MFN2 (mitofusin 2)

Gene

• Entrez ID: 9927
• Gene name: Mitofusin 2
• Gene symbol: MFN2
• Synonyms (NCBI Gene): CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell prolifera

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940291	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28940292	G>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28940293	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28940294	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28940295	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28940296	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs41278630	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs111723244	T>A,C	Uncertain-significance, pathogenic	Splice donor variant
rs119103261	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs119103262	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs119103263	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs119103264	A>G	Pathogenic	Missense variant, coding sequence variant
rs119103265	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs119103266	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs119103267	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs119103268	C>T	Pathogenic	Missense variant, coding sequence variant
rs137960129	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Synonymous variant, missense variant, coding sequence variant
rs138382758	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs140234726	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140924661	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs141468012	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs144860227	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs147136530	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs148441213	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs369140232	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs369762154	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373340717	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs387906990	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387906991	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs564375950	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587777875	C>T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs755065651	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs757937208	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs759844257	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763492075	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs764374251	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs773159585	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794727035	C>T	Pathogenic	Missense variant, coding sequence variant
rs794729198	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224064	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224065	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224066	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863224068	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224069	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224967	A>C,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224968	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs863224969	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863224970	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864622480	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs879253777	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs879253861	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs879253862	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs879253925	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879253939	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs879253957	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs879254010	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs879254011	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254210	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs879254288	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057517987	C>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1060501915	TGGTGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501917	T>G	Pathogenic	Missense variant, coding sequence variant
rs1060501925	G>C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793170	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794315	G>T	Pathogenic	Missense variant, coding sequence variant
rs1064794316	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795818	C>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1266361856	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1443036026	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1458700065	T>A,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1478175861	AGA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs1553141017	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553142428	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553143791	->GCA	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion
rs1553143890	G>T	Likely-pathogenic	Splice donor variant
rs1553144086	G>A	Likely-pathogenic	Splice donor variant
rs1553145402	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557515730	A>G	Likely-pathogenic	Missense variant, initiator codon variant
rs1557522794	A>G	Likely-pathogenic	Splice acceptor variant
rs1557522849	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1557524703	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1557525005	T>A,C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1557525153	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1557537346	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1557539119	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1569816262	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1569842296	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1569861708	G>A	Pathogenic	Splice donor variant
rs1569862384	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569865516	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569871830	C>G	Pathogenic	Stop gained, coding sequence variant
