NKX6-2, NK6 homeobox 2, 84504

N. diseases: 47; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 Biomarker disease BEFREE These results may implicate NKX6B as a candidate tumor suppressor gene for brain tumors, particularly for oligodendrogliomas. 11210186 2001
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
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 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 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 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
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: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		0.010 GeneticVariation disease BEFREE Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. 28575651 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 AlteredExpression phenotype BEFREE The phenotypic and neuroimaging expression in NKX6-2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur. 31509304 2020
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		0.100 Biomarker phenotype HPO
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		0.100 Biomarker phenotype HPO
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 Biomarker disease BEFREE These results may implicate NKX6B as a candidate tumor suppressor gene for brain tumors, particularly for oligodendrogliomas. 11210186 2001
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 GeneticVariation disease BEFREE NKX6-2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. 31509304 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE These results may implicate NKX6B as a candidate tumor suppressor gene for brain tumors, particularly for oligodendrogliomas. 11210186 2001
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO