Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.700 GeneticVariation disease UNIPROT NDST1 missense mutations in autosomal recessive intellectual disability. 25125150 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 GeneticVariation group BEFREE Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. 25125150 2014
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE To induce diabetes, age-matched male Ndst1 <sup>f/f</sup> Tie2Cre <sup>-</sup> (wild type) and Ndst1 <sup>f/f</sup> Tie2Cre <sup>+</sup> mice on a C57Bl/6J background were injected intraperitoneally with streptozotocin (STZ) (50 mg/kg) on five consecutive days (N = 10-11/group).Urine and plasma were collected. 29330473 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE To induce diabetes, age-matched male Ndst1 <sup>f/f</sup> Tie2Cre <sup>-</sup> (wild type) and Ndst1 <sup>f/f</sup> Tie2Cre <sup>+</sup> mice on a C57Bl/6J background were injected intraperitoneally with streptozotocin (STZ) (50 mg/kg) on five consecutive days (N = 10-11/group).Urine and plasma were collected. 29330473 2018
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.010 GeneticVariation disease BEFREE Targeted disruption of NDST-1 gene leads to pulmonary hypoplasia and neonatal respiratory distress in mice. 10664446 2000
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.700 Biomarker disease CTD_human
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.700 Biomarker disease GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease CTD_human Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. 16020517 2005
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group BEFREE Ndst1 homozygous null mice have craniofacial abnormalities and die within the first 10 h of life of respiratory failure. 28211985 2017
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.310 Biomarker group CTD_human Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. 16020517 2005
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.300 Biomarker group CTD_human Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. 16020517 2005
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.300 Biomarker disease CTD_human Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function. 16020517 2005
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016