eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glycerol kinase deficiency | ||||
| Disease ID | 1022 |
|---|---|
| Disease | glycerol kinase deficiency |
| Definition | A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children. |
| Synonym | deficiency of glycerol kinase deficiency of glycerol kinase (disorder) familial hyperglycerolaemia familial hyperglycerolemia gk deficiency gk1 deficiency gkd gkd - glycerol kinase deficiency glycerol kinase deficiency (disorder) hyperglycerolaemia hyperglycerolemia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268418 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 64400 | AKTIP | 2.205 | DISEASES 229 | ALDOB | 2.269 | DISEASES 7917 | BAG6 | 2.843 | DISEASES 778 | CACNA1F | 2.357 | DISEASES 1028 | CDKN1C | 1.793 | DISEASES 1269 | CNR2 | 3.676 | DISEASES 1756 | DMD | 4.168 | DISEASES 2710 | GK | 6.503 | DISEASES 8518 | IKBKAP | 1.573 | DISEASES 26280 | IL1RAPL2 | 3.963 | DISEASES 51085 | MLXIPL | 2.216 | DISEASES 190 | NR0B1 | 5.59 | DISEASES 2516 | NR5A1 | 1.927 | DISEASES 60506 | NYX | 2.713 | DISEASES 1263 | PLK3 | 2.914 | DISEASES 29968 | PSAT1 | 2.641 | DISEASES 54020 | SLC37A1 | 4.635 | DISEASES 6720 | SREBF1 | 1.166 | DISEASES 6721 | SREBF2 | 2.93 | DISEASES 6776 | STAT5A | 1.075 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1022 |
|---|---|
| Disease | glycerol kinase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1022 |
|---|---|
| Disease | glycerol kinase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs132630328 | NA | 2710 | GK | umls:C0268418 | CLINVAR | NA | 0.362442977 | NA | GK | X | 30720721 | A | T |
| rs132630329 | NA | 2710 | GK | umls:C0268418 | CLINVAR | NA | 0.362442977 | NA | GK | X | 30720639 | C | T |
| rs132630330 | NA | 2710 | GK | umls:C0268418 | CLINVAR | NA | 0.362442977 | NA | GK | X | 30724124 | T | C |
| rs132630331 | NA | 2710 | GK | umls:C0268418 | CLINVAR | NA | 0.362442977 | NA | GK | X | 30707584 | A | G |
| rs587776740 | NA | 2710 | GK | umls:C0268418 | CLINVAR | NA | 0.362442977 | NA | GK | X | 30696041 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1022 |
|---|---|
| Disease | glycerol kinase deficiency |
| Case | (Waiting for update.) |