PLEC (plectin)

Gene

• Entrez ID: 5339
• Gene name: Plectin
• Gene symbol: PLEC
• Synonyms (NCBI Gene): EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain struct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2855760	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs2855765	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs2857824	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs34132016	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs34365303	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs35821434	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs62642462	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs74461721	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75857070	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs77303974	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs79489944	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs80338756	G>A,C,T	Pathogenic	Coding sequence variant, intron variant, missense variant, synonymous variant
rs111730406	C>G,T	Likely-pathogenic	Splice acceptor variant
rs113137721	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs137853160	G>A	Pathogenic	Stop gained, coding sequence variant
rs137853161	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs140191309	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143548638	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144242254	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs148465219	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150427959	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs181850748	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs182120395	G>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, missense variant, intron variant
rs184192014	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs184363750	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs185022156	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs185082202	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs186703073	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs186848953	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs187011732	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs188154081	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs188739870	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs189233521	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189256993	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs189859084	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs190470017	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs190789703	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193257576	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs199509259	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199612329	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, intron variant, coding sequence variant
rs199661077	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs199719299	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199721954	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199758196	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199843296	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199879193	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199968254	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199990259	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs200062782	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs200168705	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200176579	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200206105	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200231367	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200239963	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200289312	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200338374	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200383203	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200482255	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200488179	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200509064	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200589588	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200647397	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200715520	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs200722246	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200741156	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200774407	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200807583	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200814155	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200819891	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs200893203	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200898220	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200924154	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200949161	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs201030020	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201069314	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201098035	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs201102719	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201202488	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs201211875	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201278290	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, intron variant, coding sequence variant
rs201349099	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201369301	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201373953	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201416081	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201430180	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs201574539	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, intron variant, coding sequence variant
rs201655861	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201667254	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, synonymous variant, coding sequence variant
rs201737115	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201765507	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201818691	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201820569	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs201827413	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201867859	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201905804	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202116866	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs202132558	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs202135215	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs202153947	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202182619	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs367715805	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs368212208	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs368312695	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368317567	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs368318946	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs368326361	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368425406	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368886943	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs369013440	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369344419	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369363676	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369370495	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369497741	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs369621159	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369676162	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs369723574	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs369877618	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs369943756	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs370001506	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370168097	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, intron variant, coding sequence variant
