Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8291
Gene name	Dysferlin
Gene symbol	DYSF
Synonyms (NCBI Gene)	FER1L1LGMD2BLGMDR2MMD1
Chromosome	2
Chromosome location	2p13.2
Summary	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events,

391

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937581	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34061568	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs34387018	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs34997054	G>A	Benign-likely-benign, likely-pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant
rs61746816	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs76086153	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs112007817	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs114986640	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs115407852	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs115849497	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116733194	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs121908953	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121908954	A>G	Benign-likely-benign, not-provided, pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs121908955	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908956	C>A,G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908957	TG>AT	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908958	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908959	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs121908960	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908961	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121908962	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121908963	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137855767	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs138111360	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs138268837	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs138654170	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139258703	C>A,G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs139529811	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs139754493	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs139879284	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs139983909	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs140108514	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs140667960	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140809078	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141137410	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs141497053	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141720146	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs141818764	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs141867897	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs142301132	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142404822	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142483266	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs142769942	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs143762717	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs144636654	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs144936357	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs145007061	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs145272777	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs145412880	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs146687581	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs146970014	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs147244033	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147483765	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs148055736	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs148858485	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs148860301	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs149087116	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs149827237	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149979662	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150093305	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150355624	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150877497	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs151268930	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151276652	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs151317754	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs180970066	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183489578	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs185350547	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs185596534	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs189923208	G>A	Pathogenic	Splice acceptor variant
rs191337920	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs191746041	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs199543257	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs199608017	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199870606	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199954546	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs199955501	T>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200916654	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200957354	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs200970855	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201049092	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201070766	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201191038	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201239189	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201319864	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs201476613	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201592500	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201869739	G>A	Pathogenic	Splice donor variant
rs201890095	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202044973	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs202123283	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs202218890	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368142107	G>A,C,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs369607332	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs370872013	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs370874727	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs371686795	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373098428	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant
rs373328706	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs373585652	C>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs374489513	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374934430	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs375160101	C>A,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs375485030	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs376293526	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs377056951	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs377735262	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123763	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Splice donor variant
rs398123764	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123765	T>C	Pathogenic	Splice donor variant
rs398123767	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123768	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123769	A>G	Pathogenic	Splice acceptor variant
rs398123770	G>A	Pathogenic	Intron variant, splice acceptor variant
rs398123771	T>A	Pathogenic	Splice donor variant
rs398123772	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs398123773	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123774	GGAGG>-	Pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs398123776	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123777	AGACC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123778	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123780	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123781	TG>AA	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant, stop gained
rs398123782	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123783	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123784	CC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123786	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs398123787	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123789	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs398123790	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs398123791	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs398123792	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs398123793	G>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123794	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398123795	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123796	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123797	CAGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123798	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123799	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123800	G>C	Pathogenic	Splice donor variant
