NIPA1, NIPA magnesium transporter 1, 123606

N. diseases: 50; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 AlteredExpression disease BEFREE In silico analysis of several available databases of AML patients showed that the expression of Spastic Paraplegia 6 Protein (SPG6) significantly inversely correlates with the overall survival of AML patients. 29715457 2018
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 CausalMutation disease CLINVAR A diagnostic gene chip for hereditary spastic paraplegias. 23850684 2013
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GeneticVariation disease BEFREE Two genetic deletions were identified: SPG4delEx17 in 12 of the 13 family members and a deletion of SPG6 (SPG6del) in 5. 19652142 2009
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 CausalMutation disease CLINVAR Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. 17928003 2008
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GermlineCausalMutation disease ORPHANET Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GeneticVariation disease UNIPROT Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. 15711826 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 CausalMutation disease CLINVAR Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GeneticVariation disease UNIPROT We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. 14508710 2003
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GeneticVariation disease BEFREE We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. 14508710 2003
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. 14508710 2003
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 GermlineCausalMutation disease ORPHANET We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated kindred with ADHSP that was too small for meaningful linkage analysis. 14508710 2003
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease CTD_human
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603 2005
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). 14508710 2003
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 GeneticVariation disease BEFREE NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). 30342764 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 CausalMutation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 GeneticVariation disease BEFREE Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia. 24075313 2013
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 GeneticVariation disease BEFREE Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. 22378146 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 GeneticVariation disease BEFREE These findings suggest that hereditary spastic paraplegia due to NIPA1 mutations could represent a TDP-43 proteinopathy. 22302102 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 GeneticVariation disease BEFREE NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 21599812 2011
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.200 Biomarker disease BEFREE Translocation of NIPA genes were found in patients with Prader-Willi syndrome, and loss-of-function of the NIPA1 gene was identified in hereditary spastic paraplegia. 19738379 2009