rs370313601	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs370347438	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs370454085	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs370503466	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs370526712	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370574829	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371267446	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371271326	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371520192	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371565831	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs371672166	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371751108	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371751910	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs371763907	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs371818099	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs371882486	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371895113	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs372029672	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs372064842	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372233686	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs372256096	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372573622	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372799330	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs372832025	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs372840016	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs372843420	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372858742	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372942259	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373397279	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs373820763	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373863249	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373922545	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs373952777	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, intron variant, coding sequence variant
rs373958891	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374041678	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs374108886	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs374211586	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs374419983	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, intron variant, stop gained, missense variant
rs374517570	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs374590279	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374595008	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs374712759	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374790646	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, intron variant
rs375097273	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs375360480	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375465011	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, intron variant
rs375565604	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs375568532	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, intron variant
rs375587611	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, intron variant
rs375590561	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375593618	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs375598997	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375657597	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376058402	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs376081492	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376112916	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs376276993	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376374602	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs376387058	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376494828	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376665854	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376753842	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376777606	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376779580	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs377026986	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs377035218	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377039110	A>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377059744	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs377118309	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377125427	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs377150241	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377524932	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377610697	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs387906801	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant, stop gained
rs387906802	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs527947459	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs528031000	C>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs531535217	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs534269714	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs538589589	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs539190005	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs541134948	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs541271992	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs542567139	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs543422533	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs545266312	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs545715431	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs550994317	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs551187778	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs555044240	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs558031489	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs558224639	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs559510708	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs560896222	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs563719398	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs564072063	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs564245730	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs567558623	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs571497788	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs571894941	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs573424409	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs574482100	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs576688705	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs757589473	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs759030267	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs771101893	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs780337094	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs781832846	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781833947	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs781836500	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs781847274	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781876705	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781878105	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs781907409	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs781917029	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781929758	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781931836	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs781934861	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781946435	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs781989280	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs781998103	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782025071	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782033629	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782038506	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782048792	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782052487	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782073897	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782096761	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782107643	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs782114678	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782135892	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782156855	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782175030	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782180398	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782185897	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs782193445	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782202249	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782216573	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782216683	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782222671	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782244301	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782278045	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782278608	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs782326556	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782341043	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782370134	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782391508	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782420340	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782437578	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782488330	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782499772	G>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs782513203	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs782527499	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782527767	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782535880	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782571969	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs782581005	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782592963	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782605503	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782650176	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782692436	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782701313	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782710557	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782733038	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205251	->GGATCTCC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs786205252	GCCTCCTGG>-,GCCTCCTGGGCCTCCTGG	Uncertain-significance, pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs786205253	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs786205254	GCCGCGCC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs864309634	T>A	Pathogenic	Stop gained, coding sequence variant
rs864309635	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs864309671	TGACGGCCTCCTGG>-	Pathogenic	Splice donor variant, coding sequence variant
rs864309672	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs864309673	CATGCCGGC>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, genic upstream transcript variant, intron variant, inframe deletion
rs864309674	->C	Pathogenic	Frameshift variant, coding sequence variant
rs879255260	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041915	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044772	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs886044796	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044818	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044836	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs886044856	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044894	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs935096656	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs979599396	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs1002095432	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057517938	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057519155	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1060499581	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064797350	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1279778532	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1289830071	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1554674544	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554675388	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554681167	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554683108	GC>AA	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1554689309	AGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554689806	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554705813	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1554706146	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1554714095	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1554719990	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554724125	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564019780	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs1586813574	GCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586903449	TC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1587035726	->C	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004076	hsa-miR-7-5p	Microarray	19073608
MIRT023142	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT004076	hsa-miR-7-5p	Microarray	19073608
MIRT032043	hsa-miR-16-5p	Proteomics	18668040
MIRT040211	hsa-miR-615-3p	CLASH	23622248
MIRT039118	hsa-miR-769-3p	CLASH	23622248
MIRT492675	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT492674	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT492673	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT492672	hsa-miR-558	PAR-CLIP	23592263
MIRT492670	hsa-miR-4487	PAR-CLIP	23592263
MIRT492671	hsa-miR-574-5p	PAR-CLIP	23592263
MIRT492669	hsa-miR-3659	PAR-CLIP	23592263
MIRT492668	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492667	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT492666	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT492665	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT492664	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT492662	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT492663	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT492661	hsa-miR-4792	PAR-CLIP	23592263
MIRT492660	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT492659	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT492658	hsa-miR-4447	PAR-CLIP	23592263
MIRT492657	hsa-miR-4472	PAR-CLIP	23592263
MIRT492655	hsa-miR-6742-5p	PAR-CLIP	23592263
MIRT492656	hsa-miR-4658	PAR-CLIP	23592263
MIRT492654	hsa-miR-6790-5p	PAR-CLIP	23592263
MIRT492653	hsa-miR-3978	PAR-CLIP	23592263
MIRT492652	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT492651	hsa-miR-6796-5p	PAR-CLIP	23592263
MIRT492659	hsa-miR-3151-5p	PAR-CLIP	26701625
MIRT492673	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT492666	hsa-miR-328-5p	PAR-CLIP	26701625
MIRT492669	hsa-miR-3659	PAR-CLIP	26701625
MIRT492653	hsa-miR-3978	PAR-CLIP	26701625
MIRT492658	hsa-miR-4447	PAR-CLIP	26701625
MIRT492657	hsa-miR-4472	PAR-CLIP	26701625
MIRT492670	hsa-miR-4487	PAR-CLIP	26701625
MIRT492656	hsa-miR-4658	PAR-CLIP	26701625
MIRT492661	hsa-miR-4792	PAR-CLIP	26701625
MIRT492660	hsa-miR-491-5p	PAR-CLIP	26701625
MIRT492672	hsa-miR-558	PAR-CLIP	26701625
MIRT492671	hsa-miR-574-5p	PAR-CLIP	26701625
MIRT492655	hsa-miR-6742-5p	PAR-CLIP	26701625
MIRT492664	hsa-miR-6752-5p	PAR-CLIP	26701625
MIRT492654	hsa-miR-6790-5p	PAR-CLIP	26701625
MIRT492668	hsa-miR-6795-5p	PAR-CLIP	26701625
MIRT492651	hsa-miR-6796-5p	PAR-CLIP	26701625
MIRT492675	hsa-miR-6835-3p	PAR-CLIP	26701625
MIRT492662	hsa-miR-6842-5p	PAR-CLIP	26701625
MIRT492665	hsa-miR-6885-5p	PAR-CLIP	26701625
MIRT492667	hsa-miR-6887-5p	PAR-CLIP	26701625
MIRT492652	hsa-miR-7109-5p	PAR-CLIP	26701625
MIRT492663	hsa-miR-7110-5p	PAR-CLIP	26701625
MIRT492674	hsa-miR-875-3p	PAR-CLIP	26701625
MIRT023142	hsa-miR-124-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33330445
MIRT492675	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT492674	hsa-miR-875-3p	PAR-CLIP	23592263
MIRT492673	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT492672	hsa-miR-558	PAR-CLIP	23592263
MIRT492670	hsa-miR-4487	PAR-CLIP	23592263
MIRT492671	hsa-miR-574-5p	PAR-CLIP	23592263
MIRT492669	hsa-miR-3659	PAR-CLIP	23592263
MIRT492668	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT492667	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT492666	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT492665	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT492664	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT492662	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT492663	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT492661	hsa-miR-4792	PAR-CLIP	23592263
MIRT492660	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT492659	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT492658	hsa-miR-4447	PAR-CLIP	23592263
MIRT492657	hsa-miR-4472	PAR-CLIP	23592263
MIRT492655	hsa-miR-6742-5p	PAR-CLIP	23592263
MIRT492656	hsa-miR-4658	PAR-CLIP	23592263
MIRT492654	hsa-miR-6790-5p	PAR-CLIP	23592263
MIRT492653	hsa-miR-3978	PAR-CLIP	23592263
MIRT492652	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT492651	hsa-miR-6796-5p	PAR-CLIP	23592263
MIRT1240553	hsa-miR-1207-5p	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240555	hsa-miR-138	CLIP-seq
MIRT1240556	hsa-miR-1909	CLIP-seq
MIRT1240557	hsa-miR-2467-3p	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240559	hsa-miR-3064-5p	CLIP-seq
MIRT1240560	hsa-miR-3065-3p	CLIP-seq
MIRT1240561	hsa-miR-3135b	CLIP-seq
MIRT1240562	hsa-miR-3136-3p	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240564	hsa-miR-323-5p	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240566	hsa-miR-3657	CLIP-seq
MIRT1240567	hsa-miR-3678-3p	CLIP-seq
MIRT1240568	hsa-miR-3929	CLIP-seq
MIRT1240569	hsa-miR-4292	CLIP-seq
MIRT1240570	hsa-miR-4300	CLIP-seq
MIRT1240571	hsa-miR-4308	CLIP-seq
MIRT1240572	hsa-miR-4329	CLIP-seq
MIRT1240573	hsa-miR-4419b	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT1240576	hsa-miR-4446-3p	CLIP-seq
MIRT1240577	hsa-miR-4478	CLIP-seq
MIRT1240578	hsa-miR-4485	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240581	hsa-miR-4503	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240583	hsa-miR-4663	CLIP-seq
MIRT1240584	hsa-miR-4685-5p	CLIP-seq
MIRT1240585	hsa-miR-4763-3p	CLIP-seq
MIRT1240586	hsa-miR-4779	CLIP-seq
MIRT1240587	hsa-miR-4786-5p	CLIP-seq
MIRT1240588	hsa-miR-485-5p	CLIP-seq
MIRT1240589	hsa-miR-570	CLIP-seq
MIRT1240590	hsa-miR-639	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240592	hsa-miR-769-5p	CLIP-seq
MIRT1240593	hsa-miR-920	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240594	hsa-miR-1281	CLIP-seq
MIRT1240595	hsa-miR-1324	CLIP-seq
MIRT1240596	hsa-miR-193a-5p	CLIP-seq
MIRT1240597	hsa-miR-2110	CLIP-seq
MIRT1240598	hsa-miR-2861	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240599	hsa-miR-3170	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240600	hsa-miR-383	CLIP-seq
MIRT1240601	hsa-miR-4271	CLIP-seq
MIRT1240602	hsa-miR-4286	CLIP-seq
MIRT1240603	hsa-miR-4318	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT1240578	hsa-miR-4485	CLIP-seq
MIRT1240604	hsa-miR-4488	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240581	hsa-miR-4503	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240605	hsa-miR-4508	CLIP-seq
MIRT1240606	hsa-miR-4512	CLIP-seq
MIRT1240607	hsa-miR-4697-5p	CLIP-seq
MIRT1240608	hsa-miR-4725-3p	CLIP-seq
MIRT1240609	hsa-miR-4747-5p	CLIP-seq
MIRT1240589	hsa-miR-570	CLIP-seq
MIRT1240610	hsa-miR-661	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240611	hsa-miR-1184	CLIP-seq
MIRT1240612	hsa-miR-1205	CLIP-seq
MIRT1240613	hsa-miR-1231	CLIP-seq
MIRT1240614	hsa-miR-124	CLIP-seq
MIRT1240595	hsa-miR-1324	CLIP-seq
MIRT1240615	hsa-miR-199a-5p	CLIP-seq
MIRT1240616	hsa-miR-199b-5p	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240617	hsa-miR-3120-5p	CLIP-seq
MIRT1240561	hsa-miR-3135b	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240618	hsa-miR-3158-5p	CLIP-seq
MIRT1240619	hsa-miR-3184	CLIP-seq
MIRT1240620	hsa-miR-3202	CLIP-seq
MIRT1240621	hsa-miR-320e	CLIP-seq
MIRT1240622	hsa-miR-331-3p	CLIP-seq
MIRT1240623	hsa-miR-3614-5p	CLIP-seq
MIRT1240624	hsa-miR-3622a-5p	CLIP-seq
MIRT1240625	hsa-miR-3689a-3p	CLIP-seq
MIRT1240626	hsa-miR-3689c	CLIP-seq
MIRT1240627	hsa-miR-3690	CLIP-seq
MIRT1240628	hsa-miR-378	CLIP-seq
MIRT1240629	hsa-miR-378b	CLIP-seq
MIRT1240630	hsa-miR-378c	CLIP-seq
MIRT1240631	hsa-miR-378d	CLIP-seq
MIRT1240632	hsa-miR-378e	CLIP-seq
MIRT1240633	hsa-miR-378f	CLIP-seq
MIRT1240634	hsa-miR-378h	CLIP-seq
MIRT1240635	hsa-miR-378i	CLIP-seq
MIRT1240600	hsa-miR-383	CLIP-seq
MIRT1240636	hsa-miR-422a	CLIP-seq
MIRT1240637	hsa-miR-423-5p	CLIP-seq
MIRT1240638	hsa-miR-4283	CLIP-seq
MIRT1240639	hsa-miR-4302	CLIP-seq
MIRT1240571	hsa-miR-4308	CLIP-seq
MIRT1240640	hsa-miR-4423-3p	CLIP-seq
MIRT1240641	hsa-miR-4438	CLIP-seq
MIRT1240642	hsa-miR-4489	CLIP-seq
MIRT1240643	hsa-miR-4520a-3p	CLIP-seq
MIRT1240644	hsa-miR-4527	CLIP-seq
MIRT1240645	hsa-miR-4533	CLIP-seq
MIRT1240646	hsa-miR-4638-3p	CLIP-seq
MIRT1240647	hsa-miR-4728-5p	CLIP-seq
MIRT1240648	hsa-miR-4733-3p	CLIP-seq
MIRT1240649	hsa-miR-4802-3p	CLIP-seq
MIRT1240650	hsa-miR-506	CLIP-seq
MIRT1240651	hsa-miR-5095	CLIP-seq
MIRT1240652	hsa-miR-626	CLIP-seq
MIRT1240653	hsa-miR-665	CLIP-seq
MIRT1240654	hsa-miR-7	CLIP-seq
MIRT1240655	hsa-miR-711	CLIP-seq
MIRT1240656	hsa-miR-922	CLIP-seq
MIRT1240553	hsa-miR-1207-5p	CLIP-seq
MIRT1240614	hsa-miR-124	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240594	hsa-miR-1281	CLIP-seq
MIRT1240657	hsa-miR-146b-3p	CLIP-seq
MIRT1240658	hsa-miR-1913	CLIP-seq
MIRT1240596	hsa-miR-193a-5p	CLIP-seq
MIRT1240659	hsa-miR-214	CLIP-seq
MIRT1240557	hsa-miR-2467-3p	CLIP-seq
MIRT1240598	hsa-miR-2861	CLIP-seq
MIRT1240660	hsa-miR-3150b-3p	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240661	hsa-miR-3154	CLIP-seq
MIRT1240599	hsa-miR-3170	CLIP-seq
MIRT1240662	hsa-miR-3194-5p	CLIP-seq
MIRT1240663	hsa-miR-3197	CLIP-seq
MIRT1240620	hsa-miR-3202	CLIP-seq
MIRT1240664	hsa-miR-324-3p	CLIP-seq
MIRT1240665	hsa-miR-339-5p	CLIP-seq
MIRT1240666	hsa-miR-3591-5p	CLIP-seq
MIRT1240667	hsa-miR-361-3p	CLIP-seq
MIRT1240668	hsa-miR-3619-5p	CLIP-seq
MIRT1240567	hsa-miR-3678-3p	CLIP-seq
MIRT1240669	hsa-miR-3922-5p	CLIP-seq
MIRT1240670	hsa-miR-3927	CLIP-seq
MIRT1240671	hsa-miR-4255	CLIP-seq
MIRT1240602	hsa-miR-4286	CLIP-seq
MIRT1240672	hsa-miR-4293	CLIP-seq
MIRT1240673	hsa-miR-4316	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT1240576	hsa-miR-4446-3p	CLIP-seq
MIRT1240674	hsa-miR-4481	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240605	hsa-miR-4508	CLIP-seq
MIRT1240675	hsa-miR-4530	CLIP-seq
MIRT1240645	hsa-miR-4533	CLIP-seq
MIRT1240676	hsa-miR-4640-5p	CLIP-seq
MIRT1240677	hsa-miR-4650-3p	CLIP-seq
MIRT1240678	hsa-miR-4689	CLIP-seq
MIRT1240679	hsa-miR-4708-3p	CLIP-seq
MIRT1240680	hsa-miR-4710	CLIP-seq
MIRT1240681	hsa-miR-4726-5p	CLIP-seq
MIRT1240682	hsa-miR-4727-5p	CLIP-seq
MIRT1240683	hsa-miR-4736	CLIP-seq
MIRT1240684	hsa-miR-4745-5p	CLIP-seq
MIRT1240685	hsa-miR-4758-5p	CLIP-seq
MIRT1240585	hsa-miR-4763-3p	CLIP-seq
MIRT1240686	hsa-miR-4784	CLIP-seq
MIRT1240649	hsa-miR-4802-3p	CLIP-seq
MIRT1240650	hsa-miR-506	CLIP-seq
MIRT1240610	hsa-miR-661	CLIP-seq
MIRT1240687	hsa-miR-761	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240688	hsa-miR-877	CLIP-seq
MIRT1240689	hsa-miR-938	CLIP-seq
MIRT1552347	hsa-miR-656	CLIP-seq
MIRT1240613	hsa-miR-1231	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240595	hsa-miR-1324	CLIP-seq
MIRT1240555	hsa-miR-138	CLIP-seq
MIRT1240597	hsa-miR-2110	CLIP-seq
MIRT1240557	hsa-miR-2467-3p	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240559	hsa-miR-3064-5p	CLIP-seq
MIRT1240617	hsa-miR-3120-5p	CLIP-seq
MIRT2070742	hsa-miR-3132	CLIP-seq
MIRT1240561	hsa-miR-3135b	CLIP-seq
MIRT1240562	hsa-miR-3136-3p	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT2070743	hsa-miR-3179	CLIP-seq
MIRT1240620	hsa-miR-3202	CLIP-seq
MIRT2070744	hsa-miR-326	CLIP-seq
MIRT2070745	hsa-miR-330-5p	CLIP-seq
MIRT1240623	hsa-miR-3614-5p	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240566	hsa-miR-3657	CLIP-seq
MIRT2070746	hsa-miR-3663-5p	CLIP-seq
MIRT1240567	hsa-miR-3678-3p	CLIP-seq
MIRT2070747	hsa-miR-3681	CLIP-seq
MIRT1240625	hsa-miR-3689a-3p	CLIP-seq
MIRT1240626	hsa-miR-3689c	CLIP-seq
MIRT1240628	hsa-miR-378	CLIP-seq
MIRT1240629	hsa-miR-378b	CLIP-seq
MIRT1240630	hsa-miR-378c	CLIP-seq
MIRT1240631	hsa-miR-378d	CLIP-seq
MIRT1240632	hsa-miR-378e	CLIP-seq
MIRT1240633	hsa-miR-378f	CLIP-seq
MIRT1240634	hsa-miR-378h	CLIP-seq
MIRT1240635	hsa-miR-378i	CLIP-seq
MIRT1240600	hsa-miR-383	CLIP-seq
MIRT1240568	hsa-miR-3929	CLIP-seq
MIRT1240636	hsa-miR-422a	CLIP-seq
MIRT1240601	hsa-miR-4271	CLIP-seq
MIRT1240638	hsa-miR-4283	CLIP-seq
MIRT1240569	hsa-miR-4292	CLIP-seq
MIRT1240570	hsa-miR-4300	CLIP-seq
MIRT1240571	hsa-miR-4308	CLIP-seq
MIRT1240603	hsa-miR-4318	CLIP-seq
MIRT1240572	hsa-miR-4329	CLIP-seq
MIRT1240573	hsa-miR-4419b	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT1240641	hsa-miR-4438	CLIP-seq
MIRT2070748	hsa-miR-4460	CLIP-seq
MIRT2070749	hsa-miR-4474-5p	CLIP-seq
MIRT1240577	hsa-miR-4478	CLIP-seq
MIRT1240578	hsa-miR-4485	CLIP-seq
MIRT1240604	hsa-miR-4488	CLIP-seq
MIRT1240642	hsa-miR-4489	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240581	hsa-miR-4503	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240606	hsa-miR-4512	CLIP-seq
MIRT1240643	hsa-miR-4520a-3p	CLIP-seq
MIRT2070750	hsa-miR-4532	CLIP-seq
MIRT1240646	hsa-miR-4638-3p	CLIP-seq
MIRT1240607	hsa-miR-4697-5p	CLIP-seq
MIRT2070751	hsa-miR-4715-3p	CLIP-seq
MIRT2070752	hsa-miR-4722-3p	CLIP-seq
MIRT1240608	hsa-miR-4725-3p	CLIP-seq
MIRT2070753	hsa-miR-4727-3p	CLIP-seq
MIRT1240647	hsa-miR-4728-5p	CLIP-seq
MIRT2070754	hsa-miR-4731-5p	CLIP-seq
MIRT1240683	hsa-miR-4736	CLIP-seq
MIRT1240609	hsa-miR-4747-5p	CLIP-seq
MIRT1240587	hsa-miR-4786-5p	CLIP-seq
MIRT1240588	hsa-miR-485-5p	CLIP-seq
MIRT1240651	hsa-miR-5095	CLIP-seq
MIRT2070755	hsa-miR-541	CLIP-seq
MIRT1240589	hsa-miR-570	CLIP-seq
MIRT1240652	hsa-miR-626	CLIP-seq
MIRT2070756	hsa-miR-654-5p	CLIP-seq
MIRT1552347	hsa-miR-656	CLIP-seq
MIRT2070757	hsa-miR-659	CLIP-seq
MIRT1240654	hsa-miR-7	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240592	hsa-miR-769-5p	CLIP-seq
MIRT2070758	hsa-miR-889	CLIP-seq
MIRT1240593	hsa-miR-920	CLIP-seq
MIRT1240656	hsa-miR-922	CLIP-seq
MIRT2070759	hsa-miR-942	CLIP-seq
MIRT1240553	hsa-miR-1207-5p	CLIP-seq
MIRT1240614	hsa-miR-124	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240555	hsa-miR-138	CLIP-seq
MIRT2297932	hsa-miR-151-3p	CLIP-seq
MIRT1240597	hsa-miR-2110	CLIP-seq
MIRT1240598	hsa-miR-2861	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240559	hsa-miR-3064-5p	CLIP-seq
MIRT1240560	hsa-miR-3065-3p	CLIP-seq
MIRT2070742	hsa-miR-3132	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240599	hsa-miR-3170	CLIP-seq
MIRT2070743	hsa-miR-3179	CLIP-seq
MIRT1240620	hsa-miR-3202	CLIP-seq
MIRT2070744	hsa-miR-326	CLIP-seq
MIRT2070745	hsa-miR-330-5p	CLIP-seq
MIRT2297933	hsa-miR-3529	CLIP-seq
MIRT1240623	hsa-miR-3614-5p	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240566	hsa-miR-3657	CLIP-seq
MIRT2070747	hsa-miR-3681	CLIP-seq
MIRT1240625	hsa-miR-3689a-3p	CLIP-seq
MIRT1240626	hsa-miR-3689c	CLIP-seq
MIRT2297934	hsa-miR-379	CLIP-seq
MIRT1240600	hsa-miR-383	CLIP-seq
MIRT1240568	hsa-miR-3929	CLIP-seq
MIRT1240601	hsa-miR-4271	CLIP-seq
MIRT1240573	hsa-miR-4419b	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT2070748	hsa-miR-4460	CLIP-seq
MIRT2297935	hsa-miR-4463	CLIP-seq
MIRT1240577	hsa-miR-4478	CLIP-seq
MIRT1240578	hsa-miR-4485	CLIP-seq
MIRT2297936	hsa-miR-4499	CLIP-seq
MIRT1240581	hsa-miR-4503	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240605	hsa-miR-4508	CLIP-seq
MIRT2070750	hsa-miR-4532	CLIP-seq
MIRT1240645	hsa-miR-4533	CLIP-seq
