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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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CRLF1 cytokine receptor like factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death
ClinVar Annotator: match by term: Cold-induced sweating syndrome		 CTD
ClinVar		 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:21370513 More... NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G KLHL7 kelch like family member 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		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 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar		 PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741 		JBrowse link
G KLHL7 kelch like family member 7 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		JBrowse link
G LOC112543470 Sharpr-MPRA regulatory region 11645 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:19012339 PMID:24488861 PMID:25741868 NCBI chr19:18,596,719...18,597,013 JBrowse link
G LOC130064021 ATAC-STARR-seq lymphoblastoid silent region 10411 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:12509788 PMID:17436252 PMID:21370513 NCBI chr19:18,594,301...18,594,690 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 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar		 PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G LOC100130987 uncharacterized LOC100130987 IAGP ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 ClinVar PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr11:67,317,839...67,391,687 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 IAGP ClinVar Annotator: match by term: KLHL7-related condition
ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 More... NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914 		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 IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		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 IAGP
EXP		 ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic		 ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246 		JBrowse link
G LOC126806303 BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,956,962...108,958,161 JBrowse link
G LOC129388897 MPRA-validated peak3811 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,846,029...108,846,229 JBrowse link
G LOC129388898 MPRA-validated peak3812 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,870,099...108,870,299 JBrowse link
G LOC129934529 ATAC-STARR-seq lymphoblastoid silent region 11852 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:108,786,580...108,787,169 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia		 ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia		 ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,786,750...108,885,485
Ensembl chr 2:108,786,757...108,885,477 		JBrowse link
G EDAR ectodysplasin A receptor IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive		 ClinVar
CTD
OMIM		 PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		 CTD
ClinVar		 PMID:25741868 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,533,671...108,687,246
Ensembl chr 2:108,533,671...108,687,246 		JBrowse link
G LOC126806303 BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:28492532 NCBI chr 2:108,956,962...108,958,161 JBrowse link
G LOC126806304 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 NCBI chr 2:108,971,781...108,972,980 JBrowse link
G LOC129388897 MPRA-validated peak3811 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,846,029...108,846,229 JBrowse link
G LOC129388898 MPRA-validated peak3812 silencer IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,870,099...108,870,299 JBrowse link
G LOC129934529 ATAC-STARR-seq lymphoblastoid silent region 11852 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:108,786,580...108,787,169 JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
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 Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive		 ClinVar PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16435307 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,288,895...108,309,915
Ensembl chr 2:108,288,639...108,309,915 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,239,968...108,265,351
Ensembl chr 2:108,239,968...108,265,351 		JBrowse link
G SULT1C4 sulfotransferase family 1C member 4 IAGP ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 2:108,377,954...108,388,989
Ensembl chr 2:108,377,911...108,388,989 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ClinVar
OMIM		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		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 IAGP 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 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain IAGP 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		 ClinVar
OMIM		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP 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 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ClinVar
OMIM		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468 		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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		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 IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 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 IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP
EXP		 DNA:mutation:splicing site:
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 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 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,752,731...34,875,360
Ensembl chr14:34,752,731...34,875,647 		JBrowse link
G CFL2 cofilin 2 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,044,907...35,083,383
Ensembl chr14:35,045,117...35,116,630 		JBrowse link
G LOC130055494 ATAC-STARR-seq lymphoblastoid active region 8276 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:35,403,241...35,403,550 JBrowse link
G LOC130055496 ATAC-STARR-seq lymphoblastoid silent region 5675 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:35,403,831...35,404,420 JBrowse link
