FXN (frataxin)

Gene

• Entrez ID: 2395
• Gene name: Frataxin
• Gene symbol: FXN
• Synonyms (NCBI Gene): CyaY, FA, FARR, FRDA, X25
• Chromosome: 9
• Chromosome location: 9q21.11
• Summary: This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56214919	T>G	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs104894105	T>C,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894106	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs104894107	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104894108	G>A,T	Pathogenic	Initiator codon variant, missense variant
rs140987490	A>G	Pathogenic	Splice acceptor variant
rs141935559	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs143232208	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs145854903	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs146818694	C>G	Pathogenic	Missense variant, coding sequence variant
rs367974156	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs372775073	T>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs886037630	ATGTCT>TACACCTTGAGGACA	Pathogenic	Coding sequence variant, inframe indel
rs1057519131	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1554761915	G>C	Likely-pathogenic	Splice acceptor variant
rs1554762735	A>G	Likely-pathogenic	Splice acceptor variant
rs1564326640	->TT	Likely-pathogenic	Splice donor variant
rs1587832283	T>G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007228	hsa-miR-559	Luciferase reporter assay	23382970
MIRT007229	hsa-miR-589-5p	Luciferase reporter assay	23382970
MIRT007230	hsa-miR-1270	Luciferase reporter assay	23382970
MIRT007231	hsa-miR-620	Luciferase reporter assay	23382970
MIRT007232	hsa-miR-522-3p	Luciferase reporter assay	23382970
MIRT007233	hsa-miR-299-3p	Luciferase reporter assay	23382970
MIRT007234	hsa-miR-506-3p	Luciferase reporter assay	23382970
MIRT007235	hsa-miR-124-3p	Luciferase reporter assay	23382970
MIRT007236	hsa-miR-624-3p	Luciferase reporter assay	23382970
MIRT048445	hsa-miR-100-5p	CLASH	23622248
MIRT036668	hsa-miR-935	CLASH	23622248
MIRT721558	hsa-miR-936	HITS-CLIP	19536157
MIRT721557	hsa-miR-199a-3p	HITS-CLIP	19536157
MIRT721556	hsa-miR-199b-3p	HITS-CLIP	19536157
MIRT721555	hsa-miR-3129-5p	HITS-CLIP	19536157
MIRT721554	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT721553	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT721552	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT721551	hsa-miR-4651	HITS-CLIP	19536157
MIRT721550	hsa-miR-608	HITS-CLIP	19536157
MIRT721549	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT721548	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT721547	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT721546	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT721545	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT721544	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT721543	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721542	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721541	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT678260	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT678259	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT678258	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678257	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT679832	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678254	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT678253	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT678252	hsa-miR-640	HITS-CLIP	23824327
MIRT678251	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT678260	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT678259	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT672892	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT678258	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678257	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678256	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678255	hsa-miR-6131	HITS-CLIP	23824327
MIRT678254	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT678253	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT678252	hsa-miR-640	HITS-CLIP	23824327
MIRT678251	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT672892	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT644353	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT635205	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635204	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT635203	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635202	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635201	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635200	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635199	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635198	hsa-miR-4284	HITS-CLIP	23824327
MIRT635205	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635204	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT635203	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635202	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635201	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635200	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635199	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635198	hsa-miR-4284	HITS-CLIP	23824327
MIRT563222	hsa-miR-7153-3p	PAR-CLIP	20371350
MIRT563215	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT563221	hsa-miR-6087	PAR-CLIP	20371350
MIRT563220	hsa-miR-1908-5p	PAR-CLIP	20371350
MIRT563219	hsa-miR-663a	PAR-CLIP	20371350
MIRT563217	hsa-miR-6787-5p	PAR-CLIP	20371350
MIRT563218	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT563216	hsa-miR-6866-5p	PAR-CLIP	20371350
MIRT563215	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT563214	hsa-miR-2681-5p	PAR-CLIP	20371350
MIRT107876	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT107879	hsa-miR-3662	PAR-CLIP	23592263
MIRT107878	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454288	hsa-miR-6082	PAR-CLIP	23592263
MIRT454287	hsa-miR-8066	PAR-CLIP	23592263
MIRT107873	hsa-miR-369-3p	PAR-CLIP	23592263
MIRT454286	hsa-miR-5692b	PAR-CLIP	23592263
MIRT454285	hsa-miR-5692c	PAR-CLIP	23592263
MIRT107875	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT454284	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT454283	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT454282	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT454281	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT454280	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT454279	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT454278	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT454277	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT454276	hsa-miR-4458	PAR-CLIP	23592263
MIRT454275	hsa-miR-4500	PAR-CLIP	23592263
MIRT454274	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT454273	hsa-miR-202-3p	PAR-CLIP	23592263
MIRT107881	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT107874	hsa-miR-374a-5p	PAR-CLIP	23592263
MIRT107877	hsa-miR-374b-5p	PAR-CLIP	23592263
MIRT735358	hsa-miR-224-5p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32291635
MIRT721558	hsa-miR-936	HITS-CLIP	19536157
MIRT721557	hsa-miR-199a-3p	HITS-CLIP	19536157
MIRT721556	hsa-miR-199b-3p	HITS-CLIP	19536157
MIRT721555	hsa-miR-3129-5p	HITS-CLIP	19536157
MIRT721554	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT721553	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT721552	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT721551	hsa-miR-4651	HITS-CLIP	19536157
MIRT721550	hsa-miR-608	HITS-CLIP	19536157
MIRT721549	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT721548	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT721547	hsa-miR-222-5p	HITS-CLIP	19536157
MIRT721546	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT721545	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT721544	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT721543	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721542	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721541	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT678260	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT678259	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT678258	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678257	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT679832	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678254	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT678253	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT678252	hsa-miR-640	HITS-CLIP	23824327
MIRT678251	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT678260	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT678259	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT672892	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT678258	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT678257	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT678256	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT678255	hsa-miR-6131	HITS-CLIP	23824327
MIRT678254	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT678253	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT678252	hsa-miR-640	HITS-CLIP	23824327
MIRT678251	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT672893	hsa-miR-764	HITS-CLIP	23824327
MIRT672892	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT672891	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672889	hsa-miR-4635	HITS-CLIP	23824327
MIRT672890	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT672888	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT672887	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT672886	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT672884	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT672885	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT644353	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT635205	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635204	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT635203	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635202	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635201	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635200	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635199	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635198	hsa-miR-4284	HITS-CLIP	23824327
MIRT635205	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635204	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT635203	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635202	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635201	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635200	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635199	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635198	hsa-miR-4284	HITS-CLIP	23824327
MIRT563222	hsa-miR-7153-3p	PAR-CLIP	20371350
MIRT563215	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT563221	hsa-miR-6087	PAR-CLIP	20371350
MIRT563220	hsa-miR-1908-5p	PAR-CLIP	20371350
MIRT563219	hsa-miR-663a	PAR-CLIP	20371350
MIRT563217	hsa-miR-6787-5p	PAR-CLIP	20371350
MIRT563218	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT563216	hsa-miR-6866-5p	PAR-CLIP	20371350
MIRT563215	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT563214	hsa-miR-2681-5p	PAR-CLIP	20371350
MIRT107876	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT107879	hsa-miR-3662	PAR-CLIP	23592263
MIRT107878	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454288	hsa-miR-6082	PAR-CLIP	23592263
MIRT454287	hsa-miR-8066	PAR-CLIP	23592263
MIRT107873	hsa-miR-369-3p	PAR-CLIP	23592263
MIRT454286	hsa-miR-5692b	PAR-CLIP	23592263
MIRT454285	hsa-miR-5692c	PAR-CLIP	23592263
MIRT107875	hsa-miR-545-5p	PAR-CLIP	23592263
MIRT454284	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT454283	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT454282	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT454281	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT454280	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT454279	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT454278	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT454277	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT454276	hsa-miR-4458	PAR-CLIP	23592263
MIRT454275	hsa-miR-4500	PAR-CLIP	23592263
MIRT454274	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT454273	hsa-miR-202-3p	PAR-CLIP	23592263
MIRT107881	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT107874	hsa-miR-374a-5p	PAR-CLIP	23592263
MIRT107877	hsa-miR-374b-5p	PAR-CLIP	23592263
MIRT1007136	hsa-let-7a	CLIP-seq
MIRT1007137	hsa-let-7b	CLIP-seq
MIRT1007138	hsa-let-7c	CLIP-seq
MIRT1007139	hsa-let-7d	CLIP-seq
MIRT1007140	hsa-let-7e	CLIP-seq
MIRT1007141	hsa-let-7f	CLIP-seq
MIRT1007142	hsa-let-7g	CLIP-seq
MIRT1007143	hsa-let-7i	CLIP-seq
MIRT1007144	hsa-miR-106a	CLIP-seq
MIRT1007145	hsa-miR-106b	CLIP-seq
MIRT1007146	hsa-miR-1207-5p	CLIP-seq
MIRT1007147	hsa-miR-122	CLIP-seq
MIRT1007148	hsa-miR-1227	CLIP-seq
MIRT1007149	hsa-miR-124	CLIP-seq
MIRT1007150	hsa-miR-1253	CLIP-seq
MIRT1007151	hsa-miR-1255a	CLIP-seq
MIRT1007152	hsa-miR-1255b	CLIP-seq
MIRT1007153	hsa-miR-1272	CLIP-seq
MIRT1007154	hsa-miR-1273e	CLIP-seq
MIRT1007155	hsa-miR-1283	CLIP-seq
MIRT1007156	hsa-miR-1285	CLIP-seq
MIRT1007157	hsa-miR-1290	CLIP-seq
MIRT1007158	hsa-miR-1294	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT1007160	hsa-miR-1307	CLIP-seq
MIRT1007161	hsa-miR-1321	CLIP-seq
MIRT1007162	hsa-miR-142-5p	CLIP-seq
MIRT1007163	hsa-miR-17	CLIP-seq
MIRT1007164	hsa-miR-1908	CLIP-seq
MIRT1007165	hsa-miR-1909	CLIP-seq
MIRT1007166	hsa-miR-1972	CLIP-seq
MIRT1007167	hsa-miR-19a	CLIP-seq
MIRT1007168	hsa-miR-19b	CLIP-seq
MIRT1007169	hsa-miR-202	CLIP-seq
MIRT1007170	hsa-miR-205	CLIP-seq
MIRT1007171	hsa-miR-20a	CLIP-seq
MIRT1007172	hsa-miR-20b	CLIP-seq
MIRT1007173	hsa-miR-216a	CLIP-seq
MIRT1007174	hsa-miR-216b	CLIP-seq
MIRT1007175	hsa-miR-23a	CLIP-seq
MIRT1007176	hsa-miR-23b	CLIP-seq
MIRT1007177	hsa-miR-23c	CLIP-seq
MIRT1007178	hsa-miR-2964a-3p	CLIP-seq
MIRT1007179	hsa-miR-302f	CLIP-seq
MIRT1007180	hsa-miR-3065-5p	CLIP-seq
MIRT1007181	hsa-miR-3121-3p	CLIP-seq
MIRT1007182	hsa-miR-3122	CLIP-seq
MIRT1007183	hsa-miR-3123	CLIP-seq
MIRT1007184	hsa-miR-3126-5p	CLIP-seq
MIRT1007185	hsa-miR-3135b	CLIP-seq
MIRT1007186	hsa-miR-3146	CLIP-seq
MIRT1007187	hsa-miR-3149	CLIP-seq
MIRT739800	hsa-miR-3176	CLIP-seq
MIRT1007188	hsa-miR-3187-3p	CLIP-seq
MIRT1007189	hsa-miR-3187-5p	CLIP-seq
MIRT1007190	hsa-miR-340	CLIP-seq
MIRT1007191	hsa-miR-345	CLIP-seq
MIRT1007192	hsa-miR-3545-3p	CLIP-seq
MIRT1007193	hsa-miR-3609	CLIP-seq
MIRT1007194	hsa-miR-3613-3p	CLIP-seq
MIRT1007195	hsa-miR-3619-3p	CLIP-seq
MIRT1007196	hsa-miR-3652	CLIP-seq
MIRT1007197	hsa-miR-3654	CLIP-seq
MIRT1007198	hsa-miR-3675-3p	CLIP-seq
MIRT1007199	hsa-miR-3689a-3p	CLIP-seq
MIRT1007200	hsa-miR-3689c	CLIP-seq
MIRT1007201	hsa-miR-3692	CLIP-seq
MIRT1007202	hsa-miR-3714	CLIP-seq
MIRT1007203	hsa-miR-371-5p	CLIP-seq
MIRT1007204	hsa-miR-371b-5p	CLIP-seq
MIRT1007205	hsa-miR-374a	CLIP-seq
MIRT1007206	hsa-miR-374b	CLIP-seq
MIRT1007207	hsa-miR-3910	CLIP-seq
MIRT1007208	hsa-miR-3913-5p	CLIP-seq
MIRT1007209	hsa-miR-3919	CLIP-seq
MIRT739801	hsa-miR-3922-3p	CLIP-seq
MIRT1007210	hsa-miR-3929	CLIP-seq
MIRT1007211	hsa-miR-3934	CLIP-seq
MIRT1007212	hsa-miR-411	CLIP-seq
MIRT1007213	hsa-miR-4252	CLIP-seq
MIRT1007214	hsa-miR-4269	CLIP-seq
MIRT1007215	hsa-miR-4316	CLIP-seq
MIRT1007216	hsa-miR-4419a	CLIP-seq
MIRT1007217	hsa-miR-4419b	CLIP-seq
MIRT1007218	hsa-miR-4421	CLIP-seq
MIRT1007219	hsa-miR-4430	CLIP-seq
MIRT1007220	hsa-miR-4434	CLIP-seq
MIRT1007221	hsa-miR-4435	CLIP-seq
MIRT1007222	hsa-miR-4438	CLIP-seq
MIRT1007223	hsa-miR-4455	CLIP-seq
MIRT1007224	hsa-miR-4478	CLIP-seq
MIRT1007225	hsa-miR-4510	CLIP-seq
MIRT1007226	hsa-miR-4516	CLIP-seq
MIRT1007227	hsa-miR-4536	CLIP-seq
MIRT1007228	hsa-miR-4643	CLIP-seq
MIRT1007229	hsa-miR-4646-5p	CLIP-seq
MIRT1007230	hsa-miR-4649-3p	CLIP-seq
MIRT1007231	hsa-miR-4659a-5p	CLIP-seq
MIRT1007232	hsa-miR-4659b-5p	CLIP-seq
MIRT1007233	hsa-miR-4684-5p	CLIP-seq
MIRT1007234	hsa-miR-4696	CLIP-seq
MIRT1007235	hsa-miR-4700-3p	CLIP-seq
MIRT1007236	hsa-miR-4701-5p	CLIP-seq
MIRT1007237	hsa-miR-4708-3p	CLIP-seq
MIRT739802	hsa-miR-4716-5p	CLIP-seq
MIRT1007238	hsa-miR-4717-3p	CLIP-seq
MIRT1007239	hsa-miR-4728-5p	CLIP-seq
MIRT1007240	hsa-miR-4729	CLIP-seq
MIRT1007241	hsa-miR-4731-5p	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007243	hsa-miR-4739	CLIP-seq
MIRT1007244	hsa-miR-4755-3p	CLIP-seq
MIRT1007245	hsa-miR-4756-5p	CLIP-seq
MIRT1007246	hsa-miR-4763-3p	CLIP-seq
MIRT1007247	hsa-miR-4768-3p	CLIP-seq
MIRT1007248	hsa-miR-4768-5p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT1007250	hsa-miR-4776-3p	CLIP-seq
MIRT1007251	hsa-miR-4776-5p	CLIP-seq
MIRT1007252	hsa-miR-4781-3p	CLIP-seq
MIRT1007253	hsa-miR-4796-3p	CLIP-seq
MIRT1007254	hsa-miR-4802-3p	CLIP-seq
MIRT1007255	hsa-miR-485-5p	CLIP-seq
MIRT1007256	hsa-miR-490-5p	CLIP-seq
MIRT1007257	hsa-miR-506	CLIP-seq
MIRT1007258	hsa-miR-5095	CLIP-seq
MIRT1007259	hsa-miR-519a	CLIP-seq
MIRT1007260	hsa-miR-519b-3p	CLIP-seq
MIRT1007261	hsa-miR-519c-3p	CLIP-seq
MIRT1007262	hsa-miR-519d	CLIP-seq
MIRT1007263	hsa-miR-520g	CLIP-seq
MIRT1007264	hsa-miR-520h	CLIP-seq
MIRT1007265	hsa-miR-548ah	CLIP-seq
MIRT1007266	hsa-miR-548s	CLIP-seq
MIRT1007267	hsa-miR-568	CLIP-seq
MIRT1007268	hsa-miR-588	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1007270	hsa-miR-612	CLIP-seq
MIRT1007271	hsa-miR-642b	CLIP-seq
MIRT1007272	hsa-miR-657	CLIP-seq
MIRT1007273	hsa-miR-661	CLIP-seq
MIRT1007274	hsa-miR-663	CLIP-seq
MIRT1007275	hsa-miR-665	CLIP-seq
MIRT1007276	hsa-miR-93	CLIP-seq
MIRT1007277	hsa-miR-98	CLIP-seq
MIRT1007278	hsa-miR-185	CLIP-seq
MIRT1007279	hsa-miR-4306	CLIP-seq
MIRT1007280	hsa-miR-4531	CLIP-seq
MIRT1007281	hsa-miR-4644	CLIP-seq
MIRT1007144	hsa-miR-106a	CLIP-seq
MIRT1007145	hsa-miR-106b	CLIP-seq
MIRT1998427	hsa-miR-1258	CLIP-seq
MIRT1007154	hsa-miR-1273e	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT1998428	hsa-miR-1303	CLIP-seq
MIRT1998429	hsa-miR-150	CLIP-seq
MIRT1998430	hsa-miR-153	CLIP-seq
MIRT1007163	hsa-miR-17	CLIP-seq
MIRT1998431	hsa-miR-184	CLIP-seq
MIRT1007171	hsa-miR-20a	CLIP-seq
MIRT1007172	hsa-miR-20b	CLIP-seq
MIRT1998432	hsa-miR-218	CLIP-seq
MIRT1998433	hsa-miR-223	CLIP-seq
MIRT1007175	hsa-miR-23a	CLIP-seq
MIRT1007176	hsa-miR-23b	CLIP-seq
MIRT1007177	hsa-miR-23c	CLIP-seq
MIRT1007178	hsa-miR-2964a-3p	CLIP-seq
MIRT1998434	hsa-miR-302a	CLIP-seq
MIRT1998435	hsa-miR-302b	CLIP-seq
MIRT1998436	hsa-miR-302c	CLIP-seq
MIRT1998437	hsa-miR-302d	CLIP-seq
MIRT1998438	hsa-miR-302e	CLIP-seq
MIRT1007179	hsa-miR-302f	CLIP-seq
MIRT1007183	hsa-miR-3123	CLIP-seq
MIRT1998439	hsa-miR-3152-5p	CLIP-seq
MIRT739800	hsa-miR-3176	CLIP-seq
MIRT1007188	hsa-miR-3187-3p	CLIP-seq
MIRT1007192	hsa-miR-3545-3p	CLIP-seq
MIRT1998440	hsa-miR-3655	CLIP-seq
MIRT1007203	hsa-miR-371-5p	CLIP-seq
MIRT1007204	hsa-miR-371b-5p	CLIP-seq
MIRT1998441	hsa-miR-372	CLIP-seq
MIRT1998442	hsa-miR-373	CLIP-seq
MIRT1007205	hsa-miR-374a	CLIP-seq
MIRT1007206	hsa-miR-374b	CLIP-seq
MIRT1007209	hsa-miR-3919	CLIP-seq
MIRT739801	hsa-miR-3922-3p	CLIP-seq
MIRT1007210	hsa-miR-3929	CLIP-seq
MIRT1007211	hsa-miR-3934	CLIP-seq
MIRT1998443	hsa-miR-3973	CLIP-seq
MIRT1007214	hsa-miR-4269	CLIP-seq
MIRT1007217	hsa-miR-4419b	CLIP-seq
MIRT1007221	hsa-miR-4435	CLIP-seq
MIRT1998444	hsa-miR-4446-5p	CLIP-seq
MIRT1007224	hsa-miR-4478	CLIP-seq
MIRT1998445	hsa-miR-448	CLIP-seq
MIRT1007230	hsa-miR-4649-3p	CLIP-seq
MIRT1998446	hsa-miR-4667-3p	CLIP-seq
MIRT1998447	hsa-miR-4697-3p	CLIP-seq
MIRT1007236	hsa-miR-4701-5p	CLIP-seq
MIRT1998448	hsa-miR-4703-3p	CLIP-seq
MIRT739802	hsa-miR-4716-5p	CLIP-seq
MIRT1007241	hsa-miR-4731-5p	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007244	hsa-miR-4755-3p	CLIP-seq
MIRT1998449	hsa-miR-4755-5p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT1998450	hsa-miR-4804-5p	CLIP-seq
MIRT1007255	hsa-miR-485-5p	CLIP-seq
MIRT1007258	hsa-miR-5095	CLIP-seq
MIRT1998451	hsa-miR-511	CLIP-seq
MIRT1998452	hsa-miR-512-3p	CLIP-seq
MIRT1007262	hsa-miR-519d	CLIP-seq
MIRT1998453	hsa-miR-520a-3p	CLIP-seq
MIRT1998454	hsa-miR-520b	CLIP-seq
MIRT1998455	hsa-miR-520c-3p	CLIP-seq
MIRT1998456	hsa-miR-520d-3p	CLIP-seq
MIRT1998457	hsa-miR-520e	CLIP-seq
MIRT1007263	hsa-miR-520g	CLIP-seq
MIRT1007264	hsa-miR-520h	CLIP-seq
MIRT1007266	hsa-miR-548s	CLIP-seq
MIRT1007268	hsa-miR-588	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1998458	hsa-miR-642a	CLIP-seq
MIRT1007275	hsa-miR-665	CLIP-seq
MIRT1007276	hsa-miR-93	CLIP-seq
MIRT1007147	hsa-miR-122	CLIP-seq
MIRT2388267	hsa-miR-149	CLIP-seq
MIRT1007173	hsa-miR-216a	CLIP-seq
MIRT1007174	hsa-miR-216b	CLIP-seq
MIRT2388268	hsa-miR-3064-5p	CLIP-seq
MIRT1007185	hsa-miR-3135b	CLIP-seq
MIRT1007196	hsa-miR-3652	CLIP-seq
MIRT1007219	hsa-miR-4430	CLIP-seq
MIRT2388269	hsa-miR-4505	CLIP-seq
MIRT1007228	hsa-miR-4643	CLIP-seq
MIRT2388270	hsa-miR-4794	CLIP-seq
MIRT1007146	hsa-miR-1207-5p	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT2449962	hsa-miR-2392	CLIP-seq
MIRT2449963	hsa-miR-3120-5p	CLIP-seq
MIRT1007187	hsa-miR-3149	CLIP-seq
MIRT2449964	hsa-miR-338-5p	CLIP-seq
MIRT1007194	hsa-miR-3613-3p	CLIP-seq
MIRT2449965	hsa-miR-3664-5p	CLIP-seq
MIRT1007203	hsa-miR-371-5p	CLIP-seq
MIRT1007204	hsa-miR-371b-5p	CLIP-seq
MIRT1007212	hsa-miR-411	CLIP-seq
MIRT1007214	hsa-miR-4269	CLIP-seq
MIRT2449966	hsa-miR-4432	CLIP-seq
MIRT1007223	hsa-miR-4455	CLIP-seq
MIRT2449967	hsa-miR-4522	CLIP-seq
MIRT1007233	hsa-miR-4684-5p	CLIP-seq
MIRT2449968	hsa-miR-4691-3p	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007246	hsa-miR-4763-3p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT2449969	hsa-miR-483-5p	CLIP-seq
MIRT1007258	hsa-miR-5095	CLIP-seq
MIRT2449970	hsa-miR-548an	CLIP-seq
MIRT2449971	hsa-miR-552	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT1007187	hsa-miR-3149	CLIP-seq
MIRT1007212	hsa-miR-411	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT2449969	hsa-miR-483-5p	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1007146	hsa-miR-1207-5p	CLIP-seq
MIRT1007147	hsa-miR-122	CLIP-seq
MIRT2535958	hsa-miR-1262	CLIP-seq
MIRT1007155	hsa-miR-1283	CLIP-seq
MIRT1007156	hsa-miR-1285	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT1007160	hsa-miR-1307	CLIP-seq
MIRT2535959	hsa-miR-1976	CLIP-seq
MIRT1007173	hsa-miR-216a	CLIP-seq
MIRT1007174	hsa-miR-216b	CLIP-seq
MIRT2449963	hsa-miR-3120-5p	CLIP-seq
MIRT1007181	hsa-miR-3121-3p	CLIP-seq
MIRT1007182	hsa-miR-3122	CLIP-seq
MIRT1007185	hsa-miR-3135b	CLIP-seq
MIRT1007187	hsa-miR-3149	CLIP-seq
MIRT1007189	hsa-miR-3187-5p	CLIP-seq
MIRT1007193	hsa-miR-3609	CLIP-seq
MIRT1007194	hsa-miR-3613-3p	CLIP-seq
MIRT1007196	hsa-miR-3652	CLIP-seq
MIRT2449965	hsa-miR-3664-5p	CLIP-seq
MIRT1007198	hsa-miR-3675-3p	CLIP-seq
MIRT1007199	hsa-miR-3689a-3p	CLIP-seq
MIRT1007200	hsa-miR-3689c	CLIP-seq
MIRT1007203	hsa-miR-371-5p	CLIP-seq
MIRT1007204	hsa-miR-371b-5p	CLIP-seq
MIRT1007207	hsa-miR-3910	CLIP-seq
MIRT1007208	hsa-miR-3913-5p	CLIP-seq
MIRT1007212	hsa-miR-411	CLIP-seq
MIRT2535960	hsa-miR-4279	CLIP-seq
MIRT1007218	hsa-miR-4421	CLIP-seq
MIRT1007219	hsa-miR-4430	CLIP-seq
MIRT2449966	hsa-miR-4432	CLIP-seq
MIRT1007223	hsa-miR-4455	CLIP-seq
MIRT2535961	hsa-miR-451b	CLIP-seq
MIRT2449967	hsa-miR-4522	CLIP-seq
MIRT1007233	hsa-miR-4684-5p	CLIP-seq
MIRT2449968	hsa-miR-4691-3p	CLIP-seq
MIRT1007234	hsa-miR-4696	CLIP-seq
MIRT2535962	hsa-miR-4701-3p	CLIP-seq
MIRT2535963	hsa-miR-4722-3p	CLIP-seq
MIRT1007239	hsa-miR-4728-5p	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007246	hsa-miR-4763-3p	CLIP-seq
MIRT2535964	hsa-miR-4769-3p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT1007252	hsa-miR-4781-3p	CLIP-seq
MIRT2449969	hsa-miR-483-5p	CLIP-seq
MIRT2535965	hsa-miR-498	CLIP-seq
MIRT2535966	hsa-miR-508-5p	CLIP-seq
MIRT1007258	hsa-miR-5095	CLIP-seq
MIRT1007263	hsa-miR-520g	CLIP-seq
MIRT1007264	hsa-miR-520h	CLIP-seq
MIRT2535967	hsa-miR-542-3p	CLIP-seq
MIRT1007265	hsa-miR-548ah	CLIP-seq
MIRT2449970	hsa-miR-548an	CLIP-seq
MIRT2449971	hsa-miR-552	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1007270	hsa-miR-612	CLIP-seq
MIRT1007273	hsa-miR-661	CLIP-seq
MIRT2535968	hsa-miR-766	CLIP-seq
MIRT1007146	hsa-miR-1207-5p	CLIP-seq
MIRT1007147	hsa-miR-122	CLIP-seq
MIRT1007155	hsa-miR-1283	CLIP-seq
MIRT1007156	hsa-miR-1285	CLIP-seq
MIRT1007159	hsa-miR-129-5p	CLIP-seq
MIRT1007160	hsa-miR-1307	CLIP-seq
MIRT2535959	hsa-miR-1976	CLIP-seq
MIRT1007173	hsa-miR-216a	CLIP-seq
MIRT1007174	hsa-miR-216b	CLIP-seq
MIRT2449963	hsa-miR-3120-5p	CLIP-seq
MIRT1007181	hsa-miR-3121-3p	CLIP-seq
MIRT1007185	hsa-miR-3135b	CLIP-seq
MIRT1007187	hsa-miR-3149	CLIP-seq
MIRT1007189	hsa-miR-3187-5p	CLIP-seq
MIRT1007193	hsa-miR-3609	CLIP-seq
MIRT1007194	hsa-miR-3613-3p	CLIP-seq
MIRT1007196	hsa-miR-3652	CLIP-seq
MIRT2449965	hsa-miR-3664-5p	CLIP-seq
MIRT1007198	hsa-miR-3675-3p	CLIP-seq
MIRT1007203	hsa-miR-371-5p	CLIP-seq
MIRT1007204	hsa-miR-371b-5p	CLIP-seq
MIRT1007207	hsa-miR-3910	CLIP-seq
MIRT1007212	hsa-miR-411	CLIP-seq
MIRT1007214	hsa-miR-4269	CLIP-seq
MIRT2535960	hsa-miR-4279	CLIP-seq
MIRT1007218	hsa-miR-4421	CLIP-seq
MIRT1007219	hsa-miR-4430	CLIP-seq
MIRT2449966	hsa-miR-4432	CLIP-seq
MIRT1007223	hsa-miR-4455	CLIP-seq
MIRT2535961	hsa-miR-451b	CLIP-seq
MIRT2449967	hsa-miR-4522	CLIP-seq
MIRT1007233	hsa-miR-4684-5p	CLIP-seq
MIRT1007234	hsa-miR-4696	CLIP-seq
MIRT2535963	hsa-miR-4722-3p	CLIP-seq
MIRT1007242	hsa-miR-4735-5p	CLIP-seq
MIRT1007246	hsa-miR-4763-3p	CLIP-seq
MIRT2535964	hsa-miR-4769-3p	CLIP-seq
MIRT1007249	hsa-miR-4775	CLIP-seq
MIRT2681238	hsa-miR-4786-5p	CLIP-seq
MIRT2449969	hsa-miR-483-5p	CLIP-seq
MIRT2535965	hsa-miR-498	CLIP-seq
MIRT1007258	hsa-miR-5095	CLIP-seq
MIRT1007263	hsa-miR-520g	CLIP-seq
MIRT1007264	hsa-miR-520h	CLIP-seq
MIRT1007265	hsa-miR-548ah	CLIP-seq
MIRT2449970	hsa-miR-548an	CLIP-seq
MIRT2449971	hsa-miR-552	CLIP-seq
MIRT1007269	hsa-miR-590-3p	CLIP-seq
MIRT1007270	hsa-miR-612	CLIP-seq
MIRT1007273	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SRF	Unknown	20808827

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IDA	15641778
GO:0004322	Function	Ferroxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	15123683, 15961414, 26702583, 31101807, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	17468497, 21298097
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	27519411
GO:0005759	Component	Mitochondrial matrix	IC	29491838
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005759	Component	Mitochondrial matrix	NAS	17285345
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	17468497
GO:0005829	Component	Cytosol	IEA
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006783	Process	Heme biosynthetic process	IDA	15123683
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	18160053
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008047	Function	Enzyme activator activity	IDA	15123683, 28634302, 38627381
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	12785837, 15123683, 17285345, 29576242
GO:0008199	Function	Ferric iron binding	IBA
GO:0008199	Function	Ferric iron binding	IDA	12785837, 18537827
GO:0008199	Function	Ferric iron binding	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0010039	Process	Response to iron ion	IMP	18424449
GO:0016226	Process	Iron-sulfur cluster assembly	IBA
GO:0016226	Process	Iron-sulfur cluster assembly	IDA	12785837
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	NAS	29097656
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016540	Process	Protein autoprocessing	IDA	12785837
GO:0019230	Process	Proprioception	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IEA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	TAS
GO:0034986	Function	Iron chaperone activity	IBA
GO:0034986	Function	Iron chaperone activity	IDA	15123683
GO:0034986	Function	Iron chaperone activity	TAS
GO:0035265	Process	Organ growth	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	16608849
GO:0044571	Process	[2Fe-2S] cluster assembly	IDA	24971490, 29491838, 29576242, 38627381
GO:0044572	Process	[4Fe-4S] cluster assembly	IDA	29576242
GO:0044572	Process	[4Fe-4S] cluster assembly	IEA
GO:0044572	Process	[4Fe-4S] cluster assembly	ISS
GO:0046621	Process	Negative regulation of organ growth	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051349	Process	Positive regulation of lyase activity	IDA	20053667
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IBA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	12785837
GO:0051604	Process	Protein maturation	IMP	15509595
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	15641778
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IMP	16608849
GO:0098771	Process	Inorganic ion homeostasis	IEA
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IDA	21298097, 29491838, 31101807
GO:0099128	Component	Mitochondrial [2Fe-2S] assembly complex	IEA
GO:1990229	Component	Iron-sulfur cluster assembly complex	NAS	29097656

Other IDs

• MIM: 606829
• HGNC: 3951
• e!Ensembl: ENSG00000165060

Protein

• UniProt ID: Q16595
• Protein name: Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: Frataxin intermediate form (i-FXN); Frataxin(56-210) (m56-FXN); Frataxin(78-210) (d-FXN) (m78-FXN); Frataxin mature form (Frataxin(81-210)) (m81-FXN); Extramitochondria
• Protein function: [Frataxin mature form]: Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly (PubMed:12785837, PubMe
• PDB: 1EKG, 1LY7, 3S4M, 3S5D, 3S5E, 3S5F, 3T3J, 3T3K, 3T3L, 3T3T, 3T3X, 5KZ5, 6NZU, 8PK8, 8PK9, 8RME
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01491	Frataxin_Cyay	90 → 198	Frataxin-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO:0000269|PubMed:17468497}.
• Sequence:

  MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
  GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
  EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
  SLHELLAAELTKALKTKLDLSSLAYSGKDA

• Sequence length: 210

Pathways

KEGG:

Porphyrin metabolism

Reactome:

Mitochondrial protein import
Mitochondrial iron-sulfur cluster biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Friedreich ataxia	Pathogenic; Likely pathogenic	rs104894105, rs140987490, rs104894106, rs104894108, rs56214919, rs141935559	RCV000004186 RCV000004187 RCV000004188 RCV000004190 RCV000004191 RCV000004192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich ataxia 1	Likely pathogenic; Pathogenic	rs2133102338, rs193922938, rs104894106, rs104894108, rs143232208, rs2539217018, rs886037630, rs146818694	RCV001726502 RCV001726540 RCV004689408 RCV004017228 RCV003999024 RCV004527184 RCV000029175 RCV000664219	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth-like disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FXN-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	30031876		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	16091420		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	17499976		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17191135, 24613765, 31456211		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	17110750, 19485941, 20001966, 23242090, 33348670, 34747814, 38396238	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	14653406, 15279807, 16700949, 19440741, 21496573, 2722185, 9708552		★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	26068213, 29891058, 7726167, 8602747, 9463307		★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	17572444, 17917453, 30599859		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	11844730, 11960886, 16500684, 16644517, 18267270, 18725397, 20393313, 24840976, 28716278, 29440566, 29891061, 30786918, 31838195, 9339708, 9429138, 9758299		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	25765228, 29509186, 30786918, 31494282, 31575456, 7231446		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	26589002		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	26589002		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	