HSPB8 (heat shock protein family B (small) member 8)

Gene

• Entrez ID: 26353
• Gene name: Heat shock protein family B (small) member 8
• Gene symbol: HSPB8
• Synonyms (NCBI Gene): CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HMND2, HSP22, HSPB8-N1, HSPB8-N2, MFM13
• Chromosome: 12
• Chromosome location: 12q24.23
• Summary: The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-posi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35909818	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs55826713	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs60924821	TAATAA>-,TAA,TAATAATAA,TAATAATAATAA,TAATAATAATAATAA,TAATAATAATAATAATAA,TAATAATAATAATAATAATAA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs373049356	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1565930588	TACTCAACATTTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036507	hsa-miR-1226-3p	CLASH	23622248
MIRT502215	hsa-miR-1296-3p	PAR-CLIP	24398324
MIRT502214	hsa-miR-4491	PAR-CLIP	24398324
MIRT502213	hsa-miR-4657	PAR-CLIP	24398324
MIRT502212	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502211	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502210	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502209	hsa-miR-194-3p	PAR-CLIP	24398324
MIRT502208	hsa-miR-4645-5p	PAR-CLIP	24398324
MIRT502207	hsa-miR-4673	PAR-CLIP	24398324
MIRT502206	hsa-miR-4755-3p	PAR-CLIP	24398324
MIRT502204	hsa-miR-6828-5p	PAR-CLIP	24398324
MIRT502205	hsa-miR-671-5p	PAR-CLIP	24398324
MIRT502203	hsa-miR-193b-5p	PAR-CLIP	24398324
MIRT502202	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT502200	hsa-miR-6742-5p	PAR-CLIP	24398324
MIRT502201	hsa-miR-6079	PAR-CLIP	24398324
MIRT502199	hsa-miR-3170	PAR-CLIP	24398324
MIRT502198	hsa-miR-6855-5p	PAR-CLIP	24398324
MIRT502197	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT502215	hsa-miR-1296-3p	PAR-CLIP	24398324
MIRT502214	hsa-miR-4491	PAR-CLIP	24398324
MIRT502213	hsa-miR-4657	PAR-CLIP	24398324
MIRT502212	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT502211	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT502210	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT502209	hsa-miR-194-3p	PAR-CLIP	24398324
MIRT502208	hsa-miR-4645-5p	PAR-CLIP	24398324
MIRT502207	hsa-miR-4673	PAR-CLIP	24398324
MIRT502206	hsa-miR-4755-3p	PAR-CLIP	24398324
MIRT502204	hsa-miR-6828-5p	PAR-CLIP	24398324
MIRT502205	hsa-miR-671-5p	PAR-CLIP	24398324
MIRT502203	hsa-miR-193b-5p	PAR-CLIP	24398324
MIRT502202	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT502200	hsa-miR-6742-5p	PAR-CLIP	24398324
MIRT502201	hsa-miR-6079	PAR-CLIP	24398324
MIRT502199	hsa-miR-3170	PAR-CLIP	24398324
MIRT502198	hsa-miR-6855-5p	PAR-CLIP	24398324
MIRT502197	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT1056468	hsa-miR-1200	CLIP-seq
MIRT1056469	hsa-miR-1208	CLIP-seq
MIRT1056470	hsa-miR-1231	CLIP-seq
MIRT1056471	hsa-miR-124	CLIP-seq
MIRT1056472	hsa-miR-1273e	CLIP-seq
MIRT1056473	hsa-miR-1273g	CLIP-seq
MIRT1056474	hsa-miR-128	CLIP-seq
MIRT1056475	hsa-miR-1285	CLIP-seq
MIRT1056476	hsa-miR-1287	CLIP-seq
MIRT1056477	hsa-miR-1295	CLIP-seq
MIRT1056478	hsa-miR-1321	CLIP-seq
MIRT1056479	hsa-miR-146a	CLIP-seq
MIRT1056480	hsa-miR-146b-5p	CLIP-seq
MIRT1056481	hsa-miR-1910	CLIP-seq
MIRT1056482	hsa-miR-1914	CLIP-seq
MIRT1056483	hsa-miR-19a	CLIP-seq
MIRT1056484	hsa-miR-19b	CLIP-seq
MIRT1056485	hsa-miR-203	CLIP-seq
MIRT1056486	hsa-miR-2052	CLIP-seq
MIRT1056487	hsa-miR-2110	CLIP-seq
MIRT1056488	hsa-miR-2276	CLIP-seq
MIRT1056489	hsa-miR-2392	CLIP-seq
MIRT1056490	hsa-miR-2467-3p	CLIP-seq
MIRT1056491	hsa-miR-296-3p	CLIP-seq
MIRT1056492	hsa-miR-298	CLIP-seq
MIRT1056493	hsa-miR-299-3p	CLIP-seq
MIRT1056494	hsa-miR-3120-5p	CLIP-seq
MIRT1056495	hsa-miR-3121-5p	CLIP-seq
MIRT1056496	hsa-miR-3122	CLIP-seq
MIRT1056497	hsa-miR-3126-3p	CLIP-seq
MIRT1056498	hsa-miR-3127-3p	CLIP-seq
MIRT1056499	hsa-miR-3134	CLIP-seq
MIRT1056500	hsa-miR-3135b	CLIP-seq
MIRT1056501	hsa-miR-3143	CLIP-seq
MIRT1056502	hsa-miR-3144-5p	CLIP-seq
MIRT1056503	hsa-miR-3150a-3p	CLIP-seq
MIRT1056504	hsa-miR-3155	CLIP-seq
MIRT1056505	hsa-miR-3155b	CLIP-seq
MIRT1056506	hsa-miR-3162-5p	CLIP-seq
MIRT1056507	hsa-miR-3176	CLIP-seq
MIRT1056508	hsa-miR-3187-5p	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056510	hsa-miR-3191	CLIP-seq
MIRT1056511	hsa-miR-3200-5p	CLIP-seq
MIRT1056512	hsa-miR-33a	CLIP-seq
MIRT1056513	hsa-miR-33b	CLIP-seq
MIRT1056514	hsa-miR-3607-3p	CLIP-seq
MIRT1056515	hsa-miR-3616-3p	CLIP-seq
MIRT1056516	hsa-miR-3649	CLIP-seq
MIRT1056517	hsa-miR-3660	CLIP-seq
MIRT1056518	hsa-miR-3686	CLIP-seq
MIRT1056519	hsa-miR-3689a-3p	CLIP-seq
MIRT1056520	hsa-miR-3689c	CLIP-seq
MIRT1056521	hsa-miR-3690	CLIP-seq
MIRT1056522	hsa-miR-3713	CLIP-seq
MIRT1056523	hsa-miR-378g	CLIP-seq
MIRT1056524	hsa-miR-3913-5p	CLIP-seq
MIRT1056525	hsa-miR-3914	CLIP-seq
MIRT1056526	hsa-miR-3919	CLIP-seq
MIRT1056527	hsa-miR-3922-3p	CLIP-seq
MIRT1056528	hsa-miR-4254	CLIP-seq
MIRT1056529	hsa-miR-4258	CLIP-seq
MIRT1056530	hsa-miR-4261	CLIP-seq
MIRT1056531	hsa-miR-4300	CLIP-seq
MIRT1056532	hsa-miR-4325	CLIP-seq
MIRT1056533	hsa-miR-4420	CLIP-seq
MIRT1056534	hsa-miR-4434	CLIP-seq
MIRT1056535	hsa-miR-4436b-3p	CLIP-seq
MIRT1056536	hsa-miR-4438	CLIP-seq
MIRT1056537	hsa-miR-4469	CLIP-seq
MIRT1056538	hsa-miR-4486	CLIP-seq
MIRT1056539	hsa-miR-450b-5p	CLIP-seq
MIRT1056540	hsa-miR-4516	CLIP-seq
MIRT1056541	hsa-miR-452	CLIP-seq
MIRT1056542	hsa-miR-4526	CLIP-seq
MIRT1056543	hsa-miR-4531	CLIP-seq
MIRT1056544	hsa-miR-4534	CLIP-seq
MIRT1056545	hsa-miR-455-3p	CLIP-seq
MIRT1056546	hsa-miR-4633-3p	CLIP-seq
MIRT1056547	hsa-miR-4638-3p	CLIP-seq
MIRT1056548	hsa-miR-4652-5p	CLIP-seq
MIRT1056549	hsa-miR-4662a-3p	CLIP-seq
MIRT1056550	hsa-miR-4668-3p	CLIP-seq
MIRT1056551	hsa-miR-4676-3p	CLIP-seq
MIRT1056552	hsa-miR-4682	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT1056555	hsa-miR-4717-5p	CLIP-seq
MIRT1056556	hsa-miR-4731-3p	CLIP-seq
MIRT1056557	hsa-miR-4739	CLIP-seq
MIRT1056558	hsa-miR-4756-3p	CLIP-seq
MIRT1056559	hsa-miR-4756-5p	CLIP-seq
MIRT1056560	hsa-miR-4776-3p	CLIP-seq
MIRT1056561	hsa-miR-4789-5p	CLIP-seq
MIRT1056562	hsa-miR-4801	CLIP-seq
MIRT1056563	hsa-miR-484	CLIP-seq
MIRT1056564	hsa-miR-506	CLIP-seq
MIRT1056565	hsa-miR-507	CLIP-seq
MIRT1056566	hsa-miR-516b	CLIP-seq
MIRT1056567	hsa-miR-539	CLIP-seq
MIRT1056568	hsa-miR-543	CLIP-seq
MIRT1056569	hsa-miR-548a-5p	CLIP-seq
MIRT1056570	hsa-miR-548ab	CLIP-seq
MIRT1056571	hsa-miR-548ak	CLIP-seq
MIRT1056572	hsa-miR-548b-5p	CLIP-seq
MIRT1056573	hsa-miR-548c-3p	CLIP-seq
MIRT1056574	hsa-miR-548c-5p	CLIP-seq
MIRT1056575	hsa-miR-548d-5p	CLIP-seq
MIRT1056576	hsa-miR-548g	CLIP-seq
MIRT1056577	hsa-miR-548h	CLIP-seq
MIRT1056578	hsa-miR-548i	CLIP-seq
MIRT1056579	hsa-miR-548j	CLIP-seq
MIRT1056580	hsa-miR-548k	CLIP-seq
MIRT1056581	hsa-miR-548l	CLIP-seq
MIRT1056582	hsa-miR-548w	CLIP-seq
MIRT1056583	hsa-miR-548y	CLIP-seq
MIRT1056584	hsa-miR-557	CLIP-seq
MIRT1056585	hsa-miR-559	CLIP-seq
MIRT1056586	hsa-miR-563	CLIP-seq
MIRT1056587	hsa-miR-580	CLIP-seq
MIRT1056588	hsa-miR-589	CLIP-seq
MIRT1056589	hsa-miR-605	CLIP-seq
MIRT1056590	hsa-miR-612	CLIP-seq
MIRT1056591	hsa-miR-626	CLIP-seq
MIRT1056592	hsa-miR-629	CLIP-seq
MIRT1056593	hsa-miR-642a	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056595	hsa-miR-659	CLIP-seq
MIRT1056596	hsa-miR-660	CLIP-seq
MIRT1056597	hsa-miR-891b	CLIP-seq
MIRT1056598	hsa-miR-920	CLIP-seq
MIRT1056468	hsa-miR-1200	CLIP-seq
MIRT1056469	hsa-miR-1208	CLIP-seq
MIRT1056471	hsa-miR-124	CLIP-seq
MIRT2012971	hsa-miR-1261	CLIP-seq
MIRT1056472	hsa-miR-1273e	CLIP-seq
MIRT1056473	hsa-miR-1273g	CLIP-seq
MIRT1056474	hsa-miR-128	CLIP-seq
MIRT1056475	hsa-miR-1285	CLIP-seq
MIRT1056476	hsa-miR-1287	CLIP-seq
MIRT1056477	hsa-miR-1295	CLIP-seq
MIRT1056478	hsa-miR-1321	CLIP-seq
MIRT1056479	hsa-miR-146a	CLIP-seq
MIRT1056480	hsa-miR-146b-5p	CLIP-seq
MIRT1056481	hsa-miR-1910	CLIP-seq
MIRT1056482	hsa-miR-1914	CLIP-seq
MIRT1056490	hsa-miR-2467-3p	CLIP-seq
MIRT1056492	hsa-miR-298	CLIP-seq
MIRT1056493	hsa-miR-299-3p	CLIP-seq
MIRT2012972	hsa-miR-3074-3p	CLIP-seq
MIRT1056495	hsa-miR-3121-5p	CLIP-seq
MIRT1056497	hsa-miR-3126-3p	CLIP-seq
MIRT1056499	hsa-miR-3134	CLIP-seq
MIRT1056500	hsa-miR-3135b	CLIP-seq
MIRT1056504	hsa-miR-3155	CLIP-seq
MIRT1056505	hsa-miR-3155b	CLIP-seq
MIRT1056506	hsa-miR-3162-5p	CLIP-seq
MIRT1056507	hsa-miR-3176	CLIP-seq
MIRT1056508	hsa-miR-3187-5p	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056515	hsa-miR-3616-3p	CLIP-seq
MIRT1056517	hsa-miR-3660	CLIP-seq
MIRT2012973	hsa-miR-3667-5p	CLIP-seq
MIRT2012974	hsa-miR-3675-5p	CLIP-seq
MIRT1056523	hsa-miR-378g	CLIP-seq
MIRT1056527	hsa-miR-3922-3p	CLIP-seq
MIRT1056530	hsa-miR-4261	CLIP-seq
MIRT1056534	hsa-miR-4434	CLIP-seq