rs398123802	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs530181166	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs534331009	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs546679270	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs549673939	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs555206040	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs566381009	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs577921112	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs727503909	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs727503911	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs727503912	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs727503915	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745891180	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant
rs746243052	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs746315830	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs746480529	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs746873768	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs747289205	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs748159785	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748542672	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs750028300	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs751473506	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs752479889	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753711667	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs753861836	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant
rs755103680	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs755849745	GACA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756118312	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756328339	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756689063	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757917335	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758107024	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs758180890	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant, non coding transcript variant, stop gained
rs758944159	T>A,C	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs759939755	T>A,C	Likely-pathogenic	Splice donor variant
rs762226707	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs762258343	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs763198861	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs763674597	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766016391	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766341386	TT>-,TTT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766433603	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant
rs766891289	C>A,G,T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs766936914	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs767049254	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs768425085	->AGAGTGC	Pathogenic, uncertain-significance	Intron variant, non coding transcript variant, splice donor variant, coding sequence variant
rs768546511	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769289729	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs769721856	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs769873428	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs770905160	C>G,T	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs771257070	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs772066982	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs773386253	G>A	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs773837400	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs774047700	A>-	Pathogenic	Splice acceptor variant
rs774464702	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs776472879	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777167646	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs777216777	G>T	Pathogenic	Splice donor variant
rs778065845	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778092738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs778185705	C>A,T	Uncertain-significance, pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs778686949	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs779407815	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779969348	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs779987458	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs786200896	GCCCG>CCCC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786200897	A>G	Pathogenic	Splice acceptor variant
rs786200898	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs786205081	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786205082	->TCCCACAGACCTACTGTGTGTAC	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant
rs786205083	A>G	Pathogenic	Intron variant
rs786205084	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs786205524	G>A	Likely-pathogenic	Splice acceptor variant
rs786205525	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786205632	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727343	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727534	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727636	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794727851	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225019	->GGACTTGCCGCAGAG	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs863225020	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225021	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs866823474	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886039573	T>A	Likely-pathogenic, pathogenic	Intron variant
rs886042091	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042093	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042095	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042110	G>C,T	Likely-pathogenic, pathogenic	Intron variant
rs886042318	->GAGTGAGC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042379	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042389	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042452	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042504	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042578	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042581	G>A	Pathogenic	Splice donor variant, non coding transcript variant
rs886042584	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886042590	T>G	Pathogenic	Splice donor variant
rs886042617	T>C	Pathogenic	Splice donor variant
rs886042632	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042633	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886042635	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042636	G>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042641	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042680	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042827	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042878	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886042879	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042951	T>C	Pathogenic	Splice donor variant
rs886042970	T>A	Pathogenic	Splice donor variant
rs886043145	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886043149	A>G	Pathogenic	Splice acceptor variant
rs886043170	G>A	Pathogenic	Splice acceptor variant
rs886043328	CA>-	Pathogenic	Splice acceptor variant, intron variant
rs886043342	C>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043489	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs886043884	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886043900	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886043901	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs886043964	A>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs886043966	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044131	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs886044258	G>A	Pathogenic	Splice donor variant
rs886044355	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044377	G>A	Likely-pathogenic	Splice donor variant
rs886044379	G>T	Pathogenic	Splice acceptor variant
rs886044381	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044386	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044390	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044410	C>G	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs886044411	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044422	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886044537	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs909564120	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs934428561	A>G	Pathogenic	Splice acceptor variant
rs1023002894	G>A	Pathogenic	Intron variant
