SNX10, sorting nexin 10, 29887

N. diseases: 83; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation disease UNIPROT An SNX10 mutation causes malignant osteopetrosis of infancy. 22499339 2012
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
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
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
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
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 		0.700 CausalMutation disease CLINVAR
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 		0.700 Biomarker disease CTD_human
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
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
CUI: C3554478
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
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
CUI: C0345904
Disease: Malignant neoplasm of liver
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
CUI: C0345904
Disease: Malignant neoplasm of liver
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
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		0.310 GermlineCausalMutation disease ORPHANET Osteopetrosis: genetics, treatment and new insights into osteoclast function. 23877423 2013
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		0.310 GermlineCausalMutation disease ORPHANET An SNX10 mutation causes malignant osteopetrosis of infancy. 22499339 2012
CUI: C1318518
Disease: Infantile malignant osteopetrosis
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
CUI: C0029454
Disease: Osteopetrosis
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
CUI: C0029454
Disease: Osteopetrosis
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
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.140 GeneticVariation disease BEFREE SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. 28592808 2017
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.140 Biomarker disease HPO
CUI: C0029454
Disease: Osteopetrosis
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
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0008711
Disease: Chronic rhinitis
Chronic rhinitis 		0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO