Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 GeneticVariation disease UNIPROT Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 GeneticVariation disease CLINVAR
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 GeneticVariation disease UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.120 GeneticVariation disease BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.120 GeneticVariation disease CLINVAR
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.120 GeneticVariation disease BEFREE Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.110 GeneticVariation disease BEFREE Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. 28331220 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
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 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.100 GeneticVariation disease CLINVAR
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.020 GeneticVariation disease BEFREE EST database analysis has demonstrated additional gene family members, EXT-like genes (EXTL1, EXTL2, and EXTL3), not associated with a HME locus. 10878610 2000
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation group BEFREE Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.020 GeneticVariation group BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE These data identify <i>EXTL3</i> mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. 28148688 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE We screened patients with stable coronary artery disease for cytochrome P450 (CYP) 2C19 genotypes and enrolled 103 patients who lacked CYP2C19*2 or *3 loss-of-function allele to minimize the effect of this gene on high RPR. 23922147 2013
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation disease BEFREE EXTL3/EXTR1 alterations in colorectal cancer cell lines. 10536173 1999
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 Biomarker disease CTD_human