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PedAM

Pediatric Disease Annotations & Medicines



   coloboma, ocular
  

Disease ID 1081
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
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
Disease coloboma, ocular
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:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121907925NA5080PAX6umls:C0009363CLINVARNA0.480814326NAPAX61131793795AG
rs387906945NA9573GDF3umls:C0009363CLINVARNA0.120271442NAGDF3127690059AG
rs587777249NA10413YAP1umls:C0009363CLINVARNA0.120542884NAYAP111102114192CT
rs786204849NA9158FIBPumls:C0009363CLINVARNA0.12NAFIBP1165885181GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:2)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0009363phenytoinD01067257-41-0colobomaMESH:D003103marker/mechanism9212184
C0009363thalidomideD01379250-35-1colobomaMESH:D003103marker/mechanism4631040
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)