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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84188
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Fatty acyl-CoA reductase 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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FAR1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CSPSD, MLSTD2, PFCRD, SDR10E1 |
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Chromosome
Chromosome number
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11 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11p15.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Fatty Acyl-CoA Reductase Deficiency |
fatty acyl-coa reductase 1 deficiency |
rs727502796, rs724159962, rs724159963, rs1591268116 |
N/A |
| Cataract |
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY |
rs1057517926, rs12799308 |
N/A |
|
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Spastic Paraplegia |
hereditary spastic paraplegia 9A |
N/A |
N/A |
GenCC |
|
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Associations from Text Mining
Disease associations identified through Pubtator
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| Disease Name |
Relationship Type |
References |
| Cataract |
Associate
|
25439727, 33239752 |
| Cerebral Palsy |
Associate
|
33239752 |
| Chondrodysplasia Punctata Rhizomelic |
Associate
|
25439727 |
| Developmental Disabilities |
Associate
|
33239752 |
| Epilepsy |
Associate
|
25439727 |
| Genetic Diseases Inborn |
Associate
|
33239752 |
| Immunologic Deficiency Syndromes |
Associate
|
33239752 |
| Immunologic Deficiency Syndromes |
Inhibit
|
33239752 |
| Intellectual Disability |
Associate
|
25439727 |
| Microcephaly |
Associate
|
25439727 |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
Inhibit
|
25439727 |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
Associate
|
25439727 |
| Muscle Hypotonia |
Associate
|
33239752 |
| Muscle Spasticity |
Associate
|
25439727 |
| Nervous System Diseases |
Associate
|
33239752 |
| Paraparesis Spastic |
Associate
|
33239752 |
| Spastic Paraplegia Hereditary |
Associate
|
33239752 |
|