* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID	Gene_Symbol	DisGeNet_diseaseID	Disease_name	DisGeNet score	DisGeNet_sourceDB
5160	PDHA1	C1839413	Pyruvate Dehydrogenase E1 Alpha Deficiency	0.4	ORPHANET;UNIPROT
5160	PDHA1	C0034345	Pyruvate Dehydrogenase Complex Deficiency Disease	0.20439562854741	BEFREE;CTD_human
5160	PDHA1	C0001125	Acidosis, Lactic	0.200549453568426	BEFREE;CTD_human
5160	PDHA1	C0013421	Dystonia	0.200274726784213	BEFREE;HPO
5160	PDHA1	C0014544	Epilepsy	0.200274726784213	BEFREE;HPO
5160	PDHA1	C0023264	Leigh Disease	0.200274726784213	BEFREE;ORPHANET
5160	PDHA1	C0036572	Seizures	0.200274726784213	BEFREE;HPO
5160	PDHA1	C0005745	Blepharoptosis	0.2	HPO
5160	PDHA1	C0023380	Lethargy	0.2	HPO
5160	PDHA1	C0024032	Low Birth Weights	0.2	HPO
5160	PDHA1	C0025362	Mental Retardation	0.2	HPO
5160	PDHA1	C0026827	Muscle hypotonia	0.2	HPO
5160	PDHA1	C0029408	Degenerative polyarthritis	0.2	CTD_human
5160	PDHA1	C0033578	Prostatic Neoplasms	0.2	CTD_human
5160	PDHA1	C0034350	Pyruvate Metabolism, Inborn Errors	0.2	CTD_human
5160	PDHA1	C0038356	Stomach Neoplasms	0.2	CTD_human
5160	PDHA1	C0085583	Choreoathetosis	0.2	HPO
5160	PDHA1	C0151744	Myocardial Ischemia	0.2	CTD_human
5160	PDHA1	C0154671	Degenerative brain disorder	0.2	HPO
5160	PDHA1	C0175754	Agenesis of corpus callosum	0.2	HPO
5160	PDHA1	C0221354	Frontal bossing	0.2	HPO
5160	PDHA1	C0234967	Choreoathetoid movements	0.2	HPO
5160	PDHA1	C0235946	Cerebral atrophy	0.2	HPO
5160	PDHA1	C0235991	Small for gestational age (disorder)	0.2	HPO
5160	PDHA1	C0268630	Hyper-beta-alaninemia	0.2	HPO
5160	PDHA1	C0277873	Nasal flaring	0.2	HPO
5160	PDHA1	C0423903	Low intelligence	0.2	HPO
5160	PDHA1	C0424688	Small head	0.2	HPO
5160	PDHA1	C0497202	Abnormal ocular motility	0.2	HPO
5160	PDHA1	C0557874	Global developmental delay	0.2	HPO
5160	PDHA1	C0917816	Mental deficiency	0.2	HPO
5160	PDHA1	C1167918	CSF lactate increased	0.2	HPO
5160	PDHA1	C1720189	Episodic Ataxia	0.2	HPO
5160	PDHA1	C1836440	Increased serum lactate	0.2	HPO
5160	PDHA1	C1837251	Basal ganglia cysts	0.2	HPO
5160	PDHA1	C1837514	Phenotypic variability	0.2	HPO
5160	PDHA1	C1839039	Highly variable clinical phenotype	0.2	HPO
5160	PDHA1	C1839424	Increased blood alanine	0.2	HPO
5160	PDHA1	C1839436	Lactic acidosis, severe	0.2	HPO
5160	PDHA1	C1839437	Lactic acidosis, chronic	0.2	HPO
5160	PDHA1	C1839764	Broad flat nasal bridge	0.2	HPO
5160	PDHA1	C1839888	Decreased activity of the pyruvate dehydrogenase complex	0.2	HPO
5160	PDHA1	C1840077	Anteverted nostril	0.2	HPO
5160	PDHA1	C1843367	Poor school performance	0.2	HPO
5160	PDHA1	C1847879	X-linked dominant	0.2	HPO
5160	PDHA1	C1848924	Infantile onset	0.2	HPO
5160	PDHA1	C1849367	Nasal bridge wide	0.2	HPO
5160	PDHA1	C1849489	Increased serum alanine	0.2	HPO
5160	PDHA1	C1850667	Highly variable phenotype and severity	0.2	HPO
5160	PDHA1	C1864897	Cognitive delay	0.2	HPO
5160	PDHA1	C1865014	Long philtrum	0.2	HPO
5160	PDHA1	C1866210	Highly variable phenotype, even within families	0.2	HPO
5160	PDHA1	C3278923	Dilated ventricles (finding)	0.2	HPO
5160	PDHA1	C3714756	Intellectual Disability	0.2	HPO
5160	PDHA1	C3806462	Apneic episodes precipitated by illness, fatigue, stress	0.2	HPO
5160	PDHA1	C4020860	Supratentorial atrophy	0.2	HPO
5160	PDHA1	C4020871	Dystonic disease	0.2	HPO
5160	PDHA1	C4020875	Mental and motor retardation	0.2	HPO
5160	PDHA1	C4020876	Dull intelligence	0.2	HPO
5160	PDHA1	C0004134	Ataxia	0.0002747267842131	BEFREE
5160	PDHA1	C0007758	Cerebellar Ataxia	0.0002747267842131	BEFREE
5160	PDHA1	C0008626	Congenital chromosomal disease	0.0002747267842131	BEFREE
5160	PDHA1	C0265252	Coffin-Lowry syndrome	0.0002747267842131	BEFREE
5160	PDHA1	C0393593	Dystonia Disorders	0.0002747267842131	BEFREE
5160	PDHA1	C4025276	Congenital lactic acidosis	0.0002747267842131	BEFREE