rs1569882539	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023877	hsa-miR-1-3p	Proteomics	18668040
MIRT031906	hsa-miR-16-5p	Proteomics	18668040
MIRT049714	hsa-miR-92a-3p	CLASH	23622248
MIRT048771	hsa-miR-93-5p	CLASH	23622248
MIRT047398	hsa-miR-34a-5p	CLASH	23622248
MIRT047398	hsa-miR-34a-5p	CLASH	23622248
MIRT046976	hsa-miR-221-3p	CLASH	23622248
MIRT044188	hsa-miR-99b-5p	CLASH	23622248
MIRT041972	hsa-miR-484	CLASH	23622248
MIRT041312	hsa-miR-193b-3p	CLASH	23622248
MIRT052698	hsa-miR-1260b	CLASH	23622248
MIRT052861	hsa-miR-3619-5p	CLASH	23622248
MIRT438678	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23954742
MIRT438678	hsa-miR-106b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23954742
MIRT512557	hsa-miR-483-3p	PAR-CLIP	20371350
MIRT512557	hsa-miR-483-3p	PAR-CLIP	20371350
MIRT512556	hsa-miR-4301	PAR-CLIP	20371350
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT512552	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT512551	hsa-miR-3921	PAR-CLIP	20371350
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	20371350
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	20371350
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	20371350
MIRT512547	hsa-miR-610	PAR-CLIP	20371350
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT535964	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT535963	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT512544	hsa-miR-4303	PAR-CLIP	20371350
MIRT512557	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT512557	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT512556	hsa-miR-4301	PAR-CLIP	22012620
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	22012620
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	22012620
MIRT512552	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT512551	hsa-miR-3921	PAR-CLIP	22012620
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT512547	hsa-miR-610	PAR-CLIP	22012620
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	22012620
MIRT535964	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT535963	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT512544	hsa-miR-4303	PAR-CLIP	22012620
MIRT512557	hsa-miR-483-3p	PAR-CLIP	23446348
MIRT512557	hsa-miR-483-3p	PAR-CLIP	23446348
MIRT512556	hsa-miR-4301	PAR-CLIP	23446348
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	23446348
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	23446348
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	23446348
MIRT512552	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT512551	hsa-miR-3921	PAR-CLIP	23446348
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	23446348
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	23446348
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	23446348
MIRT512547	hsa-miR-610	PAR-CLIP	23446348
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	23446348
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	23446348
MIRT512544	hsa-miR-4303	PAR-CLIP	23446348
MIRT440249	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440249	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT332467	hsa-miR-195-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	27693395
MIRT732390	hsa-miR-106a-5p	Luciferase reporter assay, Western blot	27565029
MIRT732390	hsa-miR-106a-5p	Luciferase reporter assay, Western blot	27565029
MIRT512557	hsa-miR-483-3p	PAR-CLIP	20371350
MIRT512557	hsa-miR-483-3p	PAR-CLIP	20371350
MIRT512556	hsa-miR-4301	PAR-CLIP	20371350
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	20371350
MIRT512552	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT512551	hsa-miR-3921	PAR-CLIP	20371350
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	20371350
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	20371350
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	20371350
MIRT512547	hsa-miR-610	PAR-CLIP	20371350
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT535964	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT535963	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT512544	hsa-miR-4303	PAR-CLIP	20371350
MIRT512557	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT512557	hsa-miR-483-3p	PAR-CLIP	22012620
MIRT512556	hsa-miR-4301	PAR-CLIP	22012620
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	22012620
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	22012620
MIRT512552	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT512551	hsa-miR-3921	PAR-CLIP	22012620
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	22012620
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT512547	hsa-miR-610	PAR-CLIP	22012620
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	22012620
MIRT535964	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT535963	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT512544	hsa-miR-4303	PAR-CLIP	22012620
MIRT512557	hsa-miR-483-3p	PAR-CLIP	23446348
MIRT512557	hsa-miR-483-3p	PAR-CLIP	23446348
MIRT512556	hsa-miR-4301	PAR-CLIP	23446348
MIRT512555	hsa-miR-6887-3p	PAR-CLIP	23446348
MIRT512554	hsa-miR-6795-3p	PAR-CLIP	23446348
MIRT512553	hsa-miR-2276-5p	PAR-CLIP	23446348
MIRT512552	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT512551	hsa-miR-3921	PAR-CLIP	23446348
MIRT512550	hsa-miR-4653-5p	PAR-CLIP	23446348
MIRT512549	hsa-miR-1199-5p	PAR-CLIP	23446348
MIRT512548	hsa-miR-6751-3p	PAR-CLIP	23446348
MIRT512547	hsa-miR-610	PAR-CLIP	23446348
MIRT512546	hsa-miR-3156-3p	PAR-CLIP	23446348
MIRT512545	hsa-miR-6826-3p	PAR-CLIP	23446348
MIRT512544	hsa-miR-4303	PAR-CLIP	23446348
MIRT1146248	hsa-miR-2276	CLIP-seq
MIRT1146249	hsa-miR-3173-3p	CLIP-seq
MIRT1146250	hsa-miR-3616-3p	CLIP-seq
MIRT1146251	hsa-miR-3665	CLIP-seq
MIRT1146252	hsa-miR-4436b-3p	CLIP-seq
MIRT1146253	hsa-miR-4438	CLIP-seq
MIRT1146254	hsa-miR-4708-3p	CLIP-seq
MIRT1146255	hsa-miR-4736	CLIP-seq
MIRT1146256	hsa-miR-4779	CLIP-seq
MIRT1146257	hsa-miR-591	CLIP-seq
MIRT1146258	hsa-miR-764	CLIP-seq
MIRT1146259	hsa-miR-933	CLIP-seq
MIRT1146260	hsa-miR-106a	CLIP-seq
MIRT1146261	hsa-miR-106b	CLIP-seq
MIRT1146262	hsa-miR-1182	CLIP-seq
MIRT1146263	hsa-miR-1208	CLIP-seq
MIRT1146264	hsa-miR-1238	CLIP-seq
MIRT1146265	hsa-miR-148a	CLIP-seq
MIRT1146266	hsa-miR-148b	CLIP-seq
MIRT1146267	hsa-miR-152	CLIP-seq
