PDLIM3 (PDZ and LIM domain 3)

Gene

• Entrez ID: 27295
• Gene name: PDZ and LIM domain 3
• Gene symbol: PDLIM3
• Synonyms (NCBI Gene): ALP
• Chromosome: 4
• Chromosome location: 4q35.1
• Summary: The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to coloca

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199979457	T>A,C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs754882710	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024819	hsa-miR-215-5p	Microarray	19074876
MIRT026792	hsa-miR-192-5p	Microarray	19074876
MIRT677469	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677468	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT677467	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677466	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT677465	hsa-miR-4635	HITS-CLIP	23824327
MIRT677464	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT677463	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT677462	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677461	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT677460	hsa-miR-6131	HITS-CLIP	23824327
MIRT677459	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT677458	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT677457	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT677456	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT677455	hsa-miR-640	HITS-CLIP	23824327
MIRT677454	hsa-miR-548s	HITS-CLIP	23824327
MIRT677453	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT677452	hsa-miR-588	HITS-CLIP	23824327
MIRT677451	hsa-miR-4435	HITS-CLIP	23824327
MIRT677450	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT648858	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT648859	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT648857	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT648856	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT648855	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT648854	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT648853	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT648852	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT648851	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT648850	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT637779	hsa-miR-2278	HITS-CLIP	23824327
MIRT637778	hsa-miR-4519	HITS-CLIP	23824327
MIRT637777	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT637775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637774	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT637773	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT637772	hsa-miR-3615	HITS-CLIP	23824327
MIRT637771	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637770	hsa-miR-4284	HITS-CLIP	23824327
MIRT637769	hsa-miR-3650	HITS-CLIP	23824327
MIRT677469	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677468	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT677467	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT677466	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT677465	hsa-miR-4635	HITS-CLIP	23824327
MIRT677464	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT677463	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT677462	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT677461	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT677460	hsa-miR-6131	HITS-CLIP	23824327
