PedAM
Pediatric Disease Annotations & Medicines
| glycine encephalopathy | ||||
| Disease ID | 172 |
|---|---|
| Disease | glycine encephalopathy |
| Definition | An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system. |
| Synonym | disorder of glycine cleavage enzyme complex encephalopathies, glycine encephalopathy, glycine gce glycine encephalopathies hyperglycinemia, non-ketotic hyperglycinemia, nonketotic hyperglycinemia, nonketotic [disease/finding] hyperglycinemias, non-ketotic hyperglycinemias, nonketotic nkh nkh - non-ketotic hyperglycinaemia nkh - non-ketotic hyperglycinemia non ketotic hyperglycinaemia non ketotic hyperglycinemia non-ketotic hyperglycinaemia non-ketotic hyperglycinemia non-ketotic hyperglycinemia (disorder) non-ketotic hyperglycinemias nonketotic hyperglycinemia nonketotic hyperglycinemias |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0751748 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:88) 3028 | HSD17B10 | DISEASES 440 | ASNS | DISEASES 1738 | DLD | DISEASES 79152 | FA2H | DISEASES 55163 | PNPO | DISEASES 23229 | ARHGEF9 | DISEASES 4608 | MYBPH | DISEASES 23314 | SATB2 | DISEASES 11019 | LIAS | DISEASES 217 | ALDH2 | DISEASES 23417 | MLYCD | DISEASES 5605 | MAP2K2 | DISEASES 10000 | AKT3 | DISEASES 57575 | PCDH10 | DISEASES 2743 | GLRB | DISEASES 6821 | SUOX | DISEASES 3073 | HEXA | DISEASES 5428 | POLG | DISEASES 5373 | PMM2 | DISEASES 23126 | POGZ | DISEASES 275 | AMT | DISEASES 84276 | NICN1 | DISEASES 80224 | NUBPL | DISEASES 26040 | SETBP1 | DISEASES 6326 | SCN2A | DISEASES 8659 | ALDH4A1 | DISEASES 1742 | DLG4 | DISEASES 9839 | ZEB2 | DISEASES 6323 | SCN1A | DISEASES 57215 | THAP11 | DISEASES 2752 | GLUL | DISEASES 387787 | LIPT2 | DISEASES 48 | ACO1 | DISEASES 2653 | GCSH | DISEASES 6888 | TALDO1 | DISEASES 348932 | SLC6A18 | DISEASES 51218 | GLRX5 | DISEASES 84679 | SLC9A7 | DISEASES 388962 | BOLA3 | DISEASES 2903 | GRIN2A | DISEASES 219541 | MED19 | DISEASES 1431 | CS | DISEASES 51601 | LIPT1 | DISEASES 875 | CBS | DISEASES 6334 | SCN8A | DISEASES 4948 | OCA2 | DISEASES 1644 | DDC | DISEASES 3785 | KCNQ2 | DISEASES 55503 | TRPV6 | DISEASES 5575 | PRKAR1B | DISEASES 6536 | SLC6A9 | DISEASES 2271 | FH | DISEASES 200205 | IBA57 | DISEASES 55811 | ADCY10 | DISEASES 4942 | OAT | DISEASES 26227 | PHGDH | DISEASES 10479 | SLC9A6 | DISEASES 1491 | CTH | DISEASES 1557 | CYP2C19 | DISEASES 6834 | SURF1 | DISEASES 57526 | PCDH19 | DISEASES 6812 | STXBP1 | DISEASES 546 | ATRX | DISEASES 2170 | FABP3 | DISEASES 3155 | HMGCL | DISEASES 8242 | KDM5C | DISEASES 415 | ARSE | DISEASES 2731 | GLDC | DISEASES 2235 | FECH | DISEASES 2617 | GARS | DISEASES 4099 | MAG | DISEASES 51347 | TAOK3 | DISEASES 5091 | PC | DISEASES 152789 | JAKMIP1 | DISEASES 501 | ALDH7A1 | DISEASES 27247 | NFU1 | DISEASES 132158 | GLYCTK | DISEASES 8890 | EIF2B4 | DISEASES 3908 | LAMA2 | DISEASES 34 | ACADM | DISEASES 2566 | GABRG2 | DISEASES 2741 | GLRA1 | DISEASES 6513 | SLC2A1 | DISEASES 10243 | GPHN | DISEASES 2638 | GC | DISEASES 9152 | SLC6A5 | DISEASES 5053 | PAH | DISEASES 2108 | ETFA | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 172 |
|---|---|
| Disease | glycine encephalopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0002079 | Hypoplasia of the corpus callosum HP:0001254 | Lethargy HP:0010851 | EEG with burst suppression HP:0012705 | Abnormal metabolic brain imaging by MRS HP:0005972 | Respiratory acidosis HP:0001250 | Seizures HP:0100247 | Recurrent singultus HP:0005957 | Breathing dysregulation HP:0002033 | Poor suck HP:0002353 | EEG abnormality HP:0002123 | Generalized myoclonic seizures HP:0002154 | Hyperglycinemia HP:0011398 | Central hypotonia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 172 |
|---|---|
| Disease | glycine encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:112) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116192290 | 10873393 | 275 | AMT | umls:C0751748 | UNIPROT | Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. | 0.363181358 | 2000 | AMT | 3 | 49419325 | C | T |
| rs121964974 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6588417 | C | A |
| rs121964975 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554716 | GAA | - |
| rs121964976 | 11286506 | 2731 | GLDC | umls:C0751748 | UNIPROT | Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). | 0.374601779 | 2001 | GLDC | 9 | 6589230 | C | T,G |
| rs121964976 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6589230 | C | T,G |
| rs121964977 | 15236413 | 2731 | GLDC | umls:C0751748 | BeFree | Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. | 0.374601779 | 2004 | GLDC | 9 | 6553420 | G | A |
| rs121964977 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553420 | G | A |
| rs121964978 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6645498 | A | G |
| rs121964979 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6595109 | G | A |