MIRT1146268	hsa-miR-17	CLIP-seq
MIRT1146269	hsa-miR-20a	CLIP-seq
MIRT1146270	hsa-miR-20b	CLIP-seq
MIRT1146271	hsa-miR-302a	CLIP-seq
MIRT1146272	hsa-miR-302b	CLIP-seq
MIRT1146273	hsa-miR-302c	CLIP-seq
MIRT1146274	hsa-miR-302d	CLIP-seq
MIRT1146275	hsa-miR-302e	CLIP-seq
MIRT1146276	hsa-miR-3140-3p	CLIP-seq
MIRT1146277	hsa-miR-3187-3p	CLIP-seq
MIRT1146278	hsa-miR-323b-3p	CLIP-seq
MIRT1146279	hsa-miR-3609	CLIP-seq
MIRT1146280	hsa-miR-3622a-3p	CLIP-seq
MIRT1146281	hsa-miR-3622b-3p	CLIP-seq
MIRT1146282	hsa-miR-3680	CLIP-seq
MIRT1146283	hsa-miR-3682-5p	CLIP-seq
MIRT1146284	hsa-miR-372	CLIP-seq
MIRT1146285	hsa-miR-373	CLIP-seq
MIRT1146286	hsa-miR-3919	CLIP-seq
MIRT1146287	hsa-miR-3942-3p	CLIP-seq
MIRT1146288	hsa-miR-3975	CLIP-seq
MIRT1146289	hsa-miR-4287	CLIP-seq
MIRT1146290	hsa-miR-4433	CLIP-seq
MIRT1146291	hsa-miR-4435	CLIP-seq
MIRT1146292	hsa-miR-4464	CLIP-seq
MIRT1146293	hsa-miR-4469	CLIP-seq
MIRT1146294	hsa-miR-4529-5p	CLIP-seq
MIRT1146295	hsa-miR-4679	CLIP-seq
MIRT1146296	hsa-miR-4685-3p	CLIP-seq
MIRT1146297	hsa-miR-4700-3p	CLIP-seq
MIRT1146298	hsa-miR-4701-5p	CLIP-seq
MIRT1146299	hsa-miR-4748	CLIP-seq
MIRT1146300	hsa-miR-4756-3p	CLIP-seq
MIRT1146301	hsa-miR-4766-5p	CLIP-seq
MIRT1146302	hsa-miR-4796-3p	CLIP-seq
MIRT1146303	hsa-miR-499-3p	CLIP-seq
MIRT1146304	hsa-miR-499a-3p	CLIP-seq
MIRT1146305	hsa-miR-513a-3p	CLIP-seq
MIRT1146306	hsa-miR-519d	CLIP-seq
MIRT1146307	hsa-miR-520a-3p	CLIP-seq
MIRT1146308	hsa-miR-520b	CLIP-seq
MIRT1146309	hsa-miR-520c-3p	CLIP-seq
MIRT1146310	hsa-miR-520d-3p	CLIP-seq
MIRT1146311	hsa-miR-520e	CLIP-seq
MIRT1146312	hsa-miR-520f	CLIP-seq
MIRT1146313	hsa-miR-548ah	CLIP-seq
MIRT1146314	hsa-miR-548s	CLIP-seq
MIRT1146315	hsa-miR-588	CLIP-seq
MIRT1146316	hsa-miR-663b	CLIP-seq
MIRT1146317	hsa-miR-93	CLIP-seq
MIRT2041580	hsa-miR-103a	CLIP-seq
MIRT2041581	hsa-miR-107	CLIP-seq
MIRT2041582	hsa-miR-1197	CLIP-seq
MIRT2041583	hsa-miR-1200	CLIP-seq
MIRT2041584	hsa-miR-1202	CLIP-seq
MIRT2041585	hsa-miR-1205	CLIP-seq
MIRT2041586	hsa-miR-1253	CLIP-seq
MIRT2041587	hsa-miR-1256	CLIP-seq
MIRT2041588	hsa-miR-1275	CLIP-seq
MIRT2041589	hsa-miR-1302	CLIP-seq
MIRT2041590	hsa-miR-1321	CLIP-seq
MIRT2041591	hsa-miR-134	CLIP-seq
MIRT2041592	hsa-miR-147	CLIP-seq
MIRT2041593	hsa-miR-1470	CLIP-seq
MIRT2041594	hsa-miR-1587	CLIP-seq
MIRT2041595	hsa-miR-15a	CLIP-seq
MIRT2041596	hsa-miR-15b	CLIP-seq
MIRT2041597	hsa-miR-16	CLIP-seq
MIRT2041598	hsa-miR-1827	CLIP-seq
MIRT2041599	hsa-miR-1915	CLIP-seq
MIRT2041600	hsa-miR-195	CLIP-seq
MIRT2041601	hsa-miR-19a	CLIP-seq
MIRT2041602	hsa-miR-19b	CLIP-seq
MIRT2041603	hsa-miR-2114	CLIP-seq
MIRT2041604	hsa-miR-2115	CLIP-seq
MIRT2041605	hsa-miR-214	CLIP-seq
MIRT2041606	hsa-miR-219-2-3p	CLIP-seq
MIRT2041607	hsa-miR-22	CLIP-seq
MIRT1146248	hsa-miR-2276	CLIP-seq
MIRT2041608	hsa-miR-3117-5p	CLIP-seq
MIRT2041609	hsa-miR-3118	CLIP-seq
MIRT2041610	hsa-miR-3122	CLIP-seq
MIRT1146276	hsa-miR-3140-3p	CLIP-seq
MIRT2041611	hsa-miR-3169	CLIP-seq
MIRT1146249	hsa-miR-3173-3p	CLIP-seq
MIRT2041612	hsa-miR-3194-3p	CLIP-seq
MIRT2041613	hsa-miR-3194-5p	CLIP-seq
MIRT1146278	hsa-miR-323b-3p	CLIP-seq
MIRT2041614	hsa-miR-342-5p	CLIP-seq
MIRT2041615	hsa-miR-3614-5p	CLIP-seq
MIRT1146251	hsa-miR-3665	CLIP-seq
MIRT2041616	hsa-miR-3673	CLIP-seq
MIRT2041617	hsa-miR-3689a-3p	CLIP-seq
MIRT2041618	hsa-miR-3689c	CLIP-seq
MIRT2041619	hsa-miR-378g	CLIP-seq
MIRT2041620	hsa-miR-3908	CLIP-seq
MIRT2041621	hsa-miR-3913-5p	CLIP-seq
MIRT2041622	hsa-miR-3934	CLIP-seq
MIRT2041623	hsa-miR-3972	CLIP-seq
MIRT2041624	hsa-miR-3978	CLIP-seq
MIRT2041625	hsa-miR-424	CLIP-seq
MIRT2041626	hsa-miR-4261	CLIP-seq
MIRT2041627	hsa-miR-4267	CLIP-seq
MIRT2041628	hsa-miR-4270	CLIP-seq
MIRT2041629	hsa-miR-4289	CLIP-seq
MIRT2041630	hsa-miR-4290	CLIP-seq
MIRT2041631	hsa-miR-4291	CLIP-seq
MIRT2041632	hsa-miR-4298	CLIP-seq
MIRT2041633	hsa-miR-4310	CLIP-seq
MIRT2041634	hsa-miR-4324	CLIP-seq
MIRT2041635	hsa-miR-4422	CLIP-seq
MIRT2041636	hsa-miR-4426	CLIP-seq
MIRT1146291	hsa-miR-4435	CLIP-seq
MIRT2041637	hsa-miR-4441	CLIP-seq
MIRT2041638	hsa-miR-4447	CLIP-seq
MIRT2041639	hsa-miR-4472	CLIP-seq
MIRT2041640	hsa-miR-4476	CLIP-seq
MIRT2041641	hsa-miR-4492	CLIP-seq
MIRT2041642	hsa-miR-4498	CLIP-seq
MIRT2041643	hsa-miR-4504	CLIP-seq
MIRT2041644	hsa-miR-4513	CLIP-seq
MIRT2041645	hsa-miR-4540	CLIP-seq
MIRT2041646	hsa-miR-4645-3p	CLIP-seq
MIRT2041647	hsa-miR-4646-3p	CLIP-seq
MIRT2041648	hsa-miR-4647	CLIP-seq
MIRT2041649	hsa-miR-4651	CLIP-seq
MIRT2041650	hsa-miR-4656	CLIP-seq
MIRT2041651	hsa-miR-4662b	CLIP-seq
MIRT2041652	hsa-miR-4663	CLIP-seq
MIRT2041653	hsa-miR-4664-5p	CLIP-seq
MIRT2041654	hsa-miR-4665-5p	CLIP-seq
MIRT2041655	hsa-miR-4667-3p	CLIP-seq
MIRT2041656	hsa-miR-4668-3p	CLIP-seq
MIRT2041657	hsa-miR-4675	CLIP-seq
MIRT2041658	hsa-miR-4683	CLIP-seq
MIRT2041659	hsa-miR-4685-5p	CLIP-seq
MIRT2041660	hsa-miR-4687-5p	CLIP-seq
MIRT1146297	hsa-miR-4700-3p	CLIP-seq
MIRT1146254	hsa-miR-4708-3p	CLIP-seq
MIRT2041661	hsa-miR-4715-3p	CLIP-seq
MIRT2041662	hsa-miR-4727-5p	CLIP-seq
MIRT2041663	hsa-miR-4728-3p	CLIP-seq
MIRT2041664	hsa-miR-4728-5p	CLIP-seq
MIRT2041665	hsa-miR-4731-5p	CLIP-seq
MIRT2041666	hsa-miR-4739	CLIP-seq
MIRT2041667	hsa-miR-4740-5p	CLIP-seq
MIRT2041668	hsa-miR-4741	CLIP-seq
MIRT2041669	hsa-miR-4756-5p	CLIP-seq
MIRT2041670	hsa-miR-4769-3p	CLIP-seq
MIRT2041671	hsa-miR-4772-3p	CLIP-seq
MIRT2041672	hsa-miR-4772-5p	CLIP-seq
MIRT2041673	hsa-miR-494	CLIP-seq
MIRT2041674	hsa-miR-497	CLIP-seq
MIRT2041675	hsa-miR-501-5p	CLIP-seq
MIRT1146312	hsa-miR-520f	CLIP-seq
MIRT2041676	hsa-miR-542-3p	CLIP-seq
MIRT2041677	hsa-miR-544b	CLIP-seq
MIRT2041678	hsa-miR-548ac	CLIP-seq
MIRT2041679	hsa-miR-548ae	CLIP-seq
MIRT2041680	hsa-miR-548aj	CLIP-seq
MIRT2041681	hsa-miR-548am	CLIP-seq
MIRT2041682	hsa-miR-548d-3p	CLIP-seq
MIRT2041683	hsa-miR-548x	CLIP-seq
MIRT2041684	hsa-miR-548z	CLIP-seq
MIRT2041685	hsa-miR-556-5p	CLIP-seq
MIRT2041686	hsa-miR-593	CLIP-seq
MIRT2041687	hsa-miR-608	CLIP-seq
MIRT2041688	hsa-miR-624	CLIP-seq
MIRT2041689	hsa-miR-656	CLIP-seq
MIRT2041690	hsa-miR-657	CLIP-seq
MIRT2041691	hsa-miR-760	CLIP-seq
MIRT2041692	hsa-miR-762	CLIP-seq
MIRT2041693	hsa-miR-766	CLIP-seq
MIRT2041694	hsa-miR-922	CLIP-seq
MIRT2041580	hsa-miR-103a	CLIP-seq
MIRT2041581	hsa-miR-107	CLIP-seq
MIRT2041582	hsa-miR-1197	CLIP-seq
MIRT2041584	hsa-miR-1202	CLIP-seq
MIRT2041586	hsa-miR-1253	CLIP-seq
MIRT2041591	hsa-miR-134	CLIP-seq
MIRT2041593	hsa-miR-1470	CLIP-seq
MIRT2041595	hsa-miR-15a	CLIP-seq
MIRT2041596	hsa-miR-15b	CLIP-seq
MIRT2041597	hsa-miR-16	CLIP-seq
MIRT2041600	hsa-miR-195	CLIP-seq
MIRT2041603	hsa-miR-2114	CLIP-seq
MIRT2041605	hsa-miR-214	CLIP-seq
MIRT2041608	hsa-miR-3117-5p	CLIP-seq
MIRT2041609	hsa-miR-3118	CLIP-seq
MIRT2041612	hsa-miR-3194-3p	CLIP-seq
MIRT2041613	hsa-miR-3194-5p	CLIP-seq
MIRT2041623	hsa-miR-3972	CLIP-seq
MIRT2041625	hsa-miR-424	CLIP-seq
MIRT2041627	hsa-miR-4267	CLIP-seq
MIRT2041630	hsa-miR-4290	CLIP-seq
MIRT2041631	hsa-miR-4291	CLIP-seq
MIRT2041633	hsa-miR-4310	CLIP-seq
MIRT2041635	hsa-miR-4422	CLIP-seq
MIRT2041647	hsa-miR-4646-3p	CLIP-seq
MIRT2041655	hsa-miR-4667-3p	CLIP-seq
MIRT2041660	hsa-miR-4687-5p	CLIP-seq
MIRT2041661	hsa-miR-4715-3p	CLIP-seq
MIRT2041662	hsa-miR-4727-5p	CLIP-seq
MIRT2041670	hsa-miR-4769-3p	CLIP-seq
MIRT2041674	hsa-miR-497	CLIP-seq
MIRT2271196	hsa-miR-548u	CLIP-seq
MIRT2041693	hsa-miR-766	CLIP-seq
MIRT2041694	hsa-miR-922	CLIP-seq
MIRT2041605	hsa-miR-214	CLIP-seq
MIRT2271197	hsa-miR-3148	CLIP-seq
MIRT2041620	hsa-miR-3908	CLIP-seq
MIRT2041582	hsa-miR-1197	CLIP-seq
MIRT2041584	hsa-miR-1202	CLIP-seq
MIRT2041586	hsa-miR-1253	CLIP-seq
MIRT2041593	hsa-miR-1470	CLIP-seq
MIRT2041603	hsa-miR-2114	CLIP-seq
MIRT2041608	hsa-miR-3117-5p	CLIP-seq
MIRT2041611	hsa-miR-3169	CLIP-seq
MIRT2041612	hsa-miR-3194-3p	CLIP-seq
MIRT2041613	hsa-miR-3194-5p	CLIP-seq
MIRT2041623	hsa-miR-3972	CLIP-seq
MIRT2041627	hsa-miR-4267	CLIP-seq
MIRT2041635	hsa-miR-4422	CLIP-seq
MIRT2041644	hsa-miR-4513	CLIP-seq
MIRT2041647	hsa-miR-4646-3p	CLIP-seq
MIRT2041655	hsa-miR-4667-3p	CLIP-seq
MIRT2041662	hsa-miR-4727-5p	CLIP-seq
MIRT2041667	hsa-miR-4740-5p	CLIP-seq
MIRT2041670	hsa-miR-4769-3p	CLIP-seq
MIRT2390852	hsa-miR-665	CLIP-seq
MIRT1146260	hsa-miR-106a	CLIP-seq
MIRT1146261	hsa-miR-106b	CLIP-seq
MIRT1146268	hsa-miR-17	CLIP-seq
MIRT1146269	hsa-miR-20a	CLIP-seq
MIRT1146270	hsa-miR-20b	CLIP-seq
MIRT1146271	hsa-miR-302a	CLIP-seq
MIRT1146272	hsa-miR-302b	CLIP-seq
MIRT1146273	hsa-miR-302c	CLIP-seq
MIRT1146274	hsa-miR-302d	CLIP-seq
MIRT1146275	hsa-miR-302e	CLIP-seq
MIRT1146276	hsa-miR-3140-3p	CLIP-seq
MIRT1146279	hsa-miR-3609	CLIP-seq
MIRT1146284	hsa-miR-372	CLIP-seq
MIRT1146285	hsa-miR-373	CLIP-seq
MIRT1146302	hsa-miR-4796-3p	CLIP-seq
MIRT1146306	hsa-miR-519d	CLIP-seq
MIRT1146307	hsa-miR-520a-3p	CLIP-seq
MIRT1146308	hsa-miR-520b	CLIP-seq
MIRT1146309	hsa-miR-520c-3p	CLIP-seq
MIRT1146310	hsa-miR-520d-3p	CLIP-seq
MIRT1146311	hsa-miR-520e	CLIP-seq
MIRT1146312	hsa-miR-520f	CLIP-seq
MIRT1146313	hsa-miR-548ah	CLIP-seq
MIRT1146317	hsa-miR-93	CLIP-seq
MIRT2041580	hsa-miR-103a	CLIP-seq
MIRT1146260	hsa-miR-106a	CLIP-seq
MIRT1146261	hsa-miR-106b	CLIP-seq
MIRT2041581	hsa-miR-107	CLIP-seq
MIRT2041582	hsa-miR-1197	CLIP-seq
MIRT2041584	hsa-miR-1202	CLIP-seq
MIRT2041585	hsa-miR-1205	CLIP-seq
MIRT2570321	hsa-miR-1225-3p	CLIP-seq
MIRT2570322	hsa-miR-1233	CLIP-seq
MIRT2041586	hsa-miR-1253	CLIP-seq
MIRT2041587	hsa-miR-1256	CLIP-seq
MIRT2570323	hsa-miR-125a-5p	CLIP-seq
MIRT2570324	hsa-miR-125b	CLIP-seq
MIRT2041588	hsa-miR-1275	CLIP-seq
MIRT2570325	hsa-miR-1293	CLIP-seq
MIRT2041589	hsa-miR-1302	CLIP-seq
MIRT2041593	hsa-miR-1470	CLIP-seq
MIRT1146265	hsa-miR-148a	CLIP-seq
MIRT1146266	hsa-miR-148b	CLIP-seq
MIRT1146267	hsa-miR-152	CLIP-seq
MIRT2570326	hsa-miR-1538	CLIP-seq
MIRT2041594	hsa-miR-1587	CLIP-seq
MIRT2041595	hsa-miR-15a	CLIP-seq
MIRT2041596	hsa-miR-15b	CLIP-seq
MIRT2041597	hsa-miR-16	CLIP-seq
MIRT1146268	hsa-miR-17	CLIP-seq
MIRT2041598	hsa-miR-1827	CLIP-seq
MIRT2570327	hsa-miR-184	CLIP-seq
MIRT2041599	hsa-miR-1915	CLIP-seq
MIRT2041600	hsa-miR-195	CLIP-seq
MIRT2570328	hsa-miR-1972	CLIP-seq
MIRT2041601	hsa-miR-19a	CLIP-seq
MIRT2041602	hsa-miR-19b	CLIP-seq
MIRT1146269	hsa-miR-20a	CLIP-seq
MIRT1146270	hsa-miR-20b	CLIP-seq
MIRT2041603	hsa-miR-2114	CLIP-seq
MIRT2041604	hsa-miR-2115	CLIP-seq
MIRT2041605	hsa-miR-214	CLIP-seq
MIRT2041607	hsa-miR-22	CLIP-seq
MIRT1146248	hsa-miR-2276	CLIP-seq
MIRT2041608	hsa-miR-3117-5p	CLIP-seq
MIRT2041610	hsa-miR-3122	CLIP-seq
MIRT2570329	hsa-miR-3135b	CLIP-seq
MIRT2570330	hsa-miR-3158-3p	CLIP-seq
MIRT1146249	hsa-miR-3173-3p	CLIP-seq
MIRT2041612	hsa-miR-3194-3p	CLIP-seq
MIRT2041613	hsa-miR-3194-5p	CLIP-seq
MIRT2570331	hsa-miR-339-5p	CLIP-seq
MIRT2041614	hsa-miR-342-5p	CLIP-seq
MIRT2570332	hsa-miR-3611	CLIP-seq
MIRT2570333	hsa-miR-361-3p	CLIP-seq
MIRT2041615	hsa-miR-3614-5p	CLIP-seq
MIRT1146250	hsa-miR-3616-3p	CLIP-seq
MIRT2570334	hsa-miR-3616-5p	CLIP-seq
MIRT2570335	hsa-miR-3647-5p	CLIP-seq
MIRT2570336	hsa-miR-3652	CLIP-seq
MIRT1146251	hsa-miR-3665	CLIP-seq
MIRT2570337	hsa-miR-3677-5p	CLIP-seq
MIRT2570338	hsa-miR-3689a-5p	CLIP-seq
MIRT2570339	hsa-miR-3689b	CLIP-seq
MIRT2570340	hsa-miR-3689e	CLIP-seq
MIRT2570341	hsa-miR-3689f	CLIP-seq
MIRT2570342	hsa-miR-377	CLIP-seq
MIRT2041619	hsa-miR-378g	CLIP-seq
MIRT2041621	hsa-miR-3913-5p	CLIP-seq
MIRT2570343	hsa-miR-3918	CLIP-seq
MIRT2041622	hsa-miR-3934	CLIP-seq
MIRT2041623	hsa-miR-3972	CLIP-seq
MIRT2041625	hsa-miR-424	CLIP-seq
MIRT2041626	hsa-miR-4261	CLIP-seq
MIRT2041627	hsa-miR-4267	CLIP-seq
MIRT2570344	hsa-miR-4283	CLIP-seq
MIRT2041629	hsa-miR-4289	CLIP-seq
MIRT2041630	hsa-miR-4290	CLIP-seq
MIRT2041631	hsa-miR-4291	CLIP-seq
MIRT2041632	hsa-miR-4298	CLIP-seq
MIRT2570345	hsa-miR-4319	CLIP-seq
MIRT2570346	hsa-miR-4330	CLIP-seq
MIRT2041635	hsa-miR-4422	CLIP-seq
MIRT2570347	hsa-miR-4430	CLIP-seq
MIRT2570348	hsa-miR-4436a	CLIP-seq
MIRT1146252	hsa-miR-4436b-3p	CLIP-seq
MIRT1146253	hsa-miR-4438	CLIP-seq
MIRT2570349	hsa-miR-4446-5p	CLIP-seq
MIRT2041638	hsa-miR-4447	CLIP-seq
MIRT2041639	hsa-miR-4472	CLIP-seq
MIRT2041640	hsa-miR-4476	CLIP-seq
MIRT2570350	hsa-miR-4480	CLIP-seq
MIRT2570351	hsa-miR-4483	CLIP-seq
MIRT2570352	hsa-miR-4488	CLIP-seq
MIRT2041641	hsa-miR-4492	CLIP-seq
MIRT2570353	hsa-miR-4494	CLIP-seq
MIRT2041642	hsa-miR-4498	CLIP-seq
MIRT2570354	hsa-miR-4499	CLIP-seq
MIRT2041645	hsa-miR-4540	CLIP-seq
MIRT2041646	hsa-miR-4645-3p	CLIP-seq
MIRT2041647	hsa-miR-4646-3p	CLIP-seq
MIRT2570355	hsa-miR-4650-5p	CLIP-seq
MIRT2041649	hsa-miR-4651	CLIP-seq
MIRT2041650	hsa-miR-4656	CLIP-seq
MIRT2041652	hsa-miR-4663	CLIP-seq
MIRT2041653	hsa-miR-4664-5p	CLIP-seq
MIRT2041654	hsa-miR-4665-5p	CLIP-seq
MIRT2041655	hsa-miR-4667-3p	CLIP-seq
MIRT2041657	hsa-miR-4675	CLIP-seq
MIRT1146295	hsa-miR-4679	CLIP-seq
MIRT2041659	hsa-miR-4685-5p	CLIP-seq
MIRT2041660	hsa-miR-4687-5p	CLIP-seq
MIRT2570356	hsa-miR-4697-5p	CLIP-seq
MIRT1146297	hsa-miR-4700-3p	CLIP-seq
MIRT1146298	hsa-miR-4701-5p	CLIP-seq
MIRT2570357	hsa-miR-4707-3p	CLIP-seq
MIRT1146254	hsa-miR-4708-3p	CLIP-seq
MIRT2041661	hsa-miR-4715-3p	CLIP-seq
MIRT2570358	hsa-miR-4721	CLIP-seq
MIRT2570359	hsa-miR-4727-3p	CLIP-seq
MIRT2041662	hsa-miR-4727-5p	CLIP-seq
MIRT2041663	hsa-miR-4728-3p	CLIP-seq
MIRT2041665	hsa-miR-4731-5p	CLIP-seq
MIRT2570360	hsa-miR-4732-3p	CLIP-seq
MIRT1146255	hsa-miR-4736	CLIP-seq
MIRT2041668	hsa-miR-4741	CLIP-seq
MIRT2570361	hsa-miR-4745-3p	CLIP-seq
MIRT2570362	hsa-miR-4747-3p	CLIP-seq
MIRT2570363	hsa-miR-4749-3p	CLIP-seq
MIRT2570364	hsa-miR-4755-5p	CLIP-seq
MIRT2570365	hsa-miR-4758-3p	CLIP-seq
MIRT2041670	hsa-miR-4769-3p	CLIP-seq
MIRT1146256	hsa-miR-4779	CLIP-seq
MIRT2570366	hsa-miR-4795-5p	CLIP-seq
MIRT2570367	hsa-miR-4804-5p	CLIP-seq
MIRT2041673	hsa-miR-494	CLIP-seq
MIRT2041674	hsa-miR-497	CLIP-seq
MIRT2041675	hsa-miR-501-5p	CLIP-seq
MIRT2570368	hsa-miR-505	CLIP-seq
MIRT1146306	hsa-miR-519d	CLIP-seq
MIRT2041676	hsa-miR-542-3p	CLIP-seq
MIRT2570369	hsa-miR-573	CLIP-seq
MIRT1146315	hsa-miR-588	CLIP-seq
MIRT2041686	hsa-miR-593	CLIP-seq
MIRT2041687	hsa-miR-608	CLIP-seq
MIRT2041688	hsa-miR-624	CLIP-seq
MIRT2041690	hsa-miR-657	CLIP-seq
MIRT1146316	hsa-miR-663b	CLIP-seq
MIRT2570370	hsa-miR-670	CLIP-seq
MIRT2041692	hsa-miR-762	CLIP-seq
MIRT1146258	hsa-miR-764	CLIP-seq
MIRT2570371	hsa-miR-765	CLIP-seq
MIRT2041693	hsa-miR-766	CLIP-seq
MIRT2041694	hsa-miR-922	CLIP-seq
MIRT1146317	hsa-miR-93	CLIP-seq
MIRT1146259	hsa-miR-933	CLIP-seq
MIRT2041580	hsa-miR-103a	CLIP-seq
MIRT2041581	hsa-miR-107	CLIP-seq
MIRT2041582	hsa-miR-1197	CLIP-seq
MIRT2041584	hsa-miR-1202	CLIP-seq
MIRT2041585	hsa-miR-1205	CLIP-seq
MIRT2570321	hsa-miR-1225-3p	CLIP-seq
MIRT2570322	hsa-miR-1233	CLIP-seq
MIRT2041586	hsa-miR-1253	CLIP-seq
MIRT2570323	hsa-miR-125a-5p	CLIP-seq
MIRT2570324	hsa-miR-125b	CLIP-seq
MIRT2041588	hsa-miR-1275	CLIP-seq
MIRT2570325	hsa-miR-1293	CLIP-seq
MIRT2041589	hsa-miR-1302	CLIP-seq
MIRT2041593	hsa-miR-1470	CLIP-seq
MIRT2570326	hsa-miR-1538	CLIP-seq
MIRT2041594	hsa-miR-1587	CLIP-seq
MIRT2041595	hsa-miR-15a	CLIP-seq
MIRT2041596	hsa-miR-15b	CLIP-seq
MIRT2041597	hsa-miR-16	CLIP-seq
MIRT2041599	hsa-miR-1915	CLIP-seq
MIRT2041600	hsa-miR-195	CLIP-seq
MIRT2570328	hsa-miR-1972	CLIP-seq
MIRT2041603	hsa-miR-2114	CLIP-seq
MIRT2041605	hsa-miR-214	CLIP-seq
MIRT2041607	hsa-miR-22	CLIP-seq
MIRT1146248	hsa-miR-2276	CLIP-seq
MIRT2684940	hsa-miR-300	CLIP-seq
MIRT2041608	hsa-miR-3117-5p	CLIP-seq
MIRT2041610	hsa-miR-3122	CLIP-seq
MIRT2570329	hsa-miR-3135b	CLIP-seq
MIRT2570330	hsa-miR-3158-3p	CLIP-seq
MIRT1146249	hsa-miR-3173-3p	CLIP-seq
MIRT2041612	hsa-miR-3194-3p	CLIP-seq
MIRT2041613	hsa-miR-3194-5p	CLIP-seq
MIRT2570331	hsa-miR-339-5p	CLIP-seq
MIRT2041614	hsa-miR-342-5p	CLIP-seq
MIRT2570332	hsa-miR-3611	CLIP-seq
MIRT2570333	hsa-miR-361-3p	CLIP-seq
MIRT2041615	hsa-miR-3614-5p	CLIP-seq
MIRT1146250	hsa-miR-3616-3p	CLIP-seq
MIRT2570334	hsa-miR-3616-5p	CLIP-seq
MIRT2570335	hsa-miR-3647-5p	CLIP-seq
MIRT2570336	hsa-miR-3652	CLIP-seq
MIRT1146251	hsa-miR-3665	CLIP-seq
MIRT2570337	hsa-miR-3677-5p	CLIP-seq
MIRT2041619	hsa-miR-378g	CLIP-seq
MIRT2684941	hsa-miR-381	CLIP-seq
MIRT2041621	hsa-miR-3913-5p	CLIP-seq
MIRT2570343	hsa-miR-3918	CLIP-seq
MIRT2041622	hsa-miR-3934	CLIP-seq
MIRT2041623	hsa-miR-3972	CLIP-seq
MIRT2041625	hsa-miR-424	CLIP-seq
MIRT2041626	hsa-miR-4261	CLIP-seq
MIRT2041627	hsa-miR-4267	CLIP-seq
MIRT2570344	hsa-miR-4283	CLIP-seq
MIRT2041630	hsa-miR-4290	CLIP-seq
MIRT2041631	hsa-miR-4291	CLIP-seq
MIRT2041632	hsa-miR-4298	CLIP-seq
MIRT2570345	hsa-miR-4319	CLIP-seq
MIRT2570346	hsa-miR-4330	CLIP-seq
MIRT2041635	hsa-miR-4422	CLIP-seq
MIRT2570347	hsa-miR-4430	CLIP-seq
MIRT2570348	hsa-miR-4436a	CLIP-seq
MIRT1146252	hsa-miR-4436b-3p	CLIP-seq
MIRT1146253	hsa-miR-4438	CLIP-seq
MIRT2570349	hsa-miR-4446-5p	CLIP-seq
MIRT2041638	hsa-miR-4447	CLIP-seq
MIRT2041639	hsa-miR-4472	CLIP-seq
MIRT2041640	hsa-miR-4476	CLIP-seq
MIRT2570351	hsa-miR-4483	CLIP-seq
MIRT2570352	hsa-miR-4488	CLIP-seq
MIRT2041641	hsa-miR-4492	CLIP-seq
MIRT2570353	hsa-miR-4494	CLIP-seq
MIRT2041642	hsa-miR-4498	CLIP-seq
MIRT2570354	hsa-miR-4499	CLIP-seq
MIRT2684942	hsa-miR-4501	CLIP-seq
MIRT2041645	hsa-miR-4540	CLIP-seq
MIRT2041646	hsa-miR-4645-3p	CLIP-seq
MIRT2041647	hsa-miR-4646-3p	CLIP-seq
MIRT2570355	hsa-miR-4650-5p	CLIP-seq
MIRT2041649	hsa-miR-4651	CLIP-seq
MIRT2041650	hsa-miR-4656	CLIP-seq
MIRT2041653	hsa-miR-4664-5p	CLIP-seq
MIRT2041654	hsa-miR-4665-5p	CLIP-seq
MIRT2041655	hsa-miR-4667-3p	CLIP-seq
MIRT2041657	hsa-miR-4675	CLIP-seq
MIRT2041659	hsa-miR-4685-5p	CLIP-seq
MIRT2041660	hsa-miR-4687-5p	CLIP-seq
MIRT2570356	hsa-miR-4697-5p	CLIP-seq
MIRT1146297	hsa-miR-4700-3p	CLIP-seq
MIRT2570357	hsa-miR-4707-3p	CLIP-seq
MIRT1146254	hsa-miR-4708-3p	CLIP-seq
MIRT2041661	hsa-miR-4715-3p	CLIP-seq
MIRT2570358	hsa-miR-4721	CLIP-seq
MIRT2570359	hsa-miR-4727-3p	CLIP-seq
MIRT2041662	hsa-miR-4727-5p	CLIP-seq
MIRT2041665	hsa-miR-4731-5p	CLIP-seq
MIRT2570360	hsa-miR-4732-3p	CLIP-seq
MIRT1146255	hsa-miR-4736	CLIP-seq
MIRT2041668	hsa-miR-4741	CLIP-seq
MIRT2570361	hsa-miR-4745-3p	CLIP-seq
MIRT2570362	hsa-miR-4747-3p	CLIP-seq
MIRT2570363	hsa-miR-4749-3p	CLIP-seq
MIRT2570364	hsa-miR-4755-5p	CLIP-seq
MIRT2570365	hsa-miR-4758-3p	CLIP-seq
MIRT2041670	hsa-miR-4769-3p	CLIP-seq
MIRT1146256	hsa-miR-4779	CLIP-seq
MIRT2570366	hsa-miR-4795-5p	CLIP-seq
MIRT2041673	hsa-miR-494	CLIP-seq
MIRT2041674	hsa-miR-497	CLIP-seq
MIRT2041675	hsa-miR-501-5p	CLIP-seq
MIRT2570369	hsa-miR-573	CLIP-seq
MIRT2041686	hsa-miR-593	CLIP-seq
MIRT2041687	hsa-miR-608	CLIP-seq
MIRT2041688	hsa-miR-624	CLIP-seq
MIRT2041690	hsa-miR-657	CLIP-seq
MIRT1146316	hsa-miR-663b	CLIP-seq
MIRT2570370	hsa-miR-670	CLIP-seq
MIRT2041692	hsa-miR-762	CLIP-seq
MIRT1146258	hsa-miR-764	CLIP-seq
MIRT2570371	hsa-miR-765	CLIP-seq
MIRT2041693	hsa-miR-766	CLIP-seq
MIRT2041694	hsa-miR-922	CLIP-seq
MIRT1146259	hsa-miR-933	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARGC1A	Activation	17828388

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001825	Process	Blastocyst formation	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	16936636, 17121834, 19052620, 23620051, 24282027, 25008184, 27059175, 28514442, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	11181170, 20871098
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005829	Component	Cytosol	ISS
GO:0006626	Process	Protein targeting to mitochondrion	IDA	11181170
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007006	Process	Mitochondrial membrane organization	IDA	11181170
GO:0008053	Process	Mitochondrial fusion	IBA
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008053	Process	Mitochondrial fusion	IGI	38843396
GO:0008053	Process	Mitochondrial fusion	IMP	23921378
GO:0008053	Process	Mitochondrial fusion	ISS
GO:0008053	Process	Mitochondrial fusion	NAS	11181170
GO:0009060	Process	Aerobic respiration	IMP	19889647
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16936636
GO:0034497	Process	Protein localization to phagophore assembly site	IDA	23455425
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IDA	15322553
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	ISS
GO:0051646	Process	Mitochondrion localization	IBA
GO:0051646	Process	Mitochondrion localization	IDA	11181170
GO:0061734	Process	Type 2 mitophagy	IEA
GO:0061734	Process	Type 2 mitophagy	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	28539390
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	27640178
GO:1905461	Process	Positive regulation of vascular associated smooth muscle cell apoptotic process	IMP	27640178

