PedAM
Pediatric Disease Annotations & Medicines
| hypertrichosis | ||||
| Disease ID | 140 |
|---|---|
| Disease | hypertrichosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs63749090 | 15126570 | 9790 | BMS1 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs63749090 | 15126570 | 31 | ACACA | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs63749090 | 15126570 | 1589 | CYP21A2 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs63749090 | 15126570 | 94081 | SFXN1 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs9378251 | 15126570 | 9790 | BMS1 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | CYP21A2 | 6 | 32038514 | C | T |
| rs9378251 | 15126570 | 94081 | SFXN1 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | CYP21A2 | 6 | 32038514 | C | T |
| rs9378251 | 15126570 | 1589 | CYP21A2 | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | CYP21A2 | 6 | 32038514 | C | T |
| rs9378251 | 15126570 | 31 | ACACA | umls:C0020555 | BeFree | By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. | 0.000271442 | 2004 | CYP21A2 | 6 | 32038514 | 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007513 | Generalized hypopigmentation | MP:0005408 | hypopigmentation;HP:0000684 | Delayed eruption of teeth |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007513 | Generalized hypopigmentation | MP:0003257 | abnormal abdominal wall morphology;HP:0000684 | Delayed eruption of teeth |
Chemical(Total Drugs:5) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0020555 | chlorthalidone | D002752 | 77-36-1 | hypertrichosis | MESH:D006983 | marker/mechanism | 3836295 | ||
| C0020555 | cyclosporine | D016572 | 59865-13-3 | hypertrichosis | MESH:D006983 | marker/mechanism | 10665942 | ||
| C0020555 | methotrexate | D008727 | 1959/5/2 | hypertrichosis | MESH:D006983 | marker/mechanism | 16470853 | ||
| C0020555 | minoxidil | D008914 | 38304-91-5 | hypertrichosis | MESH:D006983 | marker/mechanism | 21786 | ||
| C0020555 | phenytoin | D010672 | 57-41-0 | hypertrichosis | MESH:D006983 | marker/mechanism | 1147459 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |