|
ID |
Name |
Source |
pValue |
FDR B&H |
FDR B&Y |
Bonferroni |
Genes from Input
|
Genes in Annotation
|
1
|
20301409
|
Isolated Methylmalonic Acidemia
|
Pubmed
|
3.948E-15
|
2.519E-12
|
1.772E-11
|
2.519E-12
|
4
|
5
|
2
|
28497574
|
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
|
Pubmed
|
6.031E-12
|
7.696E-10
|
5.415E-9
|
3.848E-9
|
3
|
3
|
3
|
17597648
|
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
|
Pubmed
|
6.031E-12
|
7.696E-10
|
5.415E-9
|
3.848E-9
|
3
|
3
|
4
|
17957493
|
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
|
Pubmed
|
6.031E-12
|
7.696E-10
|
5.415E-9
|
3.848E-9
|
3
|
3
|
5
|
23022071
|
The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
|
Pubmed
|
6.031E-12
|
7.696E-10
|
5.415E-9
|
3.848E-9
|
3
|
3
|
6
|
20301503
|
Disorders of Intracellular Cobalamin Metabolism
|
Pubmed
|
7.233E-10
|
7.691E-8
|
5.412E-7
|
4.615E-7
|
3
|
10
|
7
|
20301334
|
Dystonia Overview
|
Pubmed
|
1.179E-9
|
1.075E-7
|
7.561E-7
|
7.522E-7
|
4
|
79
|
8
|
15347655
|
Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
9
|
16641088
|
Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
10
|
23415655
|
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
11
|
21604717
|
Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
12
|
23270877
|
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
13
|
17410422
|
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
14
|
21138732
|
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
15
|
15781192
|
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
16
|
21536470
|
Expression of Mmachc and Mmadhc during mouse organogenesis.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
17
|
22832074
|
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
18
|
26483544
|
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
19
|
25982642
|
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
20
|
20876572
|
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
21
|
21071249
|
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin Bâ??â?? metabolism.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
22
|
28943303
|
Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.
|
Pubmed
|
3.839E-8
|
1.113E-6
|
7.834E-6
|
2.449E-5
|
2
|
2
|
23
|
20466634
|
[Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women].
|
Pubmed
|
3.838E-7
|
1.065E-5
|
7.491E-5
|
2.449E-4
|
2
|
5
|
24
|
20852008
|
Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.
|
Pubmed
|
2.531E-6
|
6.729E-5
|
4.735E-4
|
1.615E-3
|
2
|
12
|
25
|
23824729
|
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
|
Pubmed
|
7.281E-6
|
1.858E-4
|
1.307E-3
|
4.645E-3
|
2
|
20
|
26
|
24261678
|
Methionine synthase reductase A66G polymorphism and leukemia risk: evidence from published studies.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
27
|
18515090
|
His595Tyr polymorphism in the methionine synthase reductase (MTRR) gene is associated with pancreatic cancer risk.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
28
|
18245139
|
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
29
|
9501215
|
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
30
|
26972339
|
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
31
|
17431913
|
Late-onset cobalamin-C disorder: a challenging diagnosis.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
32
|
27383490
|
Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
33
|
23898205
|
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
34
|
17087642
|
MTRR 66A>G polymorphism in relation to congenital heart defects.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
35
|
14622275
|
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
36
|
21472912
|
ELDOR spectroscopy reveals that energy landscapes in human methionine synthase reductase are extensively remodelled following ligand and partner protein binding.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
37
|
10874303
|
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
38
|
26563984
|
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
39
|
18385497
|
Gene identification for the cblD defect of vitamin B12 metabolism.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
40
|
20631720
|
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
41
|
2907507
|
Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
42
|
18251506
|
Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
43
|
19447654
|
Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
44
|
25707023
|
Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
45
|
1980486
|
Structure of the human methylmalonyl-CoA mutase (MUT) locus.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
46
|
27060300
|
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
47
|
22179537
|
Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
48
|
22792386
|
Mouse models for methylmalonic aciduria.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
49
|
6124211
|
Purification and properties of methylmalonyl coenzyme A mutase from human liver.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|
50
|
20556797
|
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
|
Pubmed
|
2.095E-4
|
5.663E-4
|
3.984E-3
|
1.336E-1
|
1
|
1
|