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Entry Name Description Category Pathway Gene
H01277 Vitamin B12 deficiency anaemia ... problems, and dementia. If untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. Both proteins are involved in intestinal absorption and renal ... Hematologic disease (IGS1) CUBN [HSA:8029] [KO:K14616]
(IGS2) AMN [HSA:81693] [KO:K18259]
(IFD) CBLIF [HSA:2694] [KO:K14615]
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