FASTKD2, FAST kinase domains 2, 22868

N. diseases: 60; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. 28499982 2017
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. 28499982 2017
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 GeneticVariation disease BEFREE FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 18771761 2008
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 Biomarker disease CTD_human
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4755278
Disease: FASTKD2-related infantile mitochondrial encephalomyopathy
FASTKD2-related infantile mitochondrial encephalomyopathy 		0.300 GermlineCausalMutation disease ORPHANET FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 18771761 2008
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic 		0.100 GeneticVariation phenotype GWASCAT FASTKD2 is associated with memory and hippocampal structure in older adults. 25385369 2015
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017979
Disease: Glycosuria
Glycosuria 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO