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G |
Amotl1 |
angiomotin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33026150 PMID:36751037 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Cemip2 |
cell migration inducing hyaluronidase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
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NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
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G |
Col11a1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:8364588 PMID:25741868 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Col5a1 |
collagen type V alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Ctr9 |
CTR9 homolog, Paf1/RNA polymerase II complex component |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303
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G |
Efnb1 |
ephrin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15166289 |
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NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157
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G |
Eln |
elastin |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29555671 PMID:29907982 PMID:31589614 More...
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NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:25741868 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 PMID:23754559 PMID:25271085 PMID:25741868 PMID:27228464 PMID:27683237 PMID:28492532 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Foxc1 |
forkhead box C1 |
|
ISO |
associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) |
RGD |
PMID:17653043 |
RGD:12904051 |
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Mid1 |
midline 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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G |
Mllt1 |
MLLT1, super elongation complex subunit |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
|
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NCBI chr 9:1,731,077...1,775,985
Ensembl chr 9:1,731,080...1,775,970
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-atp8 |
mitochondrially encoded ATP synthase membrane subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-co2 |
mitochondrially encoded cytochrome c oxidase II |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Mt-nd2 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G |
Mt-nd3 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mt-nd4l |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G |
Mt-nd5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
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NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G |
Myh10 |
myosin heavy chain 10 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
|
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NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:12464997 PMID:12807965 PMID:15942875 PMID:17565729 PMID:18414213 PMID:21196496 PMID:24412544 PMID:25741868 PMID:26690673 PMID:27834868 PMID:28492532 PMID:30719864 More...
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Pax6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:25741868 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 PMID:29473937 PMID:31535386 PMID:35904974 More...
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NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:31568861 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pogz |
pogo transposable element derived with ZNF domain |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
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G |
Rab5if |
RAB5 interacting factor |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:24194475 PMID:35614220 |
|
NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012
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G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17895320 PMID:17963006 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28873162 PMID:29656518 PMID:30660595 PMID:31510104 PMID:34629742 PMID:34881033 More...
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Rit1 |
Ras-like without CAAX 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 PMID:28554332 PMID:29734338 More...
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NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Slc12a6 |
solute carrier family 12, member 6 |
|
ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:12368912 PMID:16606917 PMID:25741868 PMID:28492532 |
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NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
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Tfap2a |
transcription factor AP-2 alpha |
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ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:25741868 |
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NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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G |
Tfap2b |
transcription factor AP-2 beta |
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ISO |
ClinVar Annotator: match by term: Hypertelorism |
ClinVar |
PMID:2010091 PMID:10802654 PMID:11505339 PMID:25741868 |
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NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
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Twist2 |
twist family bHLH transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Barber-Say syndrome |
OMIM CTD ClinVar |
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 PMID:20799330 PMID:20830793 PMID:25741868 PMID:26119818 PMID:27092433 PMID:28680619 More...
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NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Alx3 |
ALX homeobox 3 |
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ISO |
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OMIM |
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NCBI chr 2:195,231,197...195,241,609
Ensembl chr 2:195,231,197...195,241,609
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Alx4 |
ALX homeobox 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 2 |
ClinVar OMIM |
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 |
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NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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G |
Alx1 |
ALX homeobox 1 |
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ISO ISS |
ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM:613456 |
OMIM ClinVar MouseDO |
PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 |
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NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Irx5 |
iroquois homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hamamy syndrome |
OMIM CTD ClinVar |
PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 |
ClinVar |
PMID:25326635 PMID:25741868 PMID:31256876 |
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NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 |
ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
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NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 |
ClinVar |
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NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
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ISO |
DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME |
OMIM ClinVar RGD |
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840 PMID:20802478 More...
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RGD:243048420 |
NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
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Foxc1 |
forkhead box C1 |
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ISO |
ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Ccdc85c |
coiled-coil domain containing 85C |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
ClinVar |
PMID:25741868 PMID:38177409 |
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NCBI chr 6:127,113,440...127,184,328
Ensembl chr 6:127,113,442...127,184,371
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Ccnk |
cyclin K |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies |
OMIM ClinVar |
PMID:25741868 PMID:30122539 PMID:38177409 |
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NCBI chr 6:127,090,115...127,113,195
Ensembl chr 6:127,090,569...127,113,191
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Frem1 |
Fras1 related extracellular matrix 1 |
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ISO |
ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome DNA:mutation:splice junction: DNA:deletion,frameshift,missense mutations:exons,cds: CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:11332973 PMID:17352387 PMID:17576681 PMID:19732862 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532 PMID:21507892 PMID:21507892 More...
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RGD:11070482, RGD:11070482 |
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Mid1 |
midline 1 |
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ISO ISS |
OMIM:300000 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I |
OMIM MouseDO CTD ClinVar |
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Esco2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:frameshift mutations, missense mutation, nonsense mutation:multiple |
OMIM ClinVar CTD RGD |
PMID:495649 PMID:1642282 PMID:3740099 PMID:15821733 PMID:16199547 PMID:16380922 PMID:16775838 PMID:18186147 PMID:18411254 PMID:18414213 PMID:19574259 PMID:19738907 PMID:20101700 PMID:20301332 PMID:24864645 PMID:25741868 PMID:26710928 PMID:28492532 PMID:30508616 PMID:30590172 PMID:31192177 PMID:31976146 PMID:18186147 PMID:15821733 More...
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RGD:11535978, RGD:11535977 |
NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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Ankh |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type |
ClinVar |
PMID:25741868 |
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NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
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Gja1 |
gap junction protein, alpha 1 |
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ISO |
DNA:missense mutation: :c.716G>A (p.R239Q) (human) |
RGD |
PMID:23951358 |
RGD:8662399 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Otulin |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type |
ClinVar |
PMID:25741868 |
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NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8818947 PMID:18297069 PMID:25741868 PMID:36474027 |
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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Star |
steroidogenic acute regulatory protein |
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ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome |
ClinVar |
PMID:8948562 PMID:16968793 PMID:18729825 PMID:21647419 PMID:23920000 PMID:25741868 PMID:26467025 PMID:26523528 PMID:28467518 PMID:28492532 More...
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NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome |
ClinVar |
PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 PMID:28492532 PMID:30472488 PMID:31953237 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Mid1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: Opitz-Frias syndrome |
ClinVar |
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO ISS |
ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 OMIM:145420 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 PMID:31953237 PMID:32954677 PMID:36474027 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Cdh11 |
cadherin 11 |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:33811546 |
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NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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