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DisGeNET5_variant_disease
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DisGeNET5_variant_disease
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# proj.
# Ann.
updated_at
PubMed
19917666
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions o
1.84 KB
2019-05-30
51
3
-
PubMed
19451548
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We
1.47 KB
2019-05-30
49
5
-
PubMed
16371368
Effects of a leukemia-associated gain-of-function mutation of SHP-2 phosphatase on interleukin-3 sig
2.24 KB
2019-09-23
49
3
-
PubMed
16046395
Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima
1.52 KB
2015-11-19
43
3
-
PubMed
18470323
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g
2.08 KB
2015-11-24
38
3
-
PubMed
26586530
Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosom
2.04 KB
2019-09-23
38
27
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PubMed
1353340
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all
716 Bytes
2015-11-18
36
3
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PubMed
24373920
Mutant p53 gain of function can be at the root of dedifferentiation of human osteosarcoma MG63 cells
2.11 KB
2019-09-23
36
3
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PubMed
17059986
A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h
1.74 KB
2015-11-23
36
3
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PubMed
25157153
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with incr
1.61 KB
2019-09-23
35
27
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