2722185		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21863062		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	9002550		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31074541	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29447225	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19679182	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10900192, 11121484, 16608849, 19485941, 20001966, 31446150, 38396238	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11121484, 16510442, 17826840, 18725397, 19376812, 20001966, 24705334, 28701783, 28724806, 29511832, 30333728, 31446150, 3209055, 9339708, 9463307, 9922348		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	31446150, 34923139	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11269509, 25322695		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	11857753, 8807151		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	LHGDN	11857753		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	9577387		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30473193		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	29891061, 29903450		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	14521474		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	BEFREE	11419690		★☆☆☆☆ Found in Text Mining only
Cervical spinal cord atrophy	Cervical spinal cord atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	31673878, 4364274, 949237		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	17499976		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	32989015	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16263703		★☆☆☆☆ Found in Text Mining only
Complicated hereditary spastic paraplegia	Spastic paraplegia	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	427531		★☆☆☆☆ Found in Text Mining only
Congenital atransferrinemia	Congenital Atransferrinemia	BEFREE	11419690		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	11860984		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22141280		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26717909		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28542596, 31162883		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25322695, 26717909		★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	BEFREE	21779322, 29563863		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	40141365	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	17499976, 19679182	Associate	★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	15691283, 31422002, 9002550		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10102715, 10969848, 17826840, 20053667, 28904984, 29891071, 30656194, 31343823, 3209055		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10102715, 10969848, 17826840, 20053667, 26704351, 28904984, 29891071, 30656194, 31343823, 3209055		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	10900192, 16608849, 24375160, 38396238	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	11862710		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10102712, 10102715, 15827563, 22399236, 31343823, 9588463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	Pubtator	22764244	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	9989622		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	16753177, 16793772		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31697708		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33794814	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	24375160	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	32989015	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	9779809		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	9779809		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	10428860	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	24787137, 27771483, 29113982, 9002550, 9217976		★☆☆☆☆ Found in Text Mining only
FRAXA Syndrome	Fragile X syndrome	BEFREE	9217976		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	10230399, 10332043, 10347715, 10411345, 10464657, 10563639, 10633128, 10668723, 10681084, 10732799, 10751248, 10766903, 10767347, 10869006, 10899450, 10903947, 10908340, 10930361, 10969848, 10982543, 11030410, 11030757, 11054139, 11071107, 11121484, 11167127, 11183775, 11240567, 11269509, 11351269, 11428460, 11523563, 11590127, 11809170, 11810294, 11843702, 11852181, 11857753, 11986241, 12076669, 12140189, 12174969, 12354077, 12516053, 12837693, 12849398, 14550925, 14653404, 14741370, 14767759, 14962663, 14978261, 15096564, 15105272, 15178220, 15201375, 15282205, 15340363, 15354399, 15475256, 15507666, 15827563, 16076253, 16091420, 16442805, 16510442, 16581313, 16644517, 16787388, 16857735, 16919418, 16921367, 17024371, 17075779, 17110750, 17112370, 17235301, 17331979, 17375064, 17468497, 17478498, 17498922, 17703324, 17826341, 18045775, 18206656, 18319250, 18424449, 18464277, 18485778, 18537827, 18562474, 18581197, 18597733, 18697824, 18716706, 18725397, 18775729, 18807169, 18815198, 18820300, 18931386, 19043662, 19104905, 19165552, 19177134, 19268652, 19283345, 19283346, 19376812, 1968638, 19748629, 19805308, 19884169, 19956589, 20001966, 20053667, 20090835, 20098685, 20109528, 20141512, 20374234, 20393313, 20413654, 20460268, 20808827, 20819074, 20889968, 20970754, 21040903, 21127046, 21147271, 21216878, 21315377, 21486239, 21531789, 21570254, 21687738, 21745819, 21771600, 21776984, 21779322, 21830088, 21985033, 22016819, 22113996, 22162061, 22262734, 22274609, 22382366, 22394676, 22409940, 22447512, 22522441, 22587705, 22691228, 22706278, 22750988, 22764179, 22764181, 22764244, 22791549, 22798143, 22832776, 22917739, 23082224, 23196337, 23247094, 23269675, 23280845, 23334592, 23350650, 23382970, 23418481, 23463383, 23574943, 23587934, 23691127, 2378348, 23859343, 23879205, 23886890, 23936609, 23943791, 24011957, 24023969, 24175286, 24194977, 24327207, 24411698, 24463479, 24586819, 24691413, 24705504, 24737321, 24751525, 24779923, 24794816, 24816001, 24920569, 24971578, 25104852, 25112975, 25113747, 25549872, 25554687, 25616511, 25681319, 25758173, 25845763, 25929520, 25948553, 26027909, 26035392, 26059974, 26068213, 26158631, 26321457, 26379101, 26393353, 26625322, 26704351, 26883577, 27002638, 27079523, 27425605, 27433942, 27516386, 27518705, 27575947, 27846236, 28024081, 28109580, 28228265, 