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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   bradyopsia
  

Disease ID 970
Disease bradyopsia
Definition
Difficulty in seeing moving objects. [pmid:25770143]
Synonym
bradyopsia (disorder)
difficulty seeing moving objects
prolonged electroretinal response suppression
Orphanet
OMIM
DOID
UMLS
C1842073
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
8787  |  RGS9  |  UNIPROT
388531  |  RGS9BP  |  UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:7)
24  |  ABCA4  |  2.588  |  DISEASES
57126  |  CD177  |  2.974  |  DISEASES
92211  |  CDHR1  |  4.384  |  DISEASES
23418  |  CRB1  |  3.1  |  DISEASES
169522  |  KCNV2  |  5.155  |  DISEASES
8842  |  PROM1  |  1.66  |  DISEASES
388531  |  RGS9BP  |  7.536  |  DISEASES
Locus
Symbol | Locus(Total Locus:2)
RGS9  |  17q24.1
RGS9BP  |  19q13.11
Disease ID 970
Disease bradyopsia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:3)
HP:0000505  |  Visual impairment
HP:0030511  |  Bradyopsia
HP:0000613  |  Photophobia
Text Mined Phenotype(Waiting for update.)
Disease ID 970
Disease bradyopsia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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:2)
HP ID HP Name MP ID MP Name Annotation
HP:0000613PhotophobiaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000505Visual impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
Disease ID 970
Disease bradyopsia
Case(Waiting for update.)