PYCR1 (pyrroline-5-carboxylate reductase 1)

Gene

• Entrez ID: 5831
• Gene name: Pyrroline-5-carboxylate reductase 1
• Gene symbol: PYCR1
• Synonyms (NCBI Gene): ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
• Disease Acronyms (UniProt): ARCL2B, ARCL3B
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34575645	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs121918374	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918375	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121918376	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121918377	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121918378	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs139751598	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs144346996	C>G	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs147653673	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149683289	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs281875318	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs281875319	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs752297179	C>A,T	Pathogenic	Splice donor variant
rs755867227	C>T	Pathogenic	Splice donor variant
rs758601634	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs762218403	->G	Pathogenic	Coding sequence variant, frameshift variant
rs770505872	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1057524460	C>T	Likely-pathogenic	Splice acceptor variant
rs1085307679	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1180294322	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1598354372	ACTGACCAGGAGGGCCTGGGCCC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1598358440	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598358449	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025563	hsa-miR-34a-5p	Proteomics	21566225
MIRT051571	hsa-let-7e-5p	CLASH	23622248
MIRT036631	hsa-miR-940	CLASH	23622248
MIRT732775	hsa-miR-2355-5p	PAR-CLIP	26701625
MIRT732775	hsa-miR-2355-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR, Western blotting	34239351
MIRT1279285	hsa-miR-124	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT1279289	hsa-miR-3714	CLIP-seq
MIRT1279290	hsa-miR-3910	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT1279308	hsa-miR-506	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT2307899	hsa-miR-1226	CLIP-seq
MIRT2307900	hsa-miR-1233	CLIP-seq
MIRT2307901	hsa-miR-129-3p	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2307903	hsa-miR-1470	CLIP-seq
MIRT2307904	hsa-miR-1539	CLIP-seq
MIRT2307905	hsa-miR-188-3p	CLIP-seq
MIRT2307906	hsa-miR-1915	CLIP-seq
MIRT2307907	hsa-miR-197	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT2307908	hsa-miR-29a	CLIP-seq
MIRT2307909	hsa-miR-29b	CLIP-seq
MIRT2307910	hsa-miR-29c	CLIP-seq
MIRT2307911	hsa-miR-3064-5p	CLIP-seq
MIRT2307912	hsa-miR-3607-5p	CLIP-seq
MIRT2307913	hsa-miR-3652	CLIP-seq
MIRT2307914	hsa-miR-3688-5p	CLIP-seq
MIRT2307915	hsa-miR-3689d	CLIP-seq
MIRT2307916	hsa-miR-383	CLIP-seq
MIRT2307917	hsa-miR-3918	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT2307919	hsa-miR-4430	CLIP-seq
MIRT2307920	hsa-miR-4433	CLIP-seq
MIRT2307921	hsa-miR-4436a	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT2307923	hsa-miR-4459	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307924	hsa-miR-4505	CLIP-seq
MIRT2307925	hsa-miR-450b-3p	CLIP-seq
MIRT2307926	hsa-miR-4512	CLIP-seq
MIRT2307927	hsa-miR-4514	CLIP-seq
MIRT2307928	hsa-miR-4520a-5p	CLIP-seq
MIRT2307929	hsa-miR-4520b-5p	CLIP-seq
MIRT2307930	hsa-miR-4530	CLIP-seq
MIRT2307931	hsa-miR-4640-5p	CLIP-seq
MIRT2307932	hsa-miR-4667-3p	CLIP-seq
MIRT2307933	hsa-miR-4692	CLIP-seq
MIRT2307934	hsa-miR-4701-5p	CLIP-seq
MIRT2307935	hsa-miR-4713-3p	CLIP-seq
MIRT2307936	hsa-miR-4722-5p	CLIP-seq
MIRT2307937	hsa-miR-4726-3p	CLIP-seq
MIRT2307938	hsa-miR-4726-5p	CLIP-seq
MIRT2307939	hsa-miR-4733-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2307941	hsa-miR-4756-3p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2307944	hsa-miR-4766-5p	CLIP-seq
MIRT2307945	hsa-miR-4768-3p	CLIP-seq
MIRT2307946	hsa-miR-4772-5p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT2307947	hsa-miR-488	CLIP-seq
MIRT2307948	hsa-miR-532-3p	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT2307949	hsa-miR-588	CLIP-seq
MIRT2307950	hsa-miR-634	CLIP-seq
MIRT2307951	hsa-miR-638	CLIP-seq
MIRT2307952	hsa-miR-663b	CLIP-seq
MIRT2307953	hsa-miR-769-3p	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605196	hsa-miR-3184	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT2605198	hsa-miR-423-5p	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT2605200	hsa-miR-4728-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IBA	21873635
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IDA	16730026, 23743200
GO:0005515	Function	Protein binding	IPI	23743200, 24930674, 32296183
GO:0005739	Component	Mitochondrion	IDA	19648921, 23743200
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006561	Process	Proline biosynthetic process	IDA	16730026
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0034599	Process	Cellular response to oxidative stress	IMP	19648921
GO:0042802	Function	Identical protein binding	IPI	2722838, 16730026
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	23743200
GO:0055129	Process	L-proline biosynthetic process	IBA	21873635
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:1903206	Process	Negative regulation of hydrogen peroxide-induced cell death	IMP	23743200