MIRT2070751	hsa-miR-4715-3p	CLIP-seq
MIRT2070752	hsa-miR-4722-3p	CLIP-seq
MIRT1240608	hsa-miR-4725-3p	CLIP-seq
MIRT2070753	hsa-miR-4727-3p	CLIP-seq
MIRT1240647	hsa-miR-4728-5p	CLIP-seq
MIRT1240683	hsa-miR-4736	CLIP-seq
MIRT1240609	hsa-miR-4747-5p	CLIP-seq
MIRT1240585	hsa-miR-4763-3p	CLIP-seq
MIRT1240586	hsa-miR-4779	CLIP-seq
MIRT1240649	hsa-miR-4802-3p	CLIP-seq
MIRT1240588	hsa-miR-485-5p	CLIP-seq
MIRT1240650	hsa-miR-506	CLIP-seq
MIRT1240589	hsa-miR-570	CLIP-seq
MIRT1240610	hsa-miR-661	CLIP-seq
MIRT1240654	hsa-miR-7	CLIP-seq
MIRT1240688	hsa-miR-877	CLIP-seq
MIRT2070759	hsa-miR-942	CLIP-seq
MIRT1240614	hsa-miR-124	CLIP-seq
MIRT1240554	hsa-miR-1266	CLIP-seq
MIRT1240595	hsa-miR-1324	CLIP-seq
MIRT1240558	hsa-miR-296-5p	CLIP-seq
MIRT1240563	hsa-miR-3151	CLIP-seq
MIRT1240620	hsa-miR-3202	CLIP-seq
MIRT1240666	hsa-miR-3591-5p	CLIP-seq
MIRT1240623	hsa-miR-3614-5p	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240625	hsa-miR-3689a-3p	CLIP-seq
MIRT1240626	hsa-miR-3689c	CLIP-seq
MIRT1240600	hsa-miR-383	CLIP-seq
MIRT1240669	hsa-miR-3922-5p	CLIP-seq
MIRT1240671	hsa-miR-4255	CLIP-seq
MIRT1240603	hsa-miR-4318	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240575	hsa-miR-4433	CLIP-seq
MIRT1240576	hsa-miR-4446-3p	CLIP-seq
MIRT1240578	hsa-miR-4485	CLIP-seq
MIRT1240604	hsa-miR-4488	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240581	hsa-miR-4503	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT1240645	hsa-miR-4533	CLIP-seq
MIRT1240607	hsa-miR-4697-5p	CLIP-seq
MIRT1240679	hsa-miR-4708-3p	CLIP-seq
MIRT1240647	hsa-miR-4728-5p	CLIP-seq
MIRT1240649	hsa-miR-4802-3p	CLIP-seq
MIRT1240650	hsa-miR-506	CLIP-seq
MIRT1240589	hsa-miR-570	CLIP-seq
MIRT1552347	hsa-miR-656	CLIP-seq
MIRT1240654	hsa-miR-7	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240688	hsa-miR-877	CLIP-seq
MIRT1240559	hsa-miR-3064-5p	CLIP-seq
MIRT2070747	hsa-miR-3681	CLIP-seq
MIRT2070748	hsa-miR-4460	CLIP-seq
MIRT2070750	hsa-miR-4532	CLIP-seq
MIRT2070751	hsa-miR-4715-3p	CLIP-seq
MIRT2070753	hsa-miR-4727-3p	CLIP-seq
MIRT1240561	hsa-miR-3135b	CLIP-seq
MIRT2070747	hsa-miR-3681	CLIP-seq
MIRT1240568	hsa-miR-3929	CLIP-seq
MIRT1240573	hsa-miR-4419b	CLIP-seq
MIRT1240576	hsa-miR-4446-3p	CLIP-seq
MIRT2070748	hsa-miR-4460	CLIP-seq
MIRT1240577	hsa-miR-4478	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT2070750	hsa-miR-4532	CLIP-seq
MIRT1240584	hsa-miR-4685-5p	CLIP-seq
MIRT2070751	hsa-miR-4715-3p	CLIP-seq
MIRT2070752	hsa-miR-4722-3p	CLIP-seq
MIRT2070753	hsa-miR-4727-3p	CLIP-seq
MIRT1240587	hsa-miR-4786-5p	CLIP-seq
MIRT1240588	hsa-miR-485-5p	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240592	hsa-miR-769-5p	CLIP-seq
MIRT1240555	hsa-miR-138	CLIP-seq
MIRT1240559	hsa-miR-3064-5p	CLIP-seq
MIRT1240560	hsa-miR-3065-3p	CLIP-seq
MIRT1240561	hsa-miR-3135b	CLIP-seq
MIRT1240565	hsa-miR-3652	CLIP-seq
MIRT1240566	hsa-miR-3657	CLIP-seq
MIRT1240568	hsa-miR-3929	CLIP-seq
MIRT1240569	hsa-miR-4292	CLIP-seq
MIRT1240571	hsa-miR-4308	CLIP-seq
MIRT1240573	hsa-miR-4419b	CLIP-seq
MIRT1240574	hsa-miR-4430	CLIP-seq
MIRT1240576	hsa-miR-4446-3p	CLIP-seq
MIRT1240577	hsa-miR-4478	CLIP-seq
MIRT1240579	hsa-miR-4492	CLIP-seq
MIRT1240580	hsa-miR-4498	CLIP-seq
MIRT1240582	hsa-miR-4505	CLIP-seq
MIRT2070750	hsa-miR-4532	CLIP-seq
MIRT1240584	hsa-miR-4685-5p	CLIP-seq
MIRT2070751	hsa-miR-4715-3p	CLIP-seq
MIRT2070752	hsa-miR-4722-3p	CLIP-seq
MIRT1240586	hsa-miR-4779	CLIP-seq
MIRT1240587	hsa-miR-4786-5p	CLIP-seq
MIRT1240588	hsa-miR-485-5p	CLIP-seq
MIRT1240591	hsa-miR-762	CLIP-seq
MIRT1240592	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0002102	Component	Podosome	IEA
GO:0002102	Component	Podosome	ISS
GO:0002162	Function	Dystroglycan binding	IEA
GO:0002522	Process	Leukocyte migration involved in immune response	IEA
GO:0003334	Process	Keratinocyte development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005515	Function	Protein binding	IPI	12482924, 18827015, 19242489, 19932097, 22240165, 24940650, 25959826, 30021884, 32814053, 33961781, 35044719
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005886	Component	Plasma membrane	NAS	8633055
GO:0005903	Component	Brush border	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA
GO:0006997	Process	Nucleus organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	21109228
GO:0008307	Function	Structural constituent of muscle	TAS	8696340
GO:0010467	Process	Gene expression	IEA
GO:0010761	Process	Fibroblast migration	IEA
GO:0010818	Process	T cell chemotaxis	IEA
GO:0014866	Process	Skeletal myofibril assembly	IEA
GO:0016528	Component	Sarcoplasm	ISS	21223964
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030056	Component	Hemidesmosome	IBA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0030056	Component	Hemidesmosome	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030506	Function	Ankyrin binding	IBA
GO:0030506	Function	Ankyrin binding	IPI	21223964
GO:0031581	Process	Hemidesmosome assembly	IBA
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0032094	Process	Response to food	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0034332	Process	Adherens junction organization	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042060	Process	Wound healing	IBA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IDA	21109228
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043034	Component	Costamere	TAS	21223964
GO:0043114	Process	Regulation of vascular permeability	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0043588	Process	Skin development	IEA
GO:0043933	Process	Protein-containing complex organization	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045214	Process	Sarcomere organization	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045445	Process	Myoblast differentiation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048870	Process	Cell motility	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071464	Process	Cellular response to hydrostatic pressure	IEA
GO:0071498	Process	Cellular response to fluid shear stress	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0120193	Process	Tight junction organization	IEA
GO:2000689	Process	Actomyosin contractile ring assembly actin filament organization	IEA

Other IDs

• MIM: 601282
• HGNC: 9069
• e!Ensembl: ENSG00000178209

Protein

• UniProt ID: Q15149
• Protein name: Plectin (PCN) (PLTN) (Hemidesmosomal protein 1) (HD1) (Plectin-1)
• Protein function: Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in
• PDB: 1MB8, 2N03, 2ODU, 2ODV, 3F7P, 3PDY, 3PE0, 4GDO, 4Q58, 4Q59, 5J1F, 5J1G, 5J1H, 5J1I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03501	S10_plectin	7 → 101	Plectin/S10 domain	Domain
  PF00307	CH	179 → 283	Calponin homology (CH) domain	Domain
  PF00307	CH	295 → 401	Calponin homology (CH) domain	Domain
  PF17902	SH3_10	930 → 996	SH3 domain	Domain
  PF18373	Spectrin_like	1031 → 1108	Spectrin like domain	Domain
  PF00681	Plectin	2827 → 2867	Plectin repeat	Repeat
  PF00681	Plectin	2865 → 2905	Plectin repeat	Repeat
  PF00681	Plectin	2941 → 2981	Plectin repeat	Repeat
  PF00681	Plectin	3155 → 3195	Plectin repeat	Repeat
  PF00681	Plectin	3193 → 3233	Plectin repeat	Repeat
  PF00681	Plectin	3269 → 3309	Plectin repeat	Repeat
  PF00681	Plectin	3486 → 3526	Plectin repeat	Repeat
  PF00681	Plectin	3524 → 3564	Plectin repeat	Repeat
  PF00681	Plectin	3600 → 3640	Plectin repeat	Repeat
  PF00681	Plectin	3821 → 3861	Plectin repeat	Repeat
  PF00681	Plectin	3859 → 3899	Plectin repeat	Repeat
  PF00681	Plectin	3935 → 3975	Plectin repeat	Repeat
  PF00681	Plectin	4064 → 4104	Plectin repeat	Repeat
  PF00681	Plectin	4102 → 4142	Plectin repeat	Repeat
  PF00681	Plectin	4178 → 4218	Plectin repeat	Repeat
  PF00681	Plectin	4279 → 4309	Plectin repeat	Repeat
  PF00681	Plectin	4447 → 4487	Plectin repeat	Repeat
  PF00681	Plectin	4523 → 4563	Plectin repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in muscle, heart, placenta and spinal cord.
• Sequence:

  MVAGMLMPRDQLRAIYEVLFREGVMVAKKDRRPRSLHPHVPGVTNLQVMRAMASLRARGL
  VRETFAWCHFYWYLTNEGIAHLRQYLHLPPEIVPASLQRVRRPVAMVMPARRTPHVQAVQ
  GPLGSPPKRGPLPTEEQRVYRRKELEEVSPETPVVPATTQRTLARPGPEPAPATDERDRV
  QKKTFTKWVNKHLIKAQRHISDLYEDLRDGHNLISLLEVLSGDSLPREKGRMRFHKLQNV
  QIALDYLRHRQVKLVNIRNDDIADGNPKLTLGLIWTIILHFQISDIQVSGQSEDMTAKEK
  LLLWSQRMVEGYQGLRCDNFTSSWRDGRLFNAIIHRHKPLLIDMNKVYRQTNLENLDQAF
  SVAERDLGVTRLLDPEDVDVPQPDEKSIITYVSSLYDAMPRVPDVQDGVRANELQLRWQE
  YRELVLLLLQWMRHHTAAFEERRFPSSFEEIEILWSQFLKFKEMELPAKEADKNRSKGIY
  QSLEGAVQAGQLKVPPGYHPLDVEKEWGKLHVAILEREKQLRSEFERLECLQRIVTKLQM
  EAGLCEEQLNQADALLQSDVRLLAAGKVPQRAGEVERDLDKADSMIRLLFNDVQTLKDGR
  HPQGEQMYRRVYRLHERLVAIRTEYNLRLKAGVAAPATQVAQVTLQSVQRRPELEDSTLR
  YLQDLLAWVEENQHRVDGAEWGVDLPSVEAQLGSHRGLHQSIEEFRAKIERARSDEGQLS
  PATRGAYRDCLGRLDLQYAKLLNSSKARLRSLESLHSFVAAATKELMWLNEKEEEEVGFD
  WSDRNTNMTAKKESYSALMRELELKEKKIKELQNAGDRLLREDHPARPTVESFQAALQTQ
  WSWMLQLCCCIEAHLKENAAYFQFFSDVREAEGQLQKLQEALRRKYSCDRSATVTRLEDL
  LQDAQDEKEQLNEYKGHLSGLAKRAKAVVQLKPRHPAHPMRGRLPLLAVCDYKQVEVTVH
  KGDECQLVGPAQPSHWKVLSSSGSEAAVPSVCFLVPPPNQEAQEAVTRLEAQHQALVTLW
  HQLHVDMKSLLAWQSLRRDVQLIRSWSLATFRTLKPEEQRQALHSLELHYQAFLRDSQDA
  GGFGPEDRLMAEREYGSCSHHYQQLLQSLEQGAQEESRCQRCISELKDIRLQLEACETRT
  VHRLRLPLDKEPARECAQRIAEQQKAQAEVEGLGKGVARLSAEAEKVLALPEPSPAAPTL
  RSELELTLGKLEQVRSLSAIYLEKLKTISLVIRGTQGAEEVLRAHEEQLKEAQAVPATLP
  ELEATKASLKKLRAQAEAQQPTFDALRDELRGAQEVGERLQQRHGERDVEVERWRERVAQ
  LLERWQAVLAQTDVRQRELEQLGRQLRYYRESADPLGAWLQDARRRQEQIQAMPLADSQA
  VREQLRQEQALLEEIERHGEKVEECQRFAKQYINAIKDYELQLVTYKAQLEPVASPAKKP
  KVQSGSESVIQEYVDLRTHYSELTTLTSQYIKFISETLRRMEEEERLAEQQRAEERERLA
  EVEAALEKQRQLAEAHAQAKAQAEREAKELQQRMQEEVVRREEAAVDAQQQKRSIQEELQ
  QLRQSSEAEIQAKARQAEAAERSRLRIEEEIRVVRLQLEATERQRGGAEGELQALRARAE
  EAEAQKRQAQEEAERLRRQVQDESQRKRQAEVELASRVKAEAEAAREKQRALQALEELRL
  QAEEAERRLRQAEVERARQVQVALETAQRSAEAELQSKRASFAEKTAQLERSLQEEHVAV
  AQLREEAERRAQQQAEAERAREEAERELERWQLKANEALRLRLQAEEVAQQKSLAQAEAE
  KQKEEAEREARRRGKAEEQAVRQRELAEQELEKQRQLAEGTAQQRLAAEQELIRLRAETE
  QGEQQRQLLEEELARLQREAAAATQKRQELEAELAKVRAEMEVLLASKARAEEESRSTSE
  KSKQRLEAEAGRFRELAEEAARLRALAEEAKRQRQLAEEDAARQRAEAERVLAEKLAAIG
  EATRLKTEAEIALKEKEAENERLRRLAEDEAFQRRRLEEQAAQHKADIEERLAQLRKASD
  SELERQKGLVEDTLRQRRQVEEEILALKASFEKAAAGKAELELELGRIRSNAEDTLRSKE
  QAELEAARQRQLAAEEERRRREAEERVQKSLAAEEEAARQRKAALEEVERLKAKVEEARR
  LRERAEQESARQLQLAQEAAQKRLQAEEKAHAFAVQQKEQELQQTLQQEQSVLDQLRGEA
  EAARRAAEEAEEARVQAEREAAQSRRQVEEAERLKQSAEEQAQARAQAQAAAEKLRKEAE
  QEAARRAQAEQAALRQKQAADAEMEKHKKFAEQTLRQKAQVEQELTTLRLQLEETDHQKN
  LLDEELQRLKAEATEAARQRSQVEEELFSVRVQMEELSKLKARIEAENRALILRDKDNTQ
  RFLQEEAEKMKQVAEEAARLSVAAQEAARLRQLAEEDLAQQRALAEKMLKEKMQAVQEAT
  RLKAEAELLQQQKELAQEQARRLQEDKEQMAQQLAEETQGFQRTLEAERQRQLEMSAEAE
  RLKLRVAEMSRAQARAEEDAQRFRKQAEEIGEKLHRTELATQEKVTLVQTLEIQRQQSDH
  DAERLREAIAELEREKEKLQQEAKLLQLKSEEMQTVQQEQLLQETQALQQSFLSEKDSLL
  QRERFIEQEKAKLEQLFQDEVAKAQQLREEQQRQQQQMEQERQRLVASMEEARRRQHEAE
  EGVRRKQEELQQLEQQRRQQEELLAEENQRLREQLQLLEEQHRAALAHSEEVTASQVAAT
  KTLPNGRDALDGPAAEAEPEHSFDGLRRKVSAQRLQEAGILSAEELQRLAQGHTTVDELA
  RREDVRHYLQGRSSIAGLLLKATNEKLSVYAALQRQLLSPGTALILLEAQAASGFLLDPV
  RNRRLTVNEAVKEGVVGPELHHKLLSAERAVTGYKDPYTGQQISLFQAMQKGLIVREHGI
  RLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFDEEMNRVLADPSDDTKGFFDPNTHENLT
  YLQLLERCVEDPETGLCLLPLTDKAAKGGELVYTDSEARDVFEKATVSAPFGKFQGKTVT
  IWEIINSEYFTAEQRRDLLRQFRTGRITVEKIIKIIITVVEEQEQKGRLCFEGLRSLVPA
  AELLESRVIDRELYQQLQRGERSVRDVAEVDTVRRALRGANVIAGVWLEEAGQKLSIYNA
  LKKDLLPSDMAVALLEAQAGTGHIIDPATSARLTVDEAVRAGLVGPEFHEKLLSAEKAVT
  GYRDPYTGQSVSLFQALKKGLIPREQGLRLLDAQLSTGGIVDPSKSHRVPLDVACARGCL
  DEETSRALSAPRADAKAYSDPSTGEPATYGELQQRCRPDQLTGLSLLPLSEKAARARQEE
  LYSELQARETFEKTPVEVPVGGFKGRTVTVWELISSEYFTAEQRQELLRQFRTGKVTVEK
  VIKILITIVEEVETLRQERLSFSGLRAPVPASELLASGVLSRAQFEQLKDGKTTVKDLSE
  LGSVRTLLQGSGCLAGIYLEDTKEKVSIYEAMRRGLLRATTAALLLEAQAATGFLVDPVR
  NQRLYVHEAVKAGVVGPELHEQLLSAEKAVTGYRDPYSGSTISLFQAMQKGLVLRQHGIR
  LLEAQIATGGIIDPVHSHRVPVDVAYQRGYFSEEMNRVLADPSDDTKGFFDPNTHENLTY
  RQLLERCVEDPETGLRLLPLKGAEKAEVVETTQVYTEEETRRAFEETQIDIPGGGSHGGS
  TMSLWEVMQSDLIPEEQRAQLMADFQAGRVTKERMIIIIIEIIEKTEIIRQQGLASYDYV
  RRRLTAEDLFEARIISLETYNLLREGTRSLREALEAESAWCYLYGTGSVAGVYLPGSRQT
  LSIYQALKKGLLSAEVARLLLEAQAATGFLLDPVKGERLTVDEAVRKGLVGPELHDRLLS
  AERAVTGYRDPYTEQTISLFQAMKKELIPTEEALRLLDAQLATGGIVDPRLGFHLPLEVA
  YQRGYLNKDTHDQLSEPSEVRSYVDPSTDERLSYTQLLRRCRRDDGTGQLLLPLSDARKL
  TFRGLRKQITMEELVRSQVMDEATALQLREGLTSIEEVTKNLQKFLEGTSCIAGVFVDAT
  KERLSVYQAMKKGIIRPGTAFELLEAQAATGYVIDPIKGLKLTVEEAVRMGIVGPEFKDK
  LLSAERAVTGYKDPYSGKLISLFQAMKKGLILKDHGIRLLEAQIATGGIIDPEESHRLPV
  EVAYKRGLFDEEMNEILTDPSDDTKGFFDPNTEENLTYLQLMERCITDPQTGLCLLPLKE
  KKRERKTSSKSSVRKRRVVIVDPETGKEMSVYEAYRKGLIDHQTYLELSEQECEWEEITI
  SSSDGVVKSMIIDRRSGRQYDIDDAIAKNLIDRSALDQYRAGTLSITEFADMLSGNAGGF
  RSRSSSVGSSSSYPISPAVSRTQLASWSDPTEETGPVAGILDTETLEKVSITEAMHRNLV
  DNITGQRLLEAQACTGGIIDPSTGERFPVTDAVNKGLVDKIMVDRINLAQKAFCGFEDPR
  TKTKMSAAQALKKGWLYYEAGQRFLEVQYLTGGLIEPDTPGRVPLDEALQRGTVDARTAQ
  KLRDVGAYSKYLTCPKTKLKISYKDALDRSMVEEGTGLRLLEAAAQSTKGYYSPYSVSGS
  GSTAGSRTGSRTGSRAGSRRGSFDATGSGFSMTFSSSSYSSSGYGRRYASGSSASLGGPE
  SAVA

• Sequence length: 4684

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Assembly of collagen fibrils and other multimeric structures
Caspase-mediated cleavage of cytoskeletal proteins
Type I hemidesmosome assembly

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
Abnormality of the musculature	Likely pathogenic	rs781823434, rs1554711139, rs864309673	RCV001814429 RCV001814526 RCV001814009	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the skin	Likely pathogenic	rs2132086965	RCV001814352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2Q	Pathogenic; Likely pathogenic	rs1554669959, rs1554671979, rs376827900, rs2131325419, rs2132991341, rs1554686620, rs1554691029, rs2131949494, rs1554702689, rs2130817714, rs2131422085, rs2131471759, rs2133006435, rs1823561323, rs2131284343, rs2131772658, rs781837529, rs1410984638, rs2131581257, rs2131767962, rs1554690016, rs2537869606, rs368904034, rs1828572665, rs1360142371, rs2537519119, rs2537472769, rs2539091124, rs1554681111, rs2538800930, rs2537433619, rs2538583945, rs2538833403, rs2537428279, rs2538953353, rs2537955176, rs80338756, rs137853161, rs1381450738, rs886044894, rs782284724, rs1554715907, rs2538506282, rs2538776350, rs2539004951, rs2537814042, rs868975952, rs782178037, rs1424946706, rs1586765219, rs1827804297, rs1282317175, rs2537875648, rs782643774, rs2539340597, rs782045368, rs864309673, rs387906802, rs1060499581, rs1554719990, rs1554683108, rs1554681167, rs1554675388, rs1554689309, rs111730406, rs1279778532, rs782107643, rs368550010, rs1186518181	RCV001386622 RCV001381862 RCV001384546 RCV001387275 RCV001650502 RCV001650503 RCV003772109 RCV003772140 RCV002034606 RCV001941831 RCV001949703 RCV001963030 RCV001903047 RCV001942170 RCV001962954 RCV001933588 RCV001939350 RCV001953416 RCV001953448 RCV001888898 RCV003037307 RCV003037308 RCV003076883 RCV003060796 RCV003090424 RCV003090617 RCV002606644 RCV003111796 RCV002642828 RCV002823861 RCV002797286 RCV002872140 RCV003008528 RCV003030112 RCV003038051 RCV003065955 RCV001381863 RCV001851744 RCV003778709 RCV002518096 RCV003797813 RCV003796534 RCV003792269 RCV003792393 RCV003806478 RCV003790909 RCV003806284 RCV003804373 RCV003802892 RCV003801149 RCV003796916 RCV003794962 RCV003800756 RCV003802041 RCV003817698 RCV003810180 RCV000023089 RCV001387924 RCV000477758 RCV002524074 RCV000648475 RCV001854095 RCV000648519 RCV000648502 RCV000700614 RCV003768288 RCV001855934 RCV005213448 RCV001042126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex	Pathogenic	rs1822243280, rs1824069966	RCV001352839 RCV001352837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex 5B, with muscular dystrophy	Pathogenic; Likely pathogenic	rs1554669959, rs1554671979, rs376827900, rs2131325419, rs2132991341, rs1554686620, rs1554691029, rs2131949494, rs1554702689, rs2131266696, rs2130817714, rs2131422085, rs2131471759, rs2133006435, rs1823561323, rs2131284343, rs2131772658, rs781837529, rs1410984638, rs2131581257, rs2131767962, rs1554690016, rs2537869606, rs368904034, rs1828572665, rs1360142371, rs2537519119, rs2537472769, rs2539091124, rs1554681111, rs2538800930, rs2537433619, rs2538583945, rs2538833403, rs2537428279, rs2538953353, rs2537955176, rs786205251, rs786205253, rs786205254, rs80338756, rs137853161, rs1381450738, rs2538000129, rs886044894, rs782284724, rs1554715907, rs2538506282, rs2538776350, rs2539004951, rs2537814042, rs868975952, rs782178037, rs1424946706, rs1586765219, rs1827804297, rs1282317175, rs2537875648, rs782643774, rs2539340597, rs782045368, rs864309674, rs387906801, rs387906802, rs1060499581, rs1554719990, rs1554683108, rs1554681167, rs1554675388, rs1554689309, rs111730406, rs1279778532, rs782107643, rs368550010, rs1186518181	RCV001386622 RCV001381862 RCV001384546 RCV001387275 RCV002073029 RCV001882744 RCV003772109 RCV003772140 RCV002034606 RCV001823696 RCV001941831 RCV001949703 RCV001963030 RCV001903047 RCV001942170 RCV001962954 RCV001933588 RCV001939350 RCV001953416 RCV001953448 RCV001888898 RCV003037307 RCV003037308 RCV003076883 RCV003060796 RCV003090424 RCV003090617 RCV002606644 RCV003111796 RCV002642828 RCV002823861 RCV002797286 RCV002872140 RCV003008528 RCV003030112 RCV003038051 RCV003065955 RCV000008747 RCV000008749 RCV000008750 RCV001381863 RCV001851744 RCV003778709 RCV003314418 RCV002518096 RCV003797813 RCV003796534 RCV003792269 RCV003792393 RCV003806478 RCV003790909 RCV003806284 RCV003804373 RCV003802892 RCV003801149 RCV003796916 RCV003794962 RCV003800756 RCV003802041 RCV003817698 RCV003810180 RCV000023090 RCV000023091 RCV000023092 RCV000477758 RCV002524074 RCV000648475 RCV001854095 RCV000648519 RCV000648502 RCV000700614 RCV003768288 RCV001855934 RCV005213448 RCV001042126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex 5C, with pyloric atresia	Pathogenic; Likely pathogenic	rs1554669959, rs1554671979, rs376827900, rs2131325419, rs2132991341, rs1554686620, rs1554713693, rs1554691029, rs2131949494, rs1554702689, rs2131081539, rs2130817714, rs2131422085, rs2131471759, rs2133006435, rs1823561323, rs2131284343, rs2131772658, rs781837529, rs1410984638, rs2131581257, rs2131767962, rs1554690016, rs2537869606, rs368904034, rs1828572665, rs1360142371, rs2537519119, rs2537472769, rs2539091124, rs1554681111, rs374419983, rs2538800930, rs2537433619, rs2538583945, rs2538833403, rs2537428279, rs2538953353, rs2537955176, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs1381450738, rs886044894, rs782284724, rs1554715907, rs2538506282, rs2538776350, rs2539004951, rs2537814042, rs868975952, rs782178037, rs1424946706, rs1586765219, rs1827804297, rs1282317175, rs2537875648, rs782643774, rs2539340597, rs782045368, rs387906802, rs1060499581, rs1554719990, rs1554683108, rs1554681167, rs1554675388, rs1554689309, rs111730406, rs1279778532, rs782107643, rs368550010, rs1186518181	RCV001386622 RCV001381862 RCV001384546 RCV001387275 RCV002073029 RCV001882744 RCV001714247 RCV003772109 RCV003772140 RCV002034606 RCV001806302 RCV001941831 RCV001949703 RCV001963030 RCV001903047 RCV001942170 RCV001962954 RCV001933588 RCV001939350 RCV001953416 RCV001953448 RCV001888898 RCV003037307 RCV003037308 RCV003076883 RCV003060796 RCV003090424 RCV003090617 RCV002606644 RCV003111796 RCV002642828 RCV003338451 RCV002823861 RCV002797286 RCV002872140 RCV003008528 RCV003030112 RCV003038051 RCV003065955 RCV001381863 RCV000008752 RCV000008753 RCV000008754 RCV000008755 RCV003778709 RCV002518096 RCV003797813 RCV003796534 RCV003792269 RCV003792393 RCV003806478 RCV003790909 RCV003806284 RCV003804373 RCV003802892 RCV003801149 RCV003796916 RCV003794962 RCV003800756 RCV003802041 RCV003817698 RCV003810180 RCV001387924 RCV000477758 RCV002524074 RCV000648475 RCV001854095 RCV000648519 RCV000648502 RCV000700614 RCV003768288 RCV001855934 RCV005213448 RCV001042126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex with nail dystrophy	Pathogenic; Likely pathogenic	rs1554669959, rs1554671979, rs376827900, rs2131325419, rs1554721492, rs2132991341, rs1554686620, rs1554691029, rs2131949494, rs1554702689, rs2130817714, rs2131422085, rs2131471759, rs2133006435, rs1823561323, rs2131284343, rs2131772658, rs781837529, rs1410984638, rs2131581257, rs2131767962, rs2131745242, rs1319844752, rs1554690016, rs2537869606, rs368904034, rs1828572665, rs1360142371, rs2537519119, rs2537472769, rs2539091124, rs1554681111, rs374419983, rs2538800930, rs2537433619, rs2538583945, rs2538833403, rs2537428279, rs2538953353, rs2537955176, rs80338756, rs137853161, rs1381450738, rs2537779184, rs2537296864, rs886044894, rs2538901222, rs782284724, rs1554715907, rs2538506282, rs2538776350, rs2539004951, rs2537814042, rs868975952, rs782178037, rs1424946706, rs1586765219, rs1827804297, rs1282317175, rs2537875648, rs782643774, rs2539340597, rs782045368, rs2538105784, rs2537729643, rs387906802, rs1060499581, rs1554719990, rs1554683108, rs1554681167, rs1554675388, rs1554689309, rs111730406, rs1279778532, rs782107643, rs368550010, rs1186518181	RCV001386622 RCV001381862 RCV001384546 RCV001387275 RCV001528102 RCV002073029 RCV001882744 RCV003772109 RCV003772140 RCV002034606 RCV001941831 RCV001949703 RCV001963030 RCV001903047 RCV001942170 RCV001962954 RCV001933588 RCV001939350 RCV001953416 RCV001953448 RCV001888898 RCV002248370 RCV002248371 RCV003037307 RCV003037308 RCV003076883 RCV003060796 RCV003090424 RCV003090617 RCV002606644 RCV003111796 RCV002642828 RCV000186559 RCV002823861 RCV002797286 RCV002872140 RCV003008528 RCV003030112 RCV003038051 RCV003065955 RCV001381863 RCV001851744 RCV003778709 RCV003236680 RCV003236681 RCV002518096 RCV003338091 RCV003797813 RCV003796534 RCV003792269 RCV003792393 RCV003806478 RCV003790909 RCV003806284 RCV003804373 RCV003802892 RCV003801149 RCV003796916 RCV003794962 RCV003800756 RCV003802041 RCV003817698 RCV003810180 RCV003984999 RCV004557236 RCV001387924 RCV000477758 RCV002524074 RCV000648475 RCV001854095 RCV000648519 RCV000648502 RCV000700614 RCV003768288 RCV001855934 RCV001030797 RCV001042126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Ogna type	Pathogenic; Likely pathogenic	rs1554669959, rs1554671979, rs376827900, rs2131325419, rs2132991341, rs1554686620, rs1554691029, rs2131949494, rs1554702689, rs2130817714, rs2131422085, rs2131471759, rs2133006435, rs1823561323, rs2131284343, rs2131772658, rs781837529, rs1410984638, rs2131581257, rs2131767962, rs1554690016, rs2537869606, rs368904034, rs1828572665, rs1360142371, rs2537519119, rs2537472769, rs2539091124, rs1554681111, rs2538800930, rs2537433619, rs2538583945, rs2538833403, rs2537428279, rs2538953353, rs2537955176, rs80338756, rs137853161, rs1381450738, rs886044894, rs782284724, rs1554715907, rs2538506282, rs2538776350, rs2539004951, rs2537814042, rs868975952, rs782178037, rs1424946706, rs1586765219, rs1827804297, rs1282317175, rs2537875648, rs782643774, rs2539340597, rs782045368, rs387906802, rs1060499581, rs1554719990, rs1554683108, rs1554681167, rs1554675388, rs1554689309, rs111730406, rs1279778532, rs782107643, rs368550010, rs1186518181	RCV001386622 RCV001381862 RCV001384546 RCV001387275 RCV002073029 RCV001882744 RCV003772109 RCV003772140 RCV002034606 RCV001941831 RCV001949703 RCV001963030 RCV001903047 RCV001942170 RCV001962954 RCV001933588 RCV001939350 RCV001953416 RCV001953448 RCV001888898 RCV003037307 RCV003037308 RCV003076883 RCV003060796 RCV003090424 RCV003090617 RCV002606644 RCV003111796 RCV002642828 RCV002823861 RCV002797286 RCV002872140 RCV003008528 RCV003030112 RCV003038051 RCV003065955 RCV000008751 RCV001851744 RCV003778709 RCV002518096 RCV003797813 RCV003796534 RCV003792269 RCV003792393 RCV003806478 RCV003790909 RCV003806284 RCV003804373 RCV003802892 RCV003801149 RCV003796916 RCV003794962 RCV003800756 RCV003802041 RCV003817698 RCV003810180 RCV001387924 RCV000477758 RCV002524074 RCV000648475 RCV001854095 RCV000648519 RCV000648502 RCV000700614 RCV003768288 RCV001855934 RCV005213448 RCV001042126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa with pyloric atresia	Pathogenic	rs879255260	RCV000239385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs1554691029	RCV001775215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease caused by qualitative or quantitative defects of plectin	Likely pathogenic	rs1554720083	RCV003226104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLEC-related disorder	Likely pathogenic	rs1554683130	RCV003230911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Simplex epidermolysis bullosa_Ogna type	Pathogenic	rs80338756	RCV001352838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASIA CUTIS CONGENITA	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 1	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSA BULLOSA SIMPLEX AND LIMB GIRDLE MUSCULAR DYSTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE	—	GenCC, HPO GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sclerosis	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★☆☆☆ 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
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEC-related epidermolysis bullosa	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEC-RELATED INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX WITHOUT EXTRACUTANEOUS INVOLVEMENT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEC-RELATED MUSCULAR DYSTROPHY-EPIDERMOLYSIS BULLOSA SIMPLEX SPECTRUM DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	18084872		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31628412		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18084872		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	9849894		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	16507904		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	23717685	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30872628		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30872628	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	31257275	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24218614, 28969083, 28991294, 30553134		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31184804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	ORPHANET_DG	31184804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia cutis congenita	Aplasia Cutis Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	30161220		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	30161220	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	16507904		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29050564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	29050564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	10780662, 14675180, 17989727	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	2050743, 28887824		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18853744	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18853744, 36613521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28276928	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31628412		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	30991875	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25712130, 27121971		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28594148	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28594148	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	9849894		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	29273475		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	30691450	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30730609		