TP73 (tumor protein p73)

Gene

• Entrez ID: 7161
• Gene name: Tumor protein p73
• Gene symbol: TP73
• Synonyms (NCBI Gene): CILD47, P73
• Disease Acronyms (UniProt): CILD47
• Chromosome: 1
• Chromosome location: 1p36.32
• Summary: This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain mul

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005603	hsa-miR-193a-5p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	21293058
MIRT006897	hsa-miR-205-5p	qRT-PCR, Western blot	22871739
MIRT625736	hsa-miR-320a	HITS-CLIP	23824327
MIRT625735	hsa-miR-320b	HITS-CLIP	23824327
MIRT625734	hsa-miR-320c	HITS-CLIP	23824327
MIRT625733	hsa-miR-320d	HITS-CLIP	23824327
MIRT625732	hsa-miR-4429	HITS-CLIP	23824327
MIRT625731	hsa-miR-548at-5p	HITS-CLIP	23824327
MIRT625730	hsa-miR-4750-3p	HITS-CLIP	23824327
MIRT625729	hsa-miR-1180-5p	HITS-CLIP	23824327
MIRT625728	hsa-miR-7114-3p	HITS-CLIP	23824327
MIRT625727	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT625726	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT734575	hsa-miR-105-3p	qRT-PCR	33123477
MIRT625736	hsa-miR-320a	HITS-CLIP	23824327
MIRT625735	hsa-miR-320b	HITS-CLIP	23824327
MIRT625734	hsa-miR-320c	HITS-CLIP	23824327
MIRT625733	hsa-miR-320d	HITS-CLIP	23824327
MIRT625732	hsa-miR-4429	HITS-CLIP	23824327
MIRT625731	hsa-miR-548at-5p	HITS-CLIP	23824327
MIRT625730	hsa-miR-4750-3p	HITS-CLIP	23824327
MIRT625729	hsa-miR-1180-5p	HITS-CLIP	23824327
MIRT625728	hsa-miR-7114-3p	HITS-CLIP	23824327
MIRT625727	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT625726	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1448893	hsa-miR-200b	CLIP-seq
MIRT1448894	hsa-miR-200c	CLIP-seq
MIRT1448895	hsa-miR-374c	CLIP-seq
MIRT1448896	hsa-miR-423-3p	CLIP-seq
MIRT1448897	hsa-miR-4271	CLIP-seq
MIRT1448898	hsa-miR-429	CLIP-seq
MIRT1448899	hsa-miR-4725-3p	CLIP-seq
MIRT1448900	hsa-miR-655	CLIP-seq
MIRT1448901	hsa-miR-885-5p	CLIP-seq
MIRT1448902	hsa-miR-1273f	CLIP-seq
MIRT1448903	hsa-miR-1321	CLIP-seq
MIRT1448904	hsa-miR-3162-5p	CLIP-seq
MIRT1448905	hsa-miR-3671	CLIP-seq
MIRT1448906	hsa-miR-4739	CLIP-seq
MIRT1448907	hsa-miR-4756-5p	CLIP-seq
MIRT1448908	hsa-miR-125a-5p	CLIP-seq
MIRT1448909	hsa-miR-125b	CLIP-seq
MIRT1448910	hsa-miR-1270	CLIP-seq
MIRT1448911	hsa-miR-147b	CLIP-seq
MIRT1448912	hsa-miR-210	CLIP-seq
MIRT1448913	hsa-miR-2113	CLIP-seq
MIRT1448914	hsa-miR-4319	CLIP-seq
MIRT1448915	hsa-miR-4324	CLIP-seq
MIRT1448916	hsa-miR-4531	CLIP-seq
MIRT1448917	hsa-miR-4537	CLIP-seq
MIRT1448918	hsa-miR-620	CLIP-seq
MIRT1448919	hsa-miR-943	CLIP-seq
MIRT2442763	hsa-miR-1283	CLIP-seq
MIRT2442764	hsa-miR-4698	CLIP-seq
MIRT2442765	hsa-miR-516a-3p	CLIP-seq
MIRT2462189	hsa-miR-2355-5p	CLIP-seq
MIRT2462190	hsa-miR-338-3p	CLIP-seq
MIRT2462191	hsa-miR-4450	CLIP-seq
MIRT2462192	hsa-miR-4488	CLIP-seq
MIRT2462193	hsa-miR-4530	CLIP-seq
MIRT2462194	hsa-miR-4667-5p	CLIP-seq
MIRT2462195	hsa-miR-4675	CLIP-seq
MIRT2462196	hsa-miR-4697-5p	CLIP-seq
MIRT2462197	hsa-miR-4700-5p	CLIP-seq
MIRT2462198	hsa-miR-4741	CLIP-seq
MIRT2462199	hsa-miR-637	CLIP-seq
MIRT2462200	hsa-miR-922	CLIP-seq
MIRT2442763	hsa-miR-1283	CLIP-seq
MIRT2649131	hsa-miR-3167	CLIP-seq
MIRT2649132	hsa-miR-3668	CLIP-seq
MIRT2649133	hsa-miR-4422	CLIP-seq
MIRT2442764	hsa-miR-4698	CLIP-seq
MIRT2649134	hsa-miR-5096	CLIP-seq
MIRT2442765	hsa-miR-516a-3p	CLIP-seq
MIRT2649135	hsa-miR-876-5p	CLIP-seq
MIRT2442763	hsa-miR-1283	CLIP-seq
MIRT2442764	hsa-miR-4698	CLIP-seq
MIRT2442765	hsa-miR-516a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	11115495;12766778;17980704
E2F1	Unknown	11988839;19188449
EGR1	Unknown	16990849
EP300	Activation	11115495
JUN	Unknown	15302867
KAT2B	Unknown	19188449
MYC	Activation	11115495
SIRT1	Unknown	19188449
TP53	Unknown	11238924;16990849
YY1	Activation	17980704

