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G |
ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 |
MouseDO |
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NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
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G |
ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31130284 More...
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NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
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G |
OTULIN |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr34:119,307...159,419
Ensembl chr34:122,274...159,394
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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G |
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 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
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G |
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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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G |
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 chr34:119,307...159,419
Ensembl chr34:122,274...159,394
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