# GREAT version 4.0.4	Species assembly: hg38	Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included
# Ontology	 Term Name 	 Binom Rank 	 Binom Raw P-Value 	  Binom FDR Q-Val  	 Binom Fold Enrichment 	 Binom Observed Region Hits 	 Binom Region Set Coverage 	 Hyper Rank 	  Hyper FDR Q-Val  	 Hyper Fold Enrichment 	 Hyper Observed Gene Hits 	 Hyper Total Genes 	 Hyper Gene Set Coverage
GO Biological Process	mitochondrial electron transport, NADH to ubiquinone	2	3.057608e-24	2.0117531836e-20	39.05313	19	0.0745098	37	0.013725541184324324	7.45119	7	49	0.01944444	
GO Biological Process	mitochondrial ATP synthesis coupled electron transport	7	2.176398e-20	4.091317326e-17	17.33721	22	0.08627451	2	0.000163349180705	7.29095	13	93	0.03611111	
GO Biological Process	ATP synthesis coupled electron transport	8	4.849139e-20	7.976227512625e-17	16.68419	22	0.08627451	3	0.00012421538935666667	7.213387	13	94	0.03611111	
GO Biological Process	oxidative phosphorylation	10	1.112068e-19	1.4633702812e-16	16.03218	22	0.08627451	8	0.00012599324701749999	6.647631	13	102	0.03611111	
GO Biological Process	respiratory electron transport chain	15	7.998756e-17	7.0170420136e-14	11.64633	22	0.08627451	14	0.00022012177815	6.054092	13	112	0.03611111	
GO Biological Process	ATP metabolic process	16	1.562782e-16	1.285290521125e-13	9.120046	25	0.09803922	9	0.0001336982180111111	4.579756	18	205	0.05	
GO Biological Process	ribonucleoside triphosphate metabolic process	17	4.048387e-16	3.133689678411765e-13	7.795769	27	0.1058824	4	0.0001291566048225	4.364714	20	239	0.05555556	
GO Biological Process	purine ribonucleoside triphosphate metabolic process	18	1.545529e-15	1.1298675617222223e-12	7.776753	26	0.1019608	10	0.00018250822413999997	4.235078	19	234	0.05277778	
GO Biological Process	purine nucleoside triphosphate metabolic process	20	4.42271e-15	2.9099220444999995e-12	7.42951	26	0.1019608	13	0.00022251666553846155	4.112068	19	241	0.05277778	
GO Biological Process	nucleoside triphosphate metabolic process	21	5.442987e-15	3.410679330142857e-12	6.989902	27	0.1058824	11	0.00017645465348181818	4.027671	20	259	0.05555556	
GO Biological Process	purine ribonucleoside monophosphate metabolic process	23	2.473167e-14	1.414974111e-11	6.889906	26	0.1019608	17	0.0002820137026411765	3.979953	19	249	0.05277778	
GO Biological Process	purine nucleoside monophosphate metabolic process	25	2.532932e-14	1.33323408752e-11	6.882664	26	0.1019608	20	0.00025495161150499996	3.964033	19	250	0.05277778	
GO Biological Process	ribonucleoside monophosphate metabolic process	26	2.897111e-14	1.4662724480384614e-11	6.510124	27	0.1058824	12	0.0001832730690833333	3.996807	20	261	0.05555556	
GO Biological Process	nucleoside monophosphate metabolic process	27	8.961846e-14	4.3677382042222225e-11	6.202083	27	0.1058824	19	0.0002681512624263158	3.793333	20	275	0.05555556	
GO Biological Process	electron transport chain	28	2.629878e-13	1.2359487357857143e-10	7.291443	23	0.09019608	31	0.004333144089354838	4.056759	14	180	0.03888889	
GO Biological Process	purine ribonucleoside metabolic process	29	3.449495e-13	1.565238093275862e-10	5.376595	29	0.1137255	15	0.00029018963704	3.541615	22	324	0.06111111	
GO Biological Process	ribonucleoside metabolic process	30	4.08225e-13	1.790610925e-10	5.138439	30	0.1176471	16	0.00027528512858750003	3.417783	23	351	0.06388889	
GO Biological Process	purine nucleoside metabolic process	31	4.10347e-13	1.74185683e-10	5.338312	29	0.1137255	18	0.00028302172504444446	3.509123	22	327	0.06111111	
GO Biological Process	cellular respiration	34	1.16752e-12	4.5186457882352946e-10	7.187726	22	0.08627451	34	0.007593660259705883	4.084689	13	166	0.03611111	
GO Biological Process	glycosyl compound metabolic process	35	2.788725e-12	1.0484809221428571e-9	4.59407	31	0.1215686	23	0.00043512653611739124	3.161111	24	396	0.06666667	
GO Cellular Component	respiratory chain complex	3	1.654544e-20	9.530173440000001e-18	17.56617	22	0.08627451	3	0.0000656923392	7.1125	12	88	0.03333333	
GO Cellular Component	mitochondrial respiratory chain	4	1.464719e-19	6.32758608e-17	15.82117	22	0.08627451	5	0.0006362983296	6.103635	11	94	0.03055556	
GO Cellular Component	respiratory chain	5	2.355102e-19	8.139232512000001e-17	15.46346	22	0.08627451	2	0.00006618020543999999	6.647631	13	102	0.03611111	
GO Cellular Component	inner mitochondrial membrane protein complex	6	7.256414e-19	2.089847232e-16	12.41496	24	0.09411765	1	0.00010490596416000001	5.710766	15	137	0.04166667	
GO Cellular Component	oxidoreductase complex	7	2.830443e-17	6.987150720000001e-15	12.25524	22	0.08627451	7	0.01354174848	4.698949	10	111	0.02777778	
GO Cellular Component	mitochondrial protein complex	8	3.401274e-17	7.346751840000001e-15	10.43581	24	0.09411765	4	0.0002202410304	4.859472	15	161	0.04166667	
GO Cellular Component	mitochondrial respiratory chain complex I	9	9.359879e-17	1.797096768e-14	22.02622	16	0.0627451	15	0.047740066559999995	6.136275	6	51	0.01666667	
GO Cellular Component	mitochondrial membrane part	10	2.188238e-15	3.7812752639999997e-13	8.10894	25	0.09803922	6	0.001018207296	3.936478	16	212	0.04444444	
GO Cellular Component	mitochondrial inner membrane	12	1.029398e-10	1.48233312e-8	4.092596	30	0.1176471	10	0.016848345600000002	2.413766	23	497	0.06388889	
GO Cellular Component	organelle inner membrane	13	1.108021e-10	1.4728156061538462e-8	3.844687	32	0.1254902	11	0.028718323199999996	2.263653	24	553	0.06666667	
GO Cellular Component	mitochondrial membrane	18	5.283265e-9	5.0719344e-7	3.060751	35	0.1372549	12	0.033344136	2.074479	28	704	0.07777778	
GO Cellular Component	organelle envelope	20	6.10287e-8	0.00000527287968	2.287689	48	0.1882353	13	0.032991241846153846	1.793924	40	1163	0.1111111	
GO Molecular Function	NADH dehydrogenase (ubiquinone) activity	1	1.745848e-24	7.370970256000001e-21	40.24906	19	0.0745098	2	0.04596381628	8.113519	7	45	0.01944444	
GO Molecular Function	NADH dehydrogenase activity	2	2.334636e-24	4.9284165960000004e-21	39.62446	19	0.0745098	3	0.04109366891333333	7.768262	7	47	0.01944444	
