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: 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: 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 CausalMutation disease CLINVAR
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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker group 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: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
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: 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: 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
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: 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: 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: 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: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.200 Biomarker disease MGD Defective heparan sulfate biosynthesis and neonatal lethality in mice lacking N-deacetylase/N-sulfotransferase-1. 10852901 2000
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease 		0.200 Biomarker disease MGD Targeted disruption of NDST-1 gene leads to pulmonary hypoplasia and neonatal respiratory distress in mice. 10664446 2000
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.200 Biomarker disease MGD
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.200 Biomarker phenotype MGD
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE No humans with homozygous null mutations are known. ndst1b (orthologous to NDST1) morpholino knockdown in zebrafish (Danio rerio) causes delayed development, craniofacial cartilage abnormalities, shortened body and pectoral fin length. 28211985 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO