JBrowse link
G Recql5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624801:5,530,411...5,568,355
Ensembl chrNW_004624801:5,530,992...5,567,628 		JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624828:4,512,260...4,513,895
Ensembl chrNW_004624828:4,511,511...4,513,995 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624776:14,290,186...14,395,303
Ensembl chrNW_004624776:14,290,198...14,460,046 		JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624782:8,424,192...8,452,686
Ensembl chrNW_004624782:8,424,270...8,452,824 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624786:10,179,604...10,187,416
Ensembl chrNW_004624786:10,179,557...10,187,416 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:84,456...92,706
Ensembl chrNW_004624832:84,552...92,556 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624769:21,678,084...21,757,168
Ensembl chrNW_004624769:21,681,709...21,757,213 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624752:4,255,829...4,320,257
Ensembl chrNW_004624752:4,255,897...4,320,665 		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_004624877:4,499,581...4,886,580 JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624764:2,058,689...2,144,640
Ensembl chrNW_004624764:2,058,773...2,143,640 		JBrowse link
G Stil STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624859:5,510,442...5,572,122
Ensembl chrNW_004624859:5,510,384...5,572,228 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624738:29,747,179...29,803,676
Ensembl chrNW_004624738:29,785,501...29,803,752 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624926:722,201...765,834
Ensembl chrNW_004624926:722,224...765,033 		JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624746:17,257,788...17,476,029
Ensembl chrNW_004624746:17,254,573...17,476,097 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624734:12,319,499...12,414,815
Ensembl chrNW_004624734:12,331,710...12,414,784 		JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624769:12,831,899...13,579,957
Ensembl chrNW_004624769:13,104,585...13,579,136 		JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624780:13,198,569...13,297,189
Ensembl chrNW_004624780:13,198,592...13,298,703 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624825:1,773,158...1,899,120
Ensembl chrNW_004624825:1,839,178...1,899,156 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624781:9,626,031...10,030,427
Ensembl chrNW_004624781:9,623,413...9,965,960 		JBrowse link
G Tmcc3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624750:12,186,314...12,404,661
Ensembl chrNW_004624750:12,338,033...12,400,385 		JBrowse link
G Tmem121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624734:26,878...29,713
Ensembl chrNW_004624734:27,105...28,058 		JBrowse link
G Tnks1bp1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624864:3,262,973...3,280,099
Ensembl chrNW_004624864:3,266,082...3,280,246 		JBrowse link
G Trpm4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:4,902,335...4,937,806
Ensembl chrNW_004624832:4,902,659...4,936,926 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
G Tsks testis specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624832:4,546,999...4,561,777
Ensembl chrNW_004624832:4,546,432...4,560,970 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624745:30,186,498...30,232,200
Ensembl chrNW_004624745:30,183,218...30,232,182 		JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624746:12,889,010...12,992,318
Ensembl chrNW_004624746:12,888,208...12,992,397 		JBrowse link
G Vipr2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624800:125,732...188,200
Ensembl chrNW_004624800:125,686...180,590 		JBrowse link
G Ylpm1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624734:26,865,617...26,932,670
Ensembl chrNW_004624734:26,867,550...26,932,469 		JBrowse link
G Znf668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chrNW_004624782:14,114,438...14,125,715
Ensembl chrNW_004624782:14,116,605...14,121,994 		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_004624838:6,273,398...6,288,363
Ensembl chrNW_004624838:6,229,899...6,287,920 		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_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    sensory system disease 6504
      skin disease 3813
        sweat gland disease 141
          Fox-Fordyce disease 0
          Hyperhidrosis + 6
          Sweat Gland Neoplasms + 94
          hidradenitis + 11
          hypohidrosis + 30
          miliaria + 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        Neurologic Manifestations 9152
          sensory system disease 6504
            skin disease 3813
              sweat gland disease 141
                Fox-Fordyce disease 0
                Hyperhidrosis + 6
                Sweat Gland Neoplasms + 94
                hidradenitis + 11
                hypohidrosis + 30
                miliaria + 0
                pompholyx 0
paths to the root