MIRT677459	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT677458	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT677457	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT677456	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT677455	hsa-miR-640	HITS-CLIP	23824327
MIRT677454	hsa-miR-548s	HITS-CLIP	23824327
MIRT677453	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT677452	hsa-miR-588	HITS-CLIP	23824327
MIRT677451	hsa-miR-4435	HITS-CLIP	23824327
MIRT677450	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT648858	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT648859	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT648857	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT648856	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT648855	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT648854	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT648853	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT648852	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT648851	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT648850	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT637779	hsa-miR-2278	HITS-CLIP	23824327
MIRT637778	hsa-miR-4519	HITS-CLIP	23824327
MIRT637777	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637776	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT637775	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637774	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT637773	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT637772	hsa-miR-3615	HITS-CLIP	23824327
MIRT637771	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637770	hsa-miR-4284	HITS-CLIP	23824327
MIRT637769	hsa-miR-3650	HITS-CLIP	23824327
MIRT1222155	hsa-miR-1237	CLIP-seq
MIRT1222156	hsa-miR-1248	CLIP-seq
MIRT1222157	hsa-miR-1257	CLIP-seq
MIRT1222158	hsa-miR-1271	CLIP-seq
MIRT1222159	hsa-miR-1305	CLIP-seq
MIRT1222160	hsa-miR-1323	CLIP-seq
MIRT1222161	hsa-miR-137	CLIP-seq
MIRT1222162	hsa-miR-143	CLIP-seq
MIRT1222163	hsa-miR-186	CLIP-seq
MIRT1222164	hsa-miR-1913	CLIP-seq
MIRT1222165	hsa-miR-300	CLIP-seq
MIRT1222166	hsa-miR-3133	CLIP-seq
MIRT1222167	hsa-miR-3160-3p	CLIP-seq
MIRT1222168	hsa-miR-3167	CLIP-seq
MIRT1222169	hsa-miR-3177-5p	CLIP-seq
MIRT1222170	hsa-miR-324-3p	CLIP-seq
MIRT1222171	hsa-miR-3529	CLIP-seq
MIRT1222172	hsa-miR-3591-5p	CLIP-seq
MIRT1222173	hsa-miR-3607-5p	CLIP-seq
MIRT1222174	hsa-miR-3613-3p	CLIP-seq
MIRT1222175	hsa-miR-3681	CLIP-seq
MIRT1222176	hsa-miR-3689d	CLIP-seq
MIRT1222177	hsa-miR-379	CLIP-seq
MIRT1222178	hsa-miR-381	CLIP-seq
MIRT1222179	hsa-miR-409-3p	CLIP-seq
MIRT1222180	hsa-miR-421	CLIP-seq
MIRT1222181	hsa-miR-4280	CLIP-seq
MIRT1222182	hsa-miR-4330	CLIP-seq
MIRT1222183	hsa-miR-4433	CLIP-seq
MIRT1222184	hsa-miR-4443	CLIP-seq
MIRT1222185	hsa-miR-4451	CLIP-seq
MIRT1222186	hsa-miR-4452	CLIP-seq
MIRT1222187	hsa-miR-4487	CLIP-seq
MIRT1222188	hsa-miR-4501	CLIP-seq
MIRT1222189	hsa-miR-4504	CLIP-seq
MIRT1222190	hsa-miR-4514	CLIP-seq
MIRT1222191	hsa-miR-4536	CLIP-seq
MIRT1222192	hsa-miR-4640-5p	CLIP-seq
MIRT1222193	hsa-miR-4645-5p	CLIP-seq
MIRT1222194	hsa-miR-4650-3p	CLIP-seq
MIRT1222195	hsa-miR-4663	CLIP-seq
MIRT1222196	hsa-miR-4666-5p	CLIP-seq
MIRT1222197	hsa-miR-4673	CLIP-seq
MIRT1222198	hsa-miR-4692	CLIP-seq
MIRT1222199	hsa-miR-4693-3p	CLIP-seq
MIRT1222200	hsa-miR-4709-5p	CLIP-seq
MIRT1222201	hsa-miR-4726-5p	CLIP-seq
MIRT1222202	hsa-miR-4727-5p	CLIP-seq
MIRT1222203	hsa-miR-4731-3p	CLIP-seq
MIRT1222204	hsa-miR-4744	CLIP-seq
MIRT1222205	hsa-miR-4770	CLIP-seq
MIRT1222206	hsa-miR-4801	CLIP-seq
MIRT1222207	hsa-miR-500a	CLIP-seq
MIRT1222208	hsa-miR-542-3p	CLIP-seq
MIRT1222209	hsa-miR-548o	CLIP-seq
MIRT1222210	hsa-miR-558	CLIP-seq
MIRT1222211	hsa-miR-591	CLIP-seq
MIRT1222212	hsa-miR-642b	CLIP-seq
MIRT1222213	hsa-miR-759	CLIP-seq
MIRT1222214	hsa-miR-876-5p	CLIP-seq
MIRT1222215	hsa-miR-944	CLIP-seq
MIRT1222216	hsa-miR-96	CLIP-seq
MIRT1222155	hsa-miR-1237	CLIP-seq
MIRT1222156	hsa-miR-1248	CLIP-seq
MIRT1222164	hsa-miR-1913	CLIP-seq
MIRT2292706	hsa-miR-302a	CLIP-seq
MIRT2292707	hsa-miR-302b	CLIP-seq
MIRT2292708	hsa-miR-302c	CLIP-seq
MIRT2292709	hsa-miR-302d	CLIP-seq
MIRT2292710	hsa-miR-302e	CLIP-seq
MIRT2292711	hsa-miR-3130-3p	CLIP-seq
MIRT1222170	hsa-miR-324-3p	CLIP-seq
MIRT2292712	hsa-miR-372	CLIP-seq
MIRT2292713	hsa-miR-373	CLIP-seq
MIRT2292714	hsa-miR-4297	CLIP-seq
MIRT2292715	hsa-miR-4530	CLIP-seq
MIRT1222202	hsa-miR-4727-5p	CLIP-seq
MIRT2292716	hsa-miR-4768-3p	CLIP-seq
MIRT2292717	hsa-miR-4786-5p	CLIP-seq
MIRT2292718	hsa-miR-4793-3p	CLIP-seq
MIRT1222207	hsa-miR-500a	CLIP-seq
MIRT2292719	hsa-miR-519a	CLIP-seq
MIRT2292720	hsa-miR-519b-3p	CLIP-seq
MIRT2292721	hsa-miR-519c-3p	CLIP-seq
MIRT2292722	hsa-miR-520a-3p	CLIP-seq
MIRT2292723	hsa-miR-520b	CLIP-seq
MIRT2292724	hsa-miR-520c-3p	CLIP-seq
MIRT2292725	hsa-miR-520d-3p	CLIP-seq
MIRT2292726	hsa-miR-520e	CLIP-seq
MIRT2292727	hsa-miR-634	CLIP-seq
MIRT2292728	hsa-miR-665	CLIP-seq
MIRT1222213	hsa-miR-759	CLIP-seq
MIRT2292729	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IBA
GO:0003779	Function	Actin binding	IBA
GO:0005515	Function	Protein binding	IPI	23414517, 25416956, 25910212, 31515488
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005912	Component	Adherens junction	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0031941	Component	Filamentous actin	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0061061	Process	Muscle structure development	IBA

Other IDs

• MIM: 605889
• HGNC: 20767
• e!Ensembl: ENSG00000154553

Protein

• UniProt ID: Q53GG5
• Protein name: PDZ and LIM domain protein 3 (Actinin-associated LIM protein) (Alpha-actinin-2-associated LIM protein)
• Protein function: May play a role in the organization of actin filament arrays within muscle cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	3 → 81	PDZ domain	Domain
  PF15936	DUF4749	184 → 272	Domain of unknown function (DUF4749)	Family
  PF00412	LIM	294 → 349	LIM domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific. {ECO:0000269|PubMed:9334352}.
• Sequence:

  MPQTVILPGPAPWGFRLSGGIDFNQPLVITRITPGSKAAAANLCPGDVILAIDGFGTESM
  THADAQDRIKAAAHQLCLKIDRGETHLWSPQVSEDGKAHPFKINLESEPQDGNYFEHKHN
  IRPKPFVIPGRSSGCSTPSGIDCGSGRSTPSSVSTVSTICPGDLKVAAKLAPNIPLEMEL
  PGVKIVHAQFNTPMQLYSDDNIMETLQGQVSTALGETPLMSEPTASVPPESDVYRMLHDN
  RNEPTQPRQSGSFRVLQGMVDDGSDDRPAGTRSVRAPVTKVHGGSGGAQRMPLCDKCGSG
  IVGAVVKARDKYRHPECFVCADCNLNLKQKGYFFIEGELYCETHARARTKPPEGYDTVTL
  YPKA

• Sequence length: 364

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiomyopathy	Likely benign	rs143121072	RCV000852987
Cardiovascular phenotype	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs143812960, rs11944325, rs62347360, rs1034968896, rs201185673	RCV000619134 RCV000621333 RCV000620242 RCV000620687 RCV000619173
Familial cardiomyopathy	Conflicting classifications of pathogenicity	rs142143310	RCV000509295
Hypertrophic cardiomyopathy	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs148518020, rs1561187562, rs773342819, rs770996211, rs146092339, rs373419233, rs748290083, rs769389710, rs144286715, rs1259450618, rs764788096, rs2153340587, rs766386102, rs376278294, rs369891118, rs2095701642, rs2153333102, rs764271627, rs369445862, rs2153337849, rs1250327271, rs199895839, rs1280400272, rs1189554604, rs549674569, rs200230349, rs2153337850, rs2095697972, rs1254946691, rs2153332393, rs775841507, rs772601097, rs769091239, rs1561200671, rs143725812, rs764823333, rs768821275, rs755994888, rs182803361, rs772981250, rs112661328, rs138670107, rs527271064, rs34943562, rs61734674, rs61734675, rs12644280, rs4635850, rs116775669, rs1580239536, rs373408599, rs200921332, rs752432016, rs2153330636, rs2153335451, rs369885925, rs756047162, rs774470984, rs375743721, rs778572675, rs1355493976, rs2095688353, rs751273771, rs762780442, rs762986959, rs777812739, rs2095688280, rs757507673, rs2153332313, rs772388695, rs2153337858, rs1176465439, rs1259024974, rs561379714, rs201237568, rs199828661, rs760087085, rs2153332982, rs951740054, rs753543916, rs770008147, rs377383830, rs558471910, rs1215013585, rs1433516310, rs775360491, rs730880177, rs755359056, rs2478342600, rs746224592, rs775988516, rs1384878275, rs751623400, rs758667413, rs483352737, rs762410947, rs146946948, rs1210309583, rs1232029998, rs1228328230, rs751837590, rs2095730589, rs1191199211, rs773926861, rs771774420, rs2095688579, rs148570356, rs2095688804, rs1370714820, rs2478341006, rs1173227868, rs181339407, rs371228193, rs2478417037, rs778768787, rs745737342, rs772607770, rs569673500, rs1489060519, rs779267023, rs200273032, rs143812960, rs142143310, rs148256486, rs113792127, rs146768859, rs781358846, rs2478321366, rs781486882, rs2478308867, rs920811532, rs2478478817, rs572128606, rs200841741, rs2478321190, rs1164843057, rs2478479227, rs539118406, rs2478427933, rs574011141, rs781448134, rs1418573250, rs2478428511, rs141129783, rs2478417388, rs2478479880, rs773433295, rs2095688809, rs2478331221, rs1178485427, rs2478427409, rs139493914, rs776361335, rs199979457, rs142951316, rs150070443, rs878854983, rs878854982, rs765292127, rs2478308963, rs1463970960, rs1346987136, rs374935162, rs750021846, rs1340878938, rs1225480796, rs1271496113, rs771341523, rs1259309539, rs2095693247, rs757881954, rs1225555613, rs577853473, rs961788900, rs1447674398, rs779435259, rs763164171, rs1000933182, rs1448422407, rs759639015, rs2095693278, rs1195252662, rs771699213, rs1032380240, rs2095711296, rs748724098, rs1226939307, rs2478342569, rs774383499, rs372538185, rs2478320785, rs2478321830, rs2478376624, rs2095688770, rs1224883567, rs2095751828, rs2478341355, rs767518283, rs774719040, rs2478341578, rs2478428181, rs143121072, rs2478343616, rs142771915, rs528843301, rs372273108, rs151318437, rs761820729, rs200354645, rs974220815, rs764585438, rs138115202, rs1060500600, rs199476399, rs11944325, rs62347360, rs199476400, rs1064796959, rs1179953014, rs747338250, rs1326853948, rs566270712, rs372840074, rs765318874, rs1554037057, rs778943215, rs768654855, rs373377356, rs557718466, rs763439352, rs151119100, rs200663921, rs1034968896, rs201185673, rs1554037747, rs781147581, rs779988849, rs755255012, rs1561192175, rs750061720, rs764497554, rs368815493, rs768354891, rs781084216, rs1306620317, rs769851440, rs754889669, rs1227606973, rs756066114, rs200734614, rs553881498, rs187859259, rs201775052, rs750215417, rs1580239101, rs1580233408, rs2095701355, rs2095711219, rs777908111, rs2095730997, rs758987751, rs150125560, rs2095752062, rs745661778, rs780392840, rs373657946, rs1188446991, rs542630585, rs765915778, rs1305441463, rs2095751946, rs747243505, rs777447396, rs1301395755, rs1295481759, rs2095726024, rs2095730947	RCV001326058 RCV001326029 RCV001316293 RCV001325423 RCV001339712 RCV001340359 RCV001347263 RCV001349047 RCV001370954 RCV001365977 RCV001360308 RCV001374365 RCV001408143 RCV001418425 RCV001438459 RCV001441913 RCV001443429 RCV001476806 RCV001451552 RCV001472700 RCV001489840 RCV001488336 RCV001481765 RCV001495455 RCV001515416 RCV002073360 RCV001989556 RCV001990528 RCV002015023 RCV001970680 RCV001865046 RCV001905302 RCV001975738 RCV001947527 RCV001947150 RCV001944597 RCV001930095 RCV001901035 RCV001867669 RCV001937978 RCV000203796 RCV000464207 RCV002055744 RCV000463435 RCV000230401 RCV000226957 RCV002055745 RCV001509666 RCV000467604 RCV001922479 RCV001915079 RCV001985728 RCV001983727 RCV001983796 RCV002003007 RCV001872927 RCV001899584 RCV002005723 RCV002003355 RCV002045982 RCV001880952 RCV001875561 RCV001935203 RCV001927918 RCV001921947 RCV001910196 RCV001988550 RCV002041017 RCV001981073 RCV002101878 RCV002103384 RCV002106602 RCV002071641 RCV002129364 RCV002181426 RCV002151517 RCV002083117 RCV002209668 RCV002195561 RCV002173507 RCV002100681 RCV002211501 RCV002193540 RCV002111510 RCV002090780 RCV002088776 RCV002301651 RCV002304290 RCV003764992 RCV003775691 RCV003776018 RCV003775956 RCV003103375 RCV003099904 RCV005227702 RCV005215868 RCV005227707 RCV005227666 RCV003776402 RCV005227705 RCV003774190 RCV005215869 RCV003095247 RCV003775145 RCV005227756 RCV003066703 RCV003066960 RCV003085319 RCV003069010 RCV003085860 RCV003091283 RCV002610388 RCV002584935 RCV002599656 RCV002611211 RCV002628041 RCV002611046 RCV002633475 RCV002654534 RCV002651344 RCV002629791 RCV002651870 RCV001485614 RCV002583229 RCV001062027 RCV000629183 RCV000629178 RCV001082207 RCV000229952 RCV000227177 RCV000456516 RCV001364044 RCV002671641 RCV002667540 RCV002642742 RCV002700141 RCV002710941 RCV002711138 RCV002791989 RCV002880775 RCV002880896 RCV002863822 RCV002895711 RCV002886530 RCV002938644 RCV002957335 RCV002966074 RCV002993578 RCV002995442 RCV002994857 RCV003031563 RCV003032342 RCV003038182 RCV003035728 RCV003047982 RCV003048070 RCV001080746 RCV002057135 RCV000629185 RCV000457582 RCV000462391 RCV000234315 RCV000227639 RCV000233406 RCV000229482 RCV003778972 RCV005209600 RCV003777122 RCV003777164 RCV003778112 RCV003785901 RCV003785904 RCV003786316 RCV003781911 RCV003781966 RCV003784650 RCV003783182 RCV003783363 RCV003789984 RCV003793279 RCV003788625 RCV003780833 RCV003780841 RCV003788926 RCV003788953 RCV003789007 RCV003789362 RCV003787807 RCV003786229 RCV003788234 RCV003786558 RCV003786699 RCV003792612 RCV003793880 RCV003806228 RCV003791379 RCV003798983 RCV003803230 RCV003800916 RCV003797296 RCV003795157 RCV003800171 RCV003800490 RCV003800808 RCV003808780 RCV003807120 RCV003807473 RCV003812761 RCV003812843 RCV003812900 RCV002521807 RCV000560811 RCV002061461 RCV001861607 RCV000476923 RCV000866034 RCV000468238 RCV000463646 RCV001415265 RCV000467359 RCV001408576 RCV000459101 RCV001313161 RCV001082000 RCV000232736 RCV000629177 RCV002526986 RCV002527631 RCV001223260 RCV001857949 RCV000534728 RCV000545931 RCV000548484 RCV000557125 RCV000535572 RCV000526883 RCV001860283 RCV003767757 RCV005223045 RCV001479446 RCV002066701 RCV003767817 RCV000629182 RCV000629180 RCV000629181 RCV000629184 RCV000629179 RCV000702610 RCV000699853 RCV000697320 RCV000695472 RCV001869178 RCV000796336 RCV000793921 RCV000816311 RCV000820830 RCV000801158 RCV000797377 RCV000795072 RCV000822478 RCV000863861 RCV000869474 RCV000877295 RCV001510758 RCV000871553 RCV001400160 RCV000892229 RCV000921451 RCV001406021 RCV001447503 RCV001476519 RCV001065414 RCV001048479 RCV001046967 RCV001043875 RCV001040307 RCV001060524 RCV001065995 RCV001037511 RCV001070340 RCV001036368 RCV001216557 RCV001201563 RCV001208426 RCV001234012 RCV001231601 RCV001230247 RCV001234833 RCV001227246 RCV001226455 RCV001246970 RCV001243364 RCV001242659 RCV001247378 RCV001302130 RCV001296493 RCV001308782
Malignant tumor of urinary bladder	Benign; Likely benign	rs138670107	RCV005886779
Melanoma	Conflicting classifications of pathogenicity	rs200354645	RCV005896451
PDLIM3-related disorder	Likely benign; Uncertain significance; Benign	rs369445862, rs730880177, rs148256486, rs139493914, rs1235779274, rs2095712417, rs528843301, rs761820729	RCV003920965 RCV004730889 RCV003947548 RCV003955249 RCV003404175 RCV003969087 RCV003912627 RCV004754428
Primary dilated cardiomyopathy	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs148518020, rs1561187562, rs773342819, rs770996211, rs146092339, rs373419233, rs748290083, rs769389710, rs144286715, rs1259450618, rs764788096, rs2153340587, rs766386102, rs376278294, rs369891118, rs2095701642, rs2153333102, rs764271627, rs369445862, rs2153337849, rs1250327271, rs199895839, rs1280400272, rs1189554604, rs549674569, rs200230349, rs2153337850, rs2095697972, rs1254946691, rs2153332393, rs775841507, rs772601097, rs769091239, rs1561200671, rs143725812, rs764823333, rs768821275, rs755994888, rs182803361, rs772981250, rs112661328, rs138670107, rs527271064, rs34943562, rs61734674, rs61734675, rs12644280, rs4635850, rs116775669, rs1580239536, rs373408599, rs200921332, rs752432016, rs2153330636, rs2153335451, rs369885925, rs756047162, rs774470984, rs375743721, rs778572675, rs1355493976, rs2095688353, rs751273771, rs762780442, rs762986959, rs777812739, rs2095688280, rs757507673, rs2153332313, rs772388695, rs2153337858, rs1176465439, rs1259024974, rs561379714, rs201237568, rs199828661, rs760087085, rs2153332982, rs951740054, rs753543916, rs770008147, rs377383830, rs558471910, rs1215013585, rs1433516310, rs775360491, rs730880177, rs755359056, rs2478342600, rs746224592, rs775988516, rs1384878275, rs751623400, rs758667413, rs483352737, rs762410947, rs146946948, rs1210309583, rs1232029998, rs1228328230, rs751837590, rs2095730589, rs1191199211, rs773926861, rs771774420, rs2095688579, rs148570356, rs2095688804, rs1370714820, rs2478341006, rs1173227868, rs181339407, rs371228193, rs2478417037, rs778768787, rs745737342, rs772607770, rs569673500, rs1489060519, rs779267023, rs200273032, rs143812960, rs142143310, rs148256486, rs113792127, rs146768859, rs781358846, rs2478321366, rs781486882, rs2478308867, rs920811532, rs2478478817, rs572128606, rs200841741