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	21873635
GO:0003779	Function	Actin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	23414517, 25416956, 31515488
GO:0005829	Component	Cytosol	IDA
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0007507	Process	Heart development	IBA	21873635
GO:0030018	Component	Z disc	IBA	21873635
GO:0030036	Process	Actin cytoskeleton organization	IBA	21873635
GO:0031941	Component	Filamentous actin	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA	21873635
GO:0061061	Process	Muscle structure development	IBA	21873635

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

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157	20801532, 9334352

Unknown
Disease term	Disease name	Evidence	References	Source
Myopathy	dilated cardiomyopathy			GenCC

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