NKX6-2, NK6 homeobox 2, 84504

N. diseases: 47; N. variants: 8
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Expanding the clinical and genetic spectra of NKX6-2-related disorder. 29388673 2018
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651 2017
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 GeneticVariation disease UNIPROT Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651 2017
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651 2017
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 GermlineCausalMutation disease ORPHANET Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651 2017
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 Biomarker disease GENOMICS_ENGLAND CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure. 15601927 2004
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 CausalMutation disease CLINVAR