PPCS (phosphopantothenoylcysteine synthetase)

Gene

• Entrez ID: 79717
• Gene name: Phosphopantothenoylcysteine synthetase
• Gene symbol: PPCS
• Synonyms (NCBI Gene): CMD2C
• Disease Acronyms (UniProt): CMD2C
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (D

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019904	hsa-miR-375	Microarray	20215506
MIRT028370	hsa-miR-32-5p	Sequencing	20371350
MIRT044998	hsa-miR-186-5p	CLASH	23622248
MIRT726898	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726897	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028370	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT1252280	hsa-miR-24	CLIP-seq
MIRT1252281	hsa-miR-3065-3p	CLIP-seq
MIRT1252282	hsa-miR-3685	CLIP-seq
MIRT1252283	hsa-miR-384	CLIP-seq
MIRT1252284	hsa-miR-4284	CLIP-seq
MIRT1252285	hsa-miR-4307	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT1252287	hsa-miR-664	CLIP-seq
MIRT1252288	hsa-miR-137	CLIP-seq
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT1252280	hsa-miR-24	CLIP-seq
MIRT1252289	hsa-miR-25	CLIP-seq
MIRT1252290	hsa-miR-32	CLIP-seq
MIRT1252291	hsa-miR-363	CLIP-seq
MIRT1252292	hsa-miR-367	CLIP-seq
MIRT1252284	hsa-miR-4284	CLIP-seq
MIRT1252285	hsa-miR-4307	CLIP-seq
MIRT1252293	hsa-miR-4325	CLIP-seq
MIRT1252294	hsa-miR-4789-5p	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252287	hsa-miR-664	CLIP-seq
MIRT1252296	hsa-miR-92a	CLIP-seq
MIRT1252297	hsa-miR-92b	CLIP-seq
MIRT1252278	hsa-miR-190	CLIP-seq
MIRT1252279	hsa-miR-190b	CLIP-seq
MIRT2074306	hsa-miR-197	CLIP-seq
MIRT2074307	hsa-miR-3140-3p	CLIP-seq
MIRT2074308	hsa-miR-3674	CLIP-seq
MIRT2074309	hsa-miR-3675-3p	CLIP-seq
MIRT2074310	hsa-miR-4520a-3p	CLIP-seq
MIRT2074311	hsa-miR-4520b-3p	CLIP-seq
MIRT2074312	hsa-miR-4529-3p	CLIP-seq
MIRT2074313	hsa-miR-4703-3p	CLIP-seq
MIRT2074314	hsa-miR-5096	CLIP-seq
MIRT2074315	hsa-miR-592	CLIP-seq
MIRT2074316	hsa-miR-597	CLIP-seq
MIRT2074317	hsa-miR-599	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252288	hsa-miR-137	CLIP-seq
MIRT2074306	hsa-miR-197	CLIP-seq
MIRT1252289	hsa-miR-25	CLIP-seq
MIRT2074307	hsa-miR-3140-3p	CLIP-seq
MIRT1252290	hsa-miR-32	CLIP-seq
MIRT1252291	hsa-miR-363	CLIP-seq
MIRT1252292	hsa-miR-367	CLIP-seq
MIRT2074308	hsa-miR-3674	CLIP-seq
MIRT1252293	hsa-miR-4325	CLIP-seq
MIRT2074310	hsa-miR-4520a-3p	CLIP-seq
MIRT2074311	hsa-miR-4520b-3p	CLIP-seq
MIRT2074312	hsa-miR-4529-3p	CLIP-seq
MIRT2074313	hsa-miR-4703-3p	CLIP-seq
MIRT1252294	hsa-miR-4789-5p	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2074314	hsa-miR-5096	CLIP-seq
MIRT1252295	hsa-miR-603	CLIP-seq
MIRT1252296	hsa-miR-92a	CLIP-seq
MIRT1252297	hsa-miR-92b	CLIP-seq
MIRT2598010	hsa-miR-125a-3p	CLIP-seq
MIRT2598011	hsa-miR-132	CLIP-seq
MIRT2598012	hsa-miR-142-5p	CLIP-seq
MIRT2598013	hsa-miR-181a	CLIP-seq
MIRT2598014	hsa-miR-181b	CLIP-seq
MIRT2598015	hsa-miR-181c	CLIP-seq
MIRT2598016	hsa-miR-181d	CLIP-seq
MIRT2598017	hsa-miR-1972	CLIP-seq
MIRT2598018	hsa-miR-212	CLIP-seq
MIRT2598019	hsa-miR-3074-3p	CLIP-seq
MIRT2598020	hsa-miR-3168	CLIP-seq
MIRT2598021	hsa-miR-324-5p	CLIP-seq
MIRT2598022	hsa-miR-330-3p	CLIP-seq
MIRT2598023	hsa-miR-340	CLIP-seq
MIRT2598024	hsa-miR-3662	CLIP-seq
MIRT2598025	hsa-miR-376c	CLIP-seq
MIRT2598026	hsa-miR-3913-3p	CLIP-seq
MIRT2598027	hsa-miR-3934	CLIP-seq
MIRT2598028	hsa-miR-410	CLIP-seq
MIRT2598029	hsa-miR-4255	CLIP-seq
MIRT2598030	hsa-miR-4262	CLIP-seq
MIRT2598031	hsa-miR-4272	CLIP-seq
MIRT2598032	hsa-miR-4277	CLIP-seq
MIRT2598033	hsa-miR-4422	CLIP-seq
MIRT2598034	hsa-miR-4426	CLIP-seq
MIRT2598035	hsa-miR-4477b	CLIP-seq
MIRT2598036	hsa-miR-4647	CLIP-seq
MIRT2598037	hsa-miR-4650-5p	CLIP-seq
MIRT2598038	hsa-miR-4662b	CLIP-seq
MIRT2598039	hsa-miR-4695-3p	CLIP-seq
MIRT2598040	hsa-miR-4698	CLIP-seq
MIRT2598041	hsa-miR-4778-3p	CLIP-seq
MIRT2598042	hsa-miR-489	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2598043	hsa-miR-501-5p	CLIP-seq
MIRT2598044	hsa-miR-515-5p	CLIP-seq
MIRT2598045	hsa-miR-548m	CLIP-seq
MIRT2598046	hsa-miR-591	CLIP-seq
MIRT2598047	hsa-miR-607	CLIP-seq
MIRT2598048	hsa-miR-764	CLIP-seq
MIRT2598011	hsa-miR-132	CLIP-seq
MIRT2598012	hsa-miR-142-5p	CLIP-seq
MIRT2598013	hsa-miR-181a	CLIP-seq
MIRT2598014	hsa-miR-181b	CLIP-seq
MIRT2598015	hsa-miR-181c	CLIP-seq
MIRT2598016	hsa-miR-181d	CLIP-seq
MIRT2598017	hsa-miR-1972	CLIP-seq
MIRT2598018	hsa-miR-212	CLIP-seq
MIRT2598019	hsa-miR-3074-3p	CLIP-seq
MIRT2598020	hsa-miR-3168	CLIP-seq
MIRT2598021	hsa-miR-324-5p	CLIP-seq
MIRT2598022	hsa-miR-330-3p	CLIP-seq
MIRT2598023	hsa-miR-340	CLIP-seq
MIRT2598024	hsa-miR-3662	CLIP-seq
MIRT2598025	hsa-miR-376c	CLIP-seq
MIRT2598026	hsa-miR-3913-3p	CLIP-seq
MIRT2598028	hsa-miR-410	CLIP-seq
MIRT2598029	hsa-miR-4255	CLIP-seq
MIRT2598030	hsa-miR-4262	CLIP-seq
MIRT2598031	hsa-miR-4272	CLIP-seq
MIRT2598032	hsa-miR-4277	CLIP-seq
MIRT2598033	hsa-miR-4422	CLIP-seq
MIRT2598034	hsa-miR-4426	CLIP-seq
MIRT2598035	hsa-miR-4477b	CLIP-seq
MIRT2598036	hsa-miR-4647	CLIP-seq
MIRT2598037	hsa-miR-4650-5p	CLIP-seq
MIRT2598038	hsa-miR-4662b	CLIP-seq
MIRT2598039	hsa-miR-4695-3p	CLIP-seq
MIRT2598040	hsa-miR-4698	CLIP-seq
MIRT2598041	hsa-miR-4778-3p	CLIP-seq
MIRT2598042	hsa-miR-489	CLIP-seq
MIRT1252286	hsa-miR-500a	CLIP-seq
MIRT2598043	hsa-miR-501-5p	CLIP-seq
MIRT2598044	hsa-miR-515-5p	CLIP-seq
MIRT2598045	hsa-miR-548m	CLIP-seq
MIRT2598046	hsa-miR-591	CLIP-seq
MIRT2598047	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003015	Process	Heart process	IMP	29754768
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IBA	21873635
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IDA	11923312
GO:0004632	Function	Phosphopantothenate--cysteine ligase activity	IMP	29754768
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006085	Process	Acetyl-CoA biosynthetic process	IMP	29754768
GO:0015937	Process	Coenzyme A biosynthetic process	IBA	21873635
GO:0015937	Process	Coenzyme A biosynthetic process	IDA	11923312
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IMP	29754768
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042803	Function	Protein homodimerization activity	IMP	29754768

Other IDs

• MIM: 609853
• HGNC: 25686
• e!Ensembl: ENSG00000127125

Protein

• UniProt ID: Q9HAB8
• Protein name: Phosphopantothenate--cysteine ligase (EC 6.3.2.51) (Phosphopantothenoylcysteine synthetase) (PPC synthetase)
• Protein function: Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for A
• PDB: 1P9O, 7EDZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04127	DFP	32 → 96	DNA / pantothenate metabolism flavoprotein	Family
  PF04127	DFP	135 → 279	DNA / pantothenate metabolism flavoprotein	Family

• Sequence:

  MAEMDPVAEFPQPPGAARWAEVMARFAARLGAQGRRVVLVTSGGTKVPLEARPVRFLDNF
  SSGRRGATSAEAFLAAGYGVLFLYRARSAFPYAHRFPPQTWLSALRPSGPALSGLLSLEA
  EENALPGFAEALRSYQEAAAAGTFLAVEFTTLADYLHLLQAAAQALNPLGPSAMFYLAAA
  VSDFYVPVSEMPEHKIQSSGGPLQITMKMVPKLLSPLVKDWAPKAFIISFKLETDPAIVI
  NRARKALEIYQHQVVVANILESRQSFVFIVTKDSETKLLLSEEEIEKGVEIEEKIVDNLQ
  SRHTAFIGDRN

• Sequence length: 311

Pathways

KEGG:

Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Coenzyme A biosynthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathy, Dilated, Familial dilated cardiomyopathy, CARDIOMYOPATHY, DILATED, 2C	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	29754768
Dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	rs267607003, rs267607001, rs267607002, rs267607004, rs119463990, rs587777748, rs119463991, rs119463993, rs119464997, rs267606814, rs121908334, rs121909304, rs1369919728, rs121909295, rs121909297, rs9809219, rs137852767, rs137852768, rs137854618, rs137854607, rs128627255, rs104894797, rs121964855, rs121964858, rs74315379, rs74315380, rs121964860, rs267607130, rs267607129, rs104893823, rs267607125, rs104894503, rs2147483647, rs267607155, rs267607158, rs111033559, rs111033560, rs121913627, rs121913637, rs121913642, rs121913643, rs36211715, rs730880850, rs267606906, rs58932704, rs28928900, rs28933091, rs28933092, rs56771886, rs61672878, rs28933093, rs56699480, rs56984562, rs398122853, rs387906780, rs387906875, rs1589630173, rs387907188, rs199476316, rs199476321, rs199476311, rs387907208, rs387907209, rs387907227, rs387907228, rs193922683, rs267607578, rs45546039, rs397514507, rs730881003, rs397516089, rs397516153, rs397516155, rs397516160, rs397516165, rs145213771, rs397516254, rs397516258, rs397516260, rs397516266, rs397516355, rs397516373, rs397516455, rs397516457, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs397516784, rs397517626, rs72646846, rs397517689, rs397517735, rs397517776, rs397517889, rs57508089, rs61726475, rs61195471, rs60682848, rs56816490, rs202115331, rs61295588, rs267607486, rs267607617, rs267607592, rs267607581, rs61444459, rs57077886, rs61661343, rs267607570, rs267607589, rs59026483, rs267607571, rs57045855, rs80356807, rs58327533, rs59332535, rs267607591, rs59684335, rs199473161, rs398123557, rs398123828, rs398123839, rs398123923, rs398123981, rs397516828, rs869320740, rs869320741, rs606231334, rs606231324, rs587782077, rs587777586, rs373286166, rs727504255, rs727504246, rs727503546, rs727503559, rs727502886, rs727504531, rs371678190, rs727503261, rs397516171, rs727503253, rs2754158, rs574660186, rs730881116, rs730880759, rs786205144, rs794726993, rs794728593, rs794728594, rs794728613, rs397514450, rs770873593, rs794728072, rs794729305, rs794729367, rs794729365, rs769488730, rs794729300, rs794729356, rs794729384, rs794729343, rs794729382, rs794729286, rs794729285, rs794729284, rs794729339, rs781540455, rs794729281, rs794729332, rs794729331, rs794729280, rs794729278, rs768431507, rs794729324, rs794729323, rs754866489, rs374140736, rs794729319, rs794729311, rs771511344, rs797045088, rs781764920, rs863224999, rs1057515421, rs869025545, rs869025549, rs869312028, rs869312047, rs869312055, rs770038577, rs869312065, rs764243269, rs768345594, rs869312081, rs72648250, rs869312085, rs756367933, rs869312104, rs770767998, rs775186117, rs869312112, rs774604740, rs779996703, rs869312121, rs727503512, rs876657666, rs869248137, rs876658637, rs774395395, rs878854281, rs878854433, rs878854432, rs767450912, rs878854335, rs878854332, rs878854322, rs878854315, rs878854632, rs878854627, rs752360961, rs878854782, rs730882262, rs886037909, rs886037905, rs886038916, rs886038831, rs886039027, rs754664923, rs869038795, rs202094100, rs1114167323, rs1114167324, rs1114167335, rs1114167333, rs1553939749, rs1114167332, rs1114167331, rs1114167341, rs886043924, rs886044536, rs1057516966, rs750176716, rs1057518195, rs1057518962, rs1057518834, rs1057519573, rs1057522256, rs780415493, rs545954490, rs1060500544, rs1060500514, rs1553614378, rs1060500593, rs1060500399, rs1060500572, rs1060500575, rs1060500405, rs1060500479, rs751319893, rs1553643260, rs1060500420, rs1060500442, rs1064792914, rs1060500489, rs1064792915, rs940845256, rs1554001843, rs771328239, rs1554877224, rs796734066, rs1064793419, rs1064796323, rs776065839, rs1064795407, rs1064793911, rs1064793845, rs1064796112, rs752948913, rs1064793567, rs1085307600, rs1135402750, rs1553265739, rs1553882262, rs1553524807, rs1553603152, rs1553636324, rs1553754743, rs1553482872, rs1553501572, rs1322596650, rs1553504889, rs752697861, rs1219954334, rs1553628052, rs1553636843, rs1553562793, rs1553692107, rs1476017129, rs1466647934, rs1553649171, rs1553661994, rs1553682760, rs1553693444, rs778207102, rs1554000360, rs1553999072, rs1553997617, rs1554399014, rs1555179320, rs398123909, rs775827529, rs1554002451, rs1213930919, rs794728598, rs1553539391, rs1419374180, rs1276849351, rs1553490574, rs1477101279, rs1554875409, rs1250461669, rs1553265180, rs58362413, rs1553565316, rs1553659902, rs1553703310, rs1554898987, rs971618751, rs747286444, rs886042604, rs1554275988, rs1553524697, rs1553692435, rs775143272, rs1553974835, rs1555337916, rs1554761402, rs1554761462, rs1553265736, rs747236787, rs1559598775, rs1343120755, rs553526525, rs1483931960, rs2092847994, rs1554094927, rs1560994766, rs1562498114, rs865921466, rs958678700, rs771262904, rs760915007, rs1595084583, rs1559321340, rs1559449398, rs1564301594, rs1203741361, rs766265889, rs1165819867, rs1575283255, rs570046043, rs1218695159, rs1589632876, rs1553261891, rs72648224, rs747469275, rs1588222602, rs1589608098, rs1591950473, rs1575540533, rs1396851699, rs1592166720, rs769912484, rs1576251664, rs1588112379, rs1603222556, rs2044646731, rs267607622, rs1566533919, rs1572370360, rs769097909, rs1578126437, rs1574982376, rs1574066113, rs1566531303, rs1200988060, rs1579410180, rs1572112489, rs772061676, rs769664554, rs1703664543, rs1559301344, rs886055237, rs1708864326, rs1330960948, rs2051361827, rs376799532, rs2060187635, rs1396898734, rs767865405, rs377417974, rs1847236575, rs1415997308, rs1735710012, rs1941815245, rs2052563186
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease term	Disease name	Evidence	References	Source
Dilated Cardiomyopathy	familial isolated dilated cardiomyopathy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Cardiomyopathy Dilated	Associate	35397396
Citrullinemia	Associate	35397396
Neurodegenerative Diseases	Associate	35397396
Pantothenate Kinase Associated Neurodegeneration	Associate	35397396