G LOC130055497 ATAC-STARR-seq lymphoblastoid silent region 5676 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:17931563 PMID:18412279 PMID:25741868 PMID:28492532 PMID:28629746 More... NCBI chr14:35,404,571...35,404,740 JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP
EXP		 ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493 		JBrowse link
G SRP54 signal recognition particle 54 IAGP ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 1
ClinVar Annotator: match by term: NCSTN-related condition
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition		 ClinVar
OMIM		 PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 More... NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952 		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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 2 ClinVar
OMIM		 PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 More... NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		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 IAGP ClinVar Annotator: match by term: Acne inversa, familial, 3 ClinVar
OMIM		 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 More... NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
Familial Hidradenitis Suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCSTN nicastrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952 		JBrowse link
G PSEN1 presenilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:20929727 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN10 claudin 10 IAGP ClinVar Annotator: match by term: HELIX syndrome ClinVar
OMIM		 PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		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 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G LOC129931648 ATAC-STARR-seq lymphoblastoid silent region 1440 IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV		 ClinVar PMID:10330344 PMID:10982191 PMID:20301726 PMID:25741868 PMID:28328124 More... NCBI chr 1:156,860,931...156,860,980 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
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: Neuropathy, congenital sensory, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis
ClinVar Annotator: match by term: HSAN 4 | 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
OMIM		 PMID:77656 PMID:0233776 PMID:3472625 PMID:8696348 PMID:9536098 More... NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G SH2D2A SH2 domain containing 2A IAGP ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar PMID:25741868 NCBI chr 1:156,806,243...156,816,848
Ensembl chr 1:156,806,240...156,816,848 		JBrowse link
hidradenitis suppurativa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD163 CD163 molecule IEP protein:increased expression:dermis (human) RGD PMID:29603182 RGD:127285799 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G GJB2 gap junction protein beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G IL17D interleukin 17D sexual_dimorphism HEP mRNA:increased expression:apocrine gland (human) RGD PMID:32031713 RGD:40903066 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G IL32 interleukin 32 exacerbates IEP mRNA,protein:increased expression:zone of skin, blood serum (human) RGD PMID:28301691 RGD:150340720 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G LCN2 lipocalin 2 disease_progression IEP RGD PMID:28256718 RGD:126781708 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27106250 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphism,haplotype:promoter:-238G>A(human) RGD PMID:23106544 RGD:7777155 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Hyperhidrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase IEP protein:decreased activity:erythrocyte: RGD PMID:16718367 RGD:9479745 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
Hyperhidrosis Palmaris Et Plantaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDST cervical cancer associated DHX9 suppressive transcript IAGP ClinVar Annotator: match by term: HYPRPP ClinVar PMID:25741868 NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456 		JBrowse link
G FLG filaggrin IAGP ClinVar Annotator: match by term: HYPRPP ClinVar PMID:25741868 NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239 		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 chr12:49,961,872...49,965,682
Ensembl chr12:49,961,872...49,965,682 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP ClinVar Annotator: match by term: Hypohidrosis ClinVar PMID:23606727 PMID:25558065 PMID:25741868 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		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 ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO
RGD		 PMID:31028034 RGD:14398763 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDAR ectodysplasin A receptor ISS
IAGP		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 MouseDO
ClinVar		 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372 		JBrowse link
G EDARADD EDAR associated via death domain ISO
IAGP		 DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 ClinVar
RGD		 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272 		JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581 		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 IAGP
ISS		 ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
OMIM:106190		 ClinVar
MouseDO
OMIM		 PMID:25329695 PMID:25741868 PMID:28492532 NCBI chr12:26,335,352...26,833,194
Ensembl chr12:26,335,352...26,833,194 		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 IAGP ClinVar Annotator: match by term: Isolated hyperchlorhidrosis ClinVar
OMIM		 PMID:21035102 PMID:21184099 PMID:25741868 PMID:26911677 PMID:28492532 NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846 		JBrowse link
myoepithelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC090386.1 novel transcript, antisense to CELF4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:37,274,460...37,276,400
Ensembl chr18:37,273,706...37,276,572 		JBrowse link
G AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G AMPD3 adenosine monophosphate deaminase 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:10,450,388...10,507,579
