Table 4 Open in new tab Human disease...

Term	Description	Gene set size	Number of leading edge IDs	Enrichment score	Normalized enrichment score	FDR P-value
Negatively weighted (more expressed) genes
DisGeNET
C0001125	acidosis, lactic	87	48	−0.606	−2.586	<0.0001
C0347959	lactic acidemia	85	47	−0.602	−2.550	<0.0001
C1167918	CSF lactate increased	33	22	−0.690	−2.410	<0.0001
C0006114	cerebral oedema	23	15	−0.702	−2.230	<0.001
C0023264	Leigh disease	33	21	−0.629	−2.216	<0.001
C0424551	impaired exercise tolerance	42	22	−0.599	−2.211	<0.001
C1836440	increased serum lactate	52	27	−0.571	−2.178	0.001
C4021546	abnormal mitochondria in muscle tissue	17	12	−0.751	−2.177	0.001
C1145670	respiratory failure	73	40	−0.528	−2.149	0.002
C1855020	acute necrotizing encephalopathy	14	11	−0.771	−2.126	0.003
OMIM
252010	mitochondrial complex I deficiency	20	15	−0.640	−2.019	<0.001
PharmGKB
PA447172	mitochondrial diseases	349	161	−0.464	−2.352	<0.0001
PA166048819	acidosis, respiratory	78	49	−0.552	−2.300	<0.0001
PA443242	acidosis	117	66	−0.514	−2.281	<0.0001
PA445837	thiamine deficiency	54	25	−0.570	−2.201	0.001
PA165108683	pyruvate dehydrogenase complex deficiency	26	12	−0.657	−2.197	<0.001
PA443243	acidosis, lactic	64	24	−0.544	−2.196	<0.001
PA447190	cytochrome-c oxidase deficiency	55	30	−0.555	−2.168	0.002
PA446467	mitochondrial encephalomyopathies	48	24	−0.572	−2.146	0.002
PA165857066	anemia, hemolytic, congenital nonspherocytic	10	7	−0.820	−2.082	0.006
PA165108373	biotinidase deficiency	44	22	−0.558	−2.077	0.006

Term

Description

Gene set size

Number of leading edge IDs

Enrichment score

Normalized enrichment score

FDR P-value

Negatively weighted (more expressed) genes

DisGeNET

C0001125

acidosis, lactic

−0.606

−2.586

<0.0001

C0347959

lactic acidemia

−0.602

−2.550

<0.0001

C1167918

CSF lactate increased

−0.690

−2.410

<0.0001

C0006114

cerebral oedema

−0.702

−2.230

<0.001

C0023264

Leigh disease

−0.629

−2.216

<0.001

C0424551

impaired exercise tolerance

−0.599

−2.211

<0.001

C1836440

increased serum lactate

−0.571

−2.178

0.001

C4021546

abnormal mitochondria in muscle tissue

−0.751

−2.177

0.001

C1145670

respiratory failure

−0.528

−2.149

0.002

C1855020

acute necrotizing encephalopathy

−0.771

−2.126

0.003

OMIM

252010

mitochondrial complex I deficiency

−0.640

−2.019

<0.001

PharmGKB

PA447172

mitochondrial diseases

349

161

−0.464

−2.352

<0.0001

PA166048819

acidosis, respiratory

−0.552

−2.300

<0.0001

PA443242

acidosis

117

−0.514

−2.281

<0.0001

PA445837

thiamine deficiency

−0.570

−2.201

0.001

PA165108683

pyruvate dehydrogenase complex deficiency

−0.657

−2.197

<0.001

PA443243

acidosis, lactic

−0.544

−2.196

<0.001

PA447190

cytochrome-c oxidase deficiency

−0.555

−2.168

0.002

PA446467

mitochondrial encephalomyopathies

−0.572

−2.146

0.002

PA165857066

anemia, hemolytic, congenital nonspherocytic

−0.820

−2.082

0.006

PA165108373

biotinidase deficiency

−0.558

−2.077

0.006

Term	Description	Gene set size	Number of leading edge IDs	Enrichment score	Normalized enrichment score	FDR P-value
Negatively weighted (more expressed) genes
DisGeNET
C0001125	acidosis, lactic	87	48	−0.606	−2.586	<0.0001
C0347959	lactic acidemia	85	47	−0.602	−2.550	<0.0001
C1167918	CSF lactate increased	33	22	−0.690	−2.410	<0.0001
C0006114	cerebral oedema	23	15	−0.702	−2.230	<0.001
C0023264	Leigh disease	33	21	−0.629	−2.216	<0.001
C0424551	impaired exercise tolerance	42	22	−0.599	−2.211	<0.001
C1836440	increased serum lactate	52	27	−0.571	−2.178	0.001
C4021546	abnormal mitochondria in muscle tissue	17	12	−0.751	−2.177	0.001
C1145670	respiratory failure	73	40	−0.528	−2.149	0.002
C1855020	acute necrotizing encephalopathy	14	11	−0.771	−2.126	0.003
OMIM
252010	mitochondrial complex I deficiency	20	15	−0.640	−2.019	<0.001
PharmGKB
PA447172	mitochondrial diseases	349	161	−0.464	−2.352	<0.0001
PA166048819	acidosis, respiratory	78	49	−0.552	−2.300	<0.0001
PA443242	acidosis	117	66	−0.514	−2.281	<0.0001
PA445837	thiamine deficiency	54	25	−0.570	−2.201	0.001
PA165108683	pyruvate dehydrogenase complex deficiency	26	12	−0.657	−2.197	<0.001
PA443243	acidosis, lactic	64	24	−0.544	−2.196	<0.001
PA447190	cytochrome-c oxidase deficiency	55	30	−0.555	−2.168	0.002
PA446467	mitochondrial encephalomyopathies	48	24	−0.572	−2.146	0.002
PA165857066	anemia, hemolytic, congenital nonspherocytic	10	7	−0.820	−2.082	0.006
PA165108373	biotinidase deficiency	44	22	−0.558	−2.077	0.006

