PedAM
Pediatric Disease Annotations & Medicines
| char syndrome | ||||
| Disease ID | 685 |
|---|---|
| Disease | char syndrome |
| Synonym | patent ductus arteriosus with facial dysmorphism and abnormal fifth digits patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1868570 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 59 | ACTA2 | DISEASES 652 | BMP4 | DISEASES 2033 | EP300 | DISEASES 2121 | EVC | DISEASES 1360 | CPB1 | DISEASES 1281 | COL3A1 | DISEASES 6910 | TBX5 | DISEASES 163 | AP2B1 | DISEASES 2200 | FBN1 | DISEASES 1482 | NKX2-5 | DISEASES 7048 | TGFBR2 | DISEASES 10370 | CITED2 | DISEASES 7020 | TFAP2A | DISEASES 7021 | TFAP2B | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TFAP2B | 6p12.3 |
| Disease ID | 685 |
|---|---|
| Disease | char syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0001643 | Persistent ductus arteriosus HP:0008498 | No permanent dentition HP:0000369 | Low-set ears HP:0001256 | Mild mental retardation HP:0004218 | Symphalangism of the 5th finger HP:0000207 | Triangular mouth HP:0000411 | Prominent ears HP:0001263 | Global developmental delay HP:0001629 | Ventricular septal defect HP:0006159 | Mesoaxial hand polydactyly HP:0000316 | Increased distance between eye sockets HP:0000337 | Increased bitemporal dimension HP:0000545 | Myopia HP:0004220 | Short middle phalanx of the 5th finger HP:0000486 | Strabismus HP:0000272 | Malar flattening HP:0004209 | Clinodactyly of the 5th finger HP:0012471 | Thick vermilion border HP:0000508 | Ptosis HP:0000365 | Hearing impairment HP:0010112 | Mesoaxial foot polydactyly HP:0000574 | Thick eyebrow HP:0001770 | Toe syndactyly HP:0000316 | Hypertelorism HP:0000269 | Prominent occiput HP:0000455 | Increased breadth of tip of nose HP:0005280 | Depressed nasal bridge HP:0006335 | Persistence of primary teeth HP:0001161 | Hand polydactyly HP:0002558 | Supernumerary nipple HP:0000508 | Drooping upper eyelid HP:0009244 | Distal/middle symphalangism of 5th finger HP:0000322 | Short philtrum HP:0004209 | Clinodactyly of fifth digit HP:0001643 | Patent ductus arteriosus HP:0000457 | Depressed nasal ridge HP:0000494 | Downslanted palpebral fissures HP:0002360 | Sleep disturbance HP:0002553 | Highly arched eyebrow HP:0000486 | Squint eyes HP:0000232 | Everted lower lip vermilion |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 685 |
|---|---|
| Disease | char syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs80338910 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50823543 | C | G |
| rs80338911 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50828684 | G | A |
| rs80338912 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50836165 | C | A,T |
| rs80338914 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50837977 | C | A |
| rs80338915 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50838007 | G | A |
| rs80338916 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50837974 | G | C |
| rs80338917 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50838051 | 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:0004209 | Clinodactyly of the 5th finger | MP:0003694 | failure of blastocyst to hatch from the zona pellucida;HP:0000179 | Thick lower lip vermilion |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0010465 | aberrant origin of the right subclavian artery;HP:0000365 | Hearing impairment |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |