ORC1 (origin recognition complex subunit 1)

Gene

• Entrez ID: 4998
• Gene name: Origin recognition complex subunit 1
• Gene symbol: ORC1
• Synonyms (NCBI Gene): HSORC1, ORC1L, PARC1
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143141689	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs201253919	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906826	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906827	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906828	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312957	C>A,G	Likely-pathogenic	Splice donor variant
rs869312969	C>A	Likely-pathogenic	Splice acceptor variant
rs1378348220	T>C	Pathogenic	Splice acceptor variant
rs1557573504	AC>T	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023064	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024795	hsa-miR-215-5p	Microarray	19074876
MIRT026765	hsa-miR-192-5p	Microarray	19074876
MIRT044432	hsa-miR-320a	CLASH	23622248
MIRT040662	hsa-miR-92b-3p	CLASH	23622248
MIRT541936	hsa-miR-3667-5p	HITS-CLIP	23313552
MIRT541937	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT541935	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT541934	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT541933	hsa-miR-451b	HITS-CLIP	23313552
MIRT692953	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT541931	hsa-miR-6501-3p	HITS-CLIP	23313552
MIRT541932	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT541930	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT541929	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT541928	hsa-miR-4421	HITS-CLIP	23313552
MIRT541927	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT692952	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT692951	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT692950	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT692949	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT692948	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT541926	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT541925	hsa-miR-4486	HITS-CLIP	23313552
MIRT541924	hsa-miR-4725-5p	HITS-CLIP	23313552
MIRT541923	hsa-miR-4696	HITS-CLIP	23313552
MIRT541922	hsa-miR-661	HITS-CLIP	23313552
MIRT541921	hsa-miR-1273a	HITS-CLIP	23313552
MIRT541920	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT541918	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT541919	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT541917	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT541936	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT541937	hsa-miR-10a-5p	PAR-CLIP	21572407
MIRT541935	hsa-miR-10b-5p	PAR-CLIP	21572407
MIRT541934	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541933	hsa-miR-451b	PAR-CLIP	21572407
MIRT541931	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT541932	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541930	hsa-miR-339-5p	PAR-CLIP	21572407
MIRT541929	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541928	hsa-miR-4421	PAR-CLIP	21572407
MIRT541927	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT541926	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541925	hsa-miR-4486	PAR-CLIP	21572407
MIRT541924	hsa-miR-4725-5p	PAR-CLIP	21572407
MIRT541923	hsa-miR-4696	PAR-CLIP	21572407
MIRT541922	hsa-miR-661	PAR-CLIP	21572407
MIRT541921	hsa-miR-1273a	PAR-CLIP	21572407
MIRT541920	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT541918	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT541919	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541917	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541916	hsa-miR-7703	PAR-CLIP	21572407
MIRT541936	hsa-miR-3667-5p	HITS-CLIP	23313552
MIRT541937	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT541935	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT541934	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT541933	hsa-miR-451b	HITS-CLIP	23313552
MIRT692953	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT541931	hsa-miR-6501-3p	HITS-CLIP	23313552
MIRT541932	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT541930	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT541929	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT541928	hsa-miR-4421	HITS-CLIP	23313552
MIRT541927	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT692952	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT692951	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT692950	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT692949	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT692948	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT541926	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT541925	hsa-miR-4486	HITS-CLIP	23313552
MIRT541924	hsa-miR-4725-5p	HITS-CLIP	23313552
MIRT541923	hsa-miR-4696	HITS-CLIP	23313552
MIRT541922	hsa-miR-661	HITS-CLIP	23313552
MIRT541921	hsa-miR-1273a	HITS-CLIP	23313552
MIRT541920	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT541918	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT541919	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT541917	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT541936	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT541937	hsa-miR-10a-5p	PAR-CLIP	21572407
MIRT541935	hsa-miR-10b-5p	PAR-CLIP	21572407
MIRT541934	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541933	hsa-miR-451b	PAR-CLIP	21572407
MIRT541931	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT541932	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541930	hsa-miR-339-5p	PAR-CLIP	21572407
MIRT541929	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541928	hsa-miR-4421	PAR-CLIP	21572407
MIRT541927	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT541926	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541925	hsa-miR-4486	PAR-CLIP	21572407
MIRT541924	hsa-miR-4725-5p	PAR-CLIP	21572407
MIRT541923	hsa-miR-4696	PAR-CLIP	21572407
MIRT541922	hsa-miR-661	PAR-CLIP	21572407
MIRT541921	hsa-miR-1273a	PAR-CLIP	21572407
MIRT541920	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT541918	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT541919	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541917	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541916	hsa-miR-7703	PAR-CLIP	21572407
MIRT1205266	hsa-miR-1253	CLIP-seq
MIRT1205267	hsa-miR-3922-5p	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT1205269	hsa-miR-4712-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT1205271	hsa-miR-587	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT1205266	hsa-miR-1253	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT1205267	hsa-miR-3922-5p	CLIP-seq
MIRT1205269	hsa-miR-4712-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2585501	hsa-miR-1283	CLIP-seq
MIRT2585502	hsa-miR-146b-3p	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT2585503	hsa-miR-4684-5p	CLIP-seq
MIRT2585504	hsa-miR-4786-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2585505	hsa-miR-548c-3p	CLIP-seq
MIRT2585506	hsa-miR-593	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2585501	hsa-miR-1283	CLIP-seq
MIRT2585502	hsa-miR-146b-3p	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT2585503	hsa-miR-4684-5p	CLIP-seq
MIRT2585504	hsa-miR-4786-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2585505	hsa-miR-548c-3p	CLIP-seq
MIRT2585506	hsa-miR-593	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000808	Component	Origin recognition complex	IDA	17716973
GO:0003677	Function	DNA binding	TAS	7502077
GO:0003682	Function	Chromatin binding	IEA
GO:0003688	Function	DNA replication origin binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11931757, 15232106, 16549788, 16799465, 17716973, 18946490, 22398447, 26496610, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	TAS	7502077
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005664	Component	Nuclear origin of replication recognition complex	IBA	21873635
GO:0005664	Component	Nuclear origin of replication recognition complex	IDA	20932478, 21029866
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006270	Process	DNA replication initiation	IBA	21873635
GO:0016887	Function	ATPase activity	IEA
GO:0033314	Process	Mitotic DNA replication checkpoint	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 601902
• HGNC: 8487
• e!Ensembl: ENSG00000085840

Protein

• UniProt ID: Q13415
• Protein name: Origin recognition complex subunit 1 (Replication control protein 1)
• Protein function: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication
• PDB: 5UJ7, 5UJM, 6P3W, 7CTF, 7CTG, 7JPO, 7JPP, 7JPR, 7JPS, 8RWV, 8S0C, 8S0D, 8S0E, 8S0F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01426	BAH	45 → 169	BAH domain	Domain
  PF00004	AAA	530 → 675	ATPase family associated with various cellular activities (AAA)	Domain
  PF17872	AAA_lid_10	669 → 738	AAA lid domain	Domain
  PF09079	Cdc6_C	778 → 857	CDC6, C terminal winged helix domain	Domain

• Sequence:

  MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDD
  ENPYVAKLLELFEDDSDPPPKKRARVQWFVRFCEVPACKRHLLGRKPGAQEIFWYDYPAC
  DSNINAETIIGLVRVIPLAPKDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQ
  ESAAKCQKPVRAKSKSAESPSWTPAEHVAKRIESRHSASKSRQTPTHPLTPRARKRLELG
  NLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQPDKLQTLSPALKAPEKTRETG
  LSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPSVILKPENIKK
  RDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGNSKSDQEEKEILPAAEISDSS
  SDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLA
  AQEPASVLEEARLRLHVSAVPESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGK
  TATVHEVIRCLQQAAQANDVPPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAEL
  LAKQFCTRGSPQETTVLLVDELDLLWTHKQDIMYNLFDWPTHKEARLVVLAIANTMDLPE
  RIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAFEDDAIQLVARKVAALSGDAR
  RCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNSSVLEQSFLRA
  ILAEFRRSGLEEATFQQIYSQHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRND
  LLLRVRLNVSQDDVLYALKDE

• Sequence length: 861

Pathways

KEGG:

Cell cycle

Reactome:

Activation of ATR in response to replication stress
Assembly of the ORC complex at the origin of replication
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
G1/S-Specific Transcription

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Meier-gorlin syndrome	MEIER-GORLIN SYNDROME 1	rs121918494, rs387906826, rs143141689, rs387906828, rs1557573504, rs1378348220, rs387906842, rs387906847, rs797044461, rs387906917, rs147914553, rs779871947, rs387906918, rs200652608, rs786205258, rs387906969, rs587780305, rs864309486, rs864309487, rs864309488, rs797045852, rs1085307083, rs754080445, rs879255632, rs879255633, rs146559223, rs879255692, rs1131692169, rs777153067, rs751663397, rs752023208	21358632, 21358631, 22855792, 24896178, 21358633, 25689043, 23023959, 8943353
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
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	21358633
Microlissencephaly	Microlissencephaly	rs771116788	21358633
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493	21358633
Osteochondritis dissecans	Osteochondritis Dissecans	rs1596128699, rs1596144242
Seckel syndrome	Seckel syndrome	rs864321658, rs587776883, rs966888627, rs1349385657, rs1164567042, rs387907327, rs587777614, rs587777851, rs587777852, rs797045403, rs797045452, rs797045450, rs797045449, rs797045448, rs777893196, rs797045447, rs797045454, rs747680111, rs767664526, rs864622784, rs746387482, rs757613817, rs773917653, rs762396810, rs1060499557, rs1131691823, rs1553760567, rs1342429887, rs1553761113, rs1481733213, rs373844676	21358633

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar
Gorlin Syndrome	Meier-Gorlin syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	39334882
Adenocarcinoma of Lung	Associate	32121037, 36205357
Arrhythmogenic Right Ventricular Dysplasia	Associate	31843279
Breast Neoplasms	Associate	21040551, 35639264
Carcinogenesis	Associate	36205357
Carcinoma Hepatocellular	Associate	34853791
Colorectal Neoplasms	Associate	37945594
Craniofacial Fibrous Dysplasia	Associate	33157955
Developmental Disabilities	Associate	33157955
Drug Hypersensitivity	Stimulate	23364533
Drug Related Side Effects and Adverse Reactions	Associate	32397857
Dwarfism	Associate	22855792
Ear Diseases	Associate	23516378
Ectodermal Dysplasia	Associate	37833711
Esophageal Squamous Cell Carcinoma	Associate	35574843
Fanconi Anemia	Associate	34404366
Fetal Growth Retardation	Associate	28198391
Genetic Diseases Inborn	Associate	21358632
Glioblastoma	Associate	36906590
Growth Disorders	Associate	22333897, 33157955
HHH syndrome	Associate	12807890, 24721342
Intellectual Disability	Associate	33157955
Leukemia	Associate	22045277
Leukemia Myeloid Acute	Associate	33375770
Leukoencephalopathies	Associate	33157955
Meier Gorlin syndrome	Associate	21358632, 22333897, 22855792, 23516378, 25689043, 27374770, 28198391, 29036220
Microcephaly	Associate	22855792, 23516378, 33157955
Mulibrey Nanism	Associate	29940807
Musculoskeletal Abnormalities	Associate	23516378
Neoplasms	Associate	23364533, 32121037, 32989049, 35131863, 35254385, 35639264, 35643181, 37029129, 37833711
Pancreatic Neoplasms	Associate	33804148
Pituitary dwarfism 1	Associate	23516378
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	35794338
Psoriasis	Associate	31067781
Recombinant chromosome 8 syndrome	Associate	37029129
Squamous Cell Carcinoma of Head and Neck	Associate	31391008
Triple Negative Breast Neoplasms	Associate	32766313
Urinary Bladder Neoplasms	Associate	35685866