Evidence Details for SORD
Basic Information Top
| Gene Symbol: | SORD ( SORD1 ) |
|---|---|
| Gene Full Name: | sorbitol dehydrogenase |
| Band: | 15q21.1 |
| Quick Links | Entrez ID:6652; OMIM: 182500; Uniprot ID:DHSO_HUMAN; ENSEMBL ID: ENSG00000140263; HGNC ID: 11184 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SORD|6652|nucleotide
ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGGAGAACTATCCTATCCCTGAACCAGGCCCAAATGAGGTC
TTGCTGAGGATGCATTCTGTTGGAATCTGTGGCTCAGATGTCCACTACTGGGAGTATGGTCGAATTGGGAATTTTATTGTGAAAAAGCCCATGGTGCTGGGACAT
GAAGCTTCGGGAACAGTCGAAAAAGTGGGATCATCGGTAAAGCACCTAAAACCAGGTGATCGTGTTGCCATCGAGCCTGGTGCTCCCCGAGAAAATGATGAATTC
TGCAAGATGGGCCGATACAATCTGTCACCTTCCATCTTCTTCTGTGCCACGCCCCCCGATGACGGGAACCTCTGCCGGTTCTATAAGCACAATGCAGCCTTTTGT
TACAAGCTTCCTGACAATGTCACCTTTGAGGAAGGCGCCCTGATCGAGCCACTTTCTGTGGGGATCCATGCCTGCAGGAGAGGCGGAGTTACCCTGGGACACAAG
GTCCTTGTGTGTGGAGCTGGGCCAATCGGGATGGTCACTTTGCTCGTGGCCAAAGCAATGGGAGCAGCTCAAGTAGTGGTGACTGATCTGTCTGCTACCCGATTG
TCCAAAGCCAAGGAGATTGGGGCTGATTTAGTCCTCCAGATCTCCAAGGAGAGCCCTCAGGAAATCGCCAGGAAAGTAGAAGGTCAGCTGGGGTGCAAGCCGGAA
GTCACCATCGAGTGCACGGGGGCAGAGGCCTCCATCCAGGCGGGCATCTACGCCACTCGCTCTGGTGGGAACCTCGTGCTTGTGGGGCTGGGCTCTGAGATGACC
ACCGTACCCCTACTGCATGCAGCCATCCGGGAGGTGGATATCAAGGGCGTGTTTCGATACTGCAACACGTGGCCAGTGGCGATTTCGATGCTTGCGTCCAAGTCT
GTGAATGTAAAACCCCTCGTCACCCATAGGTTTCCTCTGGAGAAAGCTCTGGAGGCCTTTGAAACATTTAAAAAGGGATTGGGGTTGAAAATCATGCTCAAGTGT
GACCCCAGTGACCAGAATCCCTGA
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ATGGCGGCGGCGGCCAAGCCCAACAACCTTTCCCTGGTGGTGCACGGACCGGGGGACTTGCGCCTGGAGAACTATCCTATCCCTGAACCAGGCCCAAATGAGGTC
TTGCTGAGGATGCATTCTGTTGGAATCTGTGGCTCAGATGTCCACTACTGGGAGTATGGTCGAATTGGGAATTTTATTGTGAAAAAGCCCATGGTGCTGGGACAT
GAAGCTTCGGGAACAGTCGAAAAAGTGGGATCATCGGTAAAGCACCTAAAACCAGGTGATCGTGTTGCCATCGAGCCTGGTGCTCCCCGAGAAAATGATGAATTC
TGCAAGATGGGCCGATACAATCTGTCACCTTCCATCTTCTTCTGTGCCACGCCCCCCGATGACGGGAACCTCTGCCGGTTCTATAAGCACAATGCAGCCTTTTGT
TACAAGCTTCCTGACAATGTCACCTTTGAGGAAGGCGCCCTGATCGAGCCACTTTCTGTGGGGATCCATGCCTGCAGGAGAGGCGGAGTTACCCTGGGACACAAG
GTCCTTGTGTGTGGAGCTGGGCCAATCGGGATGGTCACTTTGCTCGTGGCCAAAGCAATGGGAGCAGCTCAAGTAGTGGTGACTGATCTGTCTGCTACCCGATTG
TCCAAAGCCAAGGAGATTGGGGCTGATTTAGTCCTCCAGATCTCCAAGGAGAGCCCTCAGGAAATCGCCAGGAAAGTAGAAGGTCAGCTGGGGTGCAAGCCGGAA
GTCACCATCGAGTGCACGGGGGCAGAGGCCTCCATCCAGGCGGGCATCTACGCCACTCGCTCTGGTGGGAACCTCGTGCTTGTGGGGCTGGGCTCTGAGATGACC
ACCGTACCCCTACTGCATGCAGCCATCCGGGAGGTGGATATCAAGGGCGTGTTTCGATACTGCAACACGTGGCCAGTGGCGATTTCGATGCTTGCGTCCAAGTCT
GTGAATGTAAAACCCCTCGTCACCCATAGGTTTCCTCTGGAGAAAGCTCTGGAGGCCTTTGAAACATTTAAAAAGGGATTGGGGTTGAAAATCATGCTCAAGTGT
GACCCCAGTGACCAGAATCCCTGA
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>SORD|6652|protein
MAAAAKPNNLSLVVHGPGDLRLENYPIPEPGPNEVLLRMHSVGICGSDVHYWEYGRIGNFIVKKPMVLGHEASGTVEKVGSSVKHLKPGDRVAIEPGAPRENDEF
CKMGRYNLSPSIFFCATPPDDGNLCRFYKHNAAFCYKLPDNVTFEEGALIEPLSVGIHACRRGGVTLGHKVLVCGAGPIGMVTLLVAKAMGAAQVVVTDLSATRL
SKAKEIGADLVLQISKESPQEIARKVEGQLGCKPEVTIECTGAEASIQAGIYATRSGGNLVLVGLGSEMTTVPLLHAAIREVDIKGVFRYCNTWPVAISMLASKS
VNVKPLVTHRFPLEKALEAFETFKKGLGLKIMLKCDPSDQNP
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MAAAAKPNNLSLVVHGPGDLRLENYPIPEPGPNEVLLRMHSVGICGSDVHYWEYGRIGNFIVKKPMVLGHEASGTVEKVGSSVKHLKPGDRVAIEPGAPRENDEF
CKMGRYNLSPSIFFCATPPDDGNLCRFYKHNAAFCYKLPDNVTFEEGALIEPLSVGIHACRRGGVTLGHKVLVCGAGPIGMVTLLVAKAMGAAQVVVTDLSATRL
SKAKEIGADLVLQISKESPQEIARKVEGQLGCKPEVTIECTGAEASIQAGIYATRSGGNLVLVGLGSEMTTVPLLHAAIREVDIKGVFRYCNTWPVAISMLASKS
VNVKPLVTHRFPLEKALEAFETFKKGLGLKIMLKCDPSDQNP
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top