SYNE1 (spectrin repeat containing nuclear envelope protein 1)

Gene

• Entrez ID: 23345
• Gene name: Spectrin repeat containing nuclear envelope protein 1
• Gene symbol: SYNE1
• Synonyms (NCBI Gene): 8B, AMC3, AMCM, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2
• Chromosome: 6
• Chromosome location: 6q25.2
• Summary: This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35686213	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, synonymous variant
rs41301343	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs77853132	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs80265744	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs111367233	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs111511993	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs113163375	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs114858512	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs115534729	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs117360770	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs117480635	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs118022241	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs119103244	G>A,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs119103245	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs119103246	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs119103248	C>T	Uncertain-significance, pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs137919524	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138004884	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138032057	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs138039375	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138173087	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138277154	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138307449	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138407813	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs138509817	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138617999	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138650597	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138787771	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs139070088	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs139466191	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs139480065	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs139834542	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140005424	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs140136749	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140259310	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs140577642	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140861713	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140927945	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs141170182	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141202420	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141263831	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141315921	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs141464488	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs141586001	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs141716975	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs141858284	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142251671	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs142422990	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142690727	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs143070183	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143093185	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143105336	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143118084	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143490673	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143674856	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144056525	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs144105769	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144376043	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144418713	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs144435836	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs145401144	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146180064	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146238726	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146244669	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567178	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567226	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146705789	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146789107	G>C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147143947	C>A,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147173664	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs147508177	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147870520	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147998933	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148008634	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148028681	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148240825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs148376885	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148486281	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149005052	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149109801	A>G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149146258	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149260051	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149272010	C>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149536991	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149758808	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149901087	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs150072383	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs150170988	G>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150304757	C>T	Benign, benign-likely-benign, likely-benign, likely-pathogenic, uncertain-significance	Intron variant, genic upstream transcript variant, non coding transcript variant
rs150376715	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150637898	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150811468	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs150905950	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs150912982	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs151081036	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs151247098	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs183683592	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs184006845	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs184264920	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs185350092	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs185829704	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs187410988	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs199554198	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs199701902	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs199762799	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199779021	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199996504	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200002217	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs200276242	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200412221	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs200424447	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200658991	C>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201078523	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201146062	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201344762	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201392317	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs201692248	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs201715967	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs201799566	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs201898019	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs201908045	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs202207154	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs367603152	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs368364250	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs369587906	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371017408	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs372723292	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372744173	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs372832470	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373129942	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373438870	A>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375077588	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs375558499	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs375707429	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375826346	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs375862387	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs376033376	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376218204	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376327805	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs376491803	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs376651419	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377058395	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs377088951	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs377113267	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377344899	A>C,G	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs567435072	->A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs569973824	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, synonymous variant
rs570916267	G>A,T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs573806608	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs606231134	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs606231135	CA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs606231292	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs746328978	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, stop gained
rs746438011	A>G,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs748695956	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs750318922	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs750669148	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs752224921	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs753367709	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs755531859	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs755622688	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs755709525	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756713928	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757104773	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757124573	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs757280513	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757479164	C>T	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs757744079	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758337239	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758375991	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs758555741	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant
rs759403157	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs759460806	T>C,G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs760209358	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs760715690	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs761266231	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs761395846	A>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs761939786	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs763325410	G>A,C	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs763818494	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs763930147	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs765865910	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, coding sequence variant, synonymous variant
rs767090248	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs767294195	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs768958602	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs770210620	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs770448083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs771573516	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs771857618	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771898973	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs771955377	G>A,T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs773028680	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs773593843	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs774388631	->T	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic upstream transcript variant
rs776288515	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs776505129	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs776806501	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs780451185	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs780644969	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs780991031	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs781552217	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs794727110	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs794727577	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727986	AATCA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs797045109	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046024	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046025	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs797046026	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224927	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs863224928	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224929	TCTGAAATAAC>G	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs886042380	T>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042421	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886042657	GA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042799	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043012	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043162	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043645	AGAGACTGCGAAAGCTTCTTTTTGAAAGT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043963	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044155	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886044346	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044380	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044588	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs893217390	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs910956017	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs968884551	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs1057518603	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057519157	C>-	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1057520134	G>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057520552	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057521719	T>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057521813	A>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1060499769	C>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1064794555	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1064796579	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1064797331	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1064797332	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1164612098	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, splice donor variant
rs1174316105	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1194460500	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1203553546	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1269308421	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, synonymous variant
rs1362058277	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1385280819	->T	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1412791793	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1452163185	A>G,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1466752822	A>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, stop gained
rs1554226673	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554246434	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554247806	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554372048	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554414122	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554440887	AGGAGAAT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554451078	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554455233	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554468335	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554471992	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554491478	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554544827	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1554550339	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs1554553667	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554558620	TCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCTC>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554573328	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554676394	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554681651	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554709875	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554721227	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554753528	T>C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant, intron variant
rs1554756035	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554768245	C>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554829141	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562643321	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562842409	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1562984446	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1563118316	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1563123183	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563130387	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563330296	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs1563391747	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1563941569	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564136499	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564367104	GA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1564400585	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564555089	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1586285494	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1586296730	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1586909309	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1588855714	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1589780980	T>GA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1589919815	AAGGTTACCT>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1590102028	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590230520	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590463470	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590820792	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590884711	CTGAGGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590998146	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1592490234	TCACCTCTGC>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1593379577	G>C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1594574182	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001329	hsa-miR-1-3p	pSILAC	18668040
MIRT019351	hsa-miR-148b-3p	Microarray	17612493
MIRT021329	hsa-miR-9-5p	Microarray	17612493
MIRT022525	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT001329	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT029291	hsa-miR-26b-5p	Microarray	19088304
MIRT032256	hsa-let-7b-5p	Proteomics	18668040
MIRT732926	hsa-miR-223-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	31712567
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637369	hsa-miR-4640-5p	CLIP-seq
MIRT2637370	hsa-miR-4642	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT2637375	hsa-miR-4726-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637376	hsa-miR-4760-3p	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IDA	24862572
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IDA	12408964
