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.
G
CLCF1
cardiotrophin like cytokine factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:62,722,611...62,734,279
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 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:27976805 PMID:28492532 PMID:31497877 More...
NCBI chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584
G
KLHL7
kelch like family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
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 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
NCBI chr19:18,070,465...18,083,701
Ensembl chr19:19,040,682...19,046,584
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 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
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 chr11:62,722,611...62,734,279
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 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
G
KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
G
TBX3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316
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 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 PMID:202361270 More...
NCBI chr X:58,881,660...59,308,451
G
EDA2R
ectodysplasin A2 receptor
ISO
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
ClinVar
PMID:22889853
NCBI chr X:55,786,361...55,830,798
Ensembl chr X:65,850,306...65,894,975
G
MVK
mevalonate kinase
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic
ClinVar
PMID:25741868
NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
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 PMID:28981473 More...
NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
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 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
G
EDARADD
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921
NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046 Ensembl chr 1:216,960,418...217,044,046
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 PMID:28981473 More...
NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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 PMID:28981473 More...
NCBI chr2A:94,739,338...94,928,835
G
LOC100989340
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 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
NCBI chr2A:94,961,024...95,029,437
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 PMID:28981473 More...
NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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 PMID:28981473 More...
NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
G
SULT1C4
sulfotransferase family 1C member 4
ISO
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
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 PMID:28981473 More...
NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
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 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
G
EDARADD
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
ClinVar
PMID:25741868
NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046 Ensembl chr 1:216,960,418...217,044,046
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 PMID:28981473 More...
NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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 PMID:28981473 More...
NCBI chr2A:94,739,338...94,928,835
G
LOC100989340
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 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
NCBI chr2A:94,961,024...95,029,437
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 PMID:28981473 More...
NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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 PMID:28981473 More...
NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
G
SULT1C4
sulfotransferase family 1C member 4
ISO
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
G
EDARADD
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
OMIM ClinVar
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25640679 PMID:25741868 PMID:26440664 PMID:28492532 PMID:33502802 PMID:34219261 PMID:34573371 More...
NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046 Ensembl chr 1:216,960,418...217,044,046
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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
G
EDARADD
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
OMIM ClinVar
PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26440664 PMID:26991760 PMID:28492532 PMID:34219261 More...
NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046 Ensembl chr 1:216,960,418...217,044,046
G
LOC100989340
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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr2A:94,961,024...95,029,437
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 1:26,210,572...26,221,991
Ensembl chr 1:27,267,106...27,277,684
G
CST6
cystatin E/M
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type
OMIM ClinVar
PMID:25741868 PMID:30425301
NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762
G
G6PD
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
ClinVar
PMID:25741868
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
G
BAZ1A
bromodomain adjacent to zinc finger domain 1A
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
G
CFL2
cofilin 2
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
G
LOC100987236
signal recognition particle subunit SRP54
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
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 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:32581362 PMID:32750042 More...
NCBI chr14:16,155,331...16,158,588
G
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
G
PRORP
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
G
PSMA6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
ClinVar
PMID:28492532
NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
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 PMID:26463457 PMID:28492532 PMID:31421058 PMID:32926179 More...
NCBI chr 1:135,697,592...135,713,293
Ensembl chr 1:139,618,229...139,633,911
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 PMID:28492532 PMID:28601418 More...
NCBI chr19:32,675,331...32,677,285
Ensembl chr19:41,409,662...41,411,089
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 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:11568920 PMID:11710891 PMID:12119298 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:18797263 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22312439 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23114514 PMID:23383383 PMID:23638752 PMID:23885714 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25333068 PMID:25741868 PMID:26214276 PMID:26337232 PMID:26467025 PMID:26888304 PMID:27073747 PMID:27264813 PMID:27312774 PMID:27930341 PMID:28269784 PMID:28492532 PMID:29091718 PMID:29874583 PMID:30054184 PMID:31235249 PMID:31536626 PMID:31914229 PMID:32032730 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
NCBI chr14:53,718,299...53,802,684
Ensembl chr14:72,579,024...72,663,876
G
NCSTN
nicastrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:135,697,592...135,713,293
Ensembl chr 1:139,618,229...139,633,911
G
PSEN1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr14:53,718,299...53,802,684
Ensembl chr14:72,579,024...72,663,876
G
PSENEN
presenilin enhancer, gamma-secretase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr19:32,675,331...32,677,285
Ensembl chr19:41,409,662...41,411,089
G
CLDN10
claudin 10
ISO
ClinVar Annotator: match by term: HELIX syndrome
OMIM ClinVar
PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008
NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161
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 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
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 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374
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 PMID:10090906 PMID:10233776 PMID:10330344 PMID:10443680 PMID:10861667 PMID:10982191 PMID:11071380 PMID:11139246 PMID:11159935 PMID:11310631 PMID:11668614 PMID:11719521 PMID:11748840 PMID:12210794 PMID:12406349 PMID:12949319 PMID:15534759 PMID:16199547 PMID:16373086 PMID:17576681 PMID:18056464 PMID:18162686 PMID:18179783 PMID:18322713 PMID:18955016 PMID:19250380 PMID:19598235 PMID:19618435 PMID:19651702 PMID:20003389 PMID:20301726 PMID:20647579 PMID:21708027 PMID:22032467 PMID:22302274 PMID:22397633 PMID:22653642 PMID:22957891 PMID:23112235 PMID:23241418 PMID:23799134 PMID:24088041 PMID:24154508 PMID:24631696 PMID:25359976 PMID:25519000 PMID:25640679 PMID:25741868 PMID:25984678 PMID:26215504 PMID:26467025 PMID:26633545 PMID:26925801 PMID:27058611 PMID:27265460 PMID:27544236 PMID:27551041 PMID:27676246 PMID:27698470 PMID:27761255 PMID:28177573 PMID:28192073 PMID:28328124 PMID:28345382 PMID:28492532 PMID:28940190 PMID:28981924 PMID:29190530 PMID:29619836 PMID:29770739 PMID:30002500 PMID:30201336 PMID:30774415 PMID:31069529 PMID:31130284 PMID:32214227 PMID:32219930 PMID:32369273 PMID:32707200 PMID:32707409 PMID:32807182 PMID:32901917 PMID:33235206 PMID:33422294 PMID:33748046 PMID:34405299 PMID:34480478 PMID:35471943 PMID:37248554 More...