| rs121964980 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554768 | C | T |
| rs121964981 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49419042 | C | T |
| rs121964982 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT;NICN1 | 3 | 49422223 | C | T,A |
| rs121964983 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT;NICN1 | 3 | 49422237 | T | C |
| rs121964984 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49419022 | C | G |
| rs121964985 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49417892 | C | T |
| rs121964986 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49419382 | G | A |
| rs181134220 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49417974 | C | T |
| rs386833516 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604643 | - | A |
| rs386833517 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604637 | G | C,A |
| rs386833518 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604592 | T | - |
| rs386833519 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6602153 | G | C |
| rs386833520 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6595100 | G | - |
| rs386833521 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592982 | G | A |
| rs386833522 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592966 | - | TTTG |
| rs386833523 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592933 | A | T |
| rs386833524 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592870 | C | T |
| rs386833525 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592224 | C | G |
| rs386833526 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6592180 | - | C |
| rs386833527 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6588688 | G | C |
| rs386833528 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6588686 | T | A |
| rs386833529 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6588629 | T | C |
| rs386833530 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6645324 | C | G |
| rs386833531 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6587205 | G | A |
| rs386833532 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6587159 | ACCTGGTCATA | - |
| rs386833533 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6587159 | A | C |
| rs386833534 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6565353 | C | T |
| rs386833535 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6558680 | C | A |
| rs386833536 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6558659 | T | C |
| rs386833537 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6558615 | G | A |
| rs386833538 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556275 | C | G |
| rs386833539 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556257 | G | C |
| rs386833540 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556250 | G | A |
| rs386833541 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556200 | GAT | TAAACCAGGA |
| rs386833542 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556173 | C | G |
| rs386833543 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556169 | G | - |
| rs386833544 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6556159 | A | T |
| rs386833545 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554783 | T | C |
| rs386833546 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554770 | AC | - |
| rs386833547 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554726 | T | G |
| rs386833549 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554703 | C | T,G |
| rs386833550 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554700 | C | T |
| rs386833551 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554691 | G | A |
| rs386833552 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554678 | G | A |
| rs386833553 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6554673 | C | T |
| rs386833554 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553510 | C | T |
| rs386833555 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553501 | T | C |
| rs386833556 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553457 | G | A |
| rs386833557 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553411 | C | T |
| rs386833558 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6553403 | T | - |
| rs386833559 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6645255 | A | C |
| rs386833560 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6550883 | G | A |
| rs386833561 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6550853 | A | T |
| rs386833562 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6550851 | C | G |
| rs386833563 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6645244 | C | T |
| rs386833564 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6540142 | A | G,C |
