Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 Biomarker disease BEFREE Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. 27068007 2016
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 Biomarker disease BEFREE We found that ACS significantly preserved verbal memory (WMS-LM, F[1,65] = 4.2003, <i>p</i> = 0.0445) and blood flow at frontal areas of the brain (FWE<sub>cluster level</sub>, <i>p</i> < 0.001). 29896423 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Our previous data showed that neprilysin (NEP), a zinc metalloendopeptidase, which can degrade amyloid-beta peptide (Abeta) whose central nerve system accumulation is the primary cause of Alzheimer's disease (AD), responds to estrogen in the brain. 19127446 2009
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Many sequence variants affecting diversity of adult human height. 18391951 2008
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		0.100 Biomarker phenotype HPO
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		0.100 Biomarker phenotype HPO
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		0.100 Biomarker disease HPO
CUI: C1848654
Disease: Broad ribs
Broad ribs 		0.100 Biomarker phenotype HPO
CUI: C0424693
Disease: Broad skull
Broad skull 		0.100 Biomarker phenotype HPO
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.100 GeneticVariation disease GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 GeneticVariation group BEFREE ADAMTS10 has been characterized as a metalloproteinase involved in fibrillin-rich microfibril biogenesis, and its mutations have been implicated in the connective tissue disorder Weill-Marchesani syndrome. 30287421 2018
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C0242510
Disease: Drug usage
Drug usage 		0.010 Biomarker phenotype BEFREE The sample consisted of 205 subjects assessed for five types of episodic memory, using Wechsler Memory Scale-Revised (WMS-R), who answered a questionnaire about drug use and were assessed for the ACE insertion/deletion polymorphism and APOE polymorphism.We found no influence of the APOE gene. 24696269 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and microspherophakia. 25469541 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterized by short stature, eye defects, hypermuscularity and thickened skin. 30060141 2018