Gene: NIPA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		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
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		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
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia. 24075313 2013
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		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
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE These findings suggest that hereditary spastic paraplegia due to NIPA1 mutations could represent a TDP-43 proteinopathy. 22302102 2012
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. 21599812 2011
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		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
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. 18191948 2008
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. 17928003 2008
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease LHGDN Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. 17928003 2008
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. 17166836 2007
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.200 GeneticVariation disease BEFREE Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. 16795073 2006