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Entry Name Description Category Pathway Gene
H00087 Other humoral immunodeficiencies ... a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00591 Facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... Nervous system disease; Musculoskeletal disease (FSHD1) FRG1 [HSA:2483] [KO:K13122]
(FSHD2) SMCHD1 [HSA:23347] [KO:K23113]
(FSHD3) LRIF1 [HSA:55791] [KO:K23220]
(FSHD4) DNMT3B [HSA:1789] [KO:K17399]
H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome ... instability is the cytogenetic hallmark of ICF syndrome. Mutations in the DNA methyltransferase 3B (DNMT3B) gene account for about 50% of ICF cases, while about 30% of cases have mutations in the ZBTB24 ... Immune system disease (ICF1) DNMT3B [HSA:1789] [KO:K17399]
(ICF2) ZBTB24 [HSA:9841] [KO:K10503]
(ICF3) CDCA7 [HSA:83879] [KO:K23408]
(ICF4) HELLS [HSA:3070] [KO:K19001]
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