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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.


show annotations for term's descendants           Sort by:
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 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692 		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 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720 		JBrowse link
G KLHL7 kelch like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695 		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 2:59,222,551...59,233,723
Ensembl chr 2:59,222,367...59,233,720 		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 chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695 		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 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692 		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 chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695 		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 chr 5:15,049,827...15,091,622 JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766 		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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 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 chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		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 chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		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 chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		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 chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		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 chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		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 chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 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 chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		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 chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		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 chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		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 chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		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 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated 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 chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		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 chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041 		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 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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 chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473 		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 chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		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 chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		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 chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		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 chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890 		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 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102 		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 chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130 		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 chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890 		JBrowse link
G PSEN1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 7:96,478,179...96,567,884
Ensembl chr 7:96,478,190...96,569,130 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102 		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 chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072 		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 chr 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		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 chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		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 chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		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 chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		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 chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498 		JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G IL17D interleukin 17D sexual_dimorphism ISO mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G LCN2 lipocalin 2 disease_progression ISO RGD PMID:28256718 RGD:126781708 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415 		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 chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		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 chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067 		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 chr11:14,576,194...14,737,836
Ensembl chr11:14,576,214...14,649,795 		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:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		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 chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 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 chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072 		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 chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		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 chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125 		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 chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		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 2:49,026,695...49,084,982
Ensembl chr 2:49,028,923...49,083,590 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:78,043,995...78,067,546
Ensembl chr 7:78,042,057...78,064,913 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226 		JBrowse link
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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CCDC28A coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:25,646,997...25,663,277
Ensembl chr 1:25,647,000...25,663,273 		JBrowse link
G CDCA2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:9,517,763...9,571,303
Ensembl chr14:9,518,201...9,566,588 		JBrowse link
G CDCP1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:28,258,593...28,319,365
Ensembl chr13:28,257,417...28,319,215 		JBrowse link
G CELF4 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:121,065,604...121,381,052
Ensembl chr 6:121,066,772...121,381,028 		JBrowse link
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:198,250,702...198,303,830
Ensembl chr13:198,251,119...198,303,857 		JBrowse link
G CLSPN claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:91,906,325...91,968,070
Ensembl chr 6:91,906,320...91,967,901 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:239,947,299...240,000,964
Ensembl chr 1:239,947,301...240,000,918 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:27,724,644...27,954,708
Ensembl chr10:27,724,648...27,954,350 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:48,305,837...48,314,523
Ensembl chr 6:48,305,849...48,314,514 		JBrowse link
G EHBP1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:78,907,315...79,261,890
Ensembl chr 3:78,907,317...79,257,760 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:46,860,768...46,932,945
Ensembl chr 7:46,860,770...46,932,926 		JBrowse link
G EPHB6 EPH receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:7,346,793...7,419,859
Ensembl chr18:7,346,565...7,389,504 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563 		JBrowse link