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12163176, 17462627, 18396275, 22632968, 28716842, 31413325, 33058875, 33393904
GO:0005521	Function	Lamin binding	IPI	11801724
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	11792814
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	24862572
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	11792814
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	12808039
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006997	Process	Nucleus organization	NAS	11792814
GO:0007030	Process	Golgi organization	IDA	12808039
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IDA	11792814
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	24862572
GO:0030017	Component	Sarcomere	IDA	12408964
GO:0030017	Component	Sarcomere	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0042692	Process	Muscle cell differentiation	IDA	11792814
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12163176
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	10878022
GO:0051015	Function	Actin filament binding	ISS
GO:0090292	Process	Nuclear matrix anchoring at nuclear membrane	IDA	11801724
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IEA

Other IDs

• MIM: 608441
• HGNC: 17089
• e!Ensembl: ENSG00000131018

Protein

• UniProt ID: Q8NF91
• Protein name: Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1)
• Protein function: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved
• PDB: 4DXR, 6R15, 6XF2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	27 → 135	Calponin homology (CH) domain	Domain
  PF00307	CH	178 → 284	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	3174 → 3277	Spectrin repeat	Domain
  PF00435	Spectrin	3816 → 3919	Spectrin repeat	Domain
  PF00435	Spectrin	5738 → 5835	Spectrin repeat	Domain
  PF00435	Spectrin	7022 → 7126	Spectrin repeat	Domain
  PF00435	Spectrin	7136 → 7233	Spectrin repeat	Domain
  PF00435	Spectrin	7352 → 7453	Spectrin repeat	Domain
  PF00435	Spectrin	7780 → 7882	Spectrin repeat	Domain
  PF00435	Spectrin	7885 → 7996	Spectrin repeat	Domain
  PF00435	Spectrin	8109 → 8211	Spectrin repeat	Domain
  PF00435	Spectrin	8440 → 8547	Spectrin repeat	Domain
  PF10541	KASH	8740 → 8797	Nuclear envelope localisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isofor
• Sequence:

  MATSRGASRCPRDIANVMQRLQDEQEIVQKRTFTKWINSHLAKRKPPMVVDDLFEDMKDG
  VKLLALLEVLSGQKLPCEQGRRMKRIHAVANIGTALKFLEGRKIKLVNINSTDIADGRPS
  IVLGLMWTIILYFQIEELTSNLPQLQSLSSSASSVDSIVSSETPSPPSKRKVTTKIQGNA
  KKALLKWVQYTAGKQTGIEVKDFGKSWRSGVAFHSVIHAIRPELVDLETVKGRSNRENLE
  DAFTIAETELGIPRLLDPEDVDVDKPDEKSIMTYVAQFLKHYPDIHNASTDGQEDDEILP
  GFPSFANSVQNFKREDRVIFKEMKVWIEQFERDLTRAQMVESNLQDKYQSFKHFRVQYEM
  KRKQIEHLIQPLHRDGKLSLDQALVKQSWDRVTSRLFDWHIQLDKSLPAPLGTIGAWLYR
  AEVALREEITVQQVHEETANTIQRKLEQHKDLLQNTDAHKRAFHEIYRTRSVNGIPVPPD
  QLEDMAERFHFVSSTSELHLMKMEFLELKYRLLSLLVLAESKLKSWIIKYGRRESVEQLL
  QNYVSFIENSKFFEQYEVTYQILKQTAEMYVKADGSVEEAENVMKFMNETTAQWRNLSVE
  VRSVRSMLEEVISNWDRYGNTVASLQAWLEDAEKMLNQSENAKKDFFRNLPHWIQQHTAM
  NDAGNFLIETCDEMVSRDLKQQLLLLNGRWRELFMEVKQYAQADEMDRMKKEYTDCVVTL
  SAFATEAHKKLSEPLEVSFMNVKLLIQDLEDIEQRVPVMDAQYKIITKTAHLITKESPQE
  EGKEMFATMSKLKEQLTKVKECYSPLLYESQQLLIPLEELEKQMTSFYDSLGKINEIITV
  LEREAQSSALFKQKHQELLACQENCKKTLTLIEKGSQSVQKFVTLSNVLKHFDQTRLQRQ
  IADIHVAFQSMVKKTGDWKKHVETNSRLMKKFEESRAELEKVLRIAQEGLEEKGDPEELL
  RRHTEFFSQLDQRVLNAFLKACDELTDILPEQEQQGLQEAVRKLHKQWKDLQGEAPYHLL
  HLKIDVEKNRFLASVEECRTELDRETKLMPQEGSEKIIKEHRVFFSDKGPHHLCEKRLQL
  IEELCVKLPVRDPVRDTPGTCHVTLKELRAAIDSTYRKLMEDPDKWKDYTSRFSEFSSWI
  STNETQLKGIKGEAIDTANHGEVKRAVEEIRNGVTKRGETLSWLKSRLKVLTEVSSENEA
  QKQGDELAKLSSSFKALVTLLSEVEKMLSNFGDCVQYKEIVKNSLEELISGSKEVQEQAE
  KILDTENLFEAQQLLLHHQQKTKRISAKKRDVQQQIAQAQQGEGGLPDRGHEELRKLEST
  LDGLERSRERQERRIQVTLRKWERFETNKETVVRYLFQTGSSHERFLSFSSLESLSSELE
  QTKEFSKRTESIAVQAENLVKEASEIPLGPQNKQLLQQQAKSIKEQVKKLEDTLEEDIKT
  MEMVKTKWDHFGSNFETLSVWITEKEKELNALETSSSAMDMQISQIKVTIQEIESKLSSI
  VGLEEEAQSFAQFVTTGESARIKAKLTQIRRYGEELREHAQCLEGTILGHLSQQQKFEEN
  LRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQALESLSSAITAFSASARKVV
  NRDSCVQEAAALQQQYEDILRRAKERQTALENLLAHWQRLEKELSSFLTWLERGEAKASS
  PEMDISADRVKVEGELQLIQALQNEVVSQASFYSKLLQLKESLFSVASKDDVKMMKLHLE
  QLDERWRDLPQIINKRINFLQSVVAEHQQFDELLLSFSVWIKLFLSELQTTSEISIMDHQ
  VALTRHKDHAAEVESKKGELQSLQGHLAKLGSLGRAEDLHLLQGKAEDCFQLFEEASQVV
  ERRQLALSHLAEFLQSHASLSGILRQLRQTVEATNSMNKNESDLIEKDLNDALQNAKALE
  SAAVSLDGILSKAQYHLKIGSSEQRTSCRATADQLCGEVERIQNLLGTKQSEADALAVLK
  KAFQDQKEELLKSIEDIEERTDKERLKEPTRQALQQRLRVFNQLEDELNSHEHELCWLKD
  KAKQIAQKDVAFAPEVDREINRLEVTWDDTKRLIHENQGQCCGLIDLMREYQNLKSAVSK
  VLENASSVIVTRTTIKDQEDLKWAFSKHETAKNKMNYKQKDLDNFTSKGKHLLSELKKIH
  SSDFSLVKTDMESTVDKWLDVSEKLEENMDRLRVSLSIWDDVLSTRDEIEGWSNNCVPQM
  AENISNLDNHLRAEELLKEFESEVKNKALRLEELHSKVNDLKELTKNLETPPDLQFIEAD
  LMQKLEHAKEITEVAKGTLKDFTAQSTQVEKFINDITTWFTKVEESLMNCAQNETCEALK
  KVKDIQKELQSQQSNISSTQENLNSLCRKYHSAELESLGRAMTGLIKKHEAVSQLCSKTQ
  ASLQESLEKHFSESMQEFQEWFLGAKAAAKESSDRTGDSKVLEAKLHDLQNILDSVSDGQ
  SKLDAVTQEGQTLYAHLSKQIVSSIQEQITKANEEFQAFLKQCLKDKQALQDCASELGSF
  EDQHRKLNLWIHEMEERFNTENLGESKQHIPEKKNEVHKVEMFLGELLAARESLDKLSQR
  GQLLSEEGHGAGQEGRLCSQLLTSHQNLLRMTKEKLRSCQVALQEHEALEEALQSMWFWV
  KAIQDRLACAESTLGSKDTLEKRLSQIQDILLMKGEGEVKLNMAIGKGEQALRSSNKEGQ
  RVIQTQLETLKEVWADIMSSSVHAQSTLESVISQWNDYVERKNQLEQWMESVDQKIEHPL
  QPQPGLKEKFVLLDHLQSILSEAEDHTRALHRLIAKSRELYEKTEDESFKDTAQEELKTQ
  FNDIMTVAKEKMRKVEEIVKDHLMYLDAVHEFTDWLHSAKEELHRWSDMSGDSSATQKKL
  SKIKELIDSREIGASRLSRVESLAPEVKQNTTASGCELMHTEMQALRADWKQWEDSVFQT
  QSCLENLVSQMALSEQEFSGQVAQLEQALEQFSALLKTWAQQLTLLEGKNTDEEIVECWH
  KGQEILDALQKAEPRTEDLKSQLNELCRFSRDLSTYSGKVSGLIKEYNCLCLQASKGCQN
  KEQILQQRFRKAFRDFQQWLVNAKITTAKCFDIPQNISEVSTSLQKIQEFLSESENGQHK
  LNMMLSKGELLSTLLTKEKAKGIQAKVTAAKEDWKNFHSNLHQKESALENLKIQMKDFEV
  SAEPIQDWLSKTEKMVHESSNRLYDLPAKRREQQKLQSVLEEIHCYEPQLNRLKEKAQQL
  WEGQAASKSFRHRVSQLSSQYLALSNLTKEKVSRLDRIVAEHNQFSLGIKELQDWMTDAI
  HMLDSYCHPTSDKSVLDSRTLKLEALLSVKQEKEIQMKMIVTRGESVLQNTSPEGIPTIQ
  QQLQSVKDMWASLLSAGIRCKSQLEGALSKWTSYQDGVRQFSGWMDSMEANLNESERQHA
  ELRDKTTMLGKAKLLNEEVLSYSSLLETIEVKGAGMTEHYVTQLELQDLQERYRAIQERA
  KEAVTKSEKLVRLHQEYQRDLKAFEVWLGQEQEKLDQYSVLEGDAHTHETTLRDLQELQV
  HCAEGQALLNSVLHTREDVIPSGIPQAEDRALESLRQDWQAYQHRLSETRTQFNNVVNKL
  RLMEQKFQQVDEWLKTAEEKVSPRTRRQSNRATKEIQLHQMKKWHEEVTAYRDEVEEVGA
  RAQEILDESHVNSRMGCQATQLTSRYQALLLQVLEQIKFLEEEIQSLEESESSLSSYSDW
  YGSTHKNFKNVATKIDKVDTVMMGKKLKTLEVLLKDMEKGHSLLKSAREKGERAVKYLEE
  GEAERLRKEIHDHMEQLKELTSTVRKEHMTLEKGLHLAKEFSDKCKALTQWIAEYQEILH
  VPEEPKMELYEKKAQLSKYKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKDKIDQLQ
  SDYQDLCSIGKEHVFSLEAKVKDHEDYNSELQEVEKWLLQMSGRLVAPDLLETSSLETIT
  QQLAHHKAMMEEIAGFEDRLNNLQMKGDTLIGQCADHLQAKLKQNVHAHLQGTKDSYSAI
  CSTAQRMYQSLEHELQKHVSRQDTLQQCQAWLSAVQPDLEPSPQPPLSRAEAIKQVKHFR
  ALQEQARTYLDLLCSMCDLSNASVKTTAKDIQQTEQTIEQKLVQAQNLTQGWEEIKHLKS
  ELWIYLQDADQQLQNMKRRHSELELNIAQNMVSQVKDFVKKLQSKQASVNTIIEKVNKLT
  KKEESPEHKEINHLNDQWLDLCRQSNNLCLQREEDLQRTRDYHDCMNVVEVFLEKFTTEW
  DNLARSDAESTAVHLEALKKLALALQERKYAIEDLKDQKQKMIEHLNLDDKELVKEQTSH
  LEQRWFQLEDLIKRKIQVSVTNLEELNVVQSRFQELMEWAEEQQPNIAEALKQSPPPDMA
  QNLLMDHLAICSELEAKQMLLKSLIKDADRVMADLGLNERQVIQKALSDAQSHVNCLSDL
  VGQRRKYLNKALSEKTQFLMAVFQATSQIQQHERKIMFREHICLLPDDVSKQVKTCKSAQ
  ASLKTYQNEVTGLWAQGRELMKEVTEQEKSEVLGKLQELQSVYDSVLQKCSHRLQELEKN
  LVSRKHFKEDFDKACHWLKQADIVTFPEINLMNESSELHTQLAKYQNILEQSPEYENLLL
  TLQRTGQTILPSLNEVDHSYLSEKLNALPRQFNVIVALAKDKFYKVQEAILARKEYASLI
  ELTTQSLSELEAQFLRMSKVPTDLAVEEALSLQDGCRAILDEVAGLGEAVDELNQKKEGF
  RSTGQPWQPDKMLHLVTLYHRLKRQTEQRVSLLEDTTSAYQEHEKMCQQLERQLKSVKEE
  QSKVNEETLPAEEKLKMYHSLAGSLQDSGIVLKRVTIHLEDLAPHLDPLAYEKARHQIQS
  WQGELKLLTSAIGETVTECESRMVQSIDFQTEMSRSLDWLRRVKAELSGPVYLDLNLQDI
  QEEIRKIQIHQEEVQSSLRIMNALSHKEKEKFTKAKELISADLEHSLAELSELDGDIQEA
  LRTRQATLTEIYSQCQRYYQVFQAANDWLEDAQELLQLAGNGLDVESAEENLKSHMEFFS
  TEDQFHSNLEELHSLVATLDPLIKPTGKEDLEQKVASLELRSQRMSRDSGAQVDLLQRCT
  AQWHDYQKAREEVIELMNDTEKKLSEFSLLKTSSSHEAEEKLSEHKALVSVVNSFHEKIV
  ALEEKASQLEKTGNDASKATLSRSMTTVWQRWTRLRAVAQDQEKILEDAVDEWTGFNNKV
  KKATEMIDQLQDKLPGSSAEKASKAELLTLLEYHDTFVLELEQQQSALGMLRQQTLSMLQ
  DGAAPTPGEEPPLMQEITAMQDRCLNMQEKVKTNGKLVKQELKDREMVETQINSVKCWVQ
  ETKEYLGNPTIEIDAQLEELQILLTEATNHRQNIEKMAEEQKEKYLGLYTILPSELSLQL
  AEVALDLKIRDQIQDKIKEVEQSKATSQELSRQIQKLAKDLTTILTKLKAKTDNVVQAKT
  DQKVLGEELDGCNSKLMELDAAVQKFLEQNGQLGKPLAKKIGKLTELHQQTIRQAENRLS
  KLNQAASHLEEYNEMLELILKWIEKAKVLAHGTIAWNSASQLREQYILHQTLLEESKEID
  SELEAMTEKLQYLTSVYCTEKMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAE
  LKKLQAALEQAQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKVQAVQLCQSALRIPE
  DVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQEAVVQYEQYEQEMKHLQQLIEGAHRE
  IEDKPVATSNIQELQAQISRHEELAQKIKGYQEQIASLNSKCKMLTMKAKHATMLLTVTE
  VEGLAEGTEDLDGELLPTPSAHPSVVMMTAGRCHTLLSPVTEESGEEGTNSEISSPPACR
  SPSPVANTDASVNQDIAYYQALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDL
  QRSWETLKNVISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQM
  AEHQALMDEILMLQDEINELQSSLAEELVSESCEADPAEQLALQSTLTVLAERMSTIRMK
  ASGKRQLLEEKLNDQLEEQRQEQALQRYRCEADELDSWLLSTKATLDTALSPPKEPMDME
  AQLMDCQNMLVEIEQKVVALSELSVHNENLLLEGKAHTKDEAEQLAGKLRRLKGSLLELQ
  RALHDKQLNMQGTAQEKEESDVDLTATQSPGVQEWLAQARTTWTQQRQSSLQQQKELEQE
  LAEQKSLLRSVASRGEEILIQHSAAETSGDAGEKPDVLSQELGMEGEKSSAEDQMRMKWE
  SLHQEFSTKQKLLQNVLEQEQEQVLYSRPNRLLSGVPLYKGDVPTQDKSAVTSLLDGLNQ
  AFEEVSSQSGGAKRQSIHLEQKLYDGVSATSTWLDDVEERLFVATALLPEETETCLFNQE
  ILAKDIKEMSEEMDKNKNLFSQAFPENGDNRDVIEDTLGCLLGRLSLLDSVVNQRCHQMK
  ERLQQILNFQNDLKVLFTSLADNKYIILQKLANVFEQPVAEQIEAIQQAEDGLKEFDAGI
  IELKRRGDKLQVEQPSMQELSKLQDMYDELMMIIGSRRSGLNQNLTLKSQYERALQDLAD
  LLETGQEKMAGDQKIIVSSKEEIQQLLDKHKEYFQGLESHMILTETLFRKIISFAVQKET
  QFHTELMAQASAVLKRAHKRGVELEYILETWSHLDEDQQELSRQLEVVESSIPSVGLVEE
  NEDRLIDRITLYQHLKSSLNEYQPKLYQVLDDGKRLLISISCSDLESQLNQLGECWLSNT
  NKMSKELHRLETILKHWTRYQSESADLIHWLQSAKDRLEFWTQQSVTVPQELEMVRDHLN
  AFLEFSKEVDAQSSLKSSVLSTGNQLLRLKKVDTATLRSELSRIDSQWTDLLTNIPAVQE
  KLHQLQMDKLPSRHAISEVMSWISLMENVIQKDEDNIKNSIGYKAIHEYLQKYKGFKIDI
  NCKQLTVDFVNQSVLQISSQDVESKRSDKTDFAEQLGAMNKSWQILQGLVTEKIQLLEGL
  LESWSEYENNVQCLKTWFETQEKRLKQQHRIGDQASVQNALKDCQDLEDLIKAKEKEVEK
  IEQNGLALIQNKKEDVSSIVMSTLRELGQTWANLDHMVGQLKILLKSVLDQWSSHKVAFD
  KINSYLMEARYSLSRFRLLTGSLEAVQVQVDNLQNLQDDLEKQERSLQKFGSITNQLLKE
  CHPPVTETLTNTLKEVNMRWNNLLEEIAEQLQSSKALLQLWQRYKDYSKQCASTVQQQED
  RTNELLKAATNKDIADDEVATWIQDCNDLLKGLGTVKDSLFFLHELGEQLKQQVDASAAS
  AIQSDQLSLSQHLCALEQALCKQQTSLQAGVLDYETFAKSLEALEAWIVEAEEILQGQDP
  SHSSDLSTIQERMEELKGQMLKFSSMAPDLDRLNELGYRLPLNDKEIKRMQNLNRHWSLI
  SSQTTERFSKLQSFLLQHQTFLEKCETWMEFLVQTEQKLAVEISGNYQHLLEQQRAHELF
  QAEMFSRQQILHSIIIDGQRLLEQGQVDDRDEFNLKLTLLSNQWQGVIRRAQQRRGIIDS
  QIRQWQRYREMAEKLRKWLVEVSYLPMSGLGSVPIPLQQARTLFDEVQFKEKVFLRQQGS
  YILTVEAGKQLLLSADSGAEAALQAELAEIQEKWKSASMRLEEQKKKLAFLLKDWEKCEK
  GIADSLEKLRTFKKKLSQSLPDHHEELHAEQMRCKELENAVGSWTDDLTQLSLLKDTLSA
  YISADDISILNERVELLQRQWEELCHQLSLRRQQIGERLNEWAVFSEKNKELCEWLTQME
  SKVSQNGDILIEEMIEKLKKDYQEEIAIAQENKIQLQQMGERLAKASHESKASEIEYKLG
  KVNDRWQHLLDLIAARVKKLKETLVAVQQLDKNMSSLRTWLAHIESELAKPIVYDSCNSE
  EIQRKLNEQQELQRDIEKHSTGVASVLNLCEVLLHDCDACATDAECDSIQQATRNLDRRW
  RNICAMSMERRLKIEETWRLWQKFLDDYSRFEDWLKSSERTAAFPSSSGVIYTVAKEELK
  KFEAFQRQVHECLTQLELINKQYRRLARENRTDSACSLKQMVHEGNQRWDNLQKRVTSIL
  RRLKHFIGQREEFETARDSILVWLTEMDLQLTNIEHFSECDVQAKIKQLKAFQQEISLNH
  NKIEQIIAQGEQLIEKSEPLDAAIIEEELDELRRYCQEVFGRVERYHKKLIRLPLPDDEH
  DLSDRELELEDSAALSDLHWHDRSADSLLSPQPSSNLSLSLAQPLRSERSGRDTPASVDS
  IPLEWDHDYDLSRDLESAMSRALPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGK
  ALDDSRFQIQQTENIIRSKTPTGPELDTSYKGYMKLLGECSSSIDSVKRLEHKLKEEEES
  LPGFVNLHSTETQTAGVIDRWELLQAQALSKELRMKQNLQKWQQFNSDLNSIWAWLGDTE
  EELEQLQRLELSTDIQTIELQIKKLKELQKAVDHRKAIILSINLCSPEFTQADSKESRDL
  QDRLSQMNGRWDRVCSLLEEWRGLLQDALMQCQGFHEMSHGLLLMLENIDRRKNEIVPID
  SNLDAEILQDHHKQLMQIKHELLESQLRVASLQDMSCQLLVNAEGTDCLEAKEKVHVIGN
  RLKLLLKEVSRHIKELEKLLDVSSSQQDLSSWSSADELDTSGSVSPTSGRSTPNRQKTPR
  GKCSLSQPGPSVSSPHSRSTKGGSDSSLSEPGPGRSGRGFLFRVLRAALPLQLLLLLLIG
  LACLVPMSEEDYSCALSNNFARSFHPMLRYTNGPPPL

• Sequence length: 8797

Pathways

KEGG:

Cytoskeleton in muscle cells

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
Abnormal central motor function	Likely pathogenic; Pathogenic	rs2153456779, rs763325410	RCV001814349 RCV001814183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the musculature	Likely pathogenic	rs1193193335	RCV001814324	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita 3, myogenic type	Pathogenic; Likely pathogenic	rs772587027, rs1562922141, rs368468256, rs2551032977, rs606231134, rs119103243, rs1586285494, rs1167251950, rs760715690, rs1368275632, rs145819043, rs760678661, rs1412791793, rs746177326, rs759460806	RCV006257336 RCV001813905 RCV002285129 RCV002285130 RCV005031382 RCV005041971 RCV000002425 RCV003991049 RCV000787308 RCV005412538 RCV003340971 RCV005358082 RCV005863221 RCV000787309 RCV005036235	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive ataxia, Beauce type	Pathogenic; Likely pathogenic	rs1563088209, rs2154133792, rs2154147676, rs2154157186, rs983431074, rs757719808, rs2154331501, rs1332414511, rs2153783491, rs2154019221, rs2154261629, rs762743107, rs138032057, rs2153537904, rs772587027, rs1417491327, rs2098158268, rs2154182611, rs2154254291, rs761432453, rs1193193335, rs1012514808, rs1213042460, rs761433022, rs771760718, rs2153836962, rs2096893099, rs1473936270, rs2154194664, rs1372915935, rs544985182, rs2154000325, rs2153970781, rs2154115529, rs1258745040, rs2153025020, rs2153809530, rs2154353746, rs2098527248, rs1270730854, rs2153409815, rs2154151091, rs777656140, rs2154170060, rs2153732048, rs988770583, rs2153619687, rs780634258, rs766129413, rs1291249200, rs2153709458, rs781655232, rs2153937126, rs750266004, rs2153903647, rs2153725036, rs606231292, rs2090447154, rs758379604, rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs2484737456, rs2499520024, rs769419654, rs2485325706, rs1478908449, rs794727577, rs1424284351, rs794727986, rs754518742, rs2488638913, rs1563130387, rs778979964, rs778686915, rs1167251950, rs2551881997, rs797045109, rs2485626958, rs2551694835, rs2552072090, rs797046025, rs797046024, rs797046026, rs749543411, rs2499274206, rs2552092384, rs2551505402, rs2490994680, rs2505832456, rs780451185, rs780991031, rs863224929, rs1229627235, rs2549722965, rs2550008477, rs2551617809, rs1422724926, rs2552083259, rs2551882028, rs2550229446, rs2549805387, rs2550010488, rs2551725763, rs1320406415, rs1399453825, rs886042421, rs2487562970, rs1368275632, rs752405799, rs2551882518, rs1562775040, rs1563075936, rs749419811, rs1305851892, rs2096803850, rs2500815673, rs1384323646, rs2551848818, rs2551698321, rs2501656603, rs2551324651, rs2485345197, rs930062661, rs760678661, rs2485294023, rs1057520134, rs910956017, rs1064796579, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs763325410, rs1554721227, rs375077588, rs1412791793, rs1554226673, rs1554768245, rs755531859, rs1385280819, rs1554247806, rs746328978, rs1564367104, rs750544827, rs768958602, rs1164612098, rs1563391747, rs1174316105, rs749432519, rs766499430, rs1563941569, rs1564136499, rs1269308421, rs1586296730, rs757744079, rs1466752822, rs1588855714, rs1590998146, rs1592490234, rs759460806, rs752224921, rs1590463470, rs771955377, rs1300885934, rs2098713648, rs549779256, rs2098101022, rs866163858, rs2096651533, rs2097516516, rs967105970, rs946657984, rs2096322248, rs1064794555, rs2083582255, rs781354327, rs775516009, rs778445117, rs2098603169	RCV001647180 RCV001647205 RCV001647181 RCV001647182 RCV001647204 RCV001647206 RCV001863182 RCV002284022 RCV001376188 RCV001379983 RCV001379981 RCV001376825 RCV001380022 RCV001381452 RCV001385856 RCV001383637 RCV001384162 RCV001386901 RCV001388829 RCV001528126 RCV001542657 RCV001542659 RCV001542660 RCV004770171 RCV005409826 RCV002539656 RCV002541166 RCV005860258 RCV002544274 RCV005213593 RCV003772157 RCV001959629 RCV001880547 RCV001924607 RCV001945112 RCV002018010 RCV001917653 RCV001970091 RCV001955680 RCV001985470 RCV002037066 RCV002014655 RCV002035307 RCV002000142 RCV001994488 RCV001962904 RCV001941907 RCV001941988 RCV001939575 RCV001939339 RCV001953450 RCV001880698 RCV002014118 RCV001956393 RCV002019445 RCV001980675 RCV000144953 RCV002272618 RCV002272679 RCV000002416 RCV000002417 RCV000002419 RCV000002420 RCV000002421 RCV002468800 RCV002468801 RCV002574704 RCV003037198 RCV003117949 RCV001852201 RCV002572684 RCV002271991 RCV002604424 RCV002658377 RCV000207339 RCV002705482 RCV002766430 RCV002780651 RCV002807180 RCV000190628 RCV002819781 RCV002776583 RCV002815068 RCV000194323 RCV000193929 RCV000194453 RCV002875865 RCV002852937 RCV002867235 RCV002966466 RCV002971243 RCV003000101 RCV000995657 RCV001090172 RCV000196238 RCV002996386 RCV003030804 RCV003008390 RCV002991776 RCV003006259 RCV003053705 RCV003030385 RCV003033181 RCV003062119 RCV003063952 RCV003148425 RCV003234805 RCV003159549 RCV005222865 RCV003234867 RCV003316917 RCV005227987 RCV003333346 RCV003338192 RCV003778221 RCV003779200 RCV003798347 RCV003792347 RCV003806119 RCV003804124 RCV003799354 RCV003794838 RCV003794965 RCV003797339 RCV003807204 RCV003809514 RCV003801666 RCV003985000 RCV003990303 RCV001207733 RCV000812312 RCV002526954 RCV000502725 RCV000499650 RCV000501178 RCV000499539 RCV000501654 RCV000503650 RCV000787307 RCV000556204 RCV001215868 RCV002532639 RCV000623194 RCV000625981 RCV000626168 RCV002534257 RCV000664234 RCV000692762 RCV000688252 RCV003768112 RCV003992377 RCV005209522 RCV001855798 RCV001390591 RCV005213398 RCV001216663 RCV000785038 RCV000785036 RCV000787306 RCV000805594 RCV000820027 RCV000805339 RCV000805626 RCV000816324 RCV000811482 RCV000002415 RCV002225123 RCV000995658 RCV000995884 RCV001046075 RCV001069953 RCV004768886 RCV001174535 RCV001195933 RCV001197058 RCV001198621 RCV001222138 RCV001213886 RCV001206224 RCV001261162 RCV001261163 RCV001261523 RCV003770400 RCV005225352 RCV001289554 RCV001289555	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive cerebellar ataxia	Likely pathogenic; Pathogenic	rs759460806	RCV000826129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs780991031	RCV001090172	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic; Pathogenic	rs1164612098	RCV005897245	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft lip/palate	Likely pathogenic; Pathogenic	rs746177326	RCV005626209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1A	Likely pathogenic	rs769963625	RCV002259537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Pathogenic; Likely pathogenic	rs2154331501, rs2154019221, rs2154261629, rs762743107, rs138032057, rs2153537904, rs772587027, rs1417491327, rs2098158268, rs2154182611, rs2154254291, rs771760718, rs2153836962, rs2096893099, rs2154194664, rs1372915935, rs544985182, rs2154000325, rs2153970781, rs2154115529, rs1258745040, rs2153025020, rs2153809530, rs2154353746, rs2098527248, rs1270730854, rs2153409815, rs2154151091, rs777656140, rs2154170060, rs2153732048, rs988770583, rs2153619687, rs780634258, rs766129413, rs1291249200, rs2153709458, rs781655232, rs2153937126, rs750266004, rs2153903647, rs2153725036, rs762660111, rs606231134, rs119103243, rs769419654, rs2485325706, rs1478908449, rs794727577, rs1424284351, rs794727986, rs754518742, rs2488638913, rs778979964, rs778686915, rs1167251950, rs2551881997, rs2485626958, rs2551694835, rs2552072090, rs797046025, rs749543411, rs2499274206, rs2552092384, rs2551505402, rs2490994680, rs2505832456, rs780451185, rs1229627235, rs2549722965, rs2550008477, rs2551617809, rs1422724926, rs2552083259, rs2551882028, rs2550229446, rs2549805387, rs2550010488, rs886042421, rs1368275632, rs752405799, rs2098644529, rs1563075936, rs2502507900, rs749419811, rs1305851892, rs2096803850, rs2500815673, rs1384323646, rs2551848818, rs2551698321, rs2501656603, rs2551324651, rs2485345197, rs930062661, rs1057520134, rs910956017, rs1064796579, rs763325410, rs1554721227, rs375077588, rs1412791793, rs1554451078, rs1385280819, rs746328978, rs1564367104, rs750544827, rs1164612098, rs1563391747, rs1174316105, rs749432519, rs766499430, rs1586909309, rs1586296730, rs757744079, rs1466752822, rs1588855714, rs1590998146, rs1592490234, rs759460806, rs752224921, rs1300885934, rs2098713648, rs549779256, rs2086610889, rs2097516516, rs967105970, rs946657984, rs781354327, rs775516009, rs778445117	RCV003323858 RCV001379983 RCV001379981 RCV001376825 RCV001380022 RCV001381452 RCV001385856 RCV001383637 RCV001384162 RCV001386901 RCV001388829 RCV003317511 RCV002539656 RCV002541166 RCV002544274 RCV005213593 RCV003772157 RCV001959629 RCV001880547 RCV001924607 RCV001945112 RCV002018010 RCV001917653 RCV001970091 RCV001955680 RCV001985470 RCV002037066 RCV002014655 RCV002035307 RCV002000142 RCV001994488 RCV001962904 RCV001941907 RCV001941988 RCV001939575 RCV001939339 RCV001953450 RCV001880698 RCV002014118 RCV001956393 RCV002019445 RCV001980675 RCV002293384 RCV000763141 RCV005041971 RCV002574704 RCV003037198 RCV003117949 RCV001852201 RCV002572684 RCV005213222 RCV002604424 RCV002658377 RCV002705482 RCV002766430 RCV002780651 RCV002807180 RCV002819781 RCV002776583 RCV002815068 RCV003765237 RCV002875865 RCV002852937 RCV002867235 RCV002966466 RCV002971243 RCV003000101 RCV001381375 RCV002996386 RCV003030804 RCV003008390 RCV002991776 RCV003006259 