, rs2478321190, rs1164843057, rs2478479227, rs539118406, rs2478427933, rs574011141, rs781448134, rs1418573250, rs2478428511, rs141129783, rs2478417388, rs2478479880, rs773433295, rs2095688809, rs2478331221, rs1178485427, rs2478427409, rs377158204, rs139493914, rs776361335, rs199979457, rs142951316, rs150070443, rs878854983, rs878854982, rs765292127, rs2478308963, rs1463970960, rs1346987136, rs374935162, rs750021846, rs1340878938, rs1225480796, rs1271496113, rs771341523, rs1259309539, rs2095693247, rs757881954, rs1225555613, rs577853473, rs961788900, rs1447674398, rs779435259, rs763164171, rs1000933182, rs1448422407, rs759639015, rs2095693278, rs1195252662, rs771699213, rs1032380240, rs2095711296, rs748724098, rs1226939307, rs2478342569, rs774383499, rs372538185, rs2478320785, rs2478321830, rs2478376624, rs2095688770, rs1224883567, rs2095751828, rs2478341355, rs767518283, rs774719040, rs2478341578, rs2478428181, rs143121072, rs2478343616, rs142771915, rs528843301, rs372273108, rs151318437, rs761820729, rs200354645, rs974220815, rs764585438, rs138115202, rs1060500600, rs199476399, rs11944325, rs62347360, rs199476400, rs1064796959, rs1179953014, rs747338250, rs1326853948, rs566270712, rs372840074, rs765318874, rs1554037057, rs778943215, rs768654855, rs373377356, rs557718466, rs763439352, rs151119100, rs200663921, rs1034968896, rs201185673, rs1554037747, rs781147581, rs779988849, rs755255012, rs1561192175, rs750061720, rs764497554, rs368815493, rs768354891, rs781084216, rs1306620317, rs769851440, rs754889669, rs1227606973, rs756066114, rs200734614, rs553881498, rs187859259, rs201775052, rs750215417, rs1580239101, rs1580233408, rs2095701355, rs2095711219, rs777908111, rs2095730997, rs758987751, rs150125560, rs2095752062, rs745661778, rs780392840, rs373657946, rs1188446991, rs542630585, rs765915778, rs1305441463, rs2095751946, rs747243505, rs777447396, rs1301395755, rs1295481759, rs2095726024, rs2095730947	RCV001326058 RCV001326029 RCV001316293 RCV001325423 RCV001339712 RCV001340359 RCV001347263 RCV001349047 RCV001370954 RCV001365977 RCV001360308 RCV001374365 RCV001408143 RCV001418425 RCV001438459 RCV001441913 RCV001443429 RCV001476806 RCV001451552 RCV001472700 RCV001489840 RCV001488336 RCV001481765 RCV001495455 RCV001515416 RCV002073360 RCV001989556 RCV001990528 RCV002015023 RCV001970680 RCV001865046 RCV001905302 RCV001975738 RCV001947527 RCV001947150 RCV001944597 RCV001930095 RCV001901035 RCV001867669 RCV001937978 RCV000203796 RCV000464207 RCV002055744 RCV000463435 RCV000230401 RCV000226957 RCV002055745 RCV001509666 RCV000467604 RCV001922479 RCV001915079 RCV001985728 RCV001983727 RCV001983796 RCV002003007 RCV001872927 RCV001899584 RCV002005723 RCV002003355 RCV002045982 RCV001880952 RCV001875561 RCV001935203 RCV001927918 RCV001921947 RCV001910196 RCV001988550 RCV002041017 RCV001981073 RCV002101878 RCV002103384 RCV002106602 RCV002071641 RCV002129364 RCV002181426 RCV002151517 RCV002083117 RCV002209668 RCV002195561 RCV002173507 RCV002100681 RCV002211501 RCV002193540 RCV002111510 RCV002090780 RCV002088776 RCV002301651 RCV002304290 RCV000157406 RCV003775691 RCV003776018 RCV003775956 RCV003103375 RCV003099904 RCV005227702 RCV005215868 RCV005227707 RCV005227666 RCV003776402 RCV005227705 RCV003774190 RCV005215869 RCV003095247 RCV003775145 RCV005227756 RCV003066703 RCV003066960 RCV003085319 RCV003069010 