MIRT1056535	hsa-miR-4436b-3p	CLIP-seq
MIRT1056536	hsa-miR-4438	CLIP-seq
MIRT2012975	hsa-miR-4448	CLIP-seq
MIRT2012976	hsa-miR-4450	CLIP-seq
MIRT1056538	hsa-miR-4486	CLIP-seq
MIRT2012977	hsa-miR-4511	CLIP-seq
MIRT1056540	hsa-miR-4516	CLIP-seq
MIRT1056541	hsa-miR-452	CLIP-seq
MIRT1056542	hsa-miR-4526	CLIP-seq
MIRT1056543	hsa-miR-4531	CLIP-seq
MIRT1056544	hsa-miR-4534	CLIP-seq
MIRT1056545	hsa-miR-455-3p	CLIP-seq
MIRT1056547	hsa-miR-4638-3p	CLIP-seq
MIRT1056551	hsa-miR-4676-3p	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT1056555	hsa-miR-4717-5p	CLIP-seq
MIRT1056556	hsa-miR-4731-3p	CLIP-seq
MIRT1056557	hsa-miR-4739	CLIP-seq
MIRT1056559	hsa-miR-4756-5p	CLIP-seq
MIRT1056560	hsa-miR-4776-3p	CLIP-seq
MIRT1056561	hsa-miR-4789-5p	CLIP-seq
MIRT2012978	hsa-miR-4795-3p	CLIP-seq
MIRT1056562	hsa-miR-4801	CLIP-seq
MIRT1056563	hsa-miR-484	CLIP-seq
MIRT1056564	hsa-miR-506	CLIP-seq
MIRT1056567	hsa-miR-539	CLIP-seq
MIRT2012979	hsa-miR-548b-3p	CLIP-seq
MIRT1056586	hsa-miR-563	CLIP-seq
MIRT1056587	hsa-miR-580	CLIP-seq
MIRT2012980	hsa-miR-587	CLIP-seq
MIRT1056588	hsa-miR-589	CLIP-seq
MIRT1056590	hsa-miR-612	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056595	hsa-miR-659	CLIP-seq
MIRT1056596	hsa-miR-660	CLIP-seq
MIRT1056469	hsa-miR-1208	CLIP-seq
MIRT1056471	hsa-miR-124	CLIP-seq
MIRT2245227	hsa-miR-1278	CLIP-seq
MIRT1056474	hsa-miR-128	CLIP-seq
MIRT1056475	hsa-miR-1285	CLIP-seq
MIRT1056476	hsa-miR-1287	CLIP-seq
MIRT1056477	hsa-miR-1295	CLIP-seq
MIRT1056478	hsa-miR-1321	CLIP-seq
MIRT1056479	hsa-miR-146a	CLIP-seq
MIRT1056480	hsa-miR-146b-5p	CLIP-seq
MIRT1056481	hsa-miR-1910	CLIP-seq
MIRT1056482	hsa-miR-1914	CLIP-seq
MIRT1056486	hsa-miR-2052	CLIP-seq
MIRT1056487	hsa-miR-2110	CLIP-seq
MIRT1056488	hsa-miR-2276	CLIP-seq
MIRT1056489	hsa-miR-2392	CLIP-seq
MIRT1056490	hsa-miR-2467-3p	CLIP-seq
MIRT1056491	hsa-miR-296-3p	CLIP-seq
MIRT1056492	hsa-miR-298	CLIP-seq
MIRT2012972	hsa-miR-3074-3p	CLIP-seq
MIRT1056496	hsa-miR-3122	CLIP-seq
MIRT1056497	hsa-miR-3126-3p	CLIP-seq
MIRT1056498	hsa-miR-3127-3p	CLIP-seq
MIRT1056500	hsa-miR-3135b	CLIP-seq
MIRT1056501	hsa-miR-3143	CLIP-seq
MIRT1056502	hsa-miR-3144-5p	CLIP-seq
MIRT1056503	hsa-miR-3150a-3p	CLIP-seq
MIRT1056504	hsa-miR-3155	CLIP-seq
MIRT1056505	hsa-miR-3155b	CLIP-seq
MIRT1056506	hsa-miR-3162-5p	CLIP-seq
MIRT1056508	hsa-miR-3187-5p	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056510	hsa-miR-3191	CLIP-seq
MIRT1056511	hsa-miR-3200-5p	CLIP-seq
MIRT1056515	hsa-miR-3616-3p	CLIP-seq
MIRT2012973	hsa-miR-3667-5p	CLIP-seq
MIRT2012974	hsa-miR-3675-5p	CLIP-seq
MIRT1056519	hsa-miR-3689a-3p	CLIP-seq
MIRT1056520	hsa-miR-3689c	CLIP-seq
MIRT1056523	hsa-miR-378g	CLIP-seq
MIRT1056524	hsa-miR-3913-5p	CLIP-seq
MIRT1056526	hsa-miR-3919	CLIP-seq
MIRT2245228	hsa-miR-425	CLIP-seq
MIRT1056529	hsa-miR-4258	CLIP-seq
MIRT1056530	hsa-miR-4261	CLIP-seq
MIRT1056531	hsa-miR-4300	CLIP-seq
MIRT1056533	hsa-miR-4420	CLIP-seq
MIRT1056534	hsa-miR-4434	CLIP-seq
MIRT1056535	hsa-miR-4436b-3p	CLIP-seq
MIRT2012976	hsa-miR-4450	CLIP-seq
MIRT1056538	hsa-miR-4486	CLIP-seq
MIRT1056539	hsa-miR-450b-5p	CLIP-seq
MIRT1056540	hsa-miR-4516	CLIP-seq
MIRT1056541	hsa-miR-452	CLIP-seq
MIRT1056543	hsa-miR-4531	CLIP-seq
MIRT1056545	hsa-miR-455-3p	CLIP-seq
MIRT1056547	hsa-miR-4638-3p	CLIP-seq
MIRT2245229	hsa-miR-4640-5p	CLIP-seq
MIRT1056548	hsa-miR-4652-5p	CLIP-seq
MIRT1056549	hsa-miR-4662a-3p	CLIP-seq
MIRT1056550	hsa-miR-4668-3p	CLIP-seq
MIRT1056551	hsa-miR-4676-3p	CLIP-seq
MIRT1056552	hsa-miR-4682	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT2245230	hsa-miR-4712-5p	CLIP-seq
MIRT1056555	hsa-miR-4717-5p	CLIP-seq
MIRT2245231	hsa-miR-4726-5p	CLIP-seq
MIRT1056556	hsa-miR-4731-3p	CLIP-seq
MIRT1056557	hsa-miR-4739	CLIP-seq
MIRT1056558	hsa-miR-4756-3p	CLIP-seq
MIRT1056559	hsa-miR-4756-5p	CLIP-seq
MIRT1056560	hsa-miR-4776-3p	CLIP-seq
MIRT1056561	hsa-miR-4789-5p	CLIP-seq
MIRT1056562	hsa-miR-4801	CLIP-seq
MIRT1056563	hsa-miR-484	CLIP-seq
MIRT1056564	hsa-miR-506	CLIP-seq
MIRT1056565	hsa-miR-507	CLIP-seq
MIRT1056567	hsa-miR-539	CLIP-seq
MIRT1056568	hsa-miR-543	CLIP-seq
MIRT1056569	hsa-miR-548a-5p	CLIP-seq
MIRT1056570	hsa-miR-548ab	CLIP-seq
MIRT1056571	hsa-miR-548ak	CLIP-seq
MIRT1056572	hsa-miR-548b-5p	CLIP-seq
MIRT1056573	hsa-miR-548c-3p	CLIP-seq
MIRT1056574	hsa-miR-548c-5p	CLIP-seq
MIRT1056575	hsa-miR-548d-5p	CLIP-seq
MIRT1056577	hsa-miR-548h	CLIP-seq
MIRT1056578	hsa-miR-548i	CLIP-seq
MIRT1056579	hsa-miR-548j	CLIP-seq
MIRT1056580	hsa-miR-548k	CLIP-seq
MIRT1056581	hsa-miR-548l	CLIP-seq
MIRT1056582	hsa-miR-548w	CLIP-seq
MIRT1056583	hsa-miR-548y	CLIP-seq
MIRT1056584	hsa-miR-557	CLIP-seq
MIRT1056585	hsa-miR-559	CLIP-seq
MIRT1056587	hsa-miR-580	CLIP-seq
MIRT1056588	hsa-miR-589	CLIP-seq
MIRT1056589	hsa-miR-605	CLIP-seq
MIRT1056590	hsa-miR-612	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056596	hsa-miR-660	CLIP-seq
MIRT2245232	hsa-miR-770-5p	CLIP-seq
MIRT1056597	hsa-miR-891b	CLIP-seq
MIRT1056598	hsa-miR-920	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056487	hsa-miR-2110	CLIP-seq
MIRT1056489	hsa-miR-2392	CLIP-seq
MIRT1056502	hsa-miR-3144-5p	CLIP-seq
MIRT1056503	hsa-miR-3150a-3p	CLIP-seq
MIRT1056510	hsa-miR-3191	CLIP-seq
MIRT2245229	hsa-miR-4640-5p	CLIP-seq
MIRT1056548	hsa-miR-4652-5p	CLIP-seq
MIRT2245231	hsa-miR-4726-5p	CLIP-seq
MIRT1056468	hsa-miR-1200	CLIP-seq
MIRT1056469	hsa-miR-1208	CLIP-seq
MIRT1056470	hsa-miR-1231	CLIP-seq
MIRT1056471	hsa-miR-124	CLIP-seq
MIRT1056472	hsa-miR-1273e	CLIP-seq
MIRT1056473	hsa-miR-1273g	CLIP-seq
MIRT1056475	hsa-miR-1285	CLIP-seq
MIRT1056476	hsa-miR-1287	CLIP-seq
MIRT1056478	hsa-miR-1321	CLIP-seq
MIRT1056479	hsa-miR-146a	CLIP-seq
MIRT1056480	hsa-miR-146b-5p	CLIP-seq
MIRT1056481	hsa-miR-1910	CLIP-seq
MIRT1056482	hsa-miR-1914	CLIP-seq
MIRT1056490	hsa-miR-2467-3p	CLIP-seq
MIRT1056492	hsa-miR-298	CLIP-seq