| rs386833565 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6540109 | G | T |
| rs386833566 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6540077 | T | A |
| rs386833567 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6540060 | G | A |
| rs386833568 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6536059 | C | T |
| rs386833569 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534789 | C | G |
| rs386833570 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534781 | G | A |
| rs386833571 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534758 | A | G |
| rs386833572 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534735 | - | T |
| rs386833573 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534731 | T | C |
| rs386833574 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6645472 | G | - |
| rs386833575 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6534707 | C | T |
| rs386833576 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6620259 | G | C,A |
| rs386833577 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6620241 | T | A |
| rs386833578 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6620205 | T | G |
| rs386833579 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6620197 | C | A |
| rs386833580 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6610345 | T | C |
| rs386833581 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6610314 | C | G |
| rs386833582 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6610267 | G | T |
| rs386833583 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6610222 | G | A |
| rs386833583 | 21411353 | 3918 | LAMC2 | umls:C0751748 | BeFree | A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. | 0.000542884 | 2011 | GLDC | 9 | 6610222 | G | A |
| rs386833583 | 21411353 | 1437 | CSF2 | umls:C0751748 | BeFree | A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. | 0.000542884 | 2011 | GLDC | 9 | 6610222 | G | A |
| rs386833583 | 21411353 | 2731 | GLDC | umls:C0751748 | BeFree | A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. | 0.374601779 | 2011 | GLDC | 9 | 6610222 | G | A |
| rs386833584 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6610192 | C | T,A |
| rs386833585 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6606599 | G | C,A |
| rs386833586 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6605199 | G | - |
| rs386833587 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6605186 | G | A |
| rs386833588 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6605184 | C | A |
| rs386833589 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6605145 | C | G |
| rs386833590 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6605130 | C | A |
| rs386833591 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604759 | A | C |
| rs386833592 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604709 | C | T,G,A |
| rs386833593 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6604661 | G | T |
| rs386833678 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT;NICN1 | 3 | 49422214 | C | - |
| rs386833679 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT;NICN1 | 3 | 49422145 | G | A |
| rs386833680 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT;NICN1 | 3 | 49422132 | G | A |
| rs386833681 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49421573 | C | G |
| rs386833682 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49420248 | T | A |
| rs386833683 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49420216 | TGAGGGCCAAATCTT | - |
| rs386833684 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49420209 | A | G |
| rs386833685 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49419725 | G | - |
| rs386833689 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49419282 | T | C |
| rs386833690 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49417964 | C | T |
| rs386833691 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49417879 | CAT | - |
| rs386833692 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49417868 | GC | A |
| rs386833859 | NA | 2653 | GCSH | umls:C0751748 | CLINVAR | NA | 0.243452799 | NA | GCSH | 16 | 81082964 | C | A |
| rs772871471 | NA | 2731 | GLDC | umls:C0751748 | CLINVAR | NA | 0.374601779 | NA | GLDC | 9 | 6587249 | G | C |
| rs797045082 | NA | 275 | AMT | umls:C0751748 | CLINVAR | NA | 0.363181358 | NA | AMT | 3 | 49418978 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0751748 | leucovorin | D002955 | 1958/5/9 | hyperglycinemia, nonketotic | MESH:D020158 | therapeutic | 6264089 | ||
| C0751748 | glycine | D005998 | 56-40-6 | hyperglycinemia, nonketotic | MESH:D020158 | marker/mechanism | 16404748 | ||
| C0751748 | dextromethorphan | D003915 | 125-71-3 | hyperglycinemia, nonketotic | MESH:D020158 | therapeutic | 1385627 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |