Evidence Detail for BLMH
Basic Information Top
| Gene Symbol: | BLMH ( BH,BMH ) |
|---|---|
| Gene Full Name: | bleomycin hydrolase |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:642; OMIM: 602403; Uniprot ID:BLMH_HUMAN; ENSEMBL ID: ENSG00000108578 |
Sequences Top Evidence Statistic 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 | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 0 (0) | 2 (6) | 1 (1) | 0 (0) | 6 (8) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Kim, 2002_1 | USA | 2 (detail) | 115 | 115 (14.78%) |  | | AD | 7.1±5.2 - |
77.9±24.5 - | |
Case Control Based Association Studies: 0
| Reference | Population | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
||||
| No Evidence. | |||||||||||
Genome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.03484 | Up | 36.649 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies TopLinkage Studies Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P_Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000008 | 17q11.2 | 17 | D17S1294 | 2.85 | - | - | McCauley, 2005 |
| AutLD0000016 | 17q11.2 | 17 | D17S1800 | 2.83 | - | - | Yonan, 2003 |
| AutLD0000039 | 17q11.2 | 17 | HTTINT2 | 2.34 | - | - | Monaco, 2001 |
| AutLD0000108 | 17q11.2 | 17 | D17S1294 | - | 2.39 | - | Ylisaukko-oja, 2006 |
| AutLD0000118 | 17q11.2 | 17 | - | - | 2.1 | - | Spence, 2006 |
| AutLD0000148 | 17q11.2 | 17 | D17S1800 | 5.82 | 4.88 | 0.000000159 | Sutcliffe, 2005 |
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