Ensembl chr11:10,308,313...10,507,579 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:21,061,264...21,090,248
Ensembl chr14:21,070,273...21,090,248 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ASMTL acetylserotonin O-methyltransferase like IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr  X:1,403,139...1,453,756
NCBI chr  Y:1,403,139...1,453,756
Ensembl chr  Y:1,403,139...1,453,762
Ensembl chr  X:1,403,139...1,453,762 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCDC28A coiled-coil domain containing 28A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:138,773,769...138,793,319
Ensembl chr 6:138,773,769...138,793,319 		JBrowse link
G CDCA2 cell division cycle associated 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:25,458,931...25,507,917
Ensembl chr 8:25,459,199...25,507,911 		JBrowse link
G CDCP1 CUB domain containing protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:45,082,277...45,146,482
Ensembl chr 3:45,082,277...45,146,422 		JBrowse link
G CELF4 CUGBP Elav-like family member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:37,242,844...37,565,798
Ensembl chr18:37,243,040...37,565,827 		JBrowse link
G CLIC6 chloride intracellular channel 6 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:34,668,994...34,718,223
Ensembl chr21:34,668,994...34,718,227 		JBrowse link
G CLSPN claspin IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:35,720,213...35,769,978
Ensembl chr 1:35,720,218...35,769,978 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G CORO2A coronin 2A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:98,120,975...98,192,637
Ensembl chr 9:98,120,975...98,192,637 		JBrowse link
G DAPK1 death associated protein kinase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G EHBP1 EH domain binding protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:62,673,878...63,046,487
Ensembl chr 2:62,673,851...63,046,487 		JBrowse link
G ELOVL5 ELOVL fatty acid elongase 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:53,267,404...53,348,950
Ensembl chr 6:53,267,398...53,349,179 		JBrowse link
G EPHB6 EPH receptor B6 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:142,855,076...142,871,093
Ensembl chr 7:142,855,061...142,871,094 		JBrowse link
G EPPK1 epiplakin 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467 		JBrowse link
G ETV5 ETS variant transcription factor 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:186,046,314...186,109,089
Ensembl chr 3:186,046,314...186,110,318 		JBrowse link
G ETV5-AS1 ETV5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:186,079,170...186,080,947
Ensembl chr 3:186,079,170...186,080,947 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FAM168B family with sequence similarity 168 member B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:131,047,876...131,093,460
Ensembl chr 2:131,047,876...131,093,460 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GRIN3A glutamate ionotropic receptor NMDA type subunit 3A IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:101,569,352...101,738,647
Ensembl chr 9:101,569,352...101,738,647 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:143,938,068...144,333,069
Ensembl chr 2:143,938,068...144,332,568 		JBrowse link
G HAS1 hyaluronan synthase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991 		JBrowse link
G HIVEP1 HIVEP zinc finger 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:12,007,693...12,212,048
Ensembl chr 6:12,008,762...12,164,999 		JBrowse link
G HRH2 histamine receptor H2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:175,658,071...175,710,756
Ensembl chr 5:175,658,030...175,710,756 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G IGSF3 immunoglobulin superfamily member 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:116,574,398...116,667,755
Ensembl chr 1:116,574,399...116,667,755 		JBrowse link
G INTS3 integrator complex subunit 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:153,728,050...153,774,808
Ensembl chr 1:153,728,050...153,774,808 		JBrowse link
G ITGAL integrin subunit alpha L IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650 		JBrowse link
G LARP4B La ribonucleoprotein 4B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:806,914...988,341
Ensembl chr10:806,933...931,821 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LENG9 leukocyte receptor cluster member 9 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:54,461,732...54,463,778
Ensembl chr19:54,461,732...54,463,778 		JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:2,287,164...2,308,154
Ensembl chr19:2,287,164...2,308,154 		JBrowse link
G LOC130058743 ATAC-STARR-seq lymphoblastoid active region 10651 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:28,924,490...28,924,719 JBrowse link
G LRP10 LDL receptor related protein 10 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:22,871,740...22,881,713
Ensembl chr14:22,871,740...22,881,713 		JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MFHAS1 multifunctional ROCO family signaling regulator 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:8,783,354...8,893,630
Ensembl chr 8:8,783,354...8,893,630 		JBrowse link
G MLXIPL MLX interacting protein like IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP26 matrix metallopeptidase 26 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:4,704,784...4,992,429
Ensembl chr11:4,704,784...4,992,431 		JBrowse link
G MRRF mitochondrial ribosome recycling factor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:122,264,882...122,331,337
Ensembl chr 9:122,264,603...122,331,337 		JBrowse link
G NAPSA napsin A aspartic peptidase IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:50,358,477...50,365,639
Ensembl chr19:50,358,472...50,365,830 		JBrowse link
G NR3C2 nuclear receptor subfamily 3 group C member 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G OXA1L OXA1L mitochondrial inner membrane protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:22,766,688...22,773,042
Ensembl chr14:22,766,522...22,773,042 		JBrowse link
G PACSIN2 protein kinase C and casein kinase substrate in neurons 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr22:42,869,766...43,015,149
