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G
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Aqp5
|
aquaporin 5
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ISO
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RGD |
PMID:11773623 |
RGD:70240 |
NCBI chrNW_004936512:7,639,518...7,643,242
Ensembl chrNW_004936512:7,639,668...7,642,756
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G
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Cog6
|
component of oligomeric golgi complex 6
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ISO
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ClinVar Annotator: match by term: Hypohidrosis
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ClinVar |
PMID:23606727 PMID:25558065 PMID:25741868 |
|
NCBI chrNW_004936565:5,996,031...6,069,517
Ensembl chrNW_004936565:5,996,270...6,069,426
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G
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Eda
|
ectodysplasin A
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ISO
|
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
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OMIM ClinVar |
PMID:8696334 PMID:9241277 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:11735257 PMID:12531876 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15607392 PMID:15663448 PMID:16199547 PMID:16583127 PMID:17066260 PMID:17256800 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:23283745 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24111713 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25132132 PMID:25333067 PMID:25339629 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:28052341 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:30417976 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:32176048 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34545288 PMID:34573371 PMID:34817077 PMID:34863015 PMID:34906502 PMID:35023123 PMID:35599849 PMID:35923710 PMID:36071541 PMID:36294409 PMID:38287639 PMID:202361270 More...
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NCBI chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410
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G
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Eda2r
|
ectodysplasin A2 receptor
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|
ISO
|
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
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ClinVar |
PMID:22889853 |
|
NCBI chrNW_004936635:1,303,855...1,335,766
Ensembl chrNW_004936635:1,303,858...1,337,868
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G
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Mvk
|
mevalonate kinase
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|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic
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ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178
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G
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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...
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NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235
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G
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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:29364747 PMID:30623979 PMID:31245878 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
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NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943
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G
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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 PMID:25741868 |
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NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146
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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...
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|
NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510
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G
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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 chrNW_004936829:187,234...240,213
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G
|
LOC101970597
|
sulfotransferase 1C1
|
|
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 chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740
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G
|
Ranbp2
|
RAN binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
|
ClinVar |
PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 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:29364747 PMID:30623979 PMID:31245878 PMID:32274043 PMID:32325225 PMID:33205897 PMID:36135330 More...
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|
NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999
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|
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 chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200
|
|
|
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 chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235
|
|
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:16029325 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
|
|
NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943
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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 |
|
NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146
|
|
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 chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510
|
|
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 chrNW_004936829:187,234...240,213
|
|
G
|
LOC101970597
|
sulfotransferase 1C1
|
|
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 chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740
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|
G
|
Ranbp2
|
RAN binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
|
ClinVar |
PMID:10431241 PMID:10431242 PMID:11279189 PMID:15373768 PMID:16029325 PMID:16435307 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:18854857 PMID:20236127 PMID:20979233 PMID:22032522 PMID:23401279 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28981473 More...
|
|
NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999
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|
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 chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200
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|
|
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:9245989 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 chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146
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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...
|
|
NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943
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|
G
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Edaradd
|
EDAR associated via death domain
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|
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 chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146
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G
|
Ranbp2
|
RAN binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
|
ClinVar |
PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
|
|
NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999
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|
G
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Kdf1
|
keratinocyte differentiation factor 1
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|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition
|
OMIM ClinVar |
PMID:25741868 PMID:27838789 PMID:28492532 |
|
NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168
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G
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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 |
|
NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418
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G
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G6pd
|
glucose-6-phosphate dehydrogenase
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ISO
|
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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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:11224521 PMID:11590134 PMID:15229184 PMID:20412081 PMID:20529958 PMID:25741868 PMID:28993958 More...
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NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813
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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 |
|
NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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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:20412081 PMID:20529958 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 chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813
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|
|
G
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Baz1a
|
bromodomain adjacent to zinc finger domain 1A
|
|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620
|
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G
|
Cfl2
|
cofilin 2
|
|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936494:8,946,442...8,948,320
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G
|
LOC101965130
|
signal recognition particle 54 kDa protein
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|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955 Ensembl chrNW_004936494:9,227,321...9,246,955
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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:12167702 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 PMID:18412279 PMID:22078572 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:31618753 PMID:32581362 PMID:32750042 PMID:35753512 More...
|
|
NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
|
|
G
|
Ppp2r3c
|
protein phosphatase 2 regulatory subunit B''gamma
|
|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019
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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 |
|
NCBI chrNW_004936494:9,282,894...9,414,350
|
|
G
|
Psma6
|
proteasome 20S subunit alpha 6
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|
ISO
|
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936494:9,443,176...9,467,697
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G
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Hax1
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HCLS1 associated protein X-1
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ISO
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ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322
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G
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Insrr
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insulin receptor related receptor
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ISO
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ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994
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G
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Ntrk1
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neurotrophic receptor tyrosine kinase 1
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ISO
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ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: NTRK1-related condition | ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4
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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:15652857 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:22213154 PMID:22302274 PMID:22397633 PMID:22653642 PMID:22957891 PMID:23112235 PMID:23241418 PMID:23799134 PMID:24088041 PMID:24154508 PMID:24429398 PMID:24631696 PMID:25359976 PMID:25519000 PMID:25640679 PMID:25741868 PMID:25984678 PMID:26215504 PMID:26467025 PMID:26633545 PMID:26925801 PMID:27058611 PMID:27184211 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:34193129 PMID:34405299 PMID:34480478 PMID:35471943 PMID:37248554 PMID:38581121 More...
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NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709
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G
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Sh2d2a
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SH2 domain containing 2A
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ISO
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ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 4
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677
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G
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Eda
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ectodysplasin A
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ISO
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ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia
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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 chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410
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G
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Edar
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ectodysplasin A receptor
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ISO
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ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
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ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943
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G
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Edaradd
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EDAR associated via death domain
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ISO
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ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
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ClinVar |
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146
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G
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Ranbp2
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RAN binding protein 2
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ISO
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ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
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ClinVar |
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28808699 More...
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NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999
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G
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Traf6
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TNF receptor associated factor 6
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ISO
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OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
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MouseDO |
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NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120
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G
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Wnt10a
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Wnt family member 10A
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ISO
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ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
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ClinVar |
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 PMID:23167694 PMID:23401279 PMID:23991204 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:30046887 PMID:30426266 PMID:30974434 PMID:33034246 PMID:34228861 PMID:35537890 More...
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NCBI chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931
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G
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Itpr2
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inositol 1,4,5-trisphosphate receptor type 2
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ISO
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ClinVar Annotator: match by term: ITPR2-related condition | ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands
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OMIM ClinVar |
PMID:25329695 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936548:646,019...1,120,426
Ensembl chrNW_004936548:645,925...1,121,888
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G
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Alpk1
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alpha kinase 1
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ISO
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ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 PMID:35868845 More...
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NCBI chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257
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