Ensembl chr 1:136,007,476...136,047,355
G
SH2D2A
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar
PMID:25741868
NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
G
CD163
CD163 molecule
ISO
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
G
GJB2
gap junction protein beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
G
IL17D
interleukin 17D
sexual_dimorphism
ISO
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
G
IL32
interleukin 32
exacerbates
ISO
mRNA,protein:increased expression:zone of skin, blood serum (human)
RGD
PMID:28301691
RGD:150340720
NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929
G
LCN2
lipocalin 2
disease_progression
ISO
RGD
PMID:28256718
RGD:126781708
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
MEFV
MEFV innate immunity regulator, pyrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970
G
NLRP3
NLR family pyrin domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
G
NOD2
nucleotide binding oligomerization domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773
G
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
Ensembl chr15:75,533,114...75,552,365
G
TNF
tumor necrosis factor
ISO
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
G
CAT
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:16718367
RGD:9479745
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
G
FLG
filaggrin
ISO
ClinVar Annotator: match by term: HYPRPP
ClinVar
PMID:25741868
NCBI chr 1:127,634,416...127,649,659
G
AQP5
aquaporin 5
ISO
RGD
PMID:11773623
RGD:70240
NCBI chr12:38,789,505...38,793,305
Ensembl chr12:39,684,008...39,687,127
G
COG6
component of oligomeric golgi complex 6
ISO
ClinVar Annotator: match by term: Hypohidrosis
ClinVar
PMID:23606727 PMID:25558065 PMID:25741868
NCBI chr13:20,872,151...20,973,658
Ensembl chr13:39,459,424...39,591,666
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 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18821982 PMID:19278982 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 More...
NCBI chr X:58,881,660...59,308,451
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 PMID:28492532 PMID:28808699 More...
NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
G
EDARADD
EDAR associated via death domain
ISO
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532
NCBI chr 1:211,973,108...212,043,142
Ensembl chr 1:216,960,418...217,044,046 Ensembl chr 1:216,960,418...217,044,046
G
LOC100989340
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 PMID:28492532 PMID:28808699 More...
NCBI chr2A:94,961,024...95,029,437
G
TRAF6
TNF receptor associated factor 6
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
MouseDO
NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334
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 PMID:23167694 PMID:23401279 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:29431110 PMID:30426266 PMID:30974434 PMID:35537890 More...
NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
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 chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
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 chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
G
AMPD3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:10,581,730...10,638,777
Ensembl chr11:10,309,436...10,365,369
G
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299
G
ARHGEF40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466
G
ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
G
ASMTL
acetylserotonin O-methyltransferase like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr X:1,534,754...1,588,735
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 PMID:25157968 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
G
CCDC28A
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:136,533,841...136,553,303
Ensembl chr 6:140,619,716...140,638,830
G
CDCA2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584
G
CDCP1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:44,982,974...45,048,814
Ensembl chr 3:46,097,391...46,130,929
G
CELF4
CUGBP Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:30,495,149...30,818,358
Ensembl chr18:34,068,123...34,374,372
G
CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:21,041,763...21,089,958
G
CLSPN
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544
G
COL4A2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
G
CORO2A
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:69,210,625...69,282,434
Ensembl chr 9:97,335,026...97,368,204
G
DAPK1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
G
DCHS1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352
G
DYRK1B
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387
G
EHBP1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2A:62,784,756...63,122,396
Ensembl chr2A:63,882,029...64,250,914
G
ELOVL5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878
G
EPHB6
EPH receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:134,845,936...134,862,114
Ensembl chr 7:147,337,558...147,353,575
G
EPPK1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:140,611,627...140,640,303
G
ETV5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:183,076,677...183,139,886
Ensembl chr 3:191,545,915...191,606,550
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 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403
G
FAM168B
family with sequence similarity 168 member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:29,717,246...29,762,842
Ensembl chr2B:131,801,321...131,835,725
G
FRAS1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476
G
FTCD
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
G
GRIN3A
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:72,773,866...72,943,790
Ensembl chr 9:100,767,715...100,941,323
G
GTDC1
glycosyltransferase like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426
G
HAS1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804
G
HIVEP1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:11,847,552...12,003,710
Ensembl chr 6:12,286,017...12,363,803
G
HRH2
histamine receptor H2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566
G
IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
G
IGF2R
insulin like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762
G
IGSF3
immunoglobulin superfamily member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:85,852,214...85,989,556
G
INTS3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842
G
ITGAL
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597
G
ITGB4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401
G
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:135,391,321...135,424,100
G
LARP4B
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:842,621...966,106
Ensembl chr10:894,957...971,154
G
LENG9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:51,408,645...51,411,271
G
LINGO3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:1,299,345...1,317,706
G
LOC100988625
keratin-associated protein 10-11
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323
G
LRP10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936
G
LRRFIP1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116
G
MAN2B1
mannosidase alpha class 2B member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056
G
MFHAS1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:10,318,455...10,428,469
G
MLXIPL
MLX interacting protein like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr 7:80,745,765...80,776,153
G
MMP26
matrix metallopeptidase 26
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:5,154,066...5,158,891
Ensembl chr11:4,823,666...4,828,035
G
MRRF
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:93,389,726...93,448,596
Ensembl chr 9:121,730,783...121,790,157
G
NAPSA
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:47,321,581...47,333,307
Ensembl chr19:56,225,421...56,232,822
G
NR3C2
nuclear receptor subfamily 3 group C member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298
G
NUMA1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425
G
OXA1L
OXA1L mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101
G
PACSIN2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr22:23,757,565...23,900,837
Ensembl chr22:41,908,922...41,999,692
G
PARS2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:54,032,594...54,040,274
Ensembl chr 1:55,622,726...55,624,750
G
PLAGL1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:141,715,599...141,841,862
Ensembl chr 6:146,435,622...146,480,224
G
POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
G
PTGFR
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:77,714,164...77,762,171
Ensembl chr 1:79,794,831...79,841,467
G
PTPN21
protein tyrosine phosphatase non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:69,085,843...69,174,659
Ensembl chr14:88,444,261...88,528,951
G
RABEP2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr16:29,289,949...29,314,177
G
RAD50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261
G
RBM12B
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:90,355,185...90,364,933
G
RBM4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:61,996,221...62,026,007
Ensembl chr11:65,298,404...65,349,183
G
RECQL5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:69,577,778...69,618,068
Ensembl chr17:75,128,325...75,168,254
G
RPL36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:4,707,396...4,708,897
Ensembl chr19:5,643,030...5,644,360
G
SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553
G
SCNN1G
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969
G
SENP3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:7,593,904...7,603,538
Ensembl chr17:7,580,106...7,589,838
G
SLC27A5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630
G
SLC7A2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645
G
SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513
G
SPECC1
sperm antigen with calponin homology and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:30,800,973...31,114,322
Ensembl chr17:35,951,060...36,253,178
G
SPEN
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585
G
STIL
STIL centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071
G
STON1
stonin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr2A:48,656,425...48,722,288
Ensembl chr2A:49,577,562...49,721,845
G
SYT7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:56,814,694...56,880,439
Ensembl chr11:60,175,403...60,242,375
G
TANGO6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:49,214,359...49,456,454
Ensembl chr16:68,605,597...68,844,467
G
TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
G
TENM3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:173,644,674...174,993,218
Ensembl chr 4:186,738,624...187,214,394
G
TEX15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:30,145,628...30,232,903
Ensembl chr 8:27,334,129...27,420,049
G
TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
G
TLN2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:41,337,084...41,790,949
Ensembl chr15:59,892,920...60,088,414
G
TMCC3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:92,150,075...92,233,394
Ensembl chr12:95,508,740...95,556,182
G
TMEM121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:86,181,558...86,185,176
G
TNKS1BP1
tankyrase 1 binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:52,541,056...52,566,544
Ensembl chr 3:160,029,550...160,054,494
G
TRPM4
transient receptor potential cation channel subfamily M member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
G
TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
G
TSKS
testis specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:46,753,614...46,776,505
Ensembl chr19:55,672,894...55,694,031
G
TSPEAR
thrombospondin type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041
G
VAC14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143
G
VIPR2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
Ensembl chr 7:162,306,477...162,422,788
G
YLPM1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:55,315,429...55,388,330
Ensembl chr14:74,160,867...74,232,769
G
ZNF668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494
G
LOC100975309
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 chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
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 PMID:35868845 More...
NCBI chr 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026
G
TP63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20740144
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all