G ETV5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:123,873,346...123,930,292
Ensembl chr13:123,873,350...123,930,200 		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 chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
G FAM168B family with sequence similarity 168 member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:57,375,164...57,419,257
Ensembl chr15:57,375,167...57,419,054 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623 		JBrowse link
G GRIN3A glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:243,263,202...243,416,739
Ensembl chr 1:243,259,495...243,415,590 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:7,685,969...8,162,784
Ensembl chr15:7,757,935...8,051,594 		JBrowse link
G HAS1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:58,303,274...58,313,486
Ensembl chr 6:58,302,799...58,313,486 		JBrowse link
G HIVEP1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:8,515,856...8,661,686
Ensembl chr 7:8,515,901...8,661,151 		JBrowse link
G HRH2 histamine receptor H2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:81,883,670...81,932,464
Ensembl chr 2:81,883,673...81,932,275 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:104,044,784...104,167,173
Ensembl chr 4:103,994,390...104,166,988 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:95,904,072...95,944,805
Ensembl chr 4:95,905,150...95,944,809 		JBrowse link
G ITGAL integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		JBrowse link
G LARP4B La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:68,621,596...68,707,894 JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604 		JBrowse link
G LENG9 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:58,857,625...58,860,471
Ensembl chr 6:58,857,800...58,860,442 		JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:76,264,077...76,280,627
Ensembl chr 2:76,264,071...76,280,623 		JBrowse link
G LOC100622826 keratin-associated protein 10-3-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:207,403,140...207,404,529 JBrowse link
G LOC100625088 182 kDa tankyrase-1-binding protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:76,149,304...76,159,397
Ensembl chr 7:76,149,307...76,158,891 		JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:137,283,262...137,439,383
Ensembl chr15:137,283,276...137,439,385 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056 		JBrowse link
G MFHAS1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:56,200,455...56,296,151
Ensembl chr15:56,200,455...56,295,064 		JBrowse link
G MLXIPL MLX interacting protein like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048 		JBrowse link
G MRRF mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:262,355,994...262,416,116
Ensembl chr 1:262,353,032...262,418,243 		JBrowse link
G NAPSA napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:55,221,203...55,230,609
Ensembl chr 6:55,221,205...55,230,449 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:80,303,172...80,669,050
Ensembl chr 8:80,312,234...80,668,412 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:76,234,710...76,266,700
Ensembl chr 7:76,230,889...76,266,429 		JBrowse link
G PACSIN2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:5,853,377...5,985,174
Ensembl chr 5:5,853,377...5,985,169 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:157,588,985...157,595,175
Ensembl chr 6:157,589,024...157,595,171 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:21,299,830...21,371,070
Ensembl chr 1:21,364,696...21,370,614 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:92,091,763...92,145,386
Ensembl chr 3:92,092,635...92,109,713 		JBrowse link
G PTGFR prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:134,727,334...134,777,067
Ensembl chr 6:134,727,343...134,777,072 		JBrowse link
G PTPN21 protein tyrosine phosphatase non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:110,374,915...110,453,820
Ensembl chr 7:110,373,530...110,453,812 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925 		JBrowse link
G RAD50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189 		JBrowse link
G RBM12B RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:42,946,857...42,971,191
Ensembl chr 4:42,946,778...42,958,842 		JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337 		JBrowse link
G RECQL5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:5,732,336...5,770,136
Ensembl chr12:5,732,348...5,770,133 		JBrowse link
G RPL36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:73,286,906...73,288,512
Ensembl chr 2:73,286,903...73,288,489 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:22,977,940...23,013,384
Ensembl chr 3:22,977,947...23,013,384 		JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:52,857,463...52,867,583
Ensembl chr12:52,765,187...52,867,576 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:63,068,880...63,075,246
Ensembl chr 6:63,065,830...63,075,202 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395 		JBrowse link
G SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:59,466,778...59,705,602
Ensembl chr12:59,466,791...59,654,192 		JBrowse link
G SPEN spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:75,015,565...75,107,468
Ensembl chr 6:75,015,521...75,107,033 		JBrowse link
G STIL STIL centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:164,197,511...164,266,615
Ensembl chr 6:164,197,600...164,265,818 		JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:9,947,962...10,012,713
Ensembl chr 2:9,947,925...10,012,496 		JBrowse link
G TANGO6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:17,870,050...18,071,555
Ensembl chr 6:17,869,929...18,071,522 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249 		JBrowse link
G TENM3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:41,818,190...44,401,747
Ensembl chr15:43,540,375...44,399,711 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:54,210,139...54,277,609 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:109,208,663...109,680,663
Ensembl chr 1:109,208,672...109,584,727 		JBrowse link
G TMCC3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:88,409,560...88,682,328
Ensembl chr 5:88,438,365...88,682,319 		JBrowse link
G TMEM121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
G TSKS testis specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:54,762,173...54,785,211
Ensembl chr 6:54,761,193...54,779,952 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,801...13,791,241 		JBrowse link
G VIPR2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:396,379...466,408
Ensembl chr18:396,263...518,102 		JBrowse link
G YLPM1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:97,976,129...98,042,234
Ensembl chr 7:97,976,144...98,042,230 		JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255312 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 chr12:21,074,965...21,079,393
Ensembl chr12:21,074,850...21,079,391 		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 8:110,241,220...110,368,001
Ensembl chr 8:110,241,227...110,367,912 		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 chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    sensory system disease 6894
      skin disease 4050
        sweat gland disease 152
          Fox-Fordyce disease 0
          Hyperhidrosis + 6
          Sweat Gland Neoplasms + 98
          hidradenitis + 12
          hypohidrosis + 36
          miliaria + 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      nervous system disease 13224
        Neurologic Manifestations 9793
          sensory system disease 6894
            skin disease 4050
              sweat gland disease 152
                Fox-Fordyce disease 0
                Hyperhidrosis + 6
                Sweat Gland Neoplasms + 98
                hidradenitis + 12
                hypohidrosis + 36
                miliaria + 0
                pompholyx 0
paths to the root