Other IDs

• MIM: 608507
• HGNC: 16877
• e!Ensembl: ENSG00000116688

Protein

• UniProt ID: O95140
• Protein name: Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN2)
• Protein function: Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:19889647, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is dete
• PDB: 6JFK, 6JFL, 6JFM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00350	Dynamin_N	99 → 259	Dynamin family	Domain
  PF04799	Fzo_mitofusin	594 → 754	fzo-like conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; expressed at low level. Highly expressed in heart and kidney. {ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12759376}.
• Sequence:

  MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
  YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
  VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
  VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
  FHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
  IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
  HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
  QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
  RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
  IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
  VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
  FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
  IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR

• Sequence length: 757

Pathways

KEGG:

Mitophagy - animal
NOD-like receptor signaling pathway
Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

Pink/Parkin Mediated Mitophagy
Factors involved in megakaryocyte development and platelet production

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
;Charcot-Marie-Tooth disease type 2A2	Likely pathogenic; Pathogenic	rs28940292	RCV000763240	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
;Hereditary motor and sensory neuropathy with optic atrophy	Pathogenic	rs119103268	RCV000515385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Likely pathogenic	rs2523037228	RCV003484473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs863224069	RCV001090177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Likely pathogenic	rs1060501925	RCV001796569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs587777875, rs28940291, rs28940292, rs28940294, rs28940295, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs794729198, rs863224842, rs879254011, rs879253939, rs1057517987, rs387906991, rs1064794316, rs1064795818, rs1458700065, rs1553146559, rs1553142428, rs1557537223, rs1557524703, rs1557525153, rs1557539119, rs1557537346, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1569834500, rs1569861708, rs1557525005	RCV000789066 RCV000857091 RCV000857112 RCV000789418 RCV000789417 RCV000789416 RCV001173686 RCV000857103 RCV000857095 RCV001173687 RCV000144872 RCV000789360 RCV000857097 RCV000789067 RCV000789407 RCV000789392 RCV000857102 RCV000789406 RCV000857101 RCV000789411 RCV000789395 RCV001027507 RCV000790041 RCV000789408 RCV000789396 RCV000789692 RCV000789409 RCV000790019 RCV000789361 RCV000790024 RCV000789702 RCV000789375 RCV000790013 RCV000789415 RCV000790042 RCV000789389 RCV000790036 RCV000789703 RCV000790328 RCV000789362 RCV000790040 RCV000789419 RCV000789378 RCV000790028 RCV000789075 RCV000790047 RCV000789368 RCV000790010 RCV000789074 RCV000857098	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease dominant intermediate B	Pathogenic	rs119103268	RCV005644469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2	Pathogenic; Likely pathogenic	rs1569851570, rs2100822486, rs794729198, rs2100822581, rs2100831900, rs2100853065, rs772732232, rs762440627, rs1569816194, rs2100841033, rs2100812695, rs2100825988, rs2100852782, rs2100856157, rs1553141686, rs2100853005, rs1569834720, rs2100822209, rs587777875, rs28940291, rs28940292, rs28940293, rs28940294, rs119103261, rs119103262, rs119103263, rs119103265, rs119103267, rs119103268, rs794727035, rs1286723655, rs1639199557, rs2523057920, rs1638957324, rs2523094644, rs767601252, rs1483207355, rs863224069, rs863224842, rs2523099344, rs863224969, rs863224970, rs863224967, rs863224968, rs2523061214, rs2523134899, rs864622480, rs879253777, rs879253957, rs879254011, rs879253939, rs1569830013, rs2523095452, rs754530491, rs1569853976, rs2523037515, rs2523010293, rs2523021639, rs2100831955, rs1557525000, rs2523010895, rs2522984875, rs2523010718, rs1638739623, rs2523122904, rs1057517987, rs1060501918, rs879254210, rs28940295, rs1060501925, rs1060501920, rs1060501915, rs387906990, rs387906991, rs1064795818, rs759844257, rs1458700065, rs1553142436, rs1553146559, rs778937659, rs1553143890, rs1553142428, rs1064793170, rs1553144086, rs1553143165, rs1557537223, rs1557522794, rs1557524703, rs1557522849, rs1557525153, rs1557539119, rs1557525005, rs1557537346, rs757937208, rs1569816285, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1569834500, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1569842296, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1639048523, rs1317009723, rs756693072, rs1639200820, rs1638740322, rs1639299226, rs1638739035	RCV001377645 RCV002032606 RCV002539783 RCV001962206 RCV001904161 RCV001991177 RCV001935017 RCV001950903 RCV001970191 RCV001973372 RCV002050445 RCV001863268 RCV002002444 RCV002035256 RCV001999958 RCV001946636 RCV001956258 RCV002023039 RCV002001542 RCV000653884 RCV000463055 RCV000197403 RCV000653847 RCV000549934 RCV000547064 RCV001208639 RCV000199279 RCV000195560 RCV000472857 RCV000556047 RCV002517672 RCV002648126 RCV002648127 RCV003116050 RCV001245336 RCV002726184 RCV002814828 RCV002835156 RCV002900028 RCV000462918 RCV000197438 RCV003018188 RCV001386993 RCV000653851 RCV000793093 RCV003581583 RCV003015567 RCV003021592 RCV003030071 RCV000205521 RCV000231193 RCV000693266 RCV005055788 RCV000463885 RCV002518431 RCV003582407 RCV003582559 RCV003582756 RCV003581418 RCV003582715 RCV003582914 RCV003582989 RCV003744073 RCV003744244 RCV003743058 RCV003743103 RCV003743098 RCV003743367 RCV003743484 RCV003745229 RCV001219307 RCV000474635 RCV000469837 RCV000464171 RCV000458069 RCV000469424 RCV000457530 RCV000456775 RCV001388766 RCV001856863 RCV000802072 RCV001062795 RCV000689677 RCV000543497 RCV000557390 RCV000530896 RCV000544862 RCV000653896 RCV000653940 RCV000653938 RCV000653952 RCV000653865 RCV000697850 RCV000686972 RCV000697709 RCV000697586 RCV000700405 RCV000693486 RCV000687000 RCV000693474 RCV000695484 RCV000810083 RCV001862000 RCV001064640 RCV001206471 RCV001856236 RCV003581716 RCV001232114 RCV001248236 RCV001377874 RCV000796767 RCV001380591 RCV001204495 RCV001869222 RCV003581725 RCV001215422 RCV001247103 RCV001856234 RCV001204551 RCV000809868 RCV000798323 RCV000821854 RCV000796496 RCV000792753 RCV000812502 RCV000795970 RCV001858529 RCV005056714 RCV001036451 RCV001051302 RCV001066912 RCV001062964 RCV001071615 RCV001037498 RCV001044638 RCV001202315 RCV001211210 RCV001236164 RCV001236367 RCV001243528 RCV001230889 RCV001381190	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2A2	Likely pathogenic; Pathogenic	rs2100822486, rs794729198, rs1569842764, rs587777875, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103267, rs119103268, rs863224069, rs863224969, rs863224970, rs863224967, rs863224968, rs767601252, rs879253777, rs879253861, rs763492075, rs879254011, rs2523036866, rs2523035483, rs387906991, rs1553142436, rs1266361856, rs1557537223, rs1557522849, rs1557539119, rs1557537346, rs757937208, rs1569843694, rs1569889919, rs1569842296, rs1557524703, rs1639045345, rs866604005, rs1639197832, rs1639047697	RCV004801036 RCV002221162 RCV001785337 RCV000143799 RCV000002356 RCV000002357 RCV000002358 RCV000002359 RCV000002360 RCV000002361 RCV000002362 RCV000002363 RCV000002364 RCV000023711 RCV000239892 RCV000002371 RCV000184017 RCV001726042 RCV000201006 RCV000201063 RCV002051828 RCV000201055 RCV003129573 RCV000235088 RCV000235092 RCV000235053 RCV000235085 RCV003984833 RCV003237405 RCV003337861 RCV003887820 RCV000023716 RCV004797614 RCV000626228 RCV002468601 RCV000986242 RCV001712732 RCV001809756 RCV004788131 RCV003988854 RCV005624169 RCV001726327 RCV000986243 RCV000986244 RCV000986245 RCV002221157 RCV002290578 RCV003444775 RCV001256669	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Pathogenic	rs119103265	RCV000857104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b	Likely pathogenic; Pathogenic	rs28940292, rs28940294, rs119103268	RCV000763240 RCV005409593 RCV000515385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	Pathogenic; Likely pathogenic	rs369186298, rs28940291, rs28940294, rs119103263, rs119103267, rs119103268, rs387906990, rs387906991, rs1553144086, rs1553141017, rs757937208	RCV002280366 RCV003332992 RCV006439558 RCV004558234 RCV000002369 RCV003332994 RCV000023714 RCV000240513 RCV003128251 RCV000664230 RCV000714526	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, type 2A	Likely pathogenic; Pathogenic	rs119103267, rs1458700065	RCV002508915 RCV003483651	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1639200820	RCV001527614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary motor and sensory neuropathy with optic atrophy	Likely pathogenic; Pathogenic	rs28940292, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs863224967, rs1057517987, rs387906991, rs864622480, rs1553145402	RCV000763240 RCV000190245 RCV000002367 RCV000002368 RCV002508915 RCV000002370 RCV001542541 RCV000995579 RCV001198485 RCV000502695 RCV000578294	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary motor neuron disease	Pathogenic	rs1557522794	RCV001027465	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary neuropathy or pain disorder	Likely pathogenic; Pathogenic	rs863224967	RCV005865272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MFN2-related disorder	Likely pathogenic; Pathogenic	rs28940292, rs119103267, rs863224967, rs2523072193, rs387906991, rs1557537346	RCV002444413 RCV000778183 RCV004530201 RCV004529644 RCV005867795 RCV004535732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple symmetric lipomatosis	Likely pathogenic; Pathogenic	rs119103267	RCV003231070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple system atrophy, cerebellar type	Likely pathogenic	rs879253957	RCV002307469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathy, hereditary motor and sensory, type 6A	Pathogenic; Likely pathogenic	rs28940291, rs28940294, rs119103263, rs119103267, rs119103268, rs863224970, rs879253939, rs387906991, rs1639043704	RCV003332993 RCV002468552 RCV004558235 RCV002247240 RCV003332995 RCV003338460 RCV003314584 RCV005409608 RCV004789371	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease type 2A2	Likely pathogenic; Pathogenic	rs28940294	RCV005409593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral axonal neuropathy	Likely pathogenic; Pathogenic	rs119103267	RCV001775061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs757937208	RCV001836873	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe early-onset axonal neuropathy due to MFN2 deficiency	Pathogenic	rs2100841026	RCV002273872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic; Pathogenic	rs2100831816, rs119103267	RCV002052434 RCV003319157	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs1639048523	RCV005912461	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
;Multiple symmetric lipomatosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
;Neuropathy, hereditary motor and sensory, type 6A	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXONAL HEREDITARY MOTOR AND SENSORY NEUROPATHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2A1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2A2;Neuropathy, hereditary motor and sensory, type 6A	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B,	—	ClinVar, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTROPHIA UNGUIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor and sensory neuropathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	8439320		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25796500, 26733181, 30061179		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	23517130		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24252614, 33998543	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28096879		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20951041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	22426798		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31104361		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	30058380		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	30058380	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32532879, 38274408	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31104361		★☆☆☆☆ Found in Text Mining only
Atrophy of the spinal cord	Atrophy of the spinal cord	BEFREE	24957169		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23333625, 31018497	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2A2	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30339249, 30940514		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	26530043		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28463235	Inhibit	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31402945		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	38274408	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21987543	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31017259		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23588792, 26888829, 28176801, 29731912, 30932749, 31535669		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30932749, 31535669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26845057	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26845057, 35751897	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27389277	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	20803103, 31402945		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30410558		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37845657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29494264		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21148429, 28261787		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36882677	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30873819	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	34803088	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31281507		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30061179		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	32417558	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	38274408	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Palsy	Cerebral palsy	Pubtator	18425620	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebrovascular accident	Stroke	LHGDN	18490623		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21258814		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29848692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	29848692		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29587277, 29848692, 31384172		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	11003785, 15549395, 15829499, 16437557, 16468021, 16714318, 16762064, 16835246, 17215403, 17309650, 17537722, 18316077, 18425620, 18946002, 18996695, 19618221, 19889647, 20163430, 20350294, 20418531, 20587496, 21258814, 21526202, 21531138, 21715711, 21987543, 22155564, 22442078, 22526351, 22546700, 22653593, 22926664, 23840650, 24126688, 24530046, 24863639, 24957169, 25253751, 25326399, 25403865, 25448007, 25796500, 25847151, 25957633, 26085578, 26114802, 26306937, 26307494, 26382835, 26556829, 26801520, 26916081, 26955893, 26956144, 27506976, 27706887, 27862672, 28215760, 28587902, 28660751, 28771897, 29215088, 29361379, 30158064, 30442897, 30649465, 8842741		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	16087932, 16762064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	16714318, 18425620, 21531138, 21840889, 25025039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	Charcot-Marie-Tooth Disease	CLINVAR_DG	15064763, 15549395, 18458227, 20008656, 20350294, 21326314, 22492563, 24053775, 24126688, 25025039, 26085578, 26114802, 26257172, 26378787, 28251916, 28414270, 29358271, 30158064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	Charcot-Marie-Tooth Disease	UNIPROT_DG	15064763, 15549395, 16762064, 20350294, 22206013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	21715711, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	Charcot-Marie-Tooth Disease	BEFREE	22762946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B	Charcot-Marie-Tooth Disease	CLINVAR_DG	16835246, 18458227, 21715711, 26085578		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B	Charcot-Marie-Tooth Disease	UNIPROT_DG	18458227, 20350294, 21715711, 26085578, 26955893		