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	17989727, 25530118, 31195081		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	10525545, 11851880, 14675180, 17989727, 20665883, 21263134, 27121971, 29352809, 35234827, 35815343, 37716646, 8698233, 8941634, 9886273	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	CLINVAR_DG	10652002, 15654962, 19945614, 23289980, 8830774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	BEFREE	12071635, 14675180, 14963703, 15206692, 16967486, 17989727, 18268535, 20624679, 25209331, 25454730, 27121971, 8698233, 8941634, 9028791, 9352221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	ORPHANET_DG	20052759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	28447722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Pubtator	8636409	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	10367729, 10652001, 10652002, 12677430, 15206692, 15810881, 20665883, 21674528, 27813154, 28941359, 30880037, 478556, 8696340, 8698233, 8981021, 9028791, 9484717, 9620484, 9886273		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	10652002, 14675180, 15206692, 20665883, 33921969, 35815343, 36578049	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	15654962		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	18563182	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	10652001, 11084300, 11159198, 11851880, 12930305, 14675180, 15659326, 15681471, 16098032, 1718160, 19945614, 20447487, 20624679, 20665883, 21175599, 21263134, 21413955, 22864774, 23289980, 25712130, 28941359, 30880037, 8696340, 8894687, 9067706, 9177781, 9389647, 9470905		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	10652001, 11159198, 14675180, 15206692, 15681471, 16098032, 18563182, 20665883, 21263134, 24940650, 28941359, 33921969, 34046686, 35815343, 38368142	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis Bullosa Simplex Autosomal Recessive	Epidermolysis bullosa	Pubtator	32725257	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex Kobner	Epidermolysis Bullosa	BEFREE	15681471, 15810881, 20665883, 28941359		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	11851880, 14675180, 15206692	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex with muscular dystrophy	Epidermolysis Bullosa Simplex With Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY	Epidermolysis Bullosa Simplex With Nail Dystrophy	CLINVAR_DG	10652002, 15654962, 19945614, 23289980, 8830774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY	Epidermolysis Bullosa Simplex With Nail Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	CLINVAR_DG	10652002, 15654962, 19945614, 23289980, 8830774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	ORPHANET_DG	20052759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with pyloric atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	BEFREE	20665883, 21175599, 23289980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis bullosa	Pubtator	20665883	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex With Pyloric Atresia	Epidermolysis Bullosa Simplex With Pyloric Atresia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	Epidermolysis Bullosa Simplex	BEFREE	12071635, 25530118, 27121971, 9352221		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	CLINVAR_DG	10652002, 15654962, 19945614, 23289980, 8830774		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	UNIPROT_DG	11851880		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	ORPHANET_DG	11851880		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa simplex, Ogna type	Epidermolysis Bullosa Simplex	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	BEFREE	15654962, 18563182, 19945615, 26739954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	15654962, 18563182, 20665883, 39322060	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa with pyloric atresia	Epidermolysis Bullosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21743296	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	35815343	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	32576226	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12222834		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12222834		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24218614		★☆☆☆☆ Found in Text Mining only
Junctional split	Junctional split	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	20624679, 22864774		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	GENOMICS_ENGLAND_DG	25683118		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	25454730		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27833093		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	21109228		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21144834, 28276928		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28276928		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31628412	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19760374	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28276928		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31628412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24218614, 28991294, 29574092, 30172243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	29761480		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24218614, 24810881, 24885752, 28665106, 28735175, 29088820, 29774075, 30622595		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	29761480		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	9849894		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28547791		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27121971	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	37716646	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	25556389, 28447722		★☆☆☆☆ 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	10652002, 11084300, 12677430, 14675180, 14963703, 15206692, 15654962, 15659326, 18563182, 19181100, 20447487, 20624679, 20665883, 21175599, 21263134, 22864774, 23289980, 25454730, 25712130, 26019234, 27813154, 30880037, 8696340, 8698233, 8894687, 8981021, 9177781, 9470905, 9484717, 9886273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	10652002, 15654962, 19945614, 23289980, 8830774		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	Limb-Girdle Muscular Dystrophy	UNIPROT_DG	21109228, 25556389, 27234031		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	Limb-Girdle Muscular Dystrophy	BEFREE	25556389		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	28447722		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	20624679, 22864774		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	25683118		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	21263134, 32605089, 35670010, 35815343	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	21175599, 21952943, 31449669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	25683118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	9389647		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24218614, 28547791, 28735175, 29574092, 31638766		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	9352221		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22864774		★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30730609, 32580029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	29559693		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	30730609		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	40660273	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28849826		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17971902, 33091877	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24218614, 28991294, 29574092, 30172243		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24218614, 28991294		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31769963		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22275185	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigoid Benign Mucous Membrane	Benign mucous membrane pemphigoid	Pubtator	10652001	Associate	★☆☆☆☆ Found in Text Mining only
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	Epidermolysis Bullosa Simplex Without Extracutaneous Involvement	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Plectin-related limb-girdle muscular dystrophy R17	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23717685	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate epithelial keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate keratitis	Punctate keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	BEFREE	15681471, 20447487, 20665883, 21175599, 21263134, 23289980, 27813154		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30187999		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30991875		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26306491, 37373553	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22245045		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	29761480	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	29761480	Associate	★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only