OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
Biomarker
disease
GENOMICS_ENGLAND
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
23280965
2013
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
GeneticVariation
disease
UNIPROT
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
23280965
2013
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
Biomarker
disease
GENOMICS_ENGLAND
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
23123320
2013
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
GeneticVariation
disease
UNIPROT
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
23123320
2013
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
GeneticVariation
disease
UNIPROT
An SNX10 mutation causes malignant osteopetrosis of infancy.
22499339
2012
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
CausalMutation
disease
CLINVAR
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
0.700
Biomarker
disease
CTD_human
Malignant neoplasm of liver
0.310
Biomarker
disease
CTD_human
Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models.
28108177
2017
Malignant neoplasm of liver
0.310
AlteredExpression
disease
BEFREE
Downregulation of sorting nexin 10 is associated with overexpression of miR-30d during liver cancer progression in rats.
28381192
2017
Infantile malignant osteopetrosis
0.310
Biomarker
disease
BEFREE
However, osteoclast-specific Snx10 knockout had no effect on calcium balance, and therefore led to severe osteopetrosis without rickets.
25811986
2015
Infantile malignant osteopetrosis
0.310
GermlineCausalMutation
disease
ORPHANET
Osteopetrosis: genetics, treatment and new insights into osteoclast function.
23877423
2013
Infantile malignant osteopetrosis
0.310
GermlineCausalMutation
disease
ORPHANET
An SNX10 mutation causes malignant osteopetrosis of infancy.
22499339
2012
Liver neoplasms
0.300
Biomarker
group
CTD_human
Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models.
28108177
2017
Osteopetrosis
0.140
GeneticVariation
disease
BEFREE
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
28592808
2017
Osteopetrosis
0.140
Biomarker
disease
BEFREE
Moreover, supplementation with calcium gluconate rescued mice from the rachitic phenotype and dramatically extended life span in global Snx10-deficient mice, suggesting that this may be a life-saving component of the clinical approach to Snx10 -dependent human osteopetrosis that has previously gone unrecognized.
25811986
2015
Osteopetrosis
0.140
GeneticVariation
disease
BEFREE
Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X ) in SNX10 , in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis .
23123320
2013
Osteopetrosis
0.140
GeneticVariation
disease
BEFREE
Determination of the sequence of the SNX10 gene is warranted in molecularly undefined patients with recessive 'pure' osteopetrosis of infancy.
22499339
2012
Osteopetrosis
0.140
Biomarker
disease
HPO
Waist-Hip Ratio
0.100
GeneticVariation
phenotype
GWASCAT
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
30239722
2019
Waist-Hip Ratio
0.100
GeneticVariation
phenotype
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
High density lipoprotein measurement
0.100
GeneticVariation
phenotype
GWASCAT
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
30275531
2018
Smoking
0.100
GeneticVariation
phenotype
GWASCAT
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
28443625
2017
Smoking Behaviors
0.100
GeneticVariation
phenotype
GWASCAT
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
28443625
2017
Anemia
0.100
Biomarker
disease
HPO
×
CUI:
C0003578
Disease:
Apnea
Apnea
0.100
Biomarker
phenotype
HPO