PedAM
Pediatric Disease Annotations & Medicines
| cryptorchidism | ||||
| Disease ID | 651 |
|---|---|
| Disease | cryptorchidism |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894697 | NA | 3640 | INSL3 | umls:C0010417 | CLINVAR | NA | 0.458621207 | NA | INSL3 | 19 | 17816972 | G | A |
| rs104894697 | 11095425 | 3640 | INSL3 | umls:C0010417 | UNIPROT | Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. | 0.458621207 | 2000 | INSL3 | 19 | 17816972 | G | A |
| rs104894698 | NA | 3640 | INSL3 | umls:C0010417 | CLINVAR | NA | 0.458621207 | NA | INSL3 | 19 | 17816946 | G | A |
| rs1110061 | 16500365 | 2516 | NR5A1 | umls:C0010417 | BeFree | Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. | 0.006720033 | 2006 | NR5A1 | 9 | 124500523 | C | G |
| rs121912555 | NA | 3640 | INSL3 | umls:C0010417 | CLINVAR | NA | 0.458621207 | NA | INSL3 | 19 | 17816920 | G | C |
| rs121912556 | NA | 3640 | INSL3 | umls:C0010417 | CLINVAR | NA | 0.458621207 | NA | INSL3 | 19 | 17816945 | C | T |
| rs121918303 | 18772597 | 122042 | RXFP2 | umls:C0010417 | BeFree | No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. | 0.335525725 | 2008 | RXFP2 | 13 | 31777398 | A | C,G |
| rs121918303 | 15579790 | 3640 | INSL3 | umls:C0010417 | BeFree | Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism. | 0.458621207 | 2004 | RXFP2 | 13 | 31777398 | A | C,G |
| rs121918303 | 18073304 | 122042 | RXFP2 | umls:C0010417 | BeFree | The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. | 0.335525725 | 2008 | RXFP2 | 13 | 31777398 | A | C,G |
| rs121918303 | 15579790 | 122042 | RXFP2 | umls:C0010417 | BeFree | Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism. | 0.335525725 | 2004 | RXFP2 | 13 | 31777398 | A | C,G |
| rs121918303 | 20636340 | 122042 | RXFP2 | umls:C0010417 | BeFree | Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations. | 0.335525725 | 2011 | RXFP2 | 13 | 31777398 | A | C,G |
| rs144422259 | 24705274 | 1588 | CYP19A1 | umls:C0010417 | BeFree | R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. | 0.000542884 | 2014 | CYP19A1;PIRC66 | 15 | 51222399 | C | T |
| rs28939382 | 12217959 | 122042 | RXFP2 | umls:C0010417 | UNIPROT | Mutations of the GREAT gene cause cryptorchidism. | 0.335525725 | 2002 | NA | NA | NA | NA | NA |
| rs398122886 | NA | 3640 | INSL3 | umls:C0010417 | CLINVAR | NA | 0.458621207 | NA | INSL3 | 19 | 17817033 | G | A |
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:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0010417 | diethylstilbestrol | D004054 | 56-53-1 | cryptorchidism | MESH:D003456 | marker/mechanism | 12952375 | ||
| C0010417 | tretinoin | D014212 | 302-79-4 | cryptorchidism | MESH:D003456 | marker/mechanism | 9535508 | ||
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.) | |