Evidence Details for HDHD1


Gene Symbol: | HDHD1 ( DXF68S1E,FAM16AX,GS1,HDHD1A ) |
---|---|
Gene Full Name: | haloacid dehalogenase-like hydrolase domain containing 1 |
Band: | Xp22.32 |
Quick Links | Entrez ID:8226; OMIM: 306480; Uniprot ID:HDHD1_HUMAN; ENSEMBL ID: ENSG00000130021; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |


>HDHD1|8226|nucleotide
ATGGCGGCGCCCCCGCAGCCCGTCACCCACCTCATCTTTGACATGGACGGACTTCTTCTGGGTTATACAGGAAGCATAGTGGCAGCTGCTTCGGGGGAGTCCTCA
AGAGGCTTACAATCACGGTGGACGGATACTGAACGGCTGTATTCAGTGGTGTTTCAAGAAATATGTAATCGCTATGACAAGAAATACAGCTGGGATGTAAAGTCC
CTGGTTATGGGTAAGAAGGCATTAGAGGCGGCACAGATTATAATAGACGTCTTGCAGCTCCCGATGTCCAAAGAGGAGCTGGTGGAAGAAAGCCAAACGAAGTTA
AAGGAAGTGTTCCCCACGGCTGCGCTCATGCCAGGGGCGGAGAAACTCATCATCCACCTGCGGAAACATGGCATCCCCTTTGCACTGGCCACCAGCTCGGGGTCC
GCGTCGTTCGATATGAAGACAAGCCGCCACAAGGAGTTCTTCAGCTTGTTTTCCCACATTGTGCTGGGAGATGACCCCGAAGTGCAGCATGGCAAGCCAGACCCG
GACATCTTCCTAGCTTGTGCCAAGAGGTTCTCTCCCCCTCCTGCTATGGAGAAGTGCCTTGTCTTTGAAGATGCTCCCAATGGGGTGGAGGCGGCCCTGGCAGCT
GGGATGCAGGTGGTCATGGTTCCTGACGGAAACTTGAGCCGAGATCTGACAACAAAGGCCACCCTGGTGCTGAATTCCCTGCAGGACTTCCAGCCCGAGCTGTTT
GGTTTGCCCTCCTATGAGTGA
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ATGGCGGCGCCCCCGCAGCCCGTCACCCACCTCATCTTTGACATGGACGGACTTCTTCTGGGTTATACAGGAAGCATAGTGGCAGCTGCTTCGGGGGAGTCCTCA
AGAGGCTTACAATCACGGTGGACGGATACTGAACGGCTGTATTCAGTGGTGTTTCAAGAAATATGTAATCGCTATGACAAGAAATACAGCTGGGATGTAAAGTCC
CTGGTTATGGGTAAGAAGGCATTAGAGGCGGCACAGATTATAATAGACGTCTTGCAGCTCCCGATGTCCAAAGAGGAGCTGGTGGAAGAAAGCCAAACGAAGTTA
AAGGAAGTGTTCCCCACGGCTGCGCTCATGCCAGGGGCGGAGAAACTCATCATCCACCTGCGGAAACATGGCATCCCCTTTGCACTGGCCACCAGCTCGGGGTCC
GCGTCGTTCGATATGAAGACAAGCCGCCACAAGGAGTTCTTCAGCTTGTTTTCCCACATTGTGCTGGGAGATGACCCCGAAGTGCAGCATGGCAAGCCAGACCCG
GACATCTTCCTAGCTTGTGCCAAGAGGTTCTCTCCCCCTCCTGCTATGGAGAAGTGCCTTGTCTTTGAAGATGCTCCCAATGGGGTGGAGGCGGCCCTGGCAGCT
GGGATGCAGGTGGTCATGGTTCCTGACGGAAACTTGAGCCGAGATCTGACAACAAAGGCCACCCTGGTGCTGAATTCCCTGCAGGACTTCCAGCCCGAGCTGTTT
GGTTTGCCCTCCTATGAGTGA
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Thomas, 1999 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 3 | - | 3 |
Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Vazna, 2010 | Czech | aCGH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Quintela I, 2015 | - | - | - | - | autistic disorder | - | - | - | - | 1 | - | 1 |














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