|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8560
|
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Delta 4-desaturase, sphingolipid 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
DEGS1 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
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DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD |
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Chromosome
Chromosome number
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1 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q42.11 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Leukodystrophy |
Leukodystrophy, hypomyelinating, 18, leukodystrophy |
rs1367958450, rs932183417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552 |
N/A |
|
|
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.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
35560527 |
| Breast Neoplasms |
Associate
|
37122728 |
| Carcinoma Hepatocellular |
Associate
|
39447728 |
| Coronary Artery Disease |
Associate
|
37298446 |
| Demyelinating Diseases |
Associate
|
30620338 |
| Developmental Disabilities |
Associate
|
37890668 |
| Epilepsy |
Associate
|
34555062, 37890668 |
| Heart Valve Diseases |
Associate
|
37298446 |
| Heredodegenerative Disorders Nervous System |
Associate
|
31186544 |
| Hypoxia |
Associate
|
34332565 |
| Intellectual Disability |
Associate
|
37890668 |
| Leukodystrophy Metachromatic |
Associate
|
37890668 |
| Lung Diseases |
Associate
|
34332565 |
| Lymphatic Metastasis |
Stimulate
|
37122728 |
| Neoplasm Metastasis |
Associate
|
27669432 |
| Neurologic Manifestations |
Associate
|
30620338, 31186544 |
| Niemann Pick Disease Type C |
Associate
|
40294966 |
| Ovarian Neoplasms |
Associate
|
34488809 |
| Pelizaeus Merzbacher like disease autosomal recessive 2 |
Associate
|
33597727, 37890668 |
| Peripheral Nervous System Diseases |
Associate
|
30620338 |
| Prostatic Neoplasms |
Associate
|
26934645, 27669432 |
| Pulmonary Arterial Hypertension |
Associate
|
34332565 |
| Sphingolipidoses |
Associate
|
30620338, 31186544 |
|