MIRT1056493	hsa-miR-299-3p	CLIP-seq
MIRT1056494	hsa-miR-3120-5p	CLIP-seq
MIRT1056495	hsa-miR-3121-5p	CLIP-seq
MIRT1056497	hsa-miR-3126-3p	CLIP-seq
MIRT1056499	hsa-miR-3134	CLIP-seq
MIRT1056500	hsa-miR-3135b	CLIP-seq
MIRT1056501	hsa-miR-3143	CLIP-seq
MIRT1056502	hsa-miR-3144-5p	CLIP-seq
MIRT1056504	hsa-miR-3155	CLIP-seq
MIRT1056505	hsa-miR-3155b	CLIP-seq
MIRT1056506	hsa-miR-3162-5p	CLIP-seq
MIRT1056507	hsa-miR-3176	CLIP-seq
MIRT1056508	hsa-miR-3187-5p	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056515	hsa-miR-3616-3p	CLIP-seq
MIRT1056523	hsa-miR-378g	CLIP-seq
MIRT1056527	hsa-miR-3922-3p	CLIP-seq
MIRT1056529	hsa-miR-4258	CLIP-seq
MIRT1056530	hsa-miR-4261	CLIP-seq
MIRT1056532	hsa-miR-4325	CLIP-seq
MIRT1056534	hsa-miR-4434	CLIP-seq
MIRT1056535	hsa-miR-4436b-3p	CLIP-seq
MIRT1056536	hsa-miR-4438	CLIP-seq
MIRT1056538	hsa-miR-4486	CLIP-seq
MIRT1056540	hsa-miR-4516	CLIP-seq
MIRT1056541	hsa-miR-452	CLIP-seq
MIRT1056543	hsa-miR-4531	CLIP-seq
MIRT1056544	hsa-miR-4534	CLIP-seq
MIRT1056545	hsa-miR-455-3p	CLIP-seq
MIRT1056546	hsa-miR-4633-3p	CLIP-seq
MIRT1056547	hsa-miR-4638-3p	CLIP-seq
MIRT1056551	hsa-miR-4676-3p	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT1056556	hsa-miR-4731-3p	CLIP-seq
MIRT1056557	hsa-miR-4739	CLIP-seq
MIRT1056559	hsa-miR-4756-5p	CLIP-seq
MIRT1056560	hsa-miR-4776-3p	CLIP-seq
MIRT1056561	hsa-miR-4789-5p	CLIP-seq
MIRT1056562	hsa-miR-4801	CLIP-seq
MIRT1056563	hsa-miR-484	CLIP-seq
MIRT1056564	hsa-miR-506	CLIP-seq
MIRT1056566	hsa-miR-516b	CLIP-seq
MIRT1056567	hsa-miR-539	CLIP-seq
MIRT1056568	hsa-miR-543	CLIP-seq
MIRT1056586	hsa-miR-563	CLIP-seq
MIRT1056587	hsa-miR-580	CLIP-seq
MIRT1056588	hsa-miR-589	CLIP-seq
MIRT1056590	hsa-miR-612	CLIP-seq
MIRT1056591	hsa-miR-626	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056595	hsa-miR-659	CLIP-seq
MIRT1056468	hsa-miR-1200	CLIP-seq
MIRT1056469	hsa-miR-1208	CLIP-seq
MIRT1056470	hsa-miR-1231	CLIP-seq
MIRT1056471	hsa-miR-124	CLIP-seq
MIRT1056472	hsa-miR-1273e	CLIP-seq
MIRT1056475	hsa-miR-1285	CLIP-seq
MIRT1056476	hsa-miR-1287	CLIP-seq
MIRT1056478	hsa-miR-1321	CLIP-seq
MIRT1056479	hsa-miR-146a	CLIP-seq
MIRT1056480	hsa-miR-146b-5p	CLIP-seq
MIRT1056481	hsa-miR-1910	CLIP-seq
MIRT1056482	hsa-miR-1914	CLIP-seq
MIRT1056490	hsa-miR-2467-3p	CLIP-seq
MIRT1056492	hsa-miR-298	CLIP-seq
MIRT1056494	hsa-miR-3120-5p	CLIP-seq
MIRT1056495	hsa-miR-3121-5p	CLIP-seq
MIRT1056497	hsa-miR-3126-3p	CLIP-seq
MIRT1056499	hsa-miR-3134	CLIP-seq
MIRT1056500	hsa-miR-3135b	CLIP-seq
MIRT1056501	hsa-miR-3143	CLIP-seq
MIRT1056504	hsa-miR-3155	CLIP-seq
MIRT1056505	hsa-miR-3155b	CLIP-seq
MIRT1056506	hsa-miR-3162-5p	CLIP-seq
MIRT1056507	hsa-miR-3176	CLIP-seq
MIRT1056508	hsa-miR-3187-5p	CLIP-seq
MIRT1056509	hsa-miR-3190	CLIP-seq
MIRT1056511	hsa-miR-3200-5p	CLIP-seq
MIRT1056514	hsa-miR-3607-3p	CLIP-seq
MIRT1056515	hsa-miR-3616-3p	CLIP-seq
MIRT1056518	hsa-miR-3686	CLIP-seq
MIRT1056523	hsa-miR-378g	CLIP-seq