Table 4

Open in new tab

Human disease gene terms enriched in the genes predicting cortical thinning in iRBD

Term	Description	Gene set size	Number of leading edge IDs	Enrichment score	Normalized enrichment score	FDR P-value
Negatively weighted (more expressed) genes
DisGeNET
C0001125	acidosis, lactic	87	48	−0.606	−2.586	<0.0001
C0347959	lactic acidemia	85	47	−0.602	−2.550	<0.0001
C1167918	CSF lactate increased	33	22	−0.690	−2.410	<0.0001
C0006114	cerebral oedema	23	15	−0.702	−2.230	<0.001
C0023264	Leigh disease	33	21	−0.629	−2.216	<0.001
C0424551	impaired exercise tolerance	42	22	−0.599	−2.211	<0.001
C1836440	increased serum lactate	52	27	−0.571	−2.178	0.001
C4021546	abnormal mitochondria in muscle tissue	17	12	−0.751	−2.177	0.001
C1145670	respiratory failure	73	40	−0.528	−2.149	0.002
C1855020	acute necrotizing encephalopathy	14	11	−0.771	−2.126	0.003
OMIM
252010	mitochondrial complex I deficiency	20	15	−0.640	−2.019	<0.001
PharmGKB
PA447172	mitochondrial diseases	349	161	−0.464	−2.352	<0.0001
PA166048819	acidosis, respiratory	78	49	−0.552	−2.300	<0.0001
PA443242	acidosis	117	66	−0.514	−2.281	<0.0001
PA445837	thiamine deficiency	54	25	−0.570	−2.201	0.001
PA165108683	pyruvate dehydrogenase complex deficiency	26	12	−0.657	−2.197	<0.001
PA443243	acidosis, lactic	64	24	−0.544	−2.196	<0.001
PA447190	cytochrome-c oxidase deficiency	55	30	−0.555	−2.168	0.002
PA446467	mitochondrial encephalomyopathies	48	24	−0.572	−2.146	0.002
PA165857066	anemia, hemolytic, congenital nonspherocytic	10	7	−0.820	−2.082	0.006
PA165108373	biotinidase deficiency	44	22	−0.558	−2.077	0.006

Term	Description	Gene set size	Number of leading edge IDs	Enrichment score	Normalized enrichment score	FDR P-value
Negatively weighted (more expressed) genes
DisGeNET
C0001125	acidosis, lactic	87	48	−0.606	−2.586	<0.0001
C0347959	lactic acidemia	85	47	−0.602	−2.550	<0.0001
C1167918	CSF lactate increased	33	22	−0.690	−2.410	<0.0001
C0006114	cerebral oedema	23	15	−0.702	−2.230	<0.001
C0023264	Leigh disease	33	21	−0.629	−2.216	<0.001
C0424551	impaired exercise tolerance	42	22	−0.599	−2.211	<0.001
C1836440	increased serum lactate	52	27	−0.571	−2.178	0.001
C4021546	abnormal mitochondria in muscle tissue	17	12	−0.751	−2.177	0.001
C1145670	respiratory failure	73	40	−0.528	−2.149	0.002
C1855020	acute necrotizing encephalopathy	14	11	−0.771	−2.126	0.003
OMIM
252010	mitochondrial complex I deficiency	20	15	−0.640	−2.019	<0.001
PharmGKB
PA447172	mitochondrial diseases	349	161	−0.464	−2.352	<0.0001
PA166048819	acidosis, respiratory	78	49	−0.552	−2.300	<0.0001
PA443242	acidosis	117	66	−0.514	−2.281	<0.0001
PA445837	thiamine deficiency	54	25	−0.570	−2.201	0.001
PA165108683	pyruvate dehydrogenase complex deficiency	26	12	−0.657	−2.197	<0.001
PA443243	acidosis, lactic	64	24	−0.544	−2.196	<0.001
PA447190	cytochrome-c oxidase deficiency	55	30	−0.555	−2.168	0.002
PA446467	mitochondrial encephalomyopathies	48	24	−0.572	−2.146	0.002
PA165857066	anemia, hemolytic, congenital nonspherocytic	10	7	−0.820	−2.082	0.006
PA165108373	biotinidase deficiency	44	22	−0.558	−2.077	0.006

The human disease terms enriched in the genes predicting cortical thinning in iRBD using the DisGeNET, OMIM, and PharmGKB knowledge bases. Terms are reported ranked based on the normalized enrichment score. Only terms enriched after applying FDR correction are shown.

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