rs1024524968	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1027145211	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1057516051	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519132	T>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057521141	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064794020	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1064797253	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1131691651	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131692158	G>A,C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1163488527	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1179051248	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1213965862	A>G	Likely-pathogenic	Splice acceptor variant
rs1230790473	C>G,T	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1236367931	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1259378167	A>G	Likely-pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1268594965	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1278864604	G>A	Likely-pathogenic	Splice donor variant
rs1285082850	C>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs1337417322	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1380642629	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1397221551	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1397263011	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1420930684	A>G	Pathogenic	Splice acceptor variant
rs1423123313	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1446214240	->GTT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, inframe insertion
rs1451269647	A>C,G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1456182703	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1459713589	T>C	Likely-pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1474151297	G>C	Pathogenic	Splice donor variant
rs1553370437	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376538	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1553376558	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553376691	G>A	Likely-pathogenic	Splice donor variant
rs1553377740	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553377764	T>A	Likely-pathogenic	Splice donor variant
rs1553381945	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553383144	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553408378	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553412826	T>C	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1553414413	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553415109	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553415211	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553415233	T>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553416039	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553416197	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553420738	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553420848	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422709	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553422723	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553495983	->CTAC	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553508863	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553518087	G>A	Likely-pathogenic	Splice acceptor variant
rs1553521017	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553521119	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522104	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522133	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553522730	A>G	Likely-pathogenic	Splice acceptor variant
rs1553522751	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553525756	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553531682	A>C	Likely-pathogenic	Splice acceptor variant
rs1553535902	G>A	Pathogenic	Splice donor variant
rs1553536007	G>A	Likely-pathogenic	Splice donor variant
rs1553537332	G>-	Likely-pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1553541329	C>AA	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553542142	A>G	Pathogenic	Splice acceptor variant
rs1553542704	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542773	->TTCT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543506	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553551006	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553553888	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553553943	T>A	Pathogenic	Splice donor variant
rs1553555585	G>T	Likely-pathogenic	Splice donor variant
rs1553556116	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558513494	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558583697	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558613592	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558708492	G>A	Likely-pathogenic	Splice donor variant
rs1558750788	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558771348	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558783870	->CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1558787893	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558817973	GCCCAACATGA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1559021086	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1559053603	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559065297	A>G	Likely-pathogenic	Splice acceptor variant
rs1559079887	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559100639	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559109621	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559141367	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559162681	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1559177278	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572994572	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573009747	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1573094617	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1573094789	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573100371	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1573138313	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573138336	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1573671276	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573704236	G>C	Pathogenic	Intron variant
rs1573743003	GCTCAGGAGCGCATGAAGGAATCGTATTTGGTTTTCTTTGTAGCTGGAG>A	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1573744795	->TTGCCGCAGAGTGC	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs1573928936	->TGGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573943246	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573949142	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574016452	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574097294	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574264671	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574277160	CAGCCAGCCGTCGGGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574340403	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574340607	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574341049	G>-	Likely-pathogenic	Intron variant
rs1574354166	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574354515	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
MIRT949882	hsa-miR-1252	CLIP-seq
MIRT949883	hsa-miR-1275	CLIP-seq
MIRT949884	hsa-miR-3175	CLIP-seq
MIRT949885	hsa-miR-3940-5p	CLIP-seq
MIRT949886	hsa-miR-4434	CLIP-seq
MIRT949887	hsa-miR-4507	CLIP-seq
MIRT949888	hsa-miR-4516	CLIP-seq
MIRT949889	hsa-miR-4525	CLIP-seq
MIRT949890	hsa-miR-4665-5p	CLIP-seq
MIRT949891	hsa-miR-4723-5p	CLIP-seq
MIRT949892	hsa-miR-625	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002280	Process	Monocyte activation involved in immune response	IEA
GO:0002280	Process	Monocyte activation involved in immune response	IMP	18276788
GO:0002281	Process	Macrophage activation involved in immune response	IEA
GO:0002281	Process	Macrophage activation involved in immune response	IMP	18276788
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	24239457
GO:0005515	Function	Protein binding	IPI	17185750, 23414517, 24687993, 32296183
GO:0005543	Function	Phospholipid binding	IDA	24239457
GO:0005544	Function	Calcium-dependent phospholipid binding	IMP	11959863
GO:0005768	Component	Endosome	IDA	20595382
GO:0005769	Component	Early endosome	IDA	20595382
GO:0005770	Component	Late endosome	IDA	20595382
GO:0005886	Component	Plasma membrane	IDA	20595382, 24239457, 26707827
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10496277
GO:0008289	Function	Lipid binding	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0030139	Component	Endocytic vesicle	IDA	20595382
GO:0030315	Component	T-tubule	IDA	17185750
GO:0030315	Component	T-tubule	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IDA	26707827
GO:0034451	Component	Centriolar satellite	IDA
GO:0034451	Component	Centriolar satellite	IEA
GO:0042383	Component	Sarcolemma	IDA	17185750
GO:0042383	Component	Sarcolemma	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0050765	Process	Negative regulation of phagocytosis	IEA
GO:0050765	Process	Negative regulation of phagocytosis	IMP	18276788
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
603009	3097	ENSG00000135636

O75923

Protein name

Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)

Protein function

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by me

PDB

4CAH , 4CAI , 4IHB , 4IQH , 7JOF , 7K6B , 7KRB , 9B8K , 9B8L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	1 → 103	C2 domain	Domain
PF00168	C2	220 → 323	C2 domain	Domain
PF08151	FerI	324 → 374	FerI (NUC094) domain	Domain
PF00168	C2	379 → 496	C2 domain	Domain
PF08165	FerA	695 → 759	FerA (NUC095) domain	Domain
PF08150	FerB	786 → 859	FerB (NUC096) domain	Domain
PF00168	C2	1152 → 1260	C2 domain	Domain
PF00168	C2	1333 → 1439	C2 domain	Domain
PF00168	C2	1578 → 1678	C2 domain	Domain
PF00168	C2	1812 → 1944	C2 domain	Domain
PF16165	Ferlin_C	1971 → 2075	Ferlin C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lo

Sequence

MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLD
QGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQ
VSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGP
GAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQVIEGRQLPGVNIKPV
VKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSED
KEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV
EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYL
SMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYT
ELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVV
LSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGC
SQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALEQAEDWLLRLR
ALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPM
EKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRL
PGGQWIYMSDNYTDVNGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPP
ERKPKHWVPAEKMYYTHRRRRWVRLRRRDLSQMEALKRHRQAEAEGEGWEYASLFGWKFH
LEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSEDSMSVSTLSFGVNRP
TISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWD
QTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPL
TRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYM
VPQNIKPALQRTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNF
DICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSP
QGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFD
TLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAI
PMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIP
CTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL
PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPN
PHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPP
FNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRS
LGGEGNFNWRFIFPFDYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDD
FLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLFEQKTVKGWWPCVAEEGEKKI
LAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTSPYKTMKFILW
RRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS

Sequence length

2080

Interactions

View interactions

	Reactome
			Smooth Muscle Contraction

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)

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs398123802, rs2152682705, rs2152728763, rs2152760967, rs2152855822, rs1558584694, rs2152940909, rs2152971975, rs369607332, rs121908955, rs758107024	RCV001814050 RCV001814314 RCV001814403 RCV001814514 RCV001814573 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Absent muscle fiber dysferlin	Pathogenic	rs1553551006	RCV000626847	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Pathogenic; Likely pathogenic	rs370874727, rs2152728575, rs886044537	RCV005889935 RCV005926827 RCV005895898	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs398123774, rs140108514, rs398123782, rs398123787, rs398123788, rs398123789, rs141704244, rs398123793 View all (134 more)	RCV005600649 RCV006252429 RCV006445495 RCV006252430 RCV006249585 View all (153 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2B	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs377735262, rs398123773, rs140108514, rs398123777, rs398123781, rs398123782, rs398123786, rs398123787 View all (324 more)	RCV000174082 RCV001273959 RCV000174526 RCV000174882 RCV000174883 View all (343 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs140108514	RCV005886431	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal lower limb muscle weakness	Pathogenic; Likely pathogenic	rs1553551006, rs1573138313	RCV000626847 RCV000850339	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal myopathy with anterior tibial onset	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs202044973, rs398123770, rs377735262, rs398123773, rs140108514, rs398123777, rs398123781, rs398123782, rs398123786, rs398123787, rs398123789, rs141704244, rs398123794 View all (170 more)	RCV000763501 RCV005025134 RCV005025135 RCV002477229 RCV005031566 View all (183 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSF-related disorder	Pathogenic; Likely pathogenic	rs398123764, rs398123765, rs377735262, rs140108514, rs141704244, rs398123794, rs398123797, rs727503911, rs1559186257, rs774047700, rs786205081, rs758180890, rs202218890, rs766433603, rs892133012 View all (4 more)	RCV003415847 RCV005867871 RCV004549502 RCV003415848 RCV004549503 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Foot dorsiflexor weakness	Pathogenic	rs1553551006	RCV000626847	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs2467168010	RCV005871216	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs751473506	RCV005901440	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Miyoshi muscular dystrophy 1	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123770, rs398123772, rs377735262, rs398123773, rs140108514, rs398123777, rs398123780, rs398123781, rs398123782, rs398123786 View all (351 more)	RCV000763501 RCV003466977 RCV003466978 RCV003466979 RCV003466980 View all (369 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy	Pathogenic	rs1324430830	RCV001775503	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin	Pathogenic; Likely pathogenic	rs398123763, rs398123764, rs398123765, rs202044973, rs398123767, rs398123768, rs398123770, rs398123772, rs377735262, rs398123773, rs140108514, rs398123776, rs398123777, rs398123781, rs398123782 View all (433 more)	RCV000700616 RCV001050376 RCV003574709 RCV000698361 RCV002515771 View all (476 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic adenocarcinoma	Pathogenic	rs766433603	RCV005895877	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs140108514	RCV005886430	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroneal muscle atrophy	Pathogenic	rs1553551006	RCV000626847	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal muscle weakness	Pathogenic	rs1057516051	RCV000408636	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1558708492	RCV005897273	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (53)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Arthralgia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY PARADAS TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY, PARADAS TYPE	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSFERLIN-RELATED LIMB-GIRDLE MUSCULAR DYSTROPHY R2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSFERLINOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myopathic abnormalities	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy, recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle weakness	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myalgia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NON-ALCOHOLIC STEATOHEPATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (117)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult type dermatomyositis	Dermatomyositis	BEFREE	30907425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpha-Sarcoglycanopathies	Limb-girdle muscular dystrophy	BEFREE	10069710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom Syndrome	BEFREE	26077327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom syndrome	Pubtator	26077327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	18306167, 20544924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior Compartment Syndrome	Anterior compartment syndrome	Pubtator	19528035, 22318734, 26444858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34510493	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	12410383, 16183658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachial Plexus Neuropathies	Brachial plexus neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	40244055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	16258658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29385134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17828519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	17828519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19380584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31377166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	21816046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	17303423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital myopathy, Paradas type	Congenital Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	31520263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31377166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	20595382, 21412170, 28904177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	16258658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31956234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	27666772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	23243261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30907425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	10995573, 11134403, 12734659, 12836053, 16116644, 16302276, 18974568, 19493611, 20145676, 21119217, 21522182, 23254335, 23663589, 23721401, 25046369, 27666772, 30171536, 31019989 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	LHGDN	12836053, 15477515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	27666772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy with anterior tibial onset	Distal Myopathy With Anterior Tibial Onset	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysferlin-related limb-girdle muscular dystrophy R2	Limb-girdle muscular dystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	CLINVAR_DG	10825360, 11053681, 12796534, 14678801, 15469449, 16010686, 16087766, 16100712, 