Other IDs

• MIM: 179035
• HGNC: 9721
• e!Ensembl: ENSG00000183010

Protein

• UniProt ID: P32322
• Protein name: Pyrroline-5-carboxylate reductase 1, mitochondrial (P5C reductase 1) (P5CR 1) (EC 1.5.1.2)
• Protein function: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic co
• PDB: 2GER, 2GR9, 2GRA, 2IZZ, 5UAT, 5UAU, 5UAV, 5UAW, 5UAX, 6XOZ, 6XP0, 6XP1, 6XP2, 6XP3, 8DKG, 8TCU, 8TCV, 8TCW, 8TCX, 8TCY, 8TCZ, 8TD0, 8TD1, 8TD2, 8TD3, 8TD4, 8TD5, 8TD6, 8TD7, 8TD8, 8TD9, 8TDB, 8TDC, 8TDD, 8VRE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03807	F420_oxidored	2 → 98	NADP oxidoreductase coenzyme F420-dependent	Family
  PF14748	P5CR_dimer	164 → 268	Pyrroline-5-carboxylate reductase dimerisation	Domain

• Sequence:

  MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETV
  QHSDVLFLAVKPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRC
  MTNTPVVVREGATVYATGTHAQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAY
  AFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLLHSEQHPGQLKDNVSSPGGATIH
  ALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPAAIKKTILDKVKLDSPAGTAL
  SPSGHTKLLPRSLAPAGKD

• Sequence length: 319

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Glutamate and glutamine metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa, Cutis Laxa, Autosomal Recessive, Type IIB, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, Autosomal recessive cutis laxa type 2B	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	24035636, 19576563, 19648921, 26516448, 22829427, 27604308, 11424136, 28294978, 22052856
De barsy syndrome	PYCR1-related De Barsy syndrome	rs121918377, rs121918378, rs121434583, rs863223315, rs758601634, rs587777858, rs863225045, rs1555262375, rs121918376, rs1555264243, rs1194593234, rs556267618, rs752297179, rs748925635
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
Geroderma osteodysplastica	Geroderma osteodysplastica	rs119455951, rs119455952, rs1330106644, rs183596463, rs1085307068, rs1557999318, rs369967804, rs1571243797, rs1571232872	24035636, 21204221
Glaucoma	Glaucoma of childhood	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	26516448
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	22052856, 19648921, 19576563, 24035636
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Geroderma Osteodysplastica	geroderma osteodysplastica			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	36371775
Agenesis of Corpus Callosum	Associate	23963297
Breast Neoplasms	Associate	30810442, 32960509, 33109600
Carcinogenesis	Stimulate	34696668
Carcinogenesis	Associate	35293266, 36624948
Carcinoma Hepatocellular	Stimulate	34271243
Carcinoma Hepatocellular	Associate	35293266
Carcinoma Non Small Cell Lung	Associate	36202977
Carcinoma Renal Cell	Associate	31305441, 31739630, 34559102, 36624948, 37340189, 37460577, 37517099, 40430095
Carcinoma Squamous Cell	Associate	39768999
Colorectal Neoplasms	Associate	37508547
Cutis Laxa	Associate	19576563
Cutis Laxa Autosomal Recessive Type I	Associate	19576563
Esophageal Squamous Cell Carcinoma	Associate	36978187
Hepatoblastoma	Associate	39684755
Lymphatic Metastasis	Stimulate	34559102
Mitochondrial Diseases	Associate	23963297, 37410216
Nasopharyngeal Neoplasms	Associate	34696668
Neoplasm Metastasis	Associate	31305441
Neoplasms	Associate	27452673, 31305441, 32960509, 33109600, 34559102, 36371775, 37517099, 39684755, 39768999
Neoplasms	Stimulate	29169183, 36624948, 38065270
Osteogenesis imperfecta type 1A	Associate	37410216
Osteosarcoma	Associate	40383808
Postural Orthostatic Tachycardia Syndrome	Associate	23963297
Precancerous Conditions	Associate	40430095
Progeria	Associate	30450527
Prostatic Neoplasms	Associate	12057920, 17553165
Sjogren's Syndrome	Associate	35359935
Urinary Bladder Neoplasms	Associate	33096258, 36227136