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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 chr 1:6,890,751...6,900,370 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 chr 6:17,061,289...17,074,930
Ensembl chr 6:17,061,621...17,074,794 		JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr21:35,148,265...35,218,256
Ensembl chr21:35,148,043...35,218,160 		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 chr 6:17,061,289...17,074,930
Ensembl chr 6:17,061,621...17,074,794 		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 chr21:35,148,265...35,218,256
Ensembl chr21:35,148,043...35,218,160 		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 chr 1:6,890,751...6,900,370 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 chr21:35,148,265...35,218,256
Ensembl chr21:35,148,043...35,218,160 		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 chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269 		JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr11:109,952,100...109,966,328
Ensembl chr11:109,952,054...109,965,065 		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 chr  X:59,453,157...59,861,555 JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:56,527,838...56,574,646
Ensembl chr  X:56,531,860...56,574,448 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr11:104,812,882...104,837,089
Ensembl chr11:104,813,846...104,835,517 		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 chr14:12,320,653...12,412,191
Ensembl chr14:12,320,719...12,411,855 		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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:11,962,757...12,026,045
Ensembl chr14:11,963,689...12,027,503 		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 chr14:12,059,347...12,210,779
Ensembl chr14:12,059,411...12,213,064 		JBrowse link
G LOC103241211 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,860,065...11,882,111
Ensembl chr14:11,861,211...11,871,767 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		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 chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,709,266...11,731,318
Ensembl chr14:11,711,120...11,732,613 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,621,851...11,638,719
Ensembl chr14:11,622,043...11,636,652 		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 chr14:12,320,653...12,412,191
Ensembl chr14:12,320,719...12,411,855 		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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:11,962,757...12,026,045
Ensembl chr14:11,963,689...12,027,503 		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 chr14:12,059,347...12,210,779
Ensembl chr14:12,059,411...12,213,064 		JBrowse link
G LOC103241211 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,860,065...11,882,111
Ensembl chr14:11,861,211...11,871,767 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		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 chr14:11,346,281...11,373,754
Ensembl chr14:11,347,861...11,370,297 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 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 chr14:11,709,266...11,731,318
Ensembl chr14:11,711,120...11,732,613 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr14:11,621,851...11,638,719
Ensembl chr14:11,622,043...11,636,652 		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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		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 chr20:105,803,540...105,814,461
Ensembl chr20:105,811,182...105,816,004 		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 chr 1:8,244,483...8,246,551
Ensembl chr 1:8,244,485...8,245,968 		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 chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		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 chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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 chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		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 chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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 chr24:11,580,379...11,708,320
Ensembl chr24:11,581,164...11,706,292 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:11,541,226...11,545,690
Ensembl chr24:11,543,638...11,544,335 		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 chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		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 chr24:11,901,522...11,935,764
Ensembl chr24:11,900,604...11,935,560 		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 chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:12,099,804...12,127,477
Ensembl chr24:12,099,937...12,127,309 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675 		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 chr20:3,590,044...3,606,205
Ensembl chr20:3,590,725...3,606,066 		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 chr 6:30,655,162...30,656,587
Ensembl chr 6:30,655,243...30,656,584 		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 chr24:50,394,310...50,476,521
Ensembl chr24:50,405,590...50,472,132 		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 chr20:3,590,044...3,606,205
Ensembl chr20:3,590,725...3,606,066 		JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr24:50,394,310...50,476,521
Ensembl chr24:50,405,590...50,472,132 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 6:30,655,162...30,656,587
Ensembl chr 6:30,655,243...30,656,584 		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 chr 3:74,239,087...74,379,699
Ensembl chr 3:74,352,400...74,377,978 		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 chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299 		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 chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557 		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 chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670 		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 chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324 		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 chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G IL17D interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr 3:401,525...421,725 JBrowse link