Human Phenotype	Leber optic atrophy	1	4.1175e-72	2.74760775e-68	13210.55	19	0.0745098	1	2.1157540587e-12	52.15833	9	9	0.025	
Human Phenotype	Central retinal vessel vascular tortuosity	1	4.1175e-72	2.74760775e-68	13210.55	19	0.0745098	1	2.1157540587e-12	52.15833	9	9	0.025	
Human Phenotype	Hemianopia	1	4.1175e-72	2.74760775e-68	13210.55	19	0.0745098	6	9.997743286166666e-10	52.15833	7	7	0.01944444	
Human Phenotype	Stroke-like episode	4	7.340027e-45	1.224500004275e-41	485.1726	19	0.0745098	11	6.226272981818182e-8	36.51083	7	10	0.01944444	
Human Phenotype	Centrocecal scotoma	5	1.100283e-42	1.4684376918e-39	372.5136	19	0.0745098	3	6.9338075319999995e-12	46.9425	9	10	0.025	
Human Phenotype	Optic neuropathy	6	2.795577e-41	3.1091475535e-38	314.055	19	0.0745098	7	3.0704884812857146e-9	29.33906	9	16	0.025	
Human Phenotype	Wolff-Parkinson-White syndrome	7	5.272603e-39	5.026297117e-36	238.1509	19	0.0745098	18	0.0000010184010071666667	26.07917	7	14	0.01944444	
Human Phenotype	Episodic vomiting	8	1.612507e-37	1.345032401375e-34	198.7703	19	0.0745098	13	1.424980651923077e-7	33.19167	7	11	0.01944444	
Human Phenotype	Ragged-red muscle fibers	9	6.902877e-37	5.118099802333333e-34	121.6306	21	0.08235294	14	1.5321317627857141e-7	19.55938	9	24	0.025	
Human Phenotype	Mitochondrial myopathy	10	2.198838e-36	1.4672845973999999e-33	173.1196	19	0.0745098	10	6.4540335126e-8	27.81778	8	15	0.02222222	
Human Phenotype	Retinal vascular tortuosity	11	1.04022e-32	6.310352781818182e-30	110.5811	19	0.0745098	8	1.103758408625e-8	26.07917	9	18	0.025	
Human Phenotype	Abnormal retinal artery morphology	12	2.539855e-30	1.4123710345833334e-27	82.57374	19	0.0745098	12	7.034643235e-8	21.3375	9	22	0.025	
Human Phenotype	Hemiparesis	13	2.063342e-29	1.0591293204615386e-26	62.12253	20	0.07843137	20	0.00000214992282155	18.14203	8	23	0.02222222	
Human Phenotype	Arterial tortuosity	14	4.12442e-29	1.9658753328571428e-26	59.97773	20	0.07843137	4	7.1494288445e-11	32.59896	10	16	0.02777778	
Human Phenotype	Vascular tortuosity	15	9.515898e-29	4.2333058236e-26	57.48572	20	0.07843137	5	1.3654946554e-10	30.68137	10	17	0.02777778	
Human Phenotype	Abnormality of head blood vessel	16	1.492428e-28	6.2243575275e-26	66.4678	19	0.0745098	14	1.5321317627857141e-7	19.55938	9	24	0.025	
Human Phenotype	Muscle abnormality related to mitochondrial dysfunction	17	1.819432e-28	7.141805727058825e-26	65.76907	19	0.0745098	26	0.000030510983565384612	13.03958	8	32	0.02222222	
Human Phenotype	Hemiplegia/hemiparesis	18	1.939617e-28	7.190591245e-26	47.62795	21	0.08235294	19	0.0000011159584525789475	15.6475	9	30	0.025	
Human Phenotype	Bilateral sensorineural hearing impairment	19	2.624876e-27	9.218840814736841e-25	57.03255	19	0.0745098	27	0.00002955313525185185	16.59583	7	22	0.01944444	
Human Phenotype	Mitochondrial inheritance	20	1.858267e-26	6.200107845500001e-24	38.15262	21	0.08235294	9	1.9839348011111112e-8	12.32833	13	55	0.03611111