Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8029
Gene Symbol: CUBN
CUBN 		0.480 Biomarker disease HPO
Entrez Id: 1719
Gene Symbol: DHFR
DHFR 		0.410 Biomarker disease HPO
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2 		0.170 Biomarker disease HPO
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF 		0.130 Biomarker disease HPO
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.120 Biomarker disease HPO
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.120 Biomarker disease HPO
Entrez Id: 81693
Gene Symbol: AMN
AMN 		0.120 CausalMutation disease CLINVAR
Entrez Id: 81693
Gene Symbol: AMN
AMN 		0.120 Biomarker disease HPO
Entrez Id: 4548
Gene Symbol: MTR
MTR 		0.110 Biomarker disease HPO
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		0.110 Biomarker disease HPO
Entrez Id: 10841
Gene Symbol: FTCD
FTCD 		0.100 Biomarker disease HPO
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		0.100 Biomarker disease HPO
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC 		0.100 Biomarker disease HPO
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1 		0.100 Biomarker disease HPO
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		0.100 Biomarker disease HPO
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1 		0.100 Biomarker disease HPO
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1 		0.100 Biomarker disease HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker disease HPO
Entrez Id: 8029
Gene Symbol: CUBN
CUBN 		0.480 GeneticVariation disease BEFREE Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. 10080186 1999
Entrez Id: 8029
Gene Symbol: CUBN
CUBN 		0.480 GeneticVariation disease BEFREE Megaloblastic anaemia 1 (MGA1) is a rare autosomal recessive condition characterized by selective intestinal vitamin B12 malabsorption and proteinuria. 17285242 2007
Entrez Id: 8029
Gene Symbol: CUBN
CUBN 		0.480 Biomarker disease BEFREE Megaloblastic anemia type 1 (MGA1) is characterized by megaloblastic anemia due to congenital selective vitamin B(12) malabsorption and proteinuria. 21150213 2011
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.120 Biomarker disease BEFREE Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of folate/cobalamin metabolism leading to hyperhomocysteinemia, hypo- methioninemia and megaloblastic anemia. 10484769 1999
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.120 GeneticVariation disease BEFREE Methionine synthase reductase (MTRR) is the locus of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. 17554763 2007
Entrez Id: 8029
Gene Symbol: CUBN
CUBN 		0.480 GeneticVariation disease BEFREE CUBN mutations have been implicated as a hereditary cause of megaloblastic anaemia and variable proteinuria. 31438875 2019
Entrez Id: 81693
Gene Symbol: AMN
AMN 		0.120 GeneticVariation disease LHGDN Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. 12590260 2003