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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23224
Gene name	Spectrin repeat containing nuclear envelope protein 2
Gene symbol	SYNE2
Synonyms (NCBI Gene)	EDMD5KASH2NUANUANCENesp2Nesprin-2SYNE-2TROPH
Chromosome	14
Chromosome location	14q23.2
Summary	The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs36215895	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs74975380	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs112833938	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs138514054	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs138644399	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs138769395	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs138797058	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs140265039	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs140897155	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs141051652	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs141379692	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs143578863	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs143927906	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs144143344	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs144596211	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs145036293	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs146573874	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs148708516	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs149296737	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs149978500	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs186839881	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, upstream transcript variant, missense variant
rs187859624	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs192128801	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200061977	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs200742016	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200893674	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs200937358	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs201176149	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201466326	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs370541277	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs370800852	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs372251838	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs373646325	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs374751877	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs745516407	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs755277543	TTCT>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, genic downstream transcript variant
rs768388576	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, genic downstream transcript variant
rs778028287	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs786205488	C>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1064797188	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001498	hsa-miR-155-5p	pSILAC	18668040
MIRT016274	hsa-miR-193b-3p	Microarray	20304954
MIRT019254	hsa-miR-148b-3p	Microarray	17612493
MIRT001498	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT021366	hsa-miR-9-5p	Microarray	17612493
MIRT023596	hsa-miR-1-3p	Proteomics	18668040
MIRT025264	hsa-miR-34a-5p	Proteomics	21566225
MIRT025264	hsa-miR-34a-5p	Proteomics	21566225
MIRT029118	hsa-miR-26b-5p	Microarray	19088304
MIRT030732	hsa-miR-21-5p	Microarray	18591254
MIRT052060	hsa-let-7b-5p	CLASH	23622248
MIRT041646	hsa-miR-484	CLASH	23622248
MIRT439502	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT439501	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT439500	hsa-miR-543	HITS-CLIP	24374217
MIRT439502	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT439501	hsa-miR-376a-5p	HITS-CLIP	24374217
MIRT439500	hsa-miR-543	HITS-CLIP	24374217
MIRT1405707	hsa-miR-1202	CLIP-seq
MIRT1405708	hsa-miR-1204	CLIP-seq
MIRT1405709	hsa-miR-146b-3p	CLIP-seq
MIRT1405710	hsa-miR-22	CLIP-seq
MIRT1405711	hsa-miR-3130-3p	CLIP-seq
MIRT1405712	hsa-miR-3173-5p	CLIP-seq
MIRT1405713	hsa-miR-3185	CLIP-seq
MIRT1405714	hsa-miR-3194-5p	CLIP-seq
MIRT1405715	hsa-miR-3198	CLIP-seq
MIRT1405716	hsa-miR-320a	CLIP-seq
MIRT1405717	hsa-miR-320b	CLIP-seq
MIRT1405718	hsa-miR-320c	CLIP-seq
MIRT1405719	hsa-miR-320d	CLIP-seq
MIRT1405720	hsa-miR-330-3p	CLIP-seq
MIRT1405721	hsa-miR-371b-5p	CLIP-seq
MIRT1405722	hsa-miR-378g	CLIP-seq
MIRT1405723	hsa-miR-3926	CLIP-seq
MIRT1405724	hsa-miR-3972	CLIP-seq
MIRT1405725	hsa-miR-4270	CLIP-seq
MIRT1405726	hsa-miR-4292	CLIP-seq
MIRT1405727	hsa-miR-4309	CLIP-seq
MIRT1405728	hsa-miR-4422	CLIP-seq
MIRT1405729	hsa-miR-4429	CLIP-seq
MIRT1405730	hsa-miR-4437	CLIP-seq
MIRT1405731	hsa-miR-4441	CLIP-seq
MIRT1405732	hsa-miR-4539	CLIP-seq
MIRT1405733	hsa-miR-4660	CLIP-seq
MIRT1405734	hsa-miR-4674	CLIP-seq
MIRT1405735	hsa-miR-4685-5p	CLIP-seq
MIRT1405736	hsa-miR-4698	CLIP-seq
MIRT1405737	hsa-miR-4731-5p	CLIP-seq
MIRT1405738	hsa-miR-4762-3p	CLIP-seq
MIRT1405739	hsa-miR-4793-3p	CLIP-seq
MIRT1405740	hsa-miR-509-3p	CLIP-seq
MIRT1405741	hsa-miR-548a-3p	CLIP-seq
MIRT1405742	hsa-miR-548aa	CLIP-seq
MIRT1405743	hsa-miR-548e	CLIP-seq
MIRT1405744	hsa-miR-548f	CLIP-seq
MIRT1405745	hsa-miR-548s	CLIP-seq
MIRT1405746	hsa-miR-555	CLIP-seq
MIRT1405747	hsa-miR-568	CLIP-seq
MIRT1405748	hsa-miR-587	CLIP-seq
MIRT1405749	hsa-miR-874	CLIP-seq
MIRT1405750	hsa-miR-106a	CLIP-seq
MIRT1405751	hsa-miR-106b	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405753	hsa-miR-1271	CLIP-seq
MIRT1405754	hsa-miR-1276	CLIP-seq
MIRT1405755	hsa-miR-17	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405757	hsa-miR-20a	CLIP-seq
MIRT1405758	hsa-miR-20b	CLIP-seq
MIRT1405759	hsa-miR-2278	CLIP-seq
MIRT1405760	hsa-miR-302a	CLIP-seq
MIRT1405761	hsa-miR-302b	CLIP-seq
MIRT1405762	hsa-miR-302c	CLIP-seq
MIRT1405763	hsa-miR-302d	CLIP-seq
MIRT1405764	hsa-miR-302e	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT1405766	hsa-miR-3686	CLIP-seq
MIRT1405767	hsa-miR-372	CLIP-seq
MIRT1405768	hsa-miR-373	CLIP-seq
MIRT1405769	hsa-miR-4267	CLIP-seq
MIRT1405770	hsa-miR-4468	CLIP-seq
MIRT1405771	hsa-miR-4642	CLIP-seq
MIRT1405772	hsa-miR-4652-3p	CLIP-seq
MIRT1405733	hsa-miR-4660	CLIP-seq
MIRT1405773	hsa-miR-4699-3p	CLIP-seq
MIRT1405774	hsa-miR-4719	CLIP-seq
MIRT1405775	hsa-miR-4724-5p	CLIP-seq
MIRT1405776	hsa-miR-485-3p	CLIP-seq
MIRT1405777	hsa-miR-495	CLIP-seq
MIRT1405778	hsa-miR-513b	CLIP-seq
MIRT1405779	hsa-miR-519d	CLIP-seq
MIRT1405780	hsa-miR-520a-3p	CLIP-seq
MIRT1405781	hsa-miR-520b	CLIP-seq
MIRT1405782	hsa-miR-520c-3p	CLIP-seq
MIRT1405783	hsa-miR-520d-3p	CLIP-seq
MIRT1405784	hsa-miR-520e	CLIP-seq
MIRT1405785	hsa-miR-520f	CLIP-seq
MIRT1405786	hsa-miR-520g	CLIP-seq
MIRT1405787	hsa-miR-520h	CLIP-seq
MIRT1405747	hsa-miR-568	CLIP-seq
MIRT1405788	hsa-miR-636	CLIP-seq
MIRT1405789	hsa-miR-664	CLIP-seq
MIRT1405790	hsa-miR-760	CLIP-seq
MIRT1405791	hsa-miR-766	CLIP-seq
MIRT1405792	hsa-miR-873	CLIP-seq
MIRT1405793	hsa-miR-93	CLIP-seq
MIRT1405794	hsa-miR-96	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405753	hsa-miR-1271	CLIP-seq
MIRT2343678	hsa-miR-1297	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT2343679	hsa-miR-26a	CLIP-seq
MIRT2343680	hsa-miR-26b	CLIP-seq
MIRT1405766	hsa-miR-3686	CLIP-seq
MIRT2343681	hsa-miR-4465	CLIP-seq
MIRT1405771	hsa-miR-4642	CLIP-seq
MIRT1405772	hsa-miR-4652-3p	CLIP-seq
MIRT1405773	hsa-miR-4699-3p	CLIP-seq
MIRT1405774	hsa-miR-4719	CLIP-seq
MIRT1405794	hsa-miR-96	CLIP-seq
MIRT1405752	hsa-miR-1256	CLIP-seq
MIRT1405756	hsa-miR-182	CLIP-seq
MIRT1405765	hsa-miR-323-3p	CLIP-seq
MIRT2637386	hsa-miR-219-5p	CLIP-seq
MIRT2637387	hsa-miR-4445	CLIP-seq
MIRT2637388	hsa-miR-4782-3p	CLIP-seq
MIRT2637389	hsa-miR-508-3p	CLIP-seq
MIRT1405748	hsa-miR-587	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005515	Function	Protein binding	IPI	15671068, 17462627, 18396275, 19933576, 22555292, 22632968, 23414517, 23977161, 24880667, 26506308, 28716842, 30833792, 32296183, 33058875, 34818527
GO:0005634	Component	Nucleus	IDA	12118075
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	15671068
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	12118075, 15671068
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	15671068
GO:0005739	Component	Mitochondrion	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IDA	15671068
GO:0005925	Component	Focal adhesion	IEA
GO:0005929	Component	Cilium	IDA
GO:0007097	Process	Nuclear migration	IEA
GO:0007097	Process	Nuclear migration	IMP	20724637
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	15671068
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0021817	Process	Nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration	IEA
GO:0030016	Component	Myofibril	IEA
GO:0030018	Component	Z disc	IDA	15671068
GO:0030018	Component	Z disc	IEA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0031022	Process	Nuclear migration along microfilament	IEA
GO:0031022	Process	Nuclear migration along microfilament	ISS
GO:0031258	Component	Lamellipodium membrane	IDA	15671068
GO:0031527	Component	Filopodium membrane	IDA	15671068
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031981	Component	Nuclear lumen	IDA	15671068
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0051642	Process	Centrosome localization	IEA
GO:0051642	Process	Centrosome localization	IMP	20724637
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0070161	Component	Anchoring junction	IEA
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IEA
GO:1902017	Process	Regulation of cilium assembly	IEA

MIM	HGNC	e!Ensembl
608442	17084	ENSG00000054654

Q8WXH0

Protein name

Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2)

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

4DXS , 4FI9 , 6XF1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	31 → 137	Calponin homology (CH) domain	Domain
PF00307	CH	181 → 287	Calponin homology (CH) domain	Domain
PF00435	Spectrin	6023 → 6133	Spectrin repeat	Domain
PF00435	Spectrin	6136 → 6242	Spectrin repeat	Domain
PF00435	Spectrin	6551 → 6658	Spectrin repeat	Domain
PF10541	KASH	6828 → 6885	Nuclear envelope localisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart. {ECO:0000269|PubMed:156710

Sequence

MASSPELPTEDEQGSWGIDDLHISLQAEQEDTQKKAFTCWINSQLARHTSPSVISDLFTD
IKKGHVLLDLLEVLSGQQLPRDKGSNTFQCRINIEHALTFLRNRSIKLINIHVTDIIDGN
PSIILGLIWTIILHFHIEKLAQTLSCNYNQPSLDDVSVVDSSPASSPPAKKCSKVQARWQ
MSARKALLLWAQEQCATYESVNVTDFKSSWRNGMAFLAIIHALRPDLIDMKSVKHRSNKD
NLREAFRIAEQELKIPRLLEPEDVDVVDPDEKSIMTYVAQFLQYSKDAPGTGEEAQGKVK
DAMGWLTLQKEKLQKLLKDSENDTYFKKYNSLLSFMESFNEEKKSFLDVLSIKRDLDELD
KDHLQLREAWDGLDHQINAWKIKLNYALPPPLHQTEAWLQEVEELMDEDLSASQDHSQAV
TLIQEKMTLFKSLMDRFEHHSNILLTFENKDENHLPLVPPNKLEEMKRRINNILEKKFIL
LLEFHYYKCLVLGLVDEVKSKLDIWNIKYGSRESVELLLEDWHKFIEEKEFLARLDTSFQ
KCGEIYKNLAGECQNINKQYMMVKSDVCMYRKNIYNVKSTLQKVLACWATYVENLRLLRA
CFEETKKEEIKEVPFETLAQWNLEHATLNEAGNFLVEVSNDVVGSSISKELRRLNKRWRK
LVSKTQLEMNLPLMIKKQDQPTFDNSGNILSKEEKATVEFSTDMSVELPENYNQNIKAGE
KHEKENEEFTGQLKVAKDVEKLIGQVEIWEAEAKSVLDQDDVDTSMEESLKHLIAKGSMF
DELMARSEDMLQMDIQNISSQESFQHVLTTGLQAKIQEAKEKVQINVVKLIAALKNLTDV
SPDLDIRLKMEESQKELESYMMRAQQLLGQRESPGELISKHKEALIISNTKSLAKYLKAV
EELKNNVTEDIKMSLEEKSRDVCAKWESLHHELSLYVQQLKIDIEKGKLSDNILKLEKQI
NKEKKLIRRGRTKGLIKEHEACFSEEGCLYQLNHHMEVLRELCEELPSQKSQQEVKRLLK
DYEQKIERLLKCASEIHMTLQPTAGGTSKNEGTITTSENRGGDPHSEAPFAKSDNQPSTE
KAMEPTMKFSLASVLRPLQEESIMEKDYSASINSLLERYDTYRDILEHHLQNNKFRITSD
FSSEEDRSSSCLQAKLTDLQVIKNETDARWKEFEIISLKLENHVNDIKKPFVIKERDTLK
ERERELQMTLNTRMESLETALRLVLPVEKASLLLCGSDLPLHKMAIQGFHLIDADRIYQH
LRNIQDSIAKQIEICNRLEEPGNFVLKELHPFDLHAMQNIILKYKTQFEGMNHRVQRSED
TLKALEDFLASLRTAKLSAEPVTDLSASDTQVAQENTLTVKNKEGEIHLMKDKAKHLDKC
LKMLDMSFKDAERGDDTSCENLLDAFSIKLSETHGYGVQEEFTEENKLLEACIFKNNELL
KNIQDVQSQISKIGLKDPTVPAVKHRKKSLIRLDKVLDEYEEEKRHLQEMANSLPHFKDG
REKTVNQQCQNTVVLWENTKALVTECLEQCGRVLELLKQYQNFKSILTTLIQKEESVISL
QASYMGKENLKKRIAEIEIVKEEFNEHLEVVDKINQVCKNLQFYLNKMKTFEEPPFEKEA
NIIVDRWLDINEKTEDYYENLGRALALWDKLFNLKNVIDEWTEKALQKMELHQLTEEDRE
RLKEELQVHEQKTSEFSRRVAEIQFLLQSSEIPLELQVMESSILNKMEHVQKCLTGESNC
HALSGSTAELREDLDQAKTQIGMTESLLKALSPSDSLEIFTKLEEIQQQILQQKHSMILL
ENQIGCLTPELSELKKQYESVSDLFNTKKSVLQDHFSKLLNDQCKNFNDWFSNIKVNLKE
CFESSETKKSVEQKLQKLSDFLTLEGRNSKIKQVDSVLKHVKKHLPKAHVKELISWLVGQ
EFELEKMESICQARAKELEDSLQQLLRLQDDHRNLRKWLTNQEEKWKGMEEPGEKTELFC
QALARKREQFESVAQLNNSLKEYGFTEEEEIIMEATCLMDRYQTLLRQLSEIEEEDKLLP
TEDQSFNDLAHDVIHWIKEIKESLMVLNSSEGKMPLEERIQKIKEIILLKPEGDARIETI
MKQAESSEAPLVQKTLTDISNQWDNTLHLASTYLSHQEKLLLEGEKYLQSKEDLRLMLIE
LKKKQEAGFALQHGLQEKKAQLKIYKKFLKKAQDLTSLLKELKSQGNYLLECTKNPSFSE
EPWLEIKHLHESLLQQLQDSVQNLDGHVREHDSYQVCVTDLNTTLDNFSKEFVSFSDKPV
DQIAVEEKLQKLQELENRLSLQDGTLKKILALAKSVKQNTSSVGQKIIKDDIKSLQCKQK
DLENRLASAKQEMECCLNSILKSKRSTEKKGKFTLPGREKQATSDVQESTQESAAVEKLE
EDWEINKDSAVEMAMSKQLSLNAQESMKNTEDERKVNELQNQPLELDTMLRNEQLEEIEK
LYTQLEAKKAAIKPLEQTECLNKTETGALVLHNIGYSAQHLDNLLQALITLKKNKESQYC
VLRDFQEYLAAVESSMKALLTDKESLKVGPLDSVTYLDKIKKFIASIEKEKDSLGNLKIK
WENLSNHVTDMDKKLLESQIKQLEHGWEQVEQQIQKKYSQQVVEYDEFTTLMNKVQDTEI
SLQQQQQHLQLRLKSPEERAGNQSMIALTTDLQATKHGFSVLKGQAELQMKRIWGEKEKK
NLEDGINNLKKQWETLEPLHLEAENQIKKCDIRNKMKETILWAKNLLGELNPSIPLLPDD
ILSQIRKCKVTHDGILARQQSVESLAEEVKDKVPSLTTYEGSDLNNTLEDLRNQYQMLVL
KSTQRSQQLEFKLEERSNFFAIIRKFQLMVQESETLIIPRVETAATEAELKHHHVTLEAS
QKELQEIDSGISTHLQELTNIYEELNVFERLFLEDQLKNLKIRTNRIQRFIQNTCNEVEH
KIKFCRQFHEKTSALQEEADSIQRNELLLNQEVNKGVKEEIYNLKDRLTAIKCCILQVLK
LKKVFDYIGLNWDFSQLDQLQTQVFEKEKELEEKIKQLDTFEEEHGKYQALLSKMRAIDL
QIKKMTEVVLKAPDSSPESRRLNAQILSQRIEKAKCLCDEIIKKLNENKTFDDSFKEKEI
LQIKLNAEENDKLYKVLQNMVLELSPKELDEKNCQDKLETSLHVLNQIKSQLQQPLLINL
EIKHIQNEKDNCEAFQEQVWAEMCSIKAVTAIEKQREENSSEASDVETKLREFEDLQMQL
NTSIDLRTNVLNDAYENLTRYKEAVTRAVESITSLEAIIIPYRVDVGNPEESLEMPLRKQ
EELESTVAHIQDLTEKLGMISSPEAKLQLQYTLQELVSKNSAMKEAFKAQETEAERYLEN
YKCYRKMEEDIYTNLSKMETVLGQSMSSLPLSYREALERLEQSKALVSNLISTKEELMKL
RQILRLLRLRCTENDGICLLKIVSALWEKWLSLLEAAKEWEMWCEELKQEWKFVSEEIER
EAIILDNLQEELPEISKTKEAATTEELSELLDCLCQYGENVEKQQLLLTLLLQRIRSIQN
VPESSGAVETVPAFQEITSMKERCNKLLQKVQKNKELVQTEIQERHSFTKEIIALKNFFQ
QTTTSFQNMAFQDHPEKSEQFEELQSILKKGKLTFENIMEKLRIKYSEMYTIVPAEIESQ
VEECRKALEDIDEKISNEVLKSSPSYAMRRKIEEINNGLHNVEKMLQQKSKNIEKAQEIQ
KKMWDELDLWHSKLNELDSEVQDIVEQDPGQAQEWMDNLMIPFQQYQQVSQRAECRTSQL
NKATVKMEEYSDLLKSTEAWIENTSHLLANPADYDSLRTLSHHASTVQMALEDSEQKHNL
LHSIFMDLEDLSIIFETDELTQSIQELSNQVTALQQKIMESLPQIQRMADDVVAIESEVK
SMEKRVSKIKTILLSKEIFDFSPEEHLKHGEVILENIRPMKKTIAEIVSYQVELRLPQTG
MKPLPVFQRTNQLLQDIKLLENVTQEQNELLKVVIKQTNEWDEEIENLKQILNNYSAQFS
LEHMSPDQADKLPQLQGEIERMEKQILSLNQRKEDLLVDLKATVLNLHQHLKQEQEGVER
DRLPAVTSEEGGVAERDASERKLNRRGSMSYLAAVEEEVEESSVKSDNGDEKAEPSPQSW
SSLWKHDKDMEEDRASSSSGTIVQEAYGKISTSDNSMAQILTPDSLNTEQGPECSLRPNQ
TEEGTTPPIEADTLDSSDAQGGLEPRVEKTRPEPTEVLHACKTQVAELELWLQQANVAVE
PETLNADMQQVLEQQLVGCQAMLTEIEHKVAFLLETCKDQGLGDNGATQHEAEALSLKLK
TVKCNLEKVQMMLQEKHSEDQHPTILKKSSEPEHQEALQPVNLSELESIVTERPQFSRQK
DFQQQQVLELKPMEQKDFIKFIEFNAKKMWPQYCQHDNDTTQESSASNQASSPENDVPDS
ILSPQGQNGDKWQYLHHELSSKIKLPLPQLVEPQVSTNMGILPSVTMYNFRYPTTEELKT
YTTQLEDLRQEASNLQTQENMTEEAYINLDKKLFELFLTLSQCLSSVEEMLEMPRLYRED
GSGQQVHYETLALELKKLYLALSDKKGDLLKAMTWPGENTNLLLECFDNLQVCLEHTQAA
AVCRSKSLKAGLDYNRSYQNEIKRLYHQLIKSKTSLQQSLNEISGQSVAEQLQKADAYTV
ELENAESRVAKLRDEGERLHLPYALLQEVYKLEDVLDSMWGMLRARYTELSSPFVTESQQ
DALLQGMVELVKIGKEKLAHGHLKQTKSKVALQAQIENHKVFFQKLVADMLLIQAYSAKI
LPSLLQNRETFWAEQVTEVKILEEKSRQCGMKLQSLLQKWEEFDENYASLEKDLEILIST
LPSVSLVEETEERLVERISFYQQIKRNIGGKHARLYQTLNEGKQLVASVSCPELEGQIAK
LEEQWLSLNKKIDHELHRLQALLKHLLSYNRDSDQLTKWLESSQHTLNYWKEQSLNVSQD
LDTIRSNINNFFEFSKEVDEKSSLKTAVISIGNQLLHLKETDTATLRASLAQFEQKWTML
ITQLPDIQEKLHQLQMEKLPSRKAITEMISWMNNVEHQTSDEDSVHSPSSASQVKHLLQK
HKEFRMEMDYKQWIVDFVNQSLLQLSTCDVESKRYERTEFAEHLGEMNRQWHRVHGMLNR
KIQHLEQLLESITESENKIQILNNWLEAQEERLKTLQKPESVISVQKLLLDCQDIENQLA
IKSKALDELKQSYLTLESGAVPLLEDTASRIDELFQKRSSVLTQVNQLKTSMQSVLQEWK
IYDQLYDEVNMMTIRFWYCMEHSKPVVLSLETLRCQVENLQSLQDEAESSEGSWEKLQEV
IGKLKGLCPSVAEIIEEKCQNTHKRWTQVNQAIADQLQKAQSLLQLWKAYSNAHGEAAAR
LKQQEAKFQQLANISMSGNNLAEILPPALQDIKELQHDVQKTKEAFLQNSSVLDRLPQPA
ESSTHMLLPGPLHSLQRAAYLEKMLLVKANEFEFVLSQFKDFGVRLESLKGLIMHEEENL
DRLHQQEKENPDSFLNHVLALTAQSPDIEHLNEVSLKLPLSDVAVKTLQNMNRQWIRATA
TALERCSELQGIGLNEKFLYCCEKWIQLLEKIEEALKVDVANSLPELLEQQKTYKMLEAE
VSINQTIADSYVTQSLQLLDTTEIENRPEFITEFSKLTDRWQNAVQGVRQRKGDVDGLVR
QWQDFTTSVENLFRFLTDTSHLLSAVKGQERFSLYQTRSLIHELKNKEIHFQRRRTTCAL
TLEAGEKLLLTTDLKTKESVGRRISQLQDSWKDMEPQLAEMIKQFQSTVETWDQCEKKIK
ELKSRLQVLKAQSEDPLPELHEDLHNEKELIKELEQSLASWTQNLKELQTMKADLTRHVL
VEDVMVLKEQIEHLHRQWEDLCLRVAIRKQEIEDRLNTWVVFNEKNKELCAWLVQMENKV
LQTADISIEEMIEKLQKDCMEEINLFSENKLQLKQMGDQLIKASNKSRAAEIDDKLNKIN
DRWQHLFDVIGSRVKKLKETFAFIQQLDKNMSNLRTWLARIESELSKPVVYDVCDDQEIQ
KRLAEQQDLQRDIEQHSAGVESVFNICDVLLHDSDACANETECDSIQQTTRSLDRRWRNI
CAMSMERRMKIEETWRLWQKFLDDYSRFEDWLKSAERTAACPNSSEVLYTSAKEELKRFE
AFQRQIHERLTQLELINKQYRRLARENRTDTASRLKQMVHEGNQRWDNLQRRVTAVLRRL
RHFTNQREEFEGTRESILVWLTEMDLQLTNVEHFSESDADDKMRQLNGFQQEITLNTNKI
DQLIVFGEQLIQKSEPLDAVLIEDELEELHRYCQEVFGRVSRFHRRLTSCTPGLEDEKEA
SENETDMEDPREIQTDSWRKRGESEEPSSPQSLCHLVAPGHERSGCETPVSVDSIPLEWD
HTGDVGGSSSHEEDEEGPYYSALSGKSISDGHSWHVPDSPSCPEHHYKQMEGDRNVPPVP
PASSTPYKPPYGKLLLPPGTDGGKEGPRVLNGNPQQEDGGLAGITEQQSGAFDRWEMIQA
QELHNKLKIKQNLQQLNSDISAITTWLKKTEAELEMLKMAKPPSDIQEIELRVKRLQEIL
KAFDTYKALVVSVNVSSKEFLQTESPESTELQSRLRQLSLLWEAAQGAVDSWRGGLRQSL
MQCQDFHQLSQNLLLWLASAKNRRQKAHVTDPKADPRALLECRRELMQLEKELVERQPQV
DMLQEISNSLLIKGHGEDCIEAEEKVHVIEKKLKQLREQVSQDLMALQGTQNPASPLPSF
DEVDSGDQPPATSVPAPRAKQFRAVRTTEGEEETESRVPGSTRPQRSFLSRVVRAALPLQ
LLLLLLLLLACLLPSSEEDYSCTQANNFARSFYPMLRYTNGPPPT

Sequence length

6885

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral palsy	Pathogenic	rs2153715439	RCV001796571	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Pathogenic; Likely pathogenic	rs1323140900, rs2549255659, rs2550709678, rs2549416400	RCV001647207 RCV002291115 RCV003236687 RCV003887832	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (47)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYNE2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	GWASDB_DG	22544366		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	22544366, 28416818, 29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	22544366, 29892015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25391453, 26073630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	25953654, 29545482, 29624624, 39355904	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34573277	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	GWASDB_DG	22843504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	34573277	Associate	★★★★★ ★☆☆☆☆ 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	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36930595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26175118	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27502069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29912636, 30220251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30191766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	26705104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24080406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	GENOMICS_ENGLAND_DG	19542096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	GWASCAT_DG	30429480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	34573277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	UNIPROT_DG	17761684		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG	19542096		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	29545482	Associate	★★★★★ ★☆☆☆☆ 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	Intellectual developmental disorder	Pubtator	34573277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29025598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27502069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	26608979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23619141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29700475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	30429480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24080406		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30429480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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 only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	22555292, 23671687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	17761684, 23456229, 26645154, 29912636		★★★★★ ★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	24080406, 28390868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36014414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	22544366, 29892015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25854761		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37247272	Associate	★★★★★ ★☆☆☆☆ 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

SYNE2 (spectrin repeat containing nuclear envelope protein 2)