|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10166
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Solute carrier family 25 member 15 |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SLC25A15 |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
D13S327, HHH, LNC-HC, ORC1, ORNT1 |
|
Chromosome
Chromosome number
|
13 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
13q14.11 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and function |
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
rs104894429, rs1064793683, rs104894430, rs1448259297, rs104894431, rs121908533, rs1566123619, rs121908534, rs1480063127, rs121908535, rs200873328, rs121908536, rs1566121215, rs199894905, rs780201405, rs141028076, rs1882127556, rs202247805, rs202247803, rs202247807 View all (5 more) |
N/A |
| cardiac arrhythmia |
Cardiac arrhythmia |
rs1448259297 |
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 |
| Mental retardation |
intellectual disability |
N/A |
N/A |
ClinVar |
|
|
|