SMN1 (survival of motor neuron 1, telomeric)

Gene

• Entrez ID: 6606
• Gene name: Survival of motor neuron 1, telomeric
• Gene symbol: SMN1
• Synonyms (NCBI Gene): BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
• Disease Acronyms (UniProt): SMA1, SMA2, SMA3, SMA4
• Chromosome: 5
• Chromosome location: 5q13.2
• Summary: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021810	hsa-miR-132-3p	Microarray	17612493
MIRT028496	hsa-miR-30a-5p	Proteomics	18668040
MIRT029454	hsa-miR-26b-5p	Microarray	19088304
MIRT052963	hsa-miR-146a-5p	AGS	22020746
MIRT053151	hsa-miR-21-5p	Luciferase reporter assay, Western blot	23657402
MIRT053151	hsa-miR-21-5p	Luciferase reporter assay, Western blot	23657402
MIRT643049	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT643047	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT643048	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT643046	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT643049	hsa-miR-660-5p	HITS-CLIP	23824327
MIRT643047	hsa-miR-5591-3p	HITS-CLIP	23824327
MIRT643048	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT643046	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373597	hsa-miR-2053	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373606	hsa-miR-494	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373619	hsa-miR-3120-5p	CLIP-seq
MIRT1373620	hsa-miR-3124-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373622	hsa-miR-3180-5p	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT1373606	hsa-miR-494	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT1373631	hsa-miR-520a-5p	CLIP-seq
MIRT1373632	hsa-miR-525-5p	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2111247	hsa-miR-101	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373597	hsa-miR-2053	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2111251	hsa-miR-4662a-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2334386	hsa-miR-140-5p	CLIP-seq
MIRT1373595	hsa-miR-141	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373596	hsa-miR-200a	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373619	hsa-miR-3120-5p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT2334387	hsa-miR-3545-5p	CLIP-seq
MIRT2334388	hsa-miR-3591-5p	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373604	hsa-miR-3658	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2334389	hsa-miR-4460	CLIP-seq
MIRT2334390	hsa-miR-4473	CLIP-seq
MIRT2334391	hsa-miR-4671-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2334392	hsa-miR-4727-3p	CLIP-seq
MIRT2334393	hsa-miR-4729	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT2334394	hsa-miR-512-3p	CLIP-seq
MIRT2334395	hsa-miR-520f	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT2334396	hsa-miR-616	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2111248	hsa-miR-194	CLIP-seq
MIRT1373618	hsa-miR-3064-3p	CLIP-seq
MIRT1373621	hsa-miR-3143	CLIP-seq
MIRT2334388	hsa-miR-3591-5p	CLIP-seq
MIRT2111249	hsa-miR-3607-3p	CLIP-seq
MIRT2111250	hsa-miR-3686	CLIP-seq
MIRT2334390	hsa-miR-4473	CLIP-seq
MIRT2334391	hsa-miR-4671-3p	CLIP-seq
MIRT1373627	hsa-miR-4715-3p	CLIP-seq
MIRT2334393	hsa-miR-4729	CLIP-seq
MIRT2111252	hsa-miR-4760-5p	CLIP-seq
MIRT1373628	hsa-miR-4776-3p	CLIP-seq
MIRT2111253	hsa-miR-4778-5p	CLIP-seq
MIRT2334394	hsa-miR-512-3p	CLIP-seq
MIRT2334395	hsa-miR-520f	CLIP-seq
MIRT1373633	hsa-miR-543	CLIP-seq
MIRT2334396	hsa-miR-616	CLIP-seq
MIRT2628421	hsa-miR-1224-3p	CLIP-seq
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT2628422	hsa-miR-1260	CLIP-seq
MIRT2628423	hsa-miR-1260b	CLIP-seq
MIRT2628424	hsa-miR-1280	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2628425	hsa-miR-1305	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT2628426	hsa-miR-3121-3p	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT2628427	hsa-miR-3176	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT2628428	hsa-miR-33a	CLIP-seq
MIRT2628429	hsa-miR-33b	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT2628430	hsa-miR-3922-3p	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT2628431	hsa-miR-4712-5p	CLIP-seq
MIRT2628432	hsa-miR-4720-3p	CLIP-seq
MIRT2628433	hsa-miR-4757-5p	CLIP-seq
MIRT2628434	hsa-miR-4804-3p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT2628435	hsa-miR-532-3p	CLIP-seq
MIRT2628436	hsa-miR-556-3p	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2628437	hsa-miR-659	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2628438	hsa-miR-770-5p	CLIP-seq
MIRT2628439	hsa-miR-944	CLIP-seq
MIRT2628421	hsa-miR-1224-3p	CLIP-seq
MIRT1373594	hsa-miR-1229	CLIP-seq
MIRT2628422	hsa-miR-1260	CLIP-seq
MIRT2628423	hsa-miR-1260b	CLIP-seq
MIRT2628424	hsa-miR-1280	CLIP-seq
MIRT1373609	hsa-miR-1298	CLIP-seq
MIRT2628425	hsa-miR-1305	CLIP-seq
MIRT1373610	hsa-miR-181a	CLIP-seq
MIRT1373611	hsa-miR-181b	CLIP-seq
MIRT1373612	hsa-miR-181c	CLIP-seq
MIRT1373613	hsa-miR-181d	CLIP-seq
MIRT1373614	hsa-miR-197	CLIP-seq
MIRT1373598	hsa-miR-208a	CLIP-seq
MIRT1373599	hsa-miR-208b	CLIP-seq
MIRT1373615	hsa-miR-23a	CLIP-seq
MIRT1373616	hsa-miR-23b	CLIP-seq
MIRT1373617	hsa-miR-23c	CLIP-seq
MIRT2628426	hsa-miR-3121-3p	CLIP-seq
MIRT1373600	hsa-miR-3163	CLIP-seq
MIRT2628427	hsa-miR-3176	CLIP-seq
MIRT1373623	hsa-miR-323b-3p	CLIP-seq
MIRT2628428	hsa-miR-33a	CLIP-seq
MIRT2628429	hsa-miR-33b	CLIP-seq
MIRT1373601	hsa-miR-340	CLIP-seq
MIRT1373602	hsa-miR-342-3p	CLIP-seq
MIRT1373603	hsa-miR-3617	CLIP-seq
MIRT1373624	hsa-miR-3671	CLIP-seq
MIRT2628430	hsa-miR-3922-3p	CLIP-seq
MIRT1373625	hsa-miR-4262	CLIP-seq
MIRT1373605	hsa-miR-4282	CLIP-seq
MIRT1373626	hsa-miR-4698	CLIP-seq
MIRT2628431	hsa-miR-4712-5p	CLIP-seq
MIRT2628432	hsa-miR-4720-3p	CLIP-seq
MIRT2628433	hsa-miR-4757-5p	CLIP-seq
MIRT2628434	hsa-miR-4804-3p	CLIP-seq
MIRT1373607	hsa-miR-499-5p	CLIP-seq
MIRT1373629	hsa-miR-513c	CLIP-seq
MIRT1373630	hsa-miR-514b-5p	CLIP-seq
MIRT2628435	hsa-miR-532-3p	CLIP-seq
MIRT2628436	hsa-miR-556-3p	CLIP-seq
MIRT1373634	hsa-miR-607	CLIP-seq
MIRT1373608	hsa-miR-641	CLIP-seq
MIRT2628437	hsa-miR-659	CLIP-seq
MIRT1373635	hsa-miR-660	CLIP-seq
MIRT2628438	hsa-miR-770-5p	CLIP-seq
MIRT2628439	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
JUN	Repression	15550677
SRF	Activation	15550677

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IMP	9845364
GO:0000245	Process	Spliceosomal complex assembly	NAS	9323129
GO:0000387	Process	Spliceosomal snRNP assembly	IBA	21873635
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	TAS
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11135666, 11283611, 11714716, 12065586, 12975319, 14715275, 16087681, 17023415, 18093976, 18984161, 19515850, 19928837, 20696395, 21070772, 21072240, 21496457, 21516116, 21816274, 21900206, 22365833, 23752268, 24981860, 25416956, 25737013, 26700805, 26828962, 26871637, 30177828, 322
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	11283611
GO:0005654	Component	Nucleoplasm	IDA	17068332
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	9845364, 11283611, 17068332
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	TAS
GO:0006353	Process	DNA-templated transcription, termination	IMP	26700805
GO:0007399	Process	Nervous system development	IEA
GO:0015030	Component	Cajal body	IBA	21873635
GO:0015030	Component	Cajal body	IDA	11283611, 17068332
GO:0016604	Component	Nuclear body	IDA
GO:0030018	Component	Z disc	IEA
GO:0030424	Component	Axon	IEA
GO:0032797	Component	SMN complex	IBA	21873635
GO:0032797	Component	SMN complex	IDA	11283611, 18093976, 18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	18093976
GO:0042802	Function	Identical protein binding	IPI	8670859, 14715275, 16189514, 19928837, 21516116, 22365833, 23022347, 25416956, 29997244, 32296183, 32814053
GO:0043005	Component	Neuron projection	IDA	18093976
GO:0043204	Component	Perikaryon	IDA	18093976
GO:0051170	Process	Import into nucleus	TAS
GO:0097504	Component	Gemini of coiled bodies	IBA	21873635
GO:0097504	Component	Gemini of coiled bodies	IDA	8670859, 9845364, 11283611, 17068332, 20513430

Other IDs

• MIM: 600354
• HGNC: 11117
• e!Ensembl: ENSG00000172062

Pathways

Reactome:

snRNP Assembly

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	8787675
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Distal hereditary motor neuronopathy	Hereditary Motor Neuronopathy	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924	19150990, 21819082, 15862279, 27111068, 21350916
Distal spinal muscular atrophy	Distal Spinal Muscular Atrophy	rs29001584, rs28941475, rs121434378, rs267607146, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs137852646, rs372000714, rs724159994, rs730882139, rs730882140, rs796065352, rs886037759, rs746581714, rs780594709, rs756614404, rs864309503, rs200089714, rs145226920, rs35193202, rs879253865, rs201060167, rs879253887, rs368775789, rs886043773, rs1057518588, rs1060502838, rs768823392, rs1131691657, rs1554338260, rs1555243325, rs991227431, rs557416644, rs1160978570, rs1000091588, rs770111639, rs1566443170, rs759641927, rs372181708, rs1564096221, rs1332319177, rs1479493690, rs972425138, rs779716706, rs776730737, rs1303837541, rs1337346956, rs750994603, rs199839840, rs1366461184, rs1454639285, rs1594427410, rs145670786	21819082, 15862279, 19150990, 21350916, 27111068
Spinal muscular atrophy	Juvenile Spinal Muscular Atrophy, Spinal Muscular Atrophy, Muscular Atrophy, Spinal, Type II, Spinal Muscular Atrophies of Childhood, SPINAL MUSCULAR ATROPHY, TYPE IV, Muscular atrophy, spinal, infantile chronic form, Spinal muscular atrophy 4	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962	7813012, 10732817, 9837824, 9158159, 8787675, 14715275, 17924536, 11826188, 21350916, 15862279, 20442745, 27111068, 10679938, 19150990, 11839954, 18155522, 19050931, 21819082, 26606804, 18572081, 10732802, 24498607, 21088113, 21542063
Proximal spinal muscular atrophy	Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4, Proximal spinal muscular atrophy type 2	rs121918358
Scapuloperoneal spinal muscular atrophy	Scapuloperoneal Form of Spinal Muscular Atrophy	rs267607143, rs267607145, rs267607146	21819082, 15862279, 27111068, 19150990, 21350916
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Spinal Muscular Atrophy	spinal muscular atrophy, type 1, spinal muscular atrophy, type II, spinal muscular atrophy, type III			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Neoplasms	Associate	33213169
Adrenal Insufficiency	Associate	24317636
Alzheimer Disease	Associate	36764297
Amyotrophic Lateral Sclerosis	Associate	22274580, 22323753, 30786668, 33389754, 39506867
Amyotrophic lateral sclerosis 1	Associate	22187232
Angiomyolipoma	Associate	36096809
Angiomyoma	Stimulate	40578971
Aortic Dissection	Inhibit	33910387
Arthrogryposis	Associate	8787675
Atrophy	Associate	14676483, 31560180, 37280513, 37542300
Blood Coagulation Disorders	Associate	39254732
Breast Neoplasms	Associate	19855377, 25011545
Carcinogenesis	Associate	36510964
Carcinoma	Associate	24133607
Carcinoma Hepatocellular	Associate	26110787, 37594310
Carcinoma Hepatocellular	Stimulate	31548493
Carcinoma Intraductal Noninfiltrating	Associate	16286998
Carcinoma Non Small Cell Lung	Associate	31760702
Carcinoma Pancreatic Ductal	Associate	29660218
Chemical and Drug Induced Liver Injury	Associate	27311619
COVID 19	Associate	33190150
Death	Associate	32011487
Desmoid disease hereditary	Associate	33213169
DiGeorge Syndrome	Associate	29925309
Disease	Associate	33798739
Fasciculation	Inhibit	37087898
Fibroma	Associate	34433104
Flail Chest	Associate	37083780
Gastrointestinal Stromal Tumors	Associate	21655642, 24083738, 25009400
Genetic Diseases Inborn	Associate	18675250, 28120840, 33429824
Glioma	Associate	34482648
Hypersensitivity Immediate	Associate	11266116, 11839954
Immunoglobulin Light chain Amyloidosis	Associate	28871194
Immunologic Deficiency Syndromes	Inhibit	28570645
Laryngeal Neoplasms	Associate	36675308
Leiomyoma	Associate	17278201
Leiomyosarcoma	Associate	17278201
Low Back Pain	Associate	25497877
Lung Injury	Associate	33190150
Lymphatic Metastasis	Associate	25011545
Malignant Teratocarcinosarcoma	Associate	36719455
Melanoma	Associate	33078756
Motor Neuron Disease	Associate	20157854, 39506867
Muscle Hypotonia	Associate	12657835
Muscle Weakness	Associate	14676483, 31560180, 37750622
Muscle Weakness	Inhibit	37280513
Muscular Atrophy	Associate	39343938
Muscular Atrophy Spinal	Associate	10205265, 10205267, 10339583, 10500148, 10601333, 10719817, 10816558, 11147573, 11266116, 11389857, 11574476, 11584013, 11687598, 11704667, 11791208, 11821106, 11826188, 11839954, 11912351, 12411585, 12486110, 12642665, 12657835, 14676483, 15272122, 15304326, 15378550, 15608400, 15719043, 15726222, 15910686, 16169410, 16226920, 16301532, 16385450, 16451734, 16580882, 16617248, 16738131, 16845275, 16936383, 17170000, 17307868, 17505471, 17585203, 17592254, 17932457, 17953949, 18071605, 18533950, 18675250, 18720039, 18839960, 18971205, 18974562, 19103745, 19198020, 19244360, 19271042, 19351384, 19430205, 19440247, 19445707, 19480685, 19603064, 19625283, 19628962, 19701774, 19716110, 19997596, 20157854, 20186123, 20194437, 20197730, 20442745, 21072240, 21209906, 21220421, 21227393, 21233719, 21364876, 21421198, 21435220, 21610747, 21610752, 21654213, 21673580, 21762474, 21819082, 21971302, 22187232, 22362925, 22382180, 22393244, 22490618, 22558076, 22558154, 22607171, 22669976, 22994313, 23073312, 23112048, 23185376, 23253609, 23255680, 23299920, 23496866, 23565191, 23727837, 23788250, 23861442, 24317636, 24515897, 24616638, 24632473, 25497877, 25506695, 25727246, 25791416, 25888055, 26092730, 26123042, 26190808, 26214005, 26419278, 26468953, 26510457, 26573968, 26683872, 26739529, 27102838, 27345972, 27345977, 27425821, 27534852, 27893852, 27911332, 28115638, 28120840, 28125085, 28159932, 28199839, 28284873, 28481536, 28570645, 28623256, 28634652, 28666123, 28728573, 28792153, 28879433, 29091570, 29292768, 29434172, 29434173, 29434179, 29712837, 29806836, 29904179, 29925309, 30188899, 30304024, 30368521, 30539904, 30660867, 30788592, 30870495, 31339938, 31476167, 31556165, 31588198, 31594243, 31693467, 31707372, 31888525, 31956255, 31956256, 31956257, 32011487, 32029694, 32066871, 32067433, 32092542, 32181591, 32337852, 32473148, 32511765, 32552676, 32829585, 32878721, 33058415, 33148303, 33168084, 33190150, 33197628, 33199817, 33265090, 33300159, 33317029, 33407722, 33429824, 33438800, 33462199, 33724218, 33789695, 33798739, 33979606, 34276047, 34542403, 34620959, 34638572, 34681015, 34719420, 34850360, 34997153, 35033190, 35205250, 35241415, 35289093, 35437095, 35440492, 35456491, 35605311, 35659528, 35667685, 35858773, 35885927, 35887289, 35955418, 36036285, 36062320, 36078032, 36278357, 36292797, 36319109, 36375840, 36376972, 36421785, 36460469, 36534265, 36607273, 36669496, 36776076, 36803361, 36859245, 36882285, 36897914, 37087898, 37148485, 37280513, 37369805, 37424474, 37458045, 37510307, 37542300, 37594310, 37596438, 37705059, 37750622, 37830588, 37964750, 37991656, 38136980, 38214229, 38284446, 38325644, 38600653, 39325116, 39327607, 39343938, 39506867, 39587573, 39920747, 40018937, 40022154, 40069872, 40076610, 40119448, 40225149, 40282862, 8730281, 8782046, 8787675, 8808598, 8824882, 8929942, 8981949, 9004135, 9192274, 9245983, 9345102, 9634516, 9708795, 9713008, 9719377, 9837824
Muscular Atrophy Spinal	Inhibit	12192051, 22233647, 25514431, 27621445, 28139824, 30565205, 32456992, 35000792, 35409296, 36314213, 36911944, 37543540
Muscular Dystrophies	Associate	36062320
Muscular Dystrophy Duchenne	Associate	37596438
Myasthenic Syndromes Congenital	Associate	39343938
Neoplasm Invasiveness	Associate	16286998
Neoplasms	Associate	11704667, 25011545, 27683180, 28248815, 28626969, 31760702, 32957984, 34967922, 35568949, 35642345, 36180576, 36675308, 36971797, 37658696, 40416971
Neoplasms	Stimulate	24083738
Nephritis Interstitial	Associate	18300128
Nerve Degeneration	Associate	16738131, 30368521, 36319109, 7813013
Nervous System Diseases	Associate	37369805
Neurodegenerative Diseases	Associate	10601333, 11389857, 17307868, 22607171, 23185376, 23496866, 26092730, 37369805
Neuromuscular Diseases	Associate	26739529, 30870495
Neuromuscular Manifestations	Associate	30870495
Neuronal Ceroid Lipofuscinoses	Associate	23185376
Osteogenesis imperfecta type 3	Associate	19271042, 8981949
Osteogenesis imperfecta type 3	Inhibit	19603064
Perivascular Epithelioid Cell Neoplasms	Associate	26722497, 34629813
Precancerous Conditions	Associate	40416971
Prodromal Symptoms	Associate	31760702
Prosthesis Failure	Associate	33979606
Protein Deficiency	Inhibit	25506695, 39587573
Scleroderma Systemic	Associate	26357964
Spinal Muscular Atrophies of Childhood	Associate	11266116, 11791208, 11924116, 12646976, 12768044, 15378550, 15719043, 18071605, 18974562, 19271042, 19997596, 21209906, 21762474, 21971302, 22971944, 26419278, 26468953, 26573968, 26607476, 28623256, 29091557, 29758563, 30304024, 30408476, 30548438, 31560180, 31589162, 32051521, 32144995, 32878721, 33168084, 33682724, 36292797, 36812914, 37038823, 37087898, 37424474, 8782046, 9004135, 9199562, 9713008, 9719377
Spinal Muscular Atrophies of Childhood	Inhibit	28159932
Spinal muscular atrophy 4	Associate	37964750
Squamous Cell Carcinoma of Head and Neck	Associate	28626969, 36675308
Wasting Syndrome	Associate	37705059