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G |
Aebp2 |
AE binding protein 2 |
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ISS |
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MouseDO |
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NCBI chr 4:173,527,881...173,566,033
Ensembl chr 4:173,528,344...173,593,100
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G |
Edn3 |
endothelin 3 |
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ISO |
Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:deletion:exon ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar RGD |
PMID:8630502 |
RGD:1601001 |
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
Waardenburg-Shah syndrome (WS4), OMIM:277580;DNA:point mutation:exon:A183G ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar RGD |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:8634719 |
RGD:1601006 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Mitf |
melanocyte inducing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar RGD |
PMID:30311386 PMID:8589691 |
RGD:1599944 |
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Pax3 |
paired box 3 |
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ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations |
CTD ClinVar RGD |
PMID:1308353 PMID:1349198 PMID:8447316 PMID:8533800 PMID:8589691 PMID:8863157 PMID:9017978 PMID:9302254 PMID:9584079 PMID:9654197 PMID:9856573 PMID:12414908 PMID:18553554 PMID:20127975 PMID:20301703 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24651602 PMID:25736269 PMID:25741868 PMID:26467025 PMID:26512583 PMID:28492532 PMID:29407415 PMID:30311386 PMID:34142234 PMID:8589691 PMID:12949970 More...
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RGD:1599944, RGD:1580943 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar |
PMID:9462749 PMID:17999358 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Snai2 |
snail family transcriptional repressor 2 |
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ISS |
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MouseDO |
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NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
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G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar |
PMID:9462749 PMID:17999358 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
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NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: ABCD syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:7778600 PMID:8001159 PMID:10528251 PMID:11891690 PMID:20127975 PMID:24033266 PMID:25741868 PMID:26100139 PMID:26467025 PMID:28492532 PMID:30394532 More...
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Smoc1 |
SPARC related modular calcium binding 1 |
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ISO ISS |
OMIM:206920 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microphthalmia with limb anomalies |
OMIM MouseDO CTD ClinVar |
PMID:19208380 PMID:21194678 PMID:21194680 PMID:23646827 PMID:25741868 PMID:28085523 PMID:28492532 More...
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NCBI chr 6:100,701,330...100,897,441
Ensembl chr 6:100,701,346...100,862,699
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G |
Mpz |
myelin protein zero |
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ISS |
OMIM:609136 |
MouseDO |
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
ClinVar |
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 More...
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
severity |
ISO ISS |
ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease OMIM:609136 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 PMID:25959061 More...
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RGD:12802339 |
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Mende Syndrome |
ClinVar |
PMID:25741868 PMID:30311386 |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Pax3 |
paired box 3 |
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ISO |
ClinVar Annotator: match by term: Mende Syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Mende Syndrome |
ClinVar |
PMID:17999358 PMID:20127975 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Mende Syndrome |
ClinVar |
PMID:17999358 PMID:20127975 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Mitf |
melanocyte inducing transcription factor |
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ISS ISO |
OMIM:193500 ClinVar Annotator: match by term: Waardenburg syndrome type 1 |
MouseDO ClinVar |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:30394532 PMID:31541171 PMID:32013026 PMID:34142234 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Pax3 |
paired box 3 |
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ISO ISS |
OMIM:193500 ClinVar Annotator: match by term: Waardenburg syndrome type 1 |
OMIM MouseDO ClinVar |
PMID:858969 PMID:1303193 PMID:1308353 PMID:1347148 PMID:1347149 PMID:1887852 PMID:7573125 PMID:7726174 PMID:7897628 PMID:8019556 PMID:8423616 PMID:8447316 PMID:8490648 PMID:8533800 PMID:8589691 PMID:8799378 PMID:8845842 PMID:8863157 PMID:9017978 PMID:9067759 PMID:9232624 PMID:9279758 PMID:9302254 PMID:9584079 PMID:9654197 PMID:9856573 PMID:12414908 PMID:16199547 PMID:18325909 PMID:20127975 PMID:20199465 PMID:20301703 PMID:20478267 PMID:21965087 PMID:23512835 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24651602 PMID:25525159 PMID:25736269 PMID:25741868 PMID:25991456 PMID:26149688 PMID:26275939 PMID:26467025 PMID:27759048 PMID:28381738 PMID:28492532 PMID:28686331 PMID:29407415 PMID:30311386 PMID:30936914 PMID:30978479 PMID:32747562 PMID:34008892 PMID:34599368 More...
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NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 1 |
ClinVar |
PMID:21898658 PMID:28390600 |
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 1 |
ClinVar |
PMID:21898658 PMID:28390600 |
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21373256 PMID:21438779 PMID:25741868 PMID:28492532 PMID:29115496 PMID:30117279 PMID:35802133 PMID:36633841 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Snai2 |
snail family transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2D |
ClinVar |
PMID:12444107 PMID:32975012 |
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NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2A |
ClinVar |
PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 More...
