PedAM
Pediatric Disease Annotations & Medicines
| maturity-onset diabetes of the young | ||||
| Disease ID | 460 |
|---|---|
| Disease | maturity-onset diabetes of the young |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) |
| Disease ID | 460 |
|---|---|
| Disease | maturity-onset diabetes of the young |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:11) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894008 | 22611063 | 2645 | GCK | umls:C0342276 | BeFree | We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N]. | 0.154201676 | 2012 | GCK;LOC105375258 | 7 | 44147732 | C | T |
| rs104894011 | 23295287 | 2645 | GCK | umls:C0342276 | BeFree | We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G). | 0.154201676 | 2012 | GCK;LOC105375258 | 7 | 44147720 | C | A |
| rs1169288 | 15031772 | 6927 | HNF1A | umls:C0342276 | BeFree | A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. | 0.02904428 | 2004 | HNF1A | 12 | 120978847 | A | C |
| rs142827509 | 22065581 | 23178 | PASK | umls:C0342276 | BeFree | We identified two rare nonsynonymous mutations in the PASK gene (p.L1051V and p.G1117E), each of which was found in a single MODY family. | 0.000271442 | 2011 | PASK;LOC105373972 | 2 | 241112423 | C | T |
| rs146720543 | 22065581 | 23178 | PASK | umls:C0342276 | BeFree | We identified two rare nonsynonymous mutations in the PASK gene (p.L1051V and p.G1117E), each of which was found in a single MODY family. | 0.000271442 | 2011 | PASK | 2 | 241115335 | A | C |
| rs147065275 | 22611063 | 2645 | GCK | umls:C0342276 | BeFree | We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N]. | 0.154201676 | 2012 | GCK;LOC105375258 | 7 | 44149790 | C | T |
| rs193922317 | 10694920 | 2645 | GCK | umls:C0342276 | BeFree | Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online. | 0.154201676 | 1998 | GCK;LOC105375258 | 7 | 44149778 | C | T |
| rs193922600 | 15031772 | 6927 | HNF1A | umls:C0342276 | BeFree | A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. | 0.02904428 | 2004 | HNF1A | 12 | 120993663 | C | T |
| rs2233580 | 22521316 | 5078 | PAX4 | umls:C0342276 | BeFree | Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabetes. | 0.001357209 | 2012 | PAX4 | 7 | 127613496 | C | T |
| rs367969710 | 22611063 | 2645 | GCK | umls:C0342276 | BeFree | We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N]. | 0.154201676 | 2012 | MAP4K2 | 11 | 64800811 | C | T |
| rs373418736 | 22611063 | 2645 | GCK | umls:C0342276 | BeFree | We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GCK-MODY, in whom two potential pathogenic mutations were identified: [R43H/G68D], [E248 K/I225M], or [G261R/D217N]. | 0.154201676 | 2012 | GCK | 7 | 44153306 | 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:0) | |
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| (Waiting for update.) | |
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.) | |