ACSF3 (acyl-CoA synthetase family member 3)

Gene

• Entrez ID: 197322
• Gene name: Acyl-CoA synthetase family member 3
• Gene symbol: ACSF3
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140986055	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs141090143	C>A,T	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs144681140	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs145583876	G>A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs150487794	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, coding sequence variant
rs201954387	G>A	Pathogenic	5 prime UTR variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs202182978	C>A,T	Likely-pathogenic	Synonymous variant, missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs370382601	A>G	Pathogenic	Initiator codon variant, missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs387907118	C>T	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs387907119	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant, downstream transcript variant
rs387907120	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387907121	T>A,G	Pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs570233664	G>A,T	Pathogenic	Non coding transcript variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained
rs748382994	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, stop gained, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs751342087	->G	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs752104014	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs752338222	G>T	Pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant
rs760759040	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs761573352	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, genic upstream transcript variant, missense variant
rs766764090	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant
rs796051924	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1064793662	CA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, downstream transcript variant, inframe indel, stop gained, 5 prime UTR variant, coding sequence variant
rs1131691498	G>A	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, intron variant, upstream transcript variant
rs1188774860	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1597898076	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024911	hsa-miR-215-5p	Microarray	19074876
MIRT026799	hsa-miR-192-5p	Microarray	19074876
MIRT763350	hsa-miR-4277	CLIP-seq
MIRT763351	hsa-miR-526b	CLIP-seq
MIRT763352	hsa-miR-1207-5p	CLIP-seq
MIRT763353	hsa-miR-1273	CLIP-seq
MIRT763354	hsa-miR-1293	CLIP-seq
MIRT763355	hsa-miR-1827	CLIP-seq
MIRT763356	hsa-miR-1915	CLIP-seq
MIRT763357	hsa-miR-192	CLIP-seq
MIRT763358	hsa-miR-203	CLIP-seq
MIRT763359	hsa-miR-215	CLIP-seq
MIRT763360	hsa-miR-2467-3p	CLIP-seq
MIRT763361	hsa-miR-3065-3p	CLIP-seq
MIRT763362	hsa-miR-3148	CLIP-seq
MIRT763363	hsa-miR-3151	CLIP-seq
MIRT763364	hsa-miR-3665	CLIP-seq
MIRT763365	hsa-miR-3675-5p	CLIP-seq
MIRT763366	hsa-miR-3683	CLIP-seq
MIRT763367	hsa-miR-3690	CLIP-seq
MIRT763368	hsa-miR-4254	CLIP-seq
MIRT763369	hsa-miR-4257	CLIP-seq
MIRT763370	hsa-miR-4268	CLIP-seq
MIRT763371	hsa-miR-4316	CLIP-seq
MIRT763372	hsa-miR-4446-3p	CLIP-seq
MIRT763373	hsa-miR-4446-5p	CLIP-seq
MIRT763374	hsa-miR-4447	CLIP-seq
MIRT763375	hsa-miR-4453	CLIP-seq
MIRT763376	hsa-miR-4459	CLIP-seq
MIRT763377	hsa-miR-4472	CLIP-seq
MIRT763378	hsa-miR-4483	CLIP-seq
MIRT763379	hsa-miR-4488	CLIP-seq
MIRT763380	hsa-miR-4492	CLIP-seq
MIRT763381	hsa-miR-4498	CLIP-seq
MIRT763382	hsa-miR-4505	CLIP-seq
MIRT763383	hsa-miR-4514	CLIP-seq
MIRT763384	hsa-miR-4538	CLIP-seq
MIRT763385	hsa-miR-4640-5p	CLIP-seq
MIRT763386	hsa-miR-4645-5p	CLIP-seq
MIRT763387	hsa-miR-4649-5p	CLIP-seq
MIRT763388	hsa-miR-4673	CLIP-seq
MIRT763389	hsa-miR-4692	CLIP-seq
MIRT763390	hsa-miR-4697-5p	CLIP-seq
MIRT763391	hsa-miR-4710	CLIP-seq
MIRT763392	hsa-miR-4726-3p	CLIP-seq
MIRT763393	hsa-miR-4726-5p	CLIP-seq
MIRT763394	hsa-miR-4731-5p	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT763396	hsa-miR-4736	CLIP-seq
MIRT763397	hsa-miR-4763-3p	CLIP-seq
MIRT763398	hsa-miR-4779	CLIP-seq
MIRT763399	hsa-miR-486-3p	CLIP-seq
MIRT763400	hsa-miR-513a-3p	CLIP-seq
MIRT763401	hsa-miR-541	CLIP-seq
MIRT763402	hsa-miR-570	CLIP-seq
MIRT763403	hsa-miR-637	CLIP-seq
MIRT763404	hsa-miR-654-5p	CLIP-seq
MIRT763405	hsa-miR-665	CLIP-seq
MIRT763406	hsa-miR-762	CLIP-seq
MIRT763407	hsa-miR-875-3p	CLIP-seq
MIRT763408	hsa-miR-940	CLIP-seq
MIRT1545054	hsa-miR-128	CLIP-seq
MIRT1545055	hsa-miR-4300	CLIP-seq
MIRT1545056	hsa-miR-920	CLIP-seq
MIRT2166345	hsa-miR-2113	CLIP-seq
MIRT2166346	hsa-miR-4265	CLIP-seq
MIRT2166347	hsa-miR-4296	CLIP-seq
MIRT2166348	hsa-miR-4322	CLIP-seq
MIRT2166349	hsa-miR-4648	CLIP-seq
MIRT2166350	hsa-miR-4654	CLIP-seq
MIRT2166351	hsa-miR-4769-5p	CLIP-seq
MIRT2464822	hsa-miR-146b-3p	CLIP-seq
MIRT2464823	hsa-miR-3173-5p	CLIP-seq
MIRT2464824	hsa-miR-3192	CLIP-seq
MIRT2464825	hsa-miR-326	CLIP-seq
MIRT2464826	hsa-miR-330-5p	CLIP-seq
MIRT2464827	hsa-miR-3649	CLIP-seq
MIRT763368	hsa-miR-4254	CLIP-seq
MIRT2464828	hsa-miR-4308	CLIP-seq
MIRT2464829	hsa-miR-4314	CLIP-seq
MIRT2464830	hsa-miR-4646-5p	CLIP-seq
MIRT2464831	hsa-miR-492	CLIP-seq
MIRT2464832	hsa-miR-874	CLIP-seq
MIRT2468889	hsa-miR-1538	CLIP-seq
MIRT2468890	hsa-miR-193a-3p	CLIP-seq
MIRT2468891	hsa-miR-193b	CLIP-seq
MIRT2468892	hsa-miR-3144-5p	CLIP-seq
MIRT2468893	hsa-miR-3160-3p	CLIP-seq
MIRT2468894	hsa-miR-3191	CLIP-seq
MIRT2468895	hsa-miR-4487	CLIP-seq
MIRT763382	hsa-miR-4505	CLIP-seq
MIRT2468896	hsa-miR-4652-5p	CLIP-seq
MIRT2468897	hsa-miR-4667-5p	CLIP-seq
MIRT2468898	hsa-miR-4700-5p	CLIP-seq
MIRT2468899	hsa-miR-4717-3p	CLIP-seq
MIRT763394	hsa-miR-4731-5p	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT2468900	hsa-miR-4745-3p	CLIP-seq
MIRT2468901	hsa-miR-4772-3p	CLIP-seq
MIRT2468902	hsa-miR-485-5p	CLIP-seq
MIRT2468903	hsa-miR-558	CLIP-seq
MIRT2468889	hsa-miR-1538	CLIP-seq
MIRT2468890	hsa-miR-193a-3p	CLIP-seq
MIRT2468891	hsa-miR-193b	CLIP-seq
MIRT2468893	hsa-miR-3160-3p	CLIP-seq
MIRT2468895	hsa-miR-4487	CLIP-seq
MIRT763395	hsa-miR-4733-3p	CLIP-seq
MIRT2468900	hsa-miR-4745-3p	CLIP-seq
MIRT2468901	hsa-miR-4772-3p	CLIP-seq
MIRT2468903	hsa-miR-558	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	21846720
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006631	Process	Fatty acid metabolic process	IDA	17762044
GO:0006633	Process	Fatty acid biosynthetic process	IBA	21873635
GO:0006633	Process	Fatty acid biosynthetic process	IDA	21846720
GO:0016405	Function	CoA-ligase activity	IBA	21873635
GO:0016878	Function	Acid-thiol ligase activity	IDA	17762044
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IBA	21873635
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	IDA	17762044
GO:0031957	Function	Very long-chain fatty acid-CoA ligase activity	TAS
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0090409	Function	Malonyl-CoA synthetase activity	IDA	21642549, 21846720
GO:0090410	Process	Malonate catabolic process	IDA	21642549, 21846720