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	21715711		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)	Charcot-Marie-Tooth Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A	Charcot-Marie-Tooth Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	18602827, 29063243		★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	23755235	Inhibit	★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	28729638		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31322244		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30498519		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25064321	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23906296		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31796117, 36810285	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	29367651		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	29174527		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24874428, 24905188, 28384228, 29499950, 31024341		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31654396		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31654396		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31654396		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	38274408	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	18425620, 24053775	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	25574825		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30922813		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20032281	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30922813		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20032281, 22778543	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33426802	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16123358, 19584314, 20032281, 20175989, 28923829, 31849103		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33679616	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	27997345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30922813		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	40650203	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30940795		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	BEFREE	31640251		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	20350294	Associate	★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystrophia unguium	Nail dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	BEFREE	20940517, 23549803, 26816493, 29880838		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	20940517, 26816493, 40118787	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	21707411	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	37522325	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29602237		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31802713		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	19268652		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28751712		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28751712	Associate	★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy Autosomal Dominant	Giant axonal neuropathy	Pubtator	32532879	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28684211		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36838582	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26307494		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	32532879	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	38274408	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	38274408	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24874428, 24905188, 28384228, 29499950, 31024341		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	27179829	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30873819	Associate	★☆☆☆☆ Found in Text Mining only
Heart Injuries	Cardiac injury	Pubtator	35561545	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30290401		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	25253751		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	11231025, 18946002, 18957892, 20008656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor and sensory neuropathy type 5	Hereditary Motor And Sensory Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor and sensory neuropathy type 6	Hereditary Motor And Sensory Neuropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor And Sensory Neuropathy VI	Hereditary motor and sensory neuropathies	Pubtator	21707411, 22466841, 24198383	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	BEFREE	16437557, 16835246, 18946002, 19268652, 21707411, 25957633		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	UNIPROT_DG	16437557, 20350294, 24604904, 26085578		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	ORPHANET_DG	16437557		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	GENOMICS_ENGLAND_DG	21715711, 27604308		★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary motor and sensory neuropathy with optic atrophy (disorder)	Hereditary Motor And Sensory Neuropathy With Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	10520946, 16762064, 17444508, 20008656, 21258814, 21601224, 24530046, 26581383, 26686600, 26956144, 30911005, 8406488, 9219740, 9409358, 9595994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CLINVAR_DG	10732809, 15064763, 15549395, 16043786, 16087932, 16437557, 16714318, 16762064, 16835246, 17215403, 17296794, 17309650, 17437620, 17444508, 17959936, 18316077, 18425620, 184582, 18946002, 18957892, 18996695, 19350291, 19812251, 19889647, 20008656, 20335458, 20350294, 20951041, 21258814, 21285398, 21326314, 21508331, 21531138, 21707411, 21715711, 21840889, 22206013, 22442078, 22492563, 22851605, 22926664, 24078732, 24126688, 24450158, 24473995, 24604904, 24627108, 24819634, 24862862, 24863639, 24957169, 25025039, 25403865, 25448007, 25614874, 25802885, 25957633, 26085578, 26114802, 26257172, 26307494, 26378787, 26382835, 26686600, 26801520, 26955893, 26989944, 27100445, 27549087, 27862672, 28063088, 28251916, 28414270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	30011089		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	16762064, 21258814, 24803844, 26581383, 26956144, 30996168	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	11003785		★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	BEFREE	18946002		★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21257639, 26307536		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21257639, 39284371	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	32532879	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	20940517, 28414270	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20940517, 23549803, 40118787	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20940517, 23549803, 26816493, 30940795		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27640178, 36882677	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23449689		★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	27506976, 27706887		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32532879	Associate	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	28729638		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33679616	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37845657	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	27553710		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36739349	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37088914	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	30158064		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28414270, 30158064		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	28414270, 38274408	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	30158064		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	26085578, 30158064, 31186450		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	ORPHANET_DG	26085578		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20514460, 21190094, 22510407, 23906296, 24503793, 25541060, 26845057, 30498519		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30498519		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33220464	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	28513770	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28513770		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23906296		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	19754948		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36877954	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23588792, 26888829, 28176801, 29731912, 30932749, 31535669		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30923462, 31051106		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29494264		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29749475, 30046371		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26530043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	11836575, 23517130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23797661, 28607589		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31402945		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23797661, 25796500, 28176801, 28698145, 29491355, 29731912, 31036292, 31220477		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29848692		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29981809, 30468799, 30916813		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	29367651		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25064321		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	30316324		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18316077, 23755235, 25064321, 26942197, 28076385, 28251664, 28414270, 31276298, 33998543, 36739349, 36877954, 37580749, 39284371	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	18946002, 31276298, 31609634		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	LHGDN	18946002		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28751712	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	22189565		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20951041		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21987543		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21987543	Associate	★☆☆☆☆ Found in Text Mining only
Multiple symmetric lipomatosis	Multiple Symmetric Lipomatosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple System Atrophy	Multiple system atrophy	Pubtator	25820230	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	32532879	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	26443318	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30744415		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20803103, 21190094, 22510407, 23797661, 24503793, 25541060, 26845057, 26888829, 28176801, 29587277, 29731912, 29749475, 29848692, 30418940, 31384172, 31402945, 8439320		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21987543	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26143526, 26956144, 29391029, 30830587, 30882369		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31134519, 8842741		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25820230, 31664033	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16468021, 19584314, 20649534, 26143526, 26168012, 28110471, 28684211, 29290623, 29491355, 31134519, 31664033		★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	34193129	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	15549395, 15829499, 16762064, 16835246, 17309650, 17537722, 18425620, 18957892, 19889647, 20418531, 20951042, 21508331, 21987543, 22526351, 22546700, 26085578, 26143526, 26306937, 26307494, 26581383, 28110471, 30030216, 30210586		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	BEFREE	21402391		★☆☆☆☆ Found in Text Mining only
Neuropathy hereditary motor and sensory Russe type	Hereditary motor and sensory neuropathy	Pubtator	34193129	Associate	★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	27997345		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31139863		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30410558		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12598526, 16123358, 16160866, 28539390		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	16160866		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	16437557, 18946002, 18996695, 19268652, 19889647, 20951041, 21148429, 21707411, 21987543, 22189565, 26306937, 26686600, 28131082		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic atrophy	Pubtator	18425620, 21258814, 21707411, 21987543, 30996168, 32532879, 34803088, 38274408	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	GENOMICS_ENGLAND_DG	21715711		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy 1	Optic Atrophy	BEFREE	16437557, 16468021, 18568013, 19584314, 22189565, 23006856, 25486875, 26168012, 28096879, 28118288, 28131082, 28939434, 28940366, 29378182, 30078226, 30112072, 31032918, 31055771, 31263382, 31445975, 31551926, 31705926, 31841897		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	22433900	Associate	★☆☆☆☆ 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	16437557, 19268652		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	25957633, 29063243		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32417558	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12527938		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37405988	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29494264		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29494264	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36308626	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29749475, 30046371		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30046371, 32377725, 39237684	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21139416	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28215578, 30233726, 30240821, 30945962, 31657074		★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29237928, 31322173		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	29237928, 33324344	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal atrophy	Peripheral axonal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26168012		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral axonal neuropathy	Peripheral axonal neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	19052620, 20350294		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	16437557, 19812251, 20008656, 24862862, 24863639, 28587902, 30659145, 30911005		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	21987543	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	LHGDN	18490623		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20008656, 24862862, 24863639, 28587902, 30659145, 30911005		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31064883, 31138767		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	26443318, 29341354	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	17437620, 21402391		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	8842741		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26530043		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	36998021	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23449689		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	36264759	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34831227, 38110986	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31358769		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31639106		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	28414270	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	27088055		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	27088055	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30922813		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	26307494, 30011089		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	33494815	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29358849, 30380511		★☆☆☆☆ Found in Text Mining only
Severe early-onset axonal neuropathy due to MFN2 deficiency	Axonal Neuropathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency	Saxonal Neuropathy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35359935	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	23755235, 24610934, 28751712, 33146568, 33609088, 35326504	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	32092105	Inhibit	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26686600		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20817187, 31051106		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23797661, 28607589		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23797661, 29436693	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21258814	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	34803088	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	38012555	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only