coloboma, ocular |
Disease ID | 1081 |
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Disease | coloboma, ocular |
Synonym | coi coi - coloboma of iris, choroid and retina coloboma coloboma [disease/finding] coloboma eye coloboma of eye coloboma of eye (disorder) coloboma of eye, nos coloboma of iris, choroid and retina coloboma of iris, choroid, and retina coloboma of iris, retina, and choroid coloboma of the eye coloboma, ocular, autosomal dominant coloboma, uveoretinal colobomas colobomata congenital ocular coloboma congenital ocular coloboma (disorder) congenital ocular coloboma, nos ocular coloboma ocular coloboma, nos ocular colobomas uveoretinal coloboma |
Orphanet | |
OMIM | |
DOID | |
UMLS | C2700502 |
MeSH | |
SNOMED-CT | |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:15) MAF | 4094 | GHR ACTB | 60 | CTD_human ABCB6 | 10058 | ORPHANET ACTG1 | 71 | CTD_human LAMB1 | 3912 | CTD_human PAX6 | 5080 | CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT YAP1 | 10413 | CLINVAR SHH | 6469 | CTD_human;ORPHANET;GHR ALDH7A1 | 501 | CTD_human VSX2 | 338917 | GHR FIBP | 9158 | CLINVAR GDF3 | 9573 | CLINVAR;GHR GDF6 | 392255 | CTD_human;GHR OTX2 | 5015 | GHR SALL2 | 6297 | ORPHANET |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1081 |
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Disease | coloboma, ocular |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0007748 | Irido-fundal coloboma |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 1081 |
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Disease | coloboma, ocular |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121907925 | NA | 5080 | PAX6 | umls:C0009363 | CLINVAR | NA | 0.480814326 | NA | PAX6 | 11 | 31793795 | A | G |
rs387906945 | NA | 9573 | GDF3 | umls:C0009363 | CLINVAR | NA | 0.120271442 | NA | GDF3 | 12 | 7690059 | A | G |
rs587777249 | NA | 10413 | YAP1 | umls:C0009363 | CLINVAR | NA | 0.120542884 | NA | YAP1 | 11 | 102114192 | C | T |
rs786204849 | NA | 9158 | FIBP | umls:C0009363 | CLINVAR | NA | 0.12 | NA | FIBP | 11 | 65885181 | G | A |
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:2) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0009363 | phenytoin | D010672 | 57-41-0 | coloboma | MESH:D003103 | marker/mechanism | 9212184 | ||
C0009363 | thalidomide | D013792 | 50-35-1 | coloboma | MESH:D003103 | marker/mechanism | 4631040 |
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.) |