Other IDs

• MIM: 614245
• HGNC: 27288
• e!Ensembl: ENSG00000176715

Protein

• UniProt ID: Q4G176
• Protein name: Malonate--CoA ligase ACSF3, mitochondrial (EC 6.2.1.76) (Acyl-CoA synthetase family member 3)
• Protein function: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester (PubMed:21841779, PubMed:21846720). May have some preference toward very-l
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00501	AMP-binding	46 → 480	AMP-binding enzyme	Family
  PF13193	AMP-binding_C	488 → 563	AMP-binding enzyme C-terminal domain	Domain

• Sequence:

  MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALV
  DQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGG
  VAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVVRKLGVPLLPLTPAIYTGAVE
  EPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
  VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKL
  MEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEI
  GMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEE
  KEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
  GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNV
  LAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS

• Sequence length: 576

Pathways

KEGG:

Fatty acid biosynthesis
Valine, leucine and isoleucine degradation
Metabolic pathways
Fatty acid metabolism

Reactome:

Synthesis of very long-chain fatty acyl-CoAs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Migraine	Migraine Disorders	rs794727411
Seizure	Complex partial seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Melanoma	Melanoma	SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells.		GWAS, CBGDA
Multiple Sclerosis	Multiple Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiovascular Diseases	Associate	31882500
Combined Malonic and Methylmalonic Aciduria	Associate	21841779, 33625768, 37987109
Immunologic Deficiency Syndromes	Inhibit	21841779
Stress Disorders Traumatic Acute	Associate	33625768