PedAM
Pediatric Disease Annotations & Medicines
| epidermodysplasia verruciformis | ||||
| Disease ID | 21 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0001939 | Laboratory abnormality HP:0200039 | Pustule HP:0001053 | Hypopigmented skin patches HP:0007565 | Multiple cafe-au-lait spots HP:0002671 | Basalioma HP:0200034 | Papule HP:0100585 | Telangiectasia of the skin HP:0001051 | Seborrheic dermatitis HP:0200043 | Verrucae HP:0002715 | Abnormality of the immune system HP:0002860 | Squamous cell carcinoma HP:0200035 | Skin plaque HP:0001581 | Recurrent skin infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) |
| Disease ID | 21 |
|---|---|
| Disease | epidermodysplasia verruciformis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1705714 | warts C1608408 | malignant transformation C1519346 | skin carcinogenesis C0699893 | nonmelanoma skin cancer C0206708 | cervical intraepithelial neoplasia C0037284 | skin lesions C0037284 | skin lesion C0035412 | rhabdomyosarcoma C0031306 | phagocytic dysfunction C0009447 | variable immunodeficiency syndrome C0007137 | squamous cell carcinoma C0007137 | squamous carcinomas C0007114 | skin cancers C0007114 | skin cancer C0006079 | bowen disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C0007114 | skin cancer | 2 C0699893 | nonmelanoma skin cancer | 1 C0007137 | squamous cell carcinoma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908327 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78125876 | G | A |
| rs121908328 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78119382 | C | T,A |
| rs121908329 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78124671 | G | T |
| rs121908330 | NA | 147138 | TMC8 | umls:C0014522 | CLINVAR | NA | 0.369520329 | NA | TMC8 | 17 | 78134966 | G | A,T |
| rs3737240 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs3737240 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs3737240 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | ECM1;LOC105371435 | 1 | 150510879 | C | T |
| rs386503939 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | NA | NA | NA | NA | NA |
| rs386503939 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | NA | NA | NA | NA | NA |
| rs386503939 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | NA | NA | NA | NA | NA |
| rs7208422 | 25495765 | 147138 | TMC8 | umls:C0014522 | BeFree | Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. | 0.369520329 | 2014 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 11322 | TMC6 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.371701795 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 147138 | TMC8 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.369520329 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs7208422 | 23534907 | 1893 | ECM1 | umls:C0014522 | BeFree | Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. | 0.000271442 | 2015 | TMC8 | 17 | 78134494 | A | C,T |
| rs769471844 | NA | 11322 | TMC6 | umls:C0014522 | CLINVAR | NA | 0.371701795 | NA | TMC6 | 17 | 78124181 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot;HP:0002671 | Basal cell carcinoma |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001051 | Seborrheic dermatitis | MP:0010465 | aberrant origin of the right subclavian artery;HP:0001053 | Hypopigmented skin patches |
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.) | |