PedAM
Pediatric Disease Annotations & Medicines
| gonadal dysgenesis | ||||
| Disease ID | 432 |
|---|---|
| Disease | gonadal dysgenesis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2697402 | hypogonadotropic hypogonadism C2219717 | amenorrhea C1420725 | thymoma C1368683 | epithelial tumour C1153706 | adenocarcinoma of the endometrium C0920350 | hashimoto's thyroiditis C0476089 | endometrial carcinoma C0376293 | stigmata C0345335 | multicystic kidney C0334524 | mixed germ cell tumor C0279668 | adenocarcinoma of the vagina C0271606 | primary ovarian failure C0232940 | secondary amenorrhea C0232939 | primary amenorrhea C0221406 | cushing's disease C0206661 | gonadoblastoma C0206650 | fibroadenoma C0020676 | hypothyroidism C0015799 | feminization C0014175 | endometriosis C0014173 | endometrial hyperplasia C0011849 | diabetes mellitus C0003496 | aortic rupture C0001080 | achondroplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0206661 | gonadoblastoma | 4 C0002453 | amenorrhea | 2 C0232939 | primary amenorrhea | 2 C0271606 | primary ovarian failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894118 | 15472171 | 2516 | NR5A1 | umls:C0018051 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005438769 | 2004 | NR5A1 | 9 | 124500196 | C | A |
| rs104894119 | 15472171 | 2516 | NR5A1 | umls:C0018051 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005438769 | 2004 | NR5A1 | 9 | 124500685 | C | T |
| rs104894966 | 8105086 | 6736 | SRY | umls:C0018051 | BeFree | A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. | 0.017130633 | 1993 | SRY | Y | 2787267 | C | T |
| rs104894971 | 9521592 | 6736 | SRY | umls:C0018051 | BeFree | A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. | 0.017130633 | 1998 | SRY | Y | 2787551 | C | T |
| rs104894972 | 10852465 | 6736 | SRY | umls:C0018051 | BeFree | Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. | 0.017130633 | 2000 | SRY | Y | 2787320 | C | T |
| rs121918654 | 15472171 | 2516 | NR5A1 | umls:C0018051 | BeFree | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. | 0.005438769 | 2004 | NA | NA | NA | NA | NA |
| rs121918655 | 20453312 | 2516 | NR5A1 | umls:C0018051 | BeFree | Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. | 0.005438769 | 2010 | NR5A1 | 9 | 124493143 | C | T |
| rs121918655 | 20453312 | 6736 | SRY | umls:C0018051 | BeFree | Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure. | 0.017130633 | 2010 | NR5A1 | 9 | 124493143 | 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:1) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0018051 | progesterone | D011374 | 57-83-0 | gonadal dysgenesis | MESH:D006059 | therapeutic | 2673747 | ||
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.) | |