PedAM
Pediatric Disease Annotations & Medicines
| peters anomaly | ||||
| Disease ID | 237 |
|---|---|
| Disease | peters anomaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000639 | Nystagmus HP:0007957 | Corneal clouding HP:0000486 | Squint eyes HP:0000659 | Peters anomaly HP:0001087 | Childhood glaucoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0007957 | Corneal clouding | 2 HP:0000526 | Absent iris | 2 HP:0010442 | Polydactyly | 1 HP:0007720 | Flat cornea | 1 HP:0030854 | Scleral staphyloma | 1 |
| Disease ID | 237 |
|---|---|
| Disease | peters anomaly |
| 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893951 | NA | 2296 | FOXC1 | umls:C0344559 | CLINVAR | NA | 0.360542884 | NA | FOXC1 | 6 | 1610780 | T | A,C |
| rs104893951 | 12614756 | 2296 | FOXC1 | umls:C0344559 | BeFree | A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. | 0.360542884 | 2003 | FOXC1 | 6 | 1610780 | T | A,C |
| rs121907913 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31802769 | G | C |
| rs121907921 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31801893 | A | T |
| rs121908111 | 9302254 | 5075 | PAX1 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.000271442 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121908111 | 9302254 | 5080 | PAX6 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.562714419 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121908111 | 9302254 | 5077 | PAX3 | umls:C0344559 | BeFree | To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G). | 0.000271442 | 1997 | PAX3;CCDC140 | 2 | 222297156 | C | G |
| rs121909339 | NA | 2296 | FOXC1 | umls:C0344559 | CLINVAR | NA | 0.360542884 | NA | FOXC1 | 6 | 1610803 | C | T |
| rs587778873 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1 | 2 | 38071144 | - | GGTGGCATGA |
| rs587778874 | NA | 5080 | PAX6 | umls:C0344559 | CLINVAR | NA | 0.562714419 | NA | PAX6 | 11 | 31801766 | C | A |
| rs72549387 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1;LOC105374860 | 2 | 38075218 | C | T,G |
| rs72549389 | NA | 1545 | CYP1B1 | umls:C0344559 | CLINVAR | NA | 0.361085767 | NA | CYP1B1;LOC105374860 | 2 | 38075387 | A | G |
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:0007759 | Opacification of the corneal stroma | MP:0000731 | increased collagen deposition in the muscles;HP:0000689 | Dental malocclusion |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000007 | Autosomal recessive inheritance | MP:0010659 | abdominal aorta aneurysm;HP:0007759 | Opacification of the corneal stroma |
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.) | |