MIRT1056527	hsa-miR-3922-3p	CLIP-seq
MIRT1056529	hsa-miR-4258	CLIP-seq
MIRT1056530	hsa-miR-4261	CLIP-seq
MIRT1056532	hsa-miR-4325	CLIP-seq
MIRT1056534	hsa-miR-4434	CLIP-seq
MIRT1056535	hsa-miR-4436b-3p	CLIP-seq
MIRT1056536	hsa-miR-4438	CLIP-seq
MIRT1056537	hsa-miR-4469	CLIP-seq
MIRT1056538	hsa-miR-4486	CLIP-seq
MIRT1056540	hsa-miR-4516	CLIP-seq
MIRT1056541	hsa-miR-452	CLIP-seq
MIRT1056543	hsa-miR-4531	CLIP-seq
MIRT1056544	hsa-miR-4534	CLIP-seq
MIRT1056545	hsa-miR-455-3p	CLIP-seq
MIRT1056546	hsa-miR-4633-3p	CLIP-seq
MIRT1056547	hsa-miR-4638-3p	CLIP-seq
MIRT1056551	hsa-miR-4676-3p	CLIP-seq
MIRT1056552	hsa-miR-4682	CLIP-seq
MIRT1056553	hsa-miR-4685-5p	CLIP-seq
MIRT1056554	hsa-miR-4704-5p	CLIP-seq
MIRT1056556	hsa-miR-4731-3p	CLIP-seq
MIRT1056557	hsa-miR-4739	CLIP-seq
MIRT1056559	hsa-miR-4756-5p	CLIP-seq
MIRT1056560	hsa-miR-4776-3p	CLIP-seq
MIRT1056561	hsa-miR-4789-5p	CLIP-seq
MIRT1056562	hsa-miR-4801	CLIP-seq
MIRT1056563	hsa-miR-484	CLIP-seq
MIRT1056564	hsa-miR-506	CLIP-seq
MIRT1056566	hsa-miR-516b	CLIP-seq
MIRT1056567	hsa-miR-539	CLIP-seq
MIRT1056568	hsa-miR-543	CLIP-seq
MIRT1056587	hsa-miR-580	CLIP-seq
MIRT1056588	hsa-miR-589	CLIP-seq
MIRT1056590	hsa-miR-612	CLIP-seq
MIRT1056591	hsa-miR-626	CLIP-seq
MIRT1056593	hsa-miR-642a	CLIP-seq
MIRT1056594	hsa-miR-642b	CLIP-seq
MIRT1056595	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IDA	14985082
GO:0005515	Function	Protein binding	IPI	14594798, 16189514, 18006506, 21516116, 22366786, 23414517, 25036637, 25416956, 26496610, 28144995, 28514442, 31273097, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19464326
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19464326, 28144995
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0034620	Process	Cellular response to unfolded protein	IBA
GO:0034620	Process	Cellular response to unfolded protein	IEA
GO:0034620	Process	Cellular response to unfolded protein	IMP	18006506
GO:0042802	Function	Identical protein binding	IPI	14594798
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	18006506
GO:0101031	Component	Protein folding chaperone complex	IBA
GO:0101031	Component	Protein folding chaperone complex	IDA	18006506
GO:1905337	Process	Positive regulation of aggrephagy	IMP	18006506

Other IDs

• MIM: 608014
• HGNC: 30171
• e!Ensembl: ENSG00000152137

Protein

• UniProt ID: Q9UJY1
• Protein name: Heat shock protein beta-8 (HspB8) (Alpha-crystallin C chain) (E2-induced gene 1 protein) (Heat shock protein family B member 8) (Protein kinase H11) (Small stress protein-like protein HSP22)
• Protein function: Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Displays temperature-dependent chaperone activity. {ECO:0000250|U
• PDB: 8S7A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00011	HSP20	93 → 180	Hsp20/alpha crystallin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart. {ECO:0000269|PubMed:11470154}.