Ensembl chr22:42,835,412...43,015,149 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PRSS1 serine protease 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PTGFR prostaglandin F receptor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:78,490,974...78,540,701
Ensembl chr 1:78,303,884...78,540,701 		JBrowse link
G PTPN21 protein tyrosine phosphatase non-receptor type 21 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:88,465,778...88,555,007
Ensembl chr14:88,465,778...88,555,007 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:28,904,421...28,925,238
Ensembl chr16:28,904,421...28,936,526 		JBrowse link
G RAD50 RAD50 double strand break repair protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349 		JBrowse link
G RBM12B RNA binding motif protein 12B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:93,728,155...93,741,009
Ensembl chr 8:93,728,155...93,741,017 		JBrowse link
G RBM14-RBM4 RBM14-RBM4 readthrough IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:66,616,630...66,646,468
Ensembl chr11:66,616,626...66,646,469 		JBrowse link
G RBM4 RNA binding motif protein 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:66,638,703...66,668,380
Ensembl chr11:66,638,667...66,668,374 		JBrowse link
G RECQL5 RecQ like helicase 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:75,626,854...75,667,154
Ensembl chr17:75,626,845...75,667,189 		JBrowse link
G RPL36 ribosomal protein L36 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:5,690,295...5,691,875
Ensembl chr19:5,674,947...5,691,875 		JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SENP3 SUMO specific peptidase 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:7,561,919...7,571,969
Ensembl chr17:7,561,919...7,571,969 		JBrowse link
G SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:7,561,992...7,579,006
Ensembl chr17:7,563,287...7,578,715 		JBrowse link
G SLC27A5 solute carrier family 27 member 5 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:58,498,333...58,511,992
Ensembl chr19:58,479,512...58,512,413 		JBrowse link
G SLC7A2 solute carrier family 7 member 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr22:45,344,063...45,413,599
Ensembl chr22:45,344,063...45,413,619 		JBrowse link
G SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:20,009,359...20,319,026
Ensembl chr17:20,008,865...20,319,026 		JBrowse link
G SPEN spen family transcriptional repressor IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G STIL STIL centriolar assembly protein IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STON1 stonin 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:48,530,154...48,598,513
Ensembl chr 2:48,529,383...48,598,513 		JBrowse link
G STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		JBrowse link
G SYT7 synaptotagmin 7 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:61,513,714...61,588,387
Ensembl chr11:61,513,714...61,581,148 		JBrowse link
G TANGO6 transport and golgi organization 6 homolog IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:68,843,531...69,085,182
Ensembl chr16:68,843,531...69,085,182 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764 		JBrowse link
G TENM3 teneurin transmembrane protein 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024 		JBrowse link
G TEX15 testis expressed 15, meiosis and synapsis associated IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:30,831,544...30,913,008
Ensembl chr 8:30,831,544...30,913,008 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TLN2 talin 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:62,390,550...62,844,631
Ensembl chr15:62,390,526...62,844,631 		JBrowse link
G TMCC3 transmembrane and coiled-coil domain family 3 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:94,567,122...94,650,557
Ensembl chr12:94,567,122...94,650,557 		JBrowse link
G TMEM121 transmembrane protein 121 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:105,526,583...105,530,198
Ensembl chr14:105,526,583...105,530,198 		JBrowse link
G TNKS1BP1 tankyrase 1 binding protein 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:57,299,642...57,324,952
Ensembl chr11:57,299,638...57,324,952 		JBrowse link
G TRB T cell receptor beta locus IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 7:142,299,011...142,813,287 JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSKS testis specific serine kinase substrate IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:49,739,760...49,763,306
Ensembl chr19:49,739,753...49,763,306 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VIPR2 vasoactive intestinal peptide receptor 2 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:159,028,175...159,144,867
Ensembl chr 7:159,028,175...159,144,867 		JBrowse link
G YLPM1 YLP motif containing 1 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:74,763,316...74,837,318
Ensembl chr14:74,763,316...74,859,435 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT14 keratin 14 IAGP
EXP		 ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome
ClinVar Annotator: match by term: NFJ syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496458 PMID:13141721 PMID:16960809 PMID:25741868 PMID:28492532 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		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 IAGP 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 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    sensory system disease 20956
      skin disease 10978
        sweat gland disease 180
          Fox-Fordyce disease 0
          Hyperhidrosis + 11
          Sweat Gland Neoplasms + 108
          hidradenitis + 16
          hypohidrosis + 45
          miliaria + 0
          pompholyx 0
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Neurologic Manifestations 31894
          sensory system disease 20956
            skin disease 10978
              sweat gland disease 180
                Fox-Fordyce disease 0
                Hyperhidrosis + 11
                Sweat Gland Neoplasms + 108
                hidradenitis + 16
                hypohidrosis + 45
                miliaria + 0
                pompholyx 0
paths to the root