Details of Disease

General Information of Disease (ID: DISR86FN)

Disease Name Cataract 13 with adult I phenotype
Synonyms cataract 13 with ADULT I phenotype; cataract 13 with adult I phenotype; CTRCT13
Definition A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.|Not in the OMIM series.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISR86FN: Cataract 13 with adult I phenotype
Disease Identifiers
MONDO ID
MONDO_0007289
UMLS CUI
C3805373
OMIM ID
116700
MedGen ID
811703

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCNT2 OTRUIMC4 Definitive Autosomal recessive [1]
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References

1 Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. Blood. 2001 Dec 15;98(13):3840-5. doi: 10.1182/blood.v98.13.3840.