RCV003053705 RCV003030385 RCV003033181 RCV003062119 RCV003063952 RCV005222865 RCV005412538 RCV003324251 RCV003337737 RCV003778221 RCV003447803 RCV003779200 RCV003798347 RCV003792347 RCV003806119 RCV003804124 RCV003799354 RCV003794838 RCV003794965 RCV003797339 RCV003807204 RCV003809514 RCV003801666 RCV001207733 RCV000812312 RCV002526954 RCV005222991 RCV001388050 RCV001215868 RCV002532639 RCV000626156 RCV002534257 RCV000692762 RCV000688252 RCV003768112 RCV005209522 RCV001855798 RCV001390591 RCV005213398 RCV001216663 RCV000790956 RCV000805594 RCV000820027 RCV000805339 RCV000805626 RCV000816324 RCV000811482 RCV001383383 RCV002549102 RCV001046075 RCV001069953 RCV001169970 RCV001193565 RCV001222138 RCV001213886 RCV001206224 RCV003770400 RCV005225352 RCV001871729	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile amyotrophic lateral sclerosis	Pathogenic	rs775935265, rs2076486420	RCV001095483 RCV001095482	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2154331501	RCV001647253	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYNE1-related disorder	Pathogenic; Likely pathogenic	rs1563088209, rs2154331501, rs544985182, rs758379604, rs606231134, rs794727986, rs886042421, rs1563075936, rs2551776410, rs2551545295, rs1435803196, rs2497999874, rs570916267	RCV004727149 RCV004531115 RCV004536309 RCV004534027 RCV004734495 RCV004537518 RCV003993913 RCV004527831 RCV004534268 RCV004528707 RCV003404803 RCV003988329 RCV000779497	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Third degree atrioventricular block	Likely pathogenic	rs2488055697	RCV002305646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brain morphology	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive myogenic arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 1E	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR BLOCK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss muscular dystrophy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMG: myopathic abnormalities	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary liability to pressure palsies	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spherocytosis type 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shoulder girdle muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely 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
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16826517, 28278270		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30956756, 8840992		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21154739		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16826517, 28278270		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25681989	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	20375995	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30229893		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30229893		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	33949037	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	34344401	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	19542096, 27178001		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	27178001, 27782104, 35595401, 35739559	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27445529	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27178001, 29915382	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	29915382	Associate	★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	29509064		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	40076866	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	31674007	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23352163		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	BEFREE	28398466, 29487227		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive ataxia, Beauce type	Ataxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal Recessive Cerebellar Ataxia Type 1	Cerebellar Ataxia	ORPHANET_DG	17159980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Cerebellar Ataxia Type 1	Cerebellar Ataxia	BEFREE	28017257, 28687974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Cerebellar Ataxia Type 1	Cerebellar ataxia	Pubtator	35595401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive myogenic arthrogryposis multiplex congenita	Myogenic Arthrogryposis Multiplex Congenita	ORPHANET_DG	19542096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive myogenic arthrogryposis multiplex congenita	Myogenic Arthrogryposis Multiplex Congenita	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	29509064	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	20351715, 21926972, 23453885, 28072414, 28115744, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	21926972, 23070075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22565781, 24387768, 27620326, 28178086, 30610203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22565781, 23820096, 24387768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24387768, 30610203, 31236099, 40562893	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10680842, 9415889		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32734521, 34888385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	8840992		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35602894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30956756		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	20056644, 37762518	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25184692, 35886066, 37480572	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39473430	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20056644		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19944109, 24586179, 31103315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	28594148, 35595401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28594148, 33949037	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28398466, 29487227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28398466, 29487227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	27086870, 27178001, 27782104, 29482223, 34663476, 38136976	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Ataxia, Late Onset	Cerebellar Ataxia	BEFREE	28687974		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	23959263		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	31049853		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	35595401	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16826517, 28278270		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27178001, 35595401	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24280874		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31501460		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24280874, 25538088, 25749350		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25538088, 28058013, 33714943	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	28818390		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	28583108	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	