RCV003085860 RCV003091283 RCV002610388 RCV002584935 RCV002599656 RCV002611211 RCV002628041 RCV002611046 RCV002633475 RCV002654534 RCV002651344 RCV002629791 RCV002651870 RCV001485614 RCV002583229 RCV001062027 RCV000629183 RCV000629178 RCV001082207 RCV000229952 RCV000227177 RCV000456516 RCV001364044 RCV002671641 RCV002667540 RCV002642742 RCV002700141 RCV002710941 RCV002711138 RCV002791989 RCV002880775 RCV002880896 RCV002863822 RCV002895711 RCV002886530 RCV002938644 RCV002957335 RCV002966074 RCV002993578 RCV002995442 RCV002994857 RCV003031563 RCV003032342 RCV003038182 RCV003035728 RCV003047982 RCV003048070 RCV000208383 RCV001080746 RCV002057135 RCV000629185 RCV000457582 RCV000462391 RCV000234315 RCV000227639 RCV000233406 RCV000229482 RCV003778972 RCV005209600 RCV003777122 RCV003777164 RCV003778112 RCV003785901 RCV003785904 RCV003786316 RCV003781911 RCV003781966 RCV003784650 RCV003783182 RCV003783363 RCV003789984 RCV003793279 RCV003788625 RCV003780833 RCV003780841 RCV003788926 RCV003788953 RCV003789007 RCV003789362 RCV003787807 RCV003786229 RCV003788234 RCV003786558 RCV003786699 RCV003792612 RCV003793880 RCV003806228 RCV003791379 RCV003798983 RCV003803230 RCV003800916 RCV003797296 RCV003795157 RCV003800171 RCV003800490 RCV003800808 RCV003808780 RCV003807120 RCV003807473 RCV003812761 RCV003812843 RCV003812900 RCV002521807 RCV000560811 RCV002061461 RCV001861607 RCV000476923 RCV000866034 RCV000468238 RCV000463646 RCV001415265 RCV000467359 RCV001408576 RCV000459101 RCV001313161 RCV001082000 RCV000232736 RCV000629177 RCV002526986 RCV002527631 RCV001223260 RCV001857949 RCV000534728 RCV000545931 RCV000548484 RCV000557125 RCV000535572 RCV000526883 RCV001860283 RCV003767757 RCV005223045 RCV001479446 RCV002066701 RCV003767817 RCV000629182 RCV000629180 RCV000629181 RCV000629184 RCV000629179 RCV000702610 RCV000699853 RCV000697320 RCV000695472 RCV001869178 RCV000796336 RCV000793921 RCV000816311 RCV000820830 RCV000801158 RCV000797377 RCV000795072 RCV000822478 RCV000863861 RCV000869474 RCV000877295 RCV001510758 RCV000871553 RCV001400160 RCV000892229 RCV000921451 RCV001406021 RCV001447503 RCV001476519 RCV001065414 RCV001048479 RCV001046967 RCV001043875 RCV001040307 RCV001060524 RCV001065995 RCV001037511 RCV001070340 RCV001036368 RCV001216557 RCV001201563 RCV001208426 RCV001234012 RCV001231601 RCV001230247 RCV001234833 RCV001227246 RCV001226455 RCV001246970 RCV001243364 RCV001242659 RCV001247378 RCV001302130 RCV001296493 RCV001308782
Primary familial hypertrophic cardiomyopathy	Likely benign	rs730880178	RCV000157407
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	rs751951109	RCV000852988

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinogenesis	Associate	36813922
Carcinoma Hepatocellular	Associate	36177006
Cardiomyopathy Dilated	Associate	31424159, 35647201
Colorectal Neoplasms	Associate	35991839
Endometriosis	Stimulate	35378934
Endometriosis	Associate	36339397
Medulloblastoma	Associate	36813922
Muscular Dystrophies	Associate	35647201
Muscular Dystrophy Facioscapulohumeral	Associate	19888305
Neoplasms	Associate	35647201, 35991839, 36813922
Neoplasms	Inhibit	40243891
Non Muscle Invasive Bladder Neoplasms	Associate	31011911
Rhabdomyosarcoma	Associate	34285060
Squamous Cell Carcinoma of Head and Neck	Associate	40243891
Stomach Neoplasms	Associate	35647201
Thyroid Neoplasms	Associate	37355885