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G |
AQP5 |
aquaporin 5 |
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ISO |
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RGD |
PMID:11773623 |
RGD:70240 |
NCBI chr12:38,789,505...38,793,305
Ensembl chr12:39,684,008...39,687,127
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G |
COG6 |
component of oligomeric golgi complex 6 |
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ISO |
ClinVar Annotator: match by term: Hypohidrosis |
ClinVar |
PMID:23606727 PMID:25558065 PMID:25741868 |
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NCBI chr13:20,872,151...20,973,658
Ensembl chr13:39,459,424...39,591,666
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G |
EDA |
ectodysplasin A |
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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...
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NCBI chr X:58,881,660...59,308,451
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G |
EDA2R |
ectodysplasin A2 receptor |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia |
ClinVar |
PMID:22889853 |
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NCBI chr X:55,786,361...55,830,798
Ensembl chr X:65,850,306...65,894,975
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G |
MVK |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic |
ClinVar |
PMID:25741868 |
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NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
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G |
CCDC138 |
coiled-coil domain containing 138 |
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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...
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NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
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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...
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NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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G |
EDARADD |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
ClinVar |
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 |
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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
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G |
GCC2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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G |
LIMS1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr2A:94,739,338...94,928,835
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G |
LOC100989340 |
E3 SUMO-protein ligase RanBP2 |
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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...
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NCBI chr2A:94,961,024...95,029,437
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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G |
SULT1C2 |
sulfotransferase family 1C member 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
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G |
SULT1C4 |
sulfotransferase family 1C member 4 |
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ISO |
ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic |
ClinVar |
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
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NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
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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...
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NCBI chr2A:95,030,440...95,126,627
Ensembl chr2A:110,041,000...110,128,234
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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...
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NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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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 |
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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
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G |
GCC2 |
GRIP and coiled-coil domain containing 2 |
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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...
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NCBI chr2A:94,659,117...94,721,491
Ensembl chr2A:109,682,552...109,734,682
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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...
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NCBI chr2A:94,739,338...94,928,835
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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...
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NCBI chr2A:94,961,024...95,029,437
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G |
SLC5A7 |
solute carrier family 5 member 7 |
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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...
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NCBI chr2A:93,917,086...93,944,308
Ensembl chr2A:109,017,805...109,046,860
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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...
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NCBI chr2A:94,468,094...94,489,191
Ensembl chr2A:109,572,466...109,622,211
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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...
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NCBI chr2A:94,508,492...94,519,963
Ensembl chr2A:109,572,466...109,622,211
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G |
EDARADD |
EDAR associated via death domain |
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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...
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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
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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...
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NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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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...
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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
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G |
LOC100989340 |
E3 SUMO-protein ligase RanBP2 |
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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...
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NCBI chr2A:94,961,024...95,029,437
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G |
KDF1 |
keratinocyte differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type |
OMIM ClinVar |
PMID:25741868 PMID:27838789 PMID:28492532 |
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NCBI chr 1:26,210,572...26,221,991
Ensembl chr 1:27,267,106...27,277,684
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G |
CST6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type |
OMIM ClinVar |
PMID:25741868 PMID:30425301 |
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NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY |
ClinVar |
PMID:25741868 |
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NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY |
ClinVar |
PMID:25741868 |
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NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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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...
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NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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G |
BAZ1A |
bromodomain adjacent to zinc finger domain 1A |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:15,510,881...15,632,516
Ensembl chr14:33,699,424...33,804,473
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G |
CFL2 |
cofilin 2 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
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G |
LOC100987236 |
signal recognition particle subunit SRP54 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:15,733,446...15,779,987
Ensembl chr14:33,920,287...34,017,151
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G |
NFKBIA |
NFKB inhibitor alpha |
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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...
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NCBI chr14:16,155,331...16,158,588
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G |
PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
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G |
PRORP |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657
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G |
PSMA6 |
proteasome 20S subunit alpha 6 |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 |
ClinVar |
PMID:28492532 |
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NCBI chr14:16,044,300...16,069,521
Ensembl chr14:34,214,271...34,252,347
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G |
HAX1 |
HCLS1 associated protein X-1 |
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ISO |
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:129,627,564...129,630,920
Ensembl chr 1:133,241,077...133,244,431
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G |
INSRR |
insulin receptor related receptor |
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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
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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...
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Ensembl chr 1:136,007,476...136,047,355
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G |
SH2D2A |
SH2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV |
ClinVar |
PMID:25741868 |
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NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754
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G |
EDA |
ectodysplasin A |
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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...
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NCBI chr X:58,881,660...59,308,451
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G |
EDAR |
ectodysplasin A receptor |
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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...
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NCBI chr2A:95,132,396...95,172,218
Ensembl chr2A:110,146,499...110,234,398
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G |
EDARADD |
EDAR associated via death domain |
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ISO |
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 |
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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
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G |
LOC100989340 |
E3 SUMO-protein ligase RanBP2 |
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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...
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NCBI chr2A:94,961,024...95,029,437
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G |
TRAF6 |
TNF receptor associated factor 6 |
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ISO |
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 |
MouseDO |
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NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334
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G |
WNT10A |
Wnt family member 10A |
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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...
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NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
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G |
ITPR2 |
inositol 1,4,5-trisphosphate receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands |
OMIM ClinVar |
PMID:25329695 PMID:25741868 PMID:28492532 |
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NCBI chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
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G |
LOC100975309 |
keratin, type I cytoskeletal 14 |
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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 |
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NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
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G |
ALPK1 |
alpha kinase 1 |
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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...
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NCBI chr 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026
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