G LCN2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 5:2,971,323...2,991,501 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr26:6,260,509...6,302,717
Ensembl chr26:6,260,349...6,302,673 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155
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 chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		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 chr11:46,190,504...46,195,461 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 chr 3:18,034,004...18,170,050
Ensembl chr 3:18,034,066...18,130,060 		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 chr  X:59,453,157...59,861,555 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 chr14:12,430,405...12,527,160
Ensembl chr14:12,433,418...12,468,841 		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 chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038 		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 chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 1:28,726,357...28,752,389
Ensembl chr 1:28,734,380...28,747,092 		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 chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		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 chr11:26,089,480...26,574,621
Ensembl chr11:26,089,484...26,574,950 		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 chr26:20,162,706...20,221,680
Ensembl chr26:20,162,926...20,224,502 		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 chr 1:54,318,746...54,374,361
Ensembl chr 1:54,316,334...54,373,619 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr29:21,543,572...21,563,229
Ensembl chr29:21,546,064...21,562,558 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar
G ASMTL acetylserotonin O-methyltransferase like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar
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 chr21:109,495,525...109,690,261 JBrowse link
G CCDC28A coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:34,596,584...34,615,633 JBrowse link
G CDCA2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:23,582,062...23,631,590
Ensembl chr 8:23,582,744...23,632,045 		JBrowse link
G CDCP1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr22:6,559,500...6,619,952
Ensembl chr22:6,557,046...6,619,827 		JBrowse link
G CELF4 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:43,314,960...43,635,301
Ensembl chr18:43,603,021...43,624,537 		JBrowse link
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:78,703,815...78,752,183 JBrowse link
G CLSPN claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:97,096,529...97,132,305 JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:41,226,972...41,294,742
Ensembl chr12:41,227,349...41,295,468 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:98,118,948...98,330,435
Ensembl chr12:98,118,603...98,330,471 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr 1:58,170,494...58,204,156
Ensembl chr 1:58,184,591...58,205,962 		JBrowse link
G EHBP1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:43,971,400...44,293,615
Ensembl chr14:43,971,261...44,292,365 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:19,227,209...19,305,789
Ensembl chr17:19,277,593...19,307,625 		JBrowse link
G EPHB6 EPH receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:111,742,236...111,750,349
Ensembl chr21:111,742,268...111,752,179 		JBrowse link
G ETV5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:3,313,331...3,376,024
Ensembl chr15:3,316,585...3,373,708 		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 chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592 		JBrowse link
G FAM168B family with sequence similarity 168 member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:26,545,048...26,992,346
Ensembl chr 7:26,700,869...26,954,352 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GRIN3A glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:37,700,311...37,865,390
Ensembl chr12:37,701,039...37,867,041 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:29,275,462...29,674,966
Ensembl chr10:29,293,207...29,548,585 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:44,540,036...44,552,396
Ensembl chr 6:44,540,363...44,547,711 		JBrowse link
G HIVEP1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:59,987,718...60,143,296 JBrowse link
G HRH2 histamine receptor H2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr23:77,808,108...77,858,936
Ensembl chr23:77,807,998...77,841,467 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:1,419,432...1,523,342
Ensembl chr 5:1,415,664...1,521,843 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:17,054,915...17,149,119
Ensembl chr20:17,055,617...17,149,166 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:10,037,176...10,085,499 JBrowse link
G ITGAL integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:27,157,866...27,206,802
Ensembl chr 5:27,157,878...27,206,714 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:45,926,543...45,962,967 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G LARP4B La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:778,786...898,263 JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117 		JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:2,081,234...2,103,094
Ensembl chr 6:2,082,224...2,084,002 		JBrowse link
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		JBrowse link
G LOC103220313 formimidoyltransferase-cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238 		JBrowse link
G LOC103221203 RNA-binding protein 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:7,604,440...7,638,536 JBrowse link
G LOC103234688 dual specificity tyrosine-phosphorylation-regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:34,361,467...34,370,292
Ensembl chr 6:34,357,449...34,368,067 		JBrowse link
G LOC103235056 testis-specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:42,903,240...42,927,192
Ensembl chr 6:42,903,266...42,927,014 		JBrowse link
G LOC103235268 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:47,164,970...47,174,509 JBrowse link
G LOC103237730 epiplakin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:138,072,057...138,086,757 JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr29:23,236,863...23,243,192
Ensembl chr29:23,236,539...23,242,638 		JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:123,632,545...123,806,348