16891820, 17070050, 17562833, 17698709, 17825554, 18276788, 18294055 View all (44 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysferlinopathy	Dysferlinopathy	BEFREE	11166162, 11402103, 12767493, 15254015, 15469449, 15677541, 16010686, 16087766, 16608842, 17614318, 17698709, 17825554, 18808059, 18853459, 19221801 View all (29 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysferlinopathy	Dysferlinopathy	Pubtator	12132520, 16608842, 16707852, 18974570, 19528035, 20544924, 20595382, 21173544, 21522182, 22194990, 22318734, 22468107, 22616201, 23243261, 23558685 View all (18 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysferlinopathy	Dysferlinopathy	Pubtator	28904177, 31861684, 33246442, 33518658	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	25198651, 29067661, 30171536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	17132147, 20145676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	31931849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31520263		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	31540302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10069710, 11665864, 17526799, 30028523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2F	Limb-girdle muscular dystrophy	BEFREE	10069710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy, type 2E	Limb-Girdle Muscular Dystrophy	BEFREE	10069710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	16797397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35864995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	19730931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27666772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	BEFREE	10196375, 10196377, 10766988, 10995573, 11053681, 11134403, 11231027, 11257469, 11468312, 11532985, 11665864, 11782994, 12734659, 12767493, 12796534 View all (58 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	UNIPROT_DG	10196377, 11134403, 11468312, 11959863, 12796534, 15116377, 15469449, 15477515, 15515206, 16010686, 16100712, 17287450, 18306167, 18853459, 9731526		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	CTD_human_DG	15535137, 17868276		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	GENOMICS_ENGLAND_DG	25821721, 25929793		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Miyoshi myopathy	Miyoshi Myopathy	BEFREE	10196375, 10196377, 10766988, 10995573, 11053681, 11134403, 11231027, 11257469, 11468312, 11532985, 11665864, 11782994, 12734659, 12767493, 12796534 View all (55 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Miyoshi Myopathy	ORPHANET_DG	18853459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Miyoshi Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Miyoshi Myopathy	CLINVAR_DG	27854218		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	38427757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16957579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37380766, 39493765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	10430828, 10607832, 10766988, 10787109, 11166162, 11257469, 11665864, 11731489, 12734659, 15469449, 16100712, 16183658, 16606933, 16705711, 17287450 View all (35 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	16606933, 16934466, 18641458, 18832576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10196375, 10825360, 11098285, 11468312, 11532985, 11665864, 14512171, 15066638, 15254015, 16023782, 16087766, 16100712, 16302276, 16608842, 16705711 View all (33 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	LHGDN	14512171, 16100712, 17554076, 17897828		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy congenital, merosin negative	Congenital Muscular Dystrophy	BEFREE	16183658, 30171536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	38057384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18392839, 20145676		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	Limb-Girdle Muscular Dystrophy	BEFREE	11532985, 21412170		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	10069710, 10196375, 10196377, 10825360, 10995573, 11053681, 11134403, 11166162, 11468312, 11532985, 11665864, 14560310, 14673575, 14678801, 15066638 View all (37 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	10196377, 11134403, 14678801, 15469449, 16010686, 16100712, 16705711, 16996541, 17185750, 17287450, 18306167, 18853459, 19084402, 9731526		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	11053681, 11468312, 11532985, 12471055, 12796534, 14678801, 15469449, 15827562, 15835269, 16010686, 16087766, 16100712, 16705711, 16891820, 16996541 View all (59 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	CTD_human_DG	15535137		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	25821721, 25929793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11198284, 11739845, 14678801, 16116644, 17825554, 19084402, 19154541, 19493611, 20373350, 20467328, 20535123, 20574037, 20886045, 21522182, 21820307 View all (11 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	LHGDN	16010686		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy Distal with Anterior Tibial Onset	Distal myopathy	Pubtator	20145676, 21522182, 26045819, 31019989, 36012197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	Distal Myopathy With Anterior Tibial Onset	BEFREE	19493611		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	Distal Myopathy With Anterior Tibial Onset	ORPHANET_DG	19493611		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	Distal Myopathy With Anterior Tibial Onset	GENOMICS_ENGLAND_DG	25821721, 25929793		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	Distal Myopathy With Anterior Tibial Onset	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	Distal Myopathy With Anterior Tibial Onset	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	14512171, 18276788, 18832576, 21060153, 28334824, 29799141, 30166241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	31046780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	14560310, 16183658, 18974555, 24846833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	21896784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28470677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28470677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroneal muscle atrophy	Peroneal muscle atrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	14512171, 18276788, 19730931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20667157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40244055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	32978841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rippling muscle disease	Rippling Muscle Disease	BEFREE	12666119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	10069710, 11665864, 30171536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathies	Pubtator	26916285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	23243261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	10069710, 30171536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	25706306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37854594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Welander Distal Myopathy	Welander Distal Myopathy	BEFREE	10482271, 12836053		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	11731489		★★★★★ ★☆☆☆☆ Found in Text Mining only

DYSF (dysferlin)