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Entity 1
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Relationship
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Entity 2
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Article
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Frequency
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Score
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| deficiency | cause | diseases | [Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)] | 13 | 41.7013 |
| mice | have | deficiency | Null allele at Bcd-1 locus in BALB/cByJ mice is due to a deletion in the short-chain acyl-CoA dehydrogenase gene and results in missplicing of mRNA. | 9 | 37.4103 |
| diseases | associated-with | deficiency | Alpha-1-antitrypsin deficiency: a review; 1963-1975. | 5 | 34.7012 |
| deficiency | associated-with | insulin resistance | Transgenic rescue of defective Cd36 ameliorates insulin resistance in spontaneously hypertensive rats. | 5 | 34.7012 |
| deficiency | associated-with | hemolytic anemia | Phosphoglycerate kinase abnormalities: functional, structural and genomic aspects. | 5 | 34.7012 |
| deficiency | cause | hyperphenylalaninemia | Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia. | 2 | 34.5664 |
| emphysema | associated-with | deficiency | Tracheobronchial clearance in patients with emphysema associated with alpha1-antitrypsin deficiency. | 1 | 34.0968 |
| hemolytic anemia | associated-with | deficiency | The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin. | 1 | 34.0075 |
| deficiency | cause | muscular dystrophy | Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). | 1 | 33.9474 |
| abnormalities | including | deficiency | Metabolic defects in severe combined immunodeficiency in man and animals. | 5 | 33.4205 |
| deficiency | associated-with | angioedema | Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythematosus. | 1 | 33.2889 |
| deficiency | cause | leukodystrophy | Canavan disease: mutations among Jewish and non-jewish patients. | 4 | 32.7013 |
| deficiency | cause | Gaucher disease | Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. | 4 | 32.7013 |
| deficiency | cause | syndromes | [Reciprocal syndromes caused by deficiency duplication resulting from maternal t(10;18)(p12;q22) translocation] | 4 | 32.7013 |
| deficiency | causes | severe combined immunodeficiency | Adenosine deaminase deficiency in adults. | 4 | 32.7013 |
| syndromes | associated-with | deficiency | Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy. | 3 | 32.7012 |
| porphyria | related-to | deficiency | Diagnosis and treatment of the hepatic porphyrias. | 1 | 32.2318 |
| deficiency | caused | anemia | [Apropos of 3 new types of hemolytic anemia in children. Infantile pyknocytosis. Familial hemolytic anemia with erythrocytic inclusions and pigmenturia. Anemia caused by a deficiency of pyruvate kinase.] | 3 | 31.7013 |
| deficiency | cause | myopathy | Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease). | 3 | 31.7013 |
| deficiency | cause | inborn errors of metabolism | [Screening methods for the diagnosis of lysosomal storage disease] | 3 | 31.7013 |
| deficiency | cause | Fabry disease | Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. | 3 | 31.7013 |
| deficiency | cause | glycogen storage disease | A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. | 3 | 31.7013 |
| muscular dystrophy | associated-with | deficiency | Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study. | 2 | 31.7012 |
| deficiency | associated-with | syndrome | [A case report of adrenocorticotrophic hormone (ACTH) deficiency associated with the syndrome of inappropriate secretion of antidiuretic hormone (author's transl)] | 2 | 31.7012 |
| deficiency | associated-with | systemic lupus erythematosus | Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, Sjögren's syndrome and hyperthyroidism. | 2 | 31.7012 |
| deficiency | associated-with | lupus | Non-coordinated biosynthesis of early complement components in a deficiency of complement proteins C1r and C1s. | 2 | 31.7012 |
| deficiency | associated-with | abnormalities | Subcellular localization of the large subunit of Mo1 (Mo1 alpha; formerly gp 110), a surface glycoprotein associated with neutrophil adhesion. | 2 | 31.7012 |
| deficiency | associated-with | depression | [The role of folates in the diverse biochemical processes that control mental function] | 2 | 31.7012 |
| deficiency | associated-with | protease | Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis. | 2 | 31.7012 |
| deficiency | cause | thrombosis | Mesenteric venous thrombosis caused by deficiency of physiologic anti-coagulants: report of a case. | 3 | 31.6026 |
| deficiency | cause | homocystinuria | Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells. | 3 | 31.5065 |
| ataxia | associated-with | deficiency | Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli. | 1 | 31.1637 |
| deficiency | disorder | fatty acid | Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome. | 7 | 30.9512 |
| encephalopathy | associated-with | deficiency | Local cerebral glucose utilization in two models of B12 deficiency. | 1 | 30.8998 |
| deficiency | cause | lysosomal storage diseases | Winchester syndrome. A case report and literature review. | 2 | 30.7013 |
| deficiency | causes | Reye-like syndrome | Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. | 2 | 30.7013 |
| deficiency | cause | hypertension | [Characteristics of the pressor response induced by adrenaline in arterial hypertension caused by deficiency of exogenous calcium] | 2 | 30.7013 |
| deficiency | causing | anaemia | Suspected nutritional deficiency causing anaemia in llamas (Lama glama). | 2 | 30.7013 |
| deficiency | cause | hyperparathyroidism | Seasonal changes in calcium homeostasis affect the incidence of postoperative tetany in patients with Graves' disease. | 2 | 30.7013 |
| deficiency | cause | Scurvy | Vitamin C and the common cold. | 2 | 30.7013 |
| deficiency | cause | lipidosis | [Update on Gaucher's disease] | 2 | 30.7013 |
| deficiency | cause | porphyria | A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. | 2 | 30.7013 |
| deficiency | cause | Niemann-Pick disease | A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. | 2 | 30.7013 |
| hepatitis | associated-with | deficiency | [Familial autoimmune hepatitis and C4 deficiency] | 1 | 30.7012 |
| immunodeficiency | associated-with | deficiency | Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. | 1 | 30.7012 |
| chronic lymphocytic leukemia | associated-with | deficiency | Impaired natural killer activity in patients with chronic lymphocytic leukemia is associated with a deficiency of azurophilic cytoplasmic granules in putative NK cells. | 1 | 30.7012 |
| blindness | associated-with | deficiency | Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients. | 1 | 30.7012 |
| hypertension | associated-with | deficiency | Central and peripheral mechanisms involved in hypertension induced by chronic inhibition of nitric oxide synthase in rats. | 1 | 30.7012 |
| periodontitis | associated-with | deficiency | Neutrophil lysosomal nonoxidative microbicidal proteins in early-onset periodontitis. | 1 | 30.7012 |
| dilated cardiomyopathy | associated-with | deficiency | Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin. | 1 | 30.7012 |
