PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
Disease: MICROPHTHALMIA, ISOLATED 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61744404
rs61744404
Entrez Id: 1144;646960
Gene Symbol: CHRND;PRSS56
CHRND;PRSS56
CUI: C3150757
Disease:
MICROPHTHALMIA, ISOLATED 6 		0.700 GeneticVariation UNIPROT Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 21850159 2011
dbSNP: rs61744404
rs61744404
Entrez Id: 1144;646960
Gene Symbol: CHRND;PRSS56
CHRND;PRSS56
CUI: C3150757
Disease:
MICROPHTHALMIA, ISOLATED 6 		0.700 GeneticVariation UNIPROT Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 21397065 2011
dbSNP: rs61744404
rs61744404
Entrez Id: 1144;646960
Gene Symbol: CHRND;PRSS56
CHRND;PRSS56
CUI: C3150757
Disease:
MICROPHTHALMIA, ISOLATED 6 		0.700 GeneticVariation UNIPROT Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 21532570 2011