28229372, 28286293, 28412459, 28444186, 28456899, 28474131, 28504123, 28556242, 28782591, 28789479, 28852135, 28904984, 28980774, 29044418, 29044877, 29057804, 29070698, 29125827, 29125828, 29192133, 29200434, 29223733, 29257745, 29261783, 29272104, 29325032, 29329987, 29341839, 29447225, 29509186, 29568068, 29773347, 29794127, 29853274, 29898895, 29938355, 30076049, 30195758, 30233871, 30288223, 30294800, 30358880, 30464193, 30544254, 30552117, 30590615, 30624801, 30786918, 30874991, 30905359, 31049138, 31101807, 31151992, 31158268, 31166002, 31311349, 31665133, 31693434, 31838195, 8057123, 8641704, 8751856, 8807151, 9259271, 9270608, 9331900, 9339708, 9384553, 9448568, 949237, 9527151, 9539351, 9553847, 9577387, 9700204, 9714816, 9733027, 9735950, 9737785, 9779809, 9811933, 9925783, 9928824, 9949201		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich Ataxia	Friedreich Ataxia	CLINGEN_DG	11030757, 11175786, 11714098, 21531789, 8596916, 8841185, 9266741		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich Ataxia	Friedreich Ataxia	LHGDN	11823441, 11857753, 12354077, 14962663, 15534367, 16857735, 17262846, 18597733, 18697824		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich Ataxia	Friedreich Ataxia	CTD_human_DG	12923074, 16120311, 16239244, 16911956, 17101455, 20098685, 22016819, 23418481, 29272104, 30451920		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich Ataxia	Friedreich Ataxia	ORPHANET_DG	21776984		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich ataxia	Friedreich Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Friedreich Ataxia	Friedreich Ataxia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	10077729, 10332043, 10500204, 10607838, 10732799, 10930361, 11030757, 11121484, 11183775, 11240567, 11586299, 11590127, 11810294, 12069111, 12076669, 12112211, 12354077, 12417527, 12933917, 14550925, 15180699, 15201375, 15507666, 15827563, 15896810, 16076253, 16149098, 16442805, 16644517, 16677089, 16793772, 16857735, 16919418, 17024371, 17110750, 17331979, 17468497, 17478498, 17498922, 17703324, 17826840, 18045775, 18058631, 18697824, 18725397, 18807169, 18820300, 19165552, 19283346, 19376812, 19440741, 19748629, 19956589, 20001966, 20053667, 20098685, 20225031, 20373285, 20374234, 20413654, 20460268, 20889968, 21040903, 21127046, 21147271, 21216878, 21315377, 21412413, 21531789, 21550666, 21570254, 21687738, 21734495, 21745819, 21771600, 21776984, 21830088, 22016819, 22113996, 22141280, 22162061, 22262734, 22382366, 22394676, 22447512, 22587705, 22691228, 22736457, 22750988, 22764244, 22798143, 22917739, 23082224, 23136396, 23382970, 23418481, 23574943, 23859343, 23879205, 23943791, 24011957, 24023969, 24105471, 24175286, 24194977, 24209901, 24327207, 24411698, 24463479, 24586819, 24691413, 24705334, 24705504, 24737321, 24751525, 24779923, 24787137, 24816001, 24920569, 24962209, 24971578, 25104852, 25112975, 25322695, 25552656, 25662948, 25681319, 25758173, 25765228, 25845763, 25929520, 25948553, 26035392, 26149656, 26158631, 26170003, 26286937, 26321457, 26625322, 26704351, 27002638, 27019046, 27079523, 27206881, 27425605, 27488863, 27518705, 27615158, 28109580, 28228265, 28229372, 28412459, 28444186, 28451558, 28562313, 28716278, 28724340, 28838288, 28912677, 28927904, 29070698, 29125827, 29125828, 29197070, 29259026, 29261783, 29325032, 29329987, 29563863, 29568068, 29744501, 29773347, 29850527, 29938355, 30065630, 30076049, 30195758, 30237783, 30288223, 30333728, 30425621, 30464193, 30552117, 30590615, 30596685, 30635474, 30761510, 30778428, 30833885, 30874991, 30905359, 31031004, 31101807, 31105516, 31151992, 31176929, 31197032, 31206761, 31243663, 31279523, 31286988, 31311349, 31317428, 31441004, 31456211, 31511419, 31564022, 31575456, 31584077, 31640150, 31650522, 31673878, 31680804, 31701351, 31721791, 9270608, 9326946, 9331900, 9486868, 9700204, 9779809, 9925783, 9949201		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRIEDREICH ATAXIA 1	Friedreich Ataxia	UNIPROT_DG	10732799, 10874325, 19629184, 9150176, 9779809, 9989622		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRIEDREICH ATAXIA 1	Friedreich Ataxia	GENOMICS_ENGLAND_DG	11351132, 19268652, 21830088, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRIEDREICH ATAXIA 1	Friedreich Ataxia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FRIEDREICH ATAXIA 1	Friedreich Ataxia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma	Glioma	BEFREE	21863062		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	36635061	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17826840, 31166002		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28542596, 31162883		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	24816001		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	24816001		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	25765228		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	23609960		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	11579422, 12933917		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10774476, 11419690		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	22764244	Inhibit	★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	22706278, 28573291		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12793304, 16444016, 17191135, 18039028, 29228015, 29625173, 9002550, 9392008		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	21266802		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8807151		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	34060487	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	8807151		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11269509, 14711353, 15936968, 24327207, 25322695, 30635474, 8807151		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11269509, 14711353, 15936968, 24327207, 30635474		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	12196655		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21368894	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29596470	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31641877		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	30535072		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	10332043, 10774476, 11419690, 12140189, 15282205, 18424449, 19748629, 20413654, 24327207, 28770399, 30778428, 30833885, 31162883		