• Sequence:

  MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAW
  PGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVE
  VSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSPEGLLIIEAPQVPPYSTFGES
  SFNNELPQDSQEVTCT

• Sequence length: 196

Pathways

Reactome:

HSF1-dependent transactivation

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	Pathogenic	rs104894345	RCV000192250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2L	Likely pathogenic; Pathogenic	rs2500054710, rs104894351, rs104894345, rs2500054682, rs1565929090, rs1954727878	RCV002290198 RCV001216811 RCV000002737 RCV002472046 RCV000678501 RCV001249293	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal myopathy	Likely pathogenic	rs1565930588	RCV000708586	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPB8-related neuromuscular disorder	Likely pathogenic; Pathogenic	rs1954727678	RCV004004919	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, autophagic vacuolar, infantile-onset	Likely pathogenic; Pathogenic	rs2500054710	RCV004587340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, myofibrillar, 13, with rimmed vacuoles	Likely pathogenic; Pathogenic	rs2500054710, rs1954727878, rs1954727678, rs1954727159	RCV005055397 RCV005055453 RCV005235551 RCV005055454	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 2A	Pathogenic; Likely pathogenic	rs104894345, rs104894351, rs1565929080, rs1954727678	RCV000002735 RCV000002736 RCV000678500 RCV001254712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2L	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL AXONAL MOTOR NEUROPATHY, MYOFIBRILLAR MYOPATHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MUSCULAR DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal spinal muscular atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ 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
HSPB8-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 46	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT	—	ClinGen, ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JERASH TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACUOLAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alexander Disease	Alexander Disease	BEFREE	29425965		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	16485107		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20570967, 27466192, 31152038		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31152038	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30535427, 31534311		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30535427, 31534311		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36934244	Inhibit	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	16485107		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16709864		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2L	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	39736019	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21884644, 28060751, 29345254		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18229450, 28060751, 29345254, 30596229	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	26490709, 28680390		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33885248	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28456666	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	LHGDN	16485107		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	16485107		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39736019	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	16086267		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	16155736, 16935933, 18832141, 20157854, 22595202, 23796487, 28747872, 28969372, 29029362		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	BEFREE	18832141		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)	Charcot-Marie-Tooth Disease	BEFREE	22595202		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	23389032		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)	Charcot-Marie-Tooth Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)	Charcot-Marie-Tooth Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 2I	Charcot-Marie-Tooth disease	BEFREE	22595202		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34606781	Associate	★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	31273254	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29425965		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26694816	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30640127		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 2	Distal Hereditary Motor Neuronopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	17663003, 20157854, 21985219, 28000086, 35328016, 36854646	Associate	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy, Type II	Distal Hereditary Motor Neuronopathy	BEFREE	11851982, 12090300, 15122253, 1517763, 16935933, 18832141, 21985219, 8817349, 9058425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Hereditary Motor Neuropathy, Type II	Distal Hereditary Motor Neuronopathy	ORPHANET_DG	15122253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	26718575, 28780615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	GENOMICS_ENGLAND_DG	26718575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Muscular Dystrophies	Distal Muscular Dystrophy	CLINVAR_DG	26976520, 28501893, 29029362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Myopathies	Distal myopathy	Pubtator	26718575	Associate	★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	16485107		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21678403		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21678403	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21678403		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33885248	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	21914495	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	21914495		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	22176143, 29341343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	18952241, 26718575		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	35328016	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30640127		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG	26976520, 28501893, 29029362		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	31047988		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21914495		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	CLINVAR_DG	26976520, 28501893, 29029362		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28456666		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21914495		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21914495	Associate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	20858900		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21884644, 28060751, 29345254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16077921, 31273254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24804817		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24804817, 29555102		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11085516, 18229450		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17033167, 17173073		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17173073, 19798049, 22898869		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17173073, 36400750	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30640127		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20157854		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20157854	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26694816	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30014472		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30014472	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG	26976520, 28501893, 29029362		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21914495		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	26718575	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	27389816, 29029362		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG	26976520, 28501893, 29029362		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28780615, 28969372, 29405094		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21914495, 22898869, 24804817, 28456666		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21329698	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17304582, 22023611		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30071537		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36574942	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20699640, 28608264, 28780615, 29425965, 29555102		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	15879436, 16949546, 26718575, 29029362, 29555102		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	26718575, 37411010	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type I	Distal hereditary motor neuropathy	Pubtator	26718575	Associate	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	17663003	Associate	★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	Distal Hereditary Motor Neuronopathy	UNIPROT_DG	15122253, 28144995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	Distal Hereditary Motor Neuronopathy	GENOMICS_ENGLAND_DG	15122253, 23389032, 26718575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	Distal Hereditary Motor Neuronopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA	Distal Hereditary Motor Neuronopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	1517763, 15296780		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	18229450		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	10777663, 16048837, 16949546, 20157854, 21985219, 22595202, 26718575, 28144995, 28780615, 28969372, 29029362		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	CLINVAR_DG	26976520, 28501893, 29029362		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20157854, 26718575, 35328016	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20858900, 27567740, 28780615		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20858900, 28780615		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Presenile dementia	Senile Dementia	BEFREE	29425965		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16077921, 31273254		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32264916	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16709864, 18381796		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16709864		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	12832417	Inhibit	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	16485107		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic Paraplegia	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic paraplegia	Pubtator	17663003	Associate	★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	ORPHANET_DG	15122253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33456497	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24804817		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39736019	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	26718575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vacuolar myopathy	Vacuolar myopathy	Pubtator	26718575	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vacuolar Neuromyopathy	Vacuolar neuromyopathy	Pubtator	36854646	Associate	★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	26718575		★☆☆☆☆ Found in Text Mining only