Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.780 Biomarker disease CTD_human
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE We found that these mice developed an enamel phenotype that resembles human AI associated with FAM20A mutations, but did not have apparent dentin defects. 31667691 2019
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. 29439260 2018
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 Biomarker disease BEFREE Loss of this insertion due to abnormal mRNA splicing interferes with the structure and function of Fam20A, resulting in AI. 28432788 2017
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. 27281036 2016
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. 25827751 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups. 25636655 2015
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth, aggressive periodontitis, and nephrocalcinosis/nephrolithiasis. 24259279 2014
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 GeneticVariation disease BEFREE This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. 23434854 2012
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.180 Biomarker disease HPO
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.140 GeneticVariation disease BEFREE Recessive FAM20A mutations can cause nephrocalcinosis in addition to the oral phenotype. 29439260 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.140 GeneticVariation disease BEFREE Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. 28298625 2017
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.140 GeneticVariation disease BEFREE Greater promotory activity of urine on calcium oxalate crystal growth compared to controls may help to explain the pathogenesis, and suggest that FAM20A mutations can contribute to nephrocalcinosis/nephrolithiasis. 24259279 2014
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.140 GeneticVariation disease BEFREE We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. 23434854 2012
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.140 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.110 GeneticVariation group BEFREE AI patients with similar clinical phenotypes and FAM20A mutations should be examined for nephropathy even if they lack pertinent symptoms. 29439260 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.110 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0014394
Disease: Enuresis
Enuresis 		0.100 Biomarker phenotype HPO