eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glycine encephalopathy | ||||
| Disease ID | 165 |
|---|---|
| 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 | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) |
| 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:54) 34 | ACADM | 2.392 | DISEASES 55811 | ADCY10 | 3.255 | DISEASES 501 | ALDH7A1 | 2.068 | DISEASES 415 | ARSE | 1.85 | DISEASES 546 | ATRX | 1.22 | DISEASES 388962 | BOLA3 | 4.287 | DISEASES 875 | CBS | 2.38 | DISEASES 1431 | CS | 1.876 | DISEASES 1491 | CTH | 1.743 | DISEASES 1557 | CYP2C19 | 1.136 | DISEASES 1644 | DDC | 2.549 | DISEASES 8890 | EIF2B4 | 3.338 | DISEASES 2108 | ETFA | 2.291 | DISEASES 2170 | FABP3 | 1.172 | DISEASES 2235 | FECH | 1.581 | DISEASES 2271 | FH | 1.56 | DISEASES 2566 | GABRG2 | 2.14 | DISEASES 2617 | GARS | 3.337 | DISEASES 2638 | GC | 1.086 | DISEASES 2731 | GLDC | 7.55 | DISEASES 2741 | GLRA1 | 2.591 | DISEASES 51218 | GLRX5 | 5.261 | DISEASES 132158 | GLYCTK | 4.432 | DISEASES 10243 | GPHN | 2.143 | DISEASES 2903 | GRIN2A | 1.172 | DISEASES 3155 | HMGCL | 2.548 | DISEASES 200205 | IBA57 | 3.291 | DISEASES 152789 | JAKMIP1 | 3.554 | DISEASES 3785 | KCNQ2 | 3.398 | DISEASES 8242 | KDM5C | 2.405 | DISEASES 3908 | LAMA2 | 1.464 | DISEASES 51601 | LIPT1 | 4.736 | DISEASES 4099 | MAG | 1.201 | DISEASES 219541 | MED19 | 2.523 | DISEASES 27247 | NFU1 | 2.901 | DISEASES 4942 | OAT | 1.358 | DISEASES 4948 | OCA2 | 5.298 | DISEASES 5053 | PAH | 1.586 | DISEASES 5091 | PC | 1.897 | DISEASES 57526 | PCDH19 | 3.355 | DISEASES 26227 | PHGDH | 1.474 | DISEASES 5575 | PRKAR1B | 2.933 | DISEASES 6334 | SCN8A | 1.984 | DISEASES 6513 | SLC2A1 | 2.377 | DISEASES 348932 | SLC6A18 | 3.04 | DISEASES 9152 | SLC6A5 | 4.172 | DISEASES 6536 | SLC6A9 | 4.534 | DISEASES 10479 | SLC9A6 | 2.537 | DISEASES 84679 | SLC9A7 | 2.79 | DISEASES 6812 | STXBP1 | 2.135 | DISEASES 6834 | SURF1 | 2.081 | DISEASES 6888 | TALDO1 | 3.124 | DISEASES 51347 | TAOK3 | 2.277 | DISEASES 55503 | TRPV6 | 1.875 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 165 |
|---|---|
| Disease | glycine encephalopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0002353 | EEG abnormality HP:0100247 | Recurrent singultus HP:0001250 | Seizures HP:0010851 | EEG with burst suppression HP:0002079 | Hypoplasia of the corpus callosum HP:0012705 | Abnormal metabolic brain imaging by MRS HP:0001254 | Lethargy HP:0002154 | Hyperglycinemia HP:0011398 | Central hypotonia HP:0002033 | Poor suck HP:0002123 | Generalized myoclonic seizures HP:0005957 | Breathing dysregulation HP:0005972 | Respiratory acidosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0001298 | Encephalopathy | 3 HP:0001250 | Seizures | 1 HP:0200134 | Epileptic encephalopathy | 1 HP:0001289 | Confusion | 1 |
| Disease ID | 165 |
|---|---|
| Disease | glycine encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011398 | Central hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0002079 | Hypoplasia of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005957 | Breathing dysregulation | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| HP:0002079 | Hypoplasia of the corpus callosum | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0010851 | EEG with burst suppression | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002033 | Poor suck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011398 | Central hypotonia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002154 | Hyperglycinemia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0005972 | Respiratory acidosis | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0100247 | Recurrent singultus | MP:0011380 | enlarged brain ventricles | increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| Disease ID | 165 |
|---|---|
| Disease | glycine encephalopathy |
| Case | (Waiting for update.) |