DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 10234504 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Familial Mediterranean fever (FMF) is an autosomal recessive disease char 1.35 KB 2015-11-15 7 14
-
PubMed 10234517 Molecular genetic analysis of human folate receptors in neural tube defects. Neural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, 978 Bytes 2015-11-15 5 5
-
PubMed 10235273 Putative hemochromatosis gene mutations and alcoholic liver disease with iron overload in Japan. It is well known that alcoholic liver disease is associated with iron overload. To study the role of he 1.1 KB 2015-11-15 4 5
-
PubMed 10319416 Absence of R1066X mutation in six Japanese patients with Dubin-Johnson syndrome. The Dubin-Johnson syndrome (DJS) is a rare autosomal recessive liver disease characterized by chronic conjugated hyperb 1.25 KB 2015-11-15 5 3
-
PubMed 10322122 The amyloidogenicity of gelsolin is controlled by proteolysis and pH. BACKGROUND: Normally, gelsolin functions in plasma as part of the actin-scavenging system to assemble and disassemble actin filame 1.69 KB 2015-11-15 5 5
-
PubMed 10323784 Effects of a frequent apolipoprotein E isoform, ApoE4Freiburg (Leu28-->Pro), on lipoproteins and the prevalence of coronary artery disease in whites. Different isoforms of apoE modulate the concentrat 1.53 KB 2015-11-15 5 7
-
PubMed 10329600 Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders. Craniosynostoses are a heterogeneous group of disorders characte 1.92 KB 2015-11-15 5 8
-
PubMed 10332040 Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), n 1.35 KB 2015-11-15 3 11
-
PubMed 10332042 Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopa 1.78 KB 2015-11-15 5 3
-
PubMed 10332046 The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. The human XPB DNA helicase is a subunit of the DNA repair/ 1.74 KB 2015-11-15 9 21
-