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	16343436
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	16343436
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	24652652
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	16343436
GO:0001822	Process	Kidney development	IEA
GO:0002039	Function	P53 binding	IPI	25417702
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15678106
GO:0003700	Function	DNA-binding transcription factor activity	IMP	25417702
GO:0005515	Function	Protein binding	IPI	10469568, 11706030, 14729977, 15678106, 16998810, 17592138, 18275817, 18280240, 18768816, 19218448, 19581926, 19815500, 20615966, 22252508, 22340593, 25283809, 25331851
GO:0005634	Component	Nucleus	IDA	19490146
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006298	Process	Mismatch repair	TAS	10391249
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	18174154
GO:0007050	Process	Cell cycle arrest	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	18634800
GO:0008134	Function	Transcription factor binding	IPI	18421303
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	TAS	10391251
GO:0010243	Process	Response to organonitrogen compound	IEA
GO:0010468	Process	Regulation of gene expression	IMP	18634800
GO:0016032	Process	Viral process	IEA
GO:0019901	Function	Protein kinase binding	IPI	18174154, 19490146
GO:0030054	Component	Cell junction	IDA
GO:0042493	Process	Response to drug	IEA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IDA	18174154, 19490146
GO:0042802	Function	Identical protein binding	IPI	10373484, 19815500, 22340593, 22474346
GO:0042981	Process	Regulation of apoptotic process	TAS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15678106, 16343436
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	25417702
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16343436, 18174154, 18421303, 19490146, 24652652
GO:0046872	Function	Metal ion binding	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0051262	Process	Protein tetramerization	IEA
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IMP	18634800
GO:0071158	Process	Positive regulation of cell cycle arrest	IDA	18421303
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	25417702
GO:1900740	Process	Positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS

Other IDs

• MIM: 601990
• HGNC: 12003
• e!Ensembl: ENSG00000078900

Protein

• UniProt ID: O15350
• Protein name: Tumor protein p73 (p53-like transcription factor) (p53-related protein)
• Protein function: Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor
• PDB: 1COK, 1DXS, 2KBY, 2MPS, 2NB1, 2WQI, 2WQJ, 2WTT, 2XWC, 3VD0, 3VD1, 3VD2, 4A63, 4G82, 4G83, 4GUO, 4GUQ, 5HOB, 5HOC, 5KBD, 6FGS, 6IJQ, 7EZJ, 8P9C, 8P9D, 8P9E, 9GLQ, 9GNB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00870	P53	117 → 309	P53 DNA-binding domain	Domain
  PF07710	P53_tetramer	345 → 384	P53 tetramerisation motif	Motif
  PF07647	SAM_2	485 → 549	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in striatal neurons of patients with Huntington disease (at protein level). Brain, kidney, placenta, colon, heart, liver, spleen, skeletal muscle, prostate, thymus and pancreas. Highly expressed in fetal tissue. Expressed in
• Sequence:

  MAQSTATSPDGGTTFEHLWSSLEPDSTYFDLPQSSRGNNEVVGGTDSSMDVFHLEGMTTS
  VMAQFNLLSSTMDQMSSRAASASPYTPEHAASVPTHSPYAQPSSTFDTMSPAPVIPSNTD
  YPGPHHFEVTFQQSSTAKSATWTYSPLLKKLYCQIAKTCPIQIKVSTPPPPGTAIRAMPV
  YKKAEHVTDVVKRCPNHELGRDFNEGQSAPASHLIRVEGNNLSQYVDDPVTGRQSVVVPY
  EPPQVGTEFTTILYNFMCNSSCVGGMNRRPILIIITLEMRDGQVLGRRSFEGRICACPGR
  DRKADEDHYREQQALNESSAKNGAASKRAFKQSPPAVPALGAGVKKRRHGDEDTYYLQVR
  GRENFEILMKLKESLELMELVPQPLVDSYRQQQQLLQRPSHLQPPSYGPVLSPMNKVHGG
  MNKLPSVNQLVGQPPPHSSAATPNLGPVGPGMLNNHGHAVPANGEMSSSHSAQSMVSGSH
  CTPPPPYHADPSLVSFLTGLGCPNCIEYFTSQGLQSIYHLQNLTIEDLGALKIPEQYRMT
  IWRGLQDLKQGHDYSTAQQLLRSSNAATISIGGSGELQRQRVMEAVHFRVRHTITIPNRG
  GPGGGPDEWADFGFDLPDCKARKQPIKEEFTEAEIH