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: Waardenburg syndrome type 2A OMIM:193510 |
CTD OMIM ClinVar MouseDO |
PMID:666627 PMID:2440678 PMID:7874167 PMID:8589691 PMID:8659547 PMID:9158138 PMID:9536098 PMID:9856573 PMID:10587587 PMID:10851256 PMID:15284851 PMID:16199547 PMID:17576681 PMID:20127975 PMID:20478267 PMID:21373256 PMID:21438779 PMID:22012259 PMID:22080950 PMID:22158021 PMID:22320238 PMID:23167872 PMID:23512835 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24194866 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24638154 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25943250 PMID:25975176 PMID:26103950 PMID:26467025 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26850479 PMID:26999813 PMID:27153395 PMID:27473757 PMID:27680874 PMID:27759048 PMID:27889061 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29407415 PMID:29484430 PMID:29506128 PMID:29531335 PMID:29625052 PMID:29706638 PMID:30117279 PMID:30311386 PMID:30394532 PMID:30414346 PMID:30549420 PMID:31213145 PMID:31465090 PMID:31541171 PMID:32013026 PMID:32054529 PMID:32728090 PMID:33051548 PMID:33111345 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34599368 PMID:34662886 PMID:34997062 PMID:35802133 PMID:36451132 PMID:36633841 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2A |
ClinVar |
PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 |
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2A |
ClinVar |
PMID:25741868 PMID:29407415 PMID:30311386 PMID:34599368 |
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9158138 |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement |
ClinVar |
PMID:8911608 PMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 PMID:18348267 PMID:18627047 PMID:19208381 PMID:20478267 PMID:21898658 PMID:21965087 PMID:23237859 PMID:23643381 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28000701 PMID:28492532 PMID:31152317 PMID:31427586 PMID:32853555 PMID:32908489 PMID:33442024 PMID:33597575 PMID:33865100 PMID:34142234 PMID:35802133 PMID:36633841 More...
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:c.621C>A (p.Y207X)(human) DNA:deletion:cds:c.743_744delAG (p.E248fsX30)(human) |
OMIM ClinVar CTD RGD |
PMID:8911608 PMID:10077527 PMID:10441344 PMID:15004559 PMID:17999358 PMID:18348267 PMID:18627047 PMID:19208381 PMID:20478267 PMID:21898658 PMID:21965087 PMID:23237859 PMID:23643381 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28000701 PMID:28492532 PMID:31152317 PMID:31427586 PMID:32853555 PMID:32908489 PMID:33442024 PMID:33597575 PMID:33865100 PMID:34142234 PMID:35802133 PMID:36633841 PMID:25817900 PMID:21965087 More...
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RGD:12832750, RGD:12802337 |
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome, type 2F |
OMIM ClinVar |
PMID:25741868 PMID:28504826 PMID:35543077 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Pax3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 3 |
OMIM ClinVar |
PMID:1536170 PMID:7091186 PMID:7726174 PMID:8019556 PMID:8447316 PMID:11683776 PMID:12949970 PMID:20127975 PMID:23512835 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26275939 PMID:27759048 PMID:28492532 PMID:29407415 PMID:30311386 PMID:30978479 PMID:32747562 PMID:34008892 PMID:34599368 More...
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NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Edn3 |
endothelin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8630502 PMID:8630503 PMID:17516928 |
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NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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G |
Ednrb |
endothelin receptor type B |
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IAGP ISO |
ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly |
ClinVar RGD |
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 PMID:32747562 PMID:21915282 More...
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RGD:6480217 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Ednrbsl |
endothelin receptor type B, spotting lethal |
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IAGP |
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RGD |
PMID:21915282 |
RGD:6480217 |
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G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
DNA:missense mutations,insertion,deletion:cds: |
RGD |
PMID:9462749 |
RGD:12832744 |
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Ednrb |
endothelin receptor type B |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Waardenburg syndrome type 4A OMIM:277580 |
CTD OMIM ClinVar MouseDO |
PMID:7778600 PMID:8001158 PMID:8001159 PMID:8634719 PMID:8852659 PMID:8852660 PMID:10090908 PMID:10458491 PMID:10528251 PMID:10664228 PMID:10874640 PMID:11891690 PMID:14633923 PMID:16145050 PMID:16944573 PMID:16954478 PMID:17011274 PMID:18162831 PMID:19320733 PMID:20009762 PMID:20127975 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 PMID:30303587 PMID:30311386 PMID:30394532 PMID:32747562 More...
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 4A |
ClinVar |
PMID:25741868 |
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
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ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 4A |
ClinVar |
PMID:25741868 |
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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G |
Edn3 |
endothelin 3 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Waardenburg syndrome type 4B OMIM:613265 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD |
PMID:8630503 PMID:8696331 PMID:9359047 PMID:9587491 PMID:11303518 PMID:19556619 PMID:19764030 PMID:20583152 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Waardenburg syndrome type 4C |
ClinVar |
PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 PMID:21965087 PMID:24033266 PMID:25741868 PMID:25991456 PMID:27666373 PMID:28492532 PMID:29407415 PMID:30311386 PMID:33442024 PMID:33724713 PMID:34474183 PMID:34599368 PMID:36413997 PMID:38177409 More...
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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G |
Sox10 |
SRY-box transcription factor 10 |
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ISO ISS |
ClinVar Annotator: match by term: Waardenburg syndrome type 4C OMIM:613266 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9462749 PMID:10077527 PMID:15004559 PMID:18348274 PMID:21898658 PMID:21965087 PMID:24033266 PMID:25741868 PMID:25991456 PMID:27666373 PMID:28492532 PMID:29407415 PMID:30311386 PMID:33442024 PMID:33724713 PMID:34474183 PMID:34599368 PMID:36413997 PMID:38177409 More...
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NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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