27864399	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21615918		★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24135662, 29432878, 30229893, 30610203		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23828647		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	27782104		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emery-Dreifuss Muscular Dystrophy 4	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG	17159980, 23959263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss Muscular Dystrophy 4	Emery-Dreifuss Muscular Dystrophy	UNIPROT_DG	17761684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss Muscular Dystrophy 4	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG	19542096, 24123876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	28537267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	GWASCAT_DG	28537267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20056644		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23691048, 25567773, 28300071, 28686109, 29643275		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	31990679	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	18697824		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	29509064		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21649900	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26258493		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21555372		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19008300		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30610203	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21154739		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24123876		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia	Leukemia	Pubtator	26308964	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28278270		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28278270		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15958540, 31428857		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19017733	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	27750045	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	27750045		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	27979987, 28178086		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	28178086	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	28178086		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	20351715, 22472876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	20351715, 23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	28989100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31741263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30956756		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20056644		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31063245		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20056644, 28160000, 28738357, 30343151, 31741263		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31501460		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	28738357		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21615918, 27115178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	24135662, 29432878, 30229893, 30610203		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27620326		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	25315199		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	25315199	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	26197428, 27838450		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38136976	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	30573412		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28017257		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	27178001	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	LHGDN	17761684		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	22555292	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	22555292, 23671687, 28583108	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	22555292		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	17761684, 19008300, 19864491, 22555292, 23456229, 28583108, 30573412		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	40076866	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28398466, 29487227		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	32231000	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	30425655		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	CTD_human_DG	24952746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10680842, 11059693, 11401322, 11912146, 15958540, 17510425, 18339850, 18594008, 24280874, 28160000		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	27178001, 27782104, 33567613	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	27782104		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	28738357		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20056644		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20056644, 37762518	Associate	★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	22482962		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	30194396, 31249589, 31649266		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31063245		★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	22565781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent major depressive episodes	Mental Depression	PSYGENET_DG	22565781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24387768	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	27269479, 27620326, 30610203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28195350		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	BEFREE	22287014		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 8	Spinocerebellar Ataxia	BEFREE	31103315		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	27178001		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)	Spinocerebellar Ataxia	CLINVAR_DG	17159980, 23325900, 23959263, 28687974		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)	Spinocerebellar Ataxia	ORPHANET_DG	17159980		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	24123876, 27086870		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	27178001, 35595401	Associate	★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30956756		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23283737		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37340028, 37373553	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33530176, 34095982	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28952189		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28989100		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37247272	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	30194396, 31249589, 31649266		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	33949037	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular septal hypertrophy	Ventricular Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only