Variant: rs760048191 

    present in Gene: MSMO1
    present in Chromosome: 4
    Position on Chromosome: 165341795
    Alleles of this Variant: A/C;G

rs760048191 in MSMO1 gene and MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

rs760048191 in MSMO1 gene and Multiple congenital anomalies PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

rs760048191 in MSMO1 gene and Muscle hypotonia PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.