Ensembl chr10:123,707,283...123,809,140 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:11,334,639...11,355,391
Ensembl chr 6:11,334,752...11,355,334 		JBrowse link
G MFHAS1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:10,158,951...10,268,286
Ensembl chr 8:10,159,421...10,268,323 		JBrowse link
G MLXIPL MLX interacting protein like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr28:9,442,520...9,465,772 JBrowse link
G MMP26 matrix metallopeptidase 26 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:61,826,835...61,832,152
Ensembl chr 1:61,827,321...61,831,374 		JBrowse link
G MRRF mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:17,266,365...17,330,768
Ensembl chr12:17,263,882...17,330,341 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:94,574,010...94,935,348 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr29:23,131,273...23,137,470
Ensembl chr29:23,131,453...23,137,245 		JBrowse link
G PACSIN2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:25,412,627...25,553,919
Ensembl chr19:25,412,394...25,435,169 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:78,172,890...78,180,901
Ensembl chr20:78,178,634...78,180,061 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:29,225,265...29,291,868
Ensembl chr13:29,283,405...29,291,868 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292 		JBrowse link
G PTGFR prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:54,660,329...54,706,212
Ensembl chr20:54,659,197...54,704,452 		JBrowse link
G PTPN21 protein tyrosine phosphatase non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr24:66,102,081...66,191,918
Ensembl chr24:66,101,788...66,187,987 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:26,130,667...26,165,415
Ensembl chr 5:26,131,512...26,168,514 		JBrowse link
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr23:35,375,206...35,458,801
Ensembl chr23:35,375,305...35,458,622 		JBrowse link
G RBM12B RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:88,704,297...88,712,569
Ensembl chr 8:88,704,951...88,707,956 		JBrowse link
G RECQL5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:46,013,100...46,052,713
Ensembl chr16:46,013,092...46,056,167 		JBrowse link
G RPL36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:5,347,618...5,348,818 JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:20,860,062...20,924,628
Ensembl chr 5:20,891,416...20,924,819 		JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:6,939,231...6,948,831
Ensembl chr16:6,940,281...6,949,221 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:50,782,713...50,793,816
Ensembl chr 6:50,781,544...50,792,515 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:15,591,795...15,665,837
Ensembl chr 8:15,638,113...15,660,487 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:27,814,944...27,879,692
Ensembl chr19:27,815,442...27,879,640 		JBrowse link
G SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:18,585,965...18,896,161
Ensembl chr16:18,737,158...18,893,994 		JBrowse link
G SPEN spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:116,359,981...116,458,156
Ensembl chr20:116,361,008...116,458,064 		JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:85,600,171...85,662,732
Ensembl chr20:85,604,539...85,662,333 		JBrowse link
G STON1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:58,486,165...58,548,812
Ensembl chr14:58,486,191...58,545,775
Ensembl chr14:58,486,191...58,545,775 		JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:12,267,591...12,333,181
Ensembl chr 1:12,267,685...12,333,185 		JBrowse link
G TANGO6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:58,326,128...58,570,184
Ensembl chr 5:58,323,925...58,570,165 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr24:67,672,178...67,762,340 JBrowse link
G TENM3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:127,231,840...128,792,832
Ensembl chr 7:128,598,835...128,795,211 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:28,947,414...29,044,215
Ensembl chr 8:28,947,423...28,991,634 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr26:20,688,048...21,140,585
Ensembl chr26:20,691,779...20,940,450 		JBrowse link
G TMCC3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:89,964,934...90,216,835
Ensembl chr11:89,969,260...89,979,591 		JBrowse link
G TMEM121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr24:83,423,123...83,426,704
Ensembl chr24:83,425,352...83,426,302 		JBrowse link
G TNKS1BP1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:15,919,439...15,944,851
Ensembl chr 1:15,922,482...15,945,460 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:105,020,972...105,072,660 JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:53,829,168...53,944,178
Ensembl chr 5:53,828,117...53,944,136 		JBrowse link
G VIPR2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:126,917,862...127,022,834
Ensembl chr21:126,917,880...127,022,758 		JBrowse link
G YLPM1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr24:51,975,723...52,048,936
Ensembl chr24:51,975,767...52,076,365 		JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:27,749,292...27,761,905
Ensembl chr 5:27,749,164...27,752,954 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103243443 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome OMIM
ClinVar		 PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 NCBI chr16:64,654,988...64,660,327
Ensembl chr16:64,655,807...64,660,319 		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 chr 7:60,096,755...60,233,569
Ensembl chr 7:60,202,204...60,236,743 		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 chr15:83,861,489...84,126,675 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    sensory system disease 6898
      skin disease 4049
        sweat gland disease 150
          Fox-Fordyce disease 0
          Hyperhidrosis + 6
          Sweat Gland Neoplasms + 97
          hidradenitis + 12
          hypohidrosis + 35
          miliaria + 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Neurologic Manifestations 9796
          sensory system disease 6898
            skin disease 4049
              sweat gland disease 150
                Fox-Fordyce disease 0
                Hyperhidrosis + 6
                Sweat Gland Neoplasms + 97
                hidradenitis + 12
                hypohidrosis + 35
                miliaria + 0
                pompholyx 0
paths to the root