Male Infertility Database

Search Result

Gene id

55349

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

CHDH Gene UCSC Ensembl

Gene name

choline dehydrogenase

Alternate names

choline dehydrogenase, mitochondrial, CDH, CHD,

Gene location

3p21.1 (53846463: 53812334) Exons: 14 NC_000010.11

Gene summary(Entrez)

The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature o

OMIM

SNPs

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251

Protein Summary

Gene ontology

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GO accession	Term name	Evidence code	Go category

KEGG pathways

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Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01100	Metabolic pathways
hsa00260	Glycine, serine and threonine metabolism

Diseases

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Associated diseases	References
Cancer (breast)	GAD: 18230680
Associated with human sperm cell function	MIK: 22558321
Oral clefts	GAD: 19737740
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with human sperm cell function	MIK: 22558321
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Mutation	Population details	Infertility_type	Associated_genes	Abstract
22558321	Associated with huma n sperm ce ll functio n	rs12676		Male infertility		Show abstract
17327269	Teratozoos permia		13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
21674046	Aberrant C pGs in Low Motility Sperm		18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism		Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism		Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism		Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

Expand All | Collapse All

KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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