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	18424449	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	14528057		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	11269509, 8807151		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30693015		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24726617		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29447225		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	20819074, 29447225		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	10411345, 23609960, 30870851, 31004074, 9002550		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16263703, 20819074, 22736457, 27231104, 27771483, 8168076		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16263703		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	14711353, 24719489		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29329987	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	11907009	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	24705504	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	11850115, 12069111, 12793304, 12849398, 21863062, 27965395, 29530802, 31770591, 9326946		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15615730, 16677095, 23146029, 31584077, 35413853, 38062036, 9443873	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	16608849, 21147271, 36107856	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	12174969		★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	21266802		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	31456211		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	30442292		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18682748		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12174969, 22262734		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	14711353, 29428949, 9002550, 9466918, 9852676		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16263703, 20819074, 21368894, 21863062, 22736457		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35335316	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	14521474, 17191135, 17596984, 18952194, 25758173, 27881490, 30624809, 31105516		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19104905, 20398431, 21531789		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	23545052		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	11121484, 12928720, 16787388, 17499976, 19679182, 22352884, 23909240, 25333765, 29192133, 30636112, 30975898, 31074541, 31209948, 31511419, 31848436, 33348670, 37606107	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10332043, 10930361, 11428460, 11586299, 12076669, 12140189, 12417527, 12516053, 15507666, 15827563, 16091420, 16787388, 16911956, 16921367, 17331979, 17508392, 18485778, 18562474, 18581197, 18725397, 18807169, 18952194, 19043662, 19104905, 19165552, 19884169, 20090835, 20413654, 20808827, 20819074, 21040903, 21776984, 21799823, 22155640, 23082224, 23146029, 23574943, 24327207, 24463479, 24691413, 26149656, 27615158, 27809706, 28109580, 28228265, 28412459, 28504123, 29070698, 29097312, 29197070, 29200434, 29576242, 29744501, 29773347, 29794127, 30065630, 30076049, 30288223, 30333728, 30544254, 30590615, 30636112, 30693015, 30761510, 30778428, 30786918, 30874991, 30975898, 31074541, 31101807, 31158268, 31209948, 31344531, 31441004, 31511419, 31575456, 31586352, 31665133, 31680804, 31697708, 9217976, 9463307, 9949201		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	18597733		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	31471929		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	11419690, 28904984, 3209055		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29853274		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	17499976		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	17499976	Associate	★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	10411345, 9686785		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	38396238	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	11850115, 12933917		★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	11850115, 19268652		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22752483	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	34747814	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12140659, 22809528		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	19104905		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	19440741, 30761510, 8602747		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	19440741, 30761510, 8602747		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	15691283, 20001966, 26906906		★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	3209055		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	21799823, 949237		★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	BEFREE	949237		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	2022716		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	17826840, 26906906		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	30233871		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	14705117, 29853274		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	16797509, 29784770		★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	32775015	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	8870928		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 7	Spastic Paraplegia	BEFREE	23033504		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	10856939, 11423010, 12933917, 23033504, 25765228		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	15727131, 22723857		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	20393313, 9002550		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	17112370, 23609960, 24418350, 30389370		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Degeneration	Spinocerebellar Degeneration	BEFREE	225694, 903776, 9758299		★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	BEFREE	9758299		★☆☆☆☆ Found in Text Mining only
Ventricular septal hypertrophy	Ventricular Septal Hypertrophy	BEFREE	11269509		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	25322695		★☆☆☆☆ Found in Text Mining only
Vitamin E Deficiency	Vitamin E Deficiency	BEFREE	8602747		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	17499976		★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	10774476		★☆☆☆☆ Found in Text Mining only