• Sequence length: 636

Pathways

KEGG:

p53 signaling pathway
Hippo signaling pathway
Neurotrophin signaling pathway
Measles

Reactome:

Activation of PUMA and translocation to mitochondria
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
TP53 Regulates Transcription of Caspase Activators and Caspases
TP53 Regulates Transcription of Death Receptors and Ligands
Regulation of TP53 Activity through Association with Co-factors
RUNX1 regulates transcription of genes involved in differentiation of HSCs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	28212736
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	28212736
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Lung carcinoma	Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	26168399
Lung cancer	Malignant neoplasm of lung, Small cell lung cancer	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	28212736
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	28212736

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction		21211798	ClinVar
Lissencephaly	ciliary dyskinesia, primary, 47, and lissencephaly			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	10732753
Abnormal Karyotype	Associate	20671427
Acquired Immunodeficiency Syndrome	Associate	16135803
Adenocarcinoma	Associate	28134496
Adenocarcinoma of Lung	Associate	27878984
Adenoma Pleomorphic	Associate	23510689
Alzheimer Disease	Associate	14720173, 15175114
Ameloblastoma	Associate	28025428
Amyotrophic Lateral Sclerosis	Associate	35020242
Aneuploidy	Associate	33168930
Anorchia	Associate	22718761
Aphasia Primary Progressive	Associate	35020242
Astrocytoma	Associate	15367334, 19876867, 26309132, 34121368
Atherosclerosis	Associate	34103010
Barrett Esophagus	Associate	11720435
Brain Neoplasms	Associate	11461077, 19585505, 21717430, 23508638, 28239803
Breast Neoplasms	Associate	10648616, 17446929, 21214929, 22952705, 25134538, 26452468, 28071670, 31652459, 32092817, 35250881
Calcinosis Cutis	Associate	22871739, 25071017
Carcinogenesis	Associate	10408409, 10408709, 11115495, 12427762, 12584188, 15734740, 16980297, 18988287, 20676143, 21245298, 22751441, 23510689, 24404147, 25514460, 26182360, 27516190, 29474580, 31852961, 35625534, 36618305, 9288759
Carcinoma	Associate	16413463
Carcinoma Bronchogenic	Associate	16014176
Carcinoma Ductal	Associate	22925694
Carcinoma Hepatocellular	Associate	10408709, 20364114, 23065572, 24052075, 24377595, 25032846, 28350813, 28403886, 30942456, 31210297, 31429776, 31652459, 31852961
Carcinoma Merkel Cell	Associate	10732753
Carcinoma Non Small Cell Lung	Associate	21289519, 21841506, 21965272, 25556480, 28134496, 28415779, 32901838, 35871358
Carcinoma Ovarian Epithelial	Associate	40244040
Carcinoma Renal Cell	Associate	30016766, 31652459
Carcinoma Squamous Cell	Associate	16413471, 18988287, 27246533
Carcinoma Squamous Cell	Inhibit	28679648
Carcinoma Squamous Cell	Stimulate	31332036
Cholangiocarcinoma	Associate	10362118, 15467712, 20422343, 31652459
Chromosomal Instability	Associate	18556456, 33168930
Chromosome 1p36 Deletion Syndrome	Associate	24252393
Chromosome Aberrations	Associate	18422993
Cleft Lip	Stimulate	20364114
Colitis Ulcerative	Associate	30604274
Colonic Neoplasms	Associate	19106635, 26294215, 39300412
Colorectal Neoplasms	Associate	11675903, 20845513, 26294215, 29945573, 31537884, 31652459
Colorectal Neoplasms	Inhibit	27654017, 30700826
Death	Associate	17620410
Diabetes Mellitus Type 1	Inhibit	34681648
Diabetes Mellitus Type 2	Associate	33902539
Diffuse Neurofibrillary Tangles with Calcification	Associate	14720173
Down Syndrome	Associate	22751441
Drug Hypersensitivity	Associate	31736281
Drug Related Side Effects and Adverse Reactions	Associate	12726864, 15601819, 18422993, 19558638
Endometrial Neoplasms	Associate	16928264
Ependymoma	Associate	11461077
Epstein Barr Virus Infections	Associate	23829175
Esophageal Neoplasms	Associate	12841870, 24820515, 31474710
Esophageal Squamous Cell Carcinoma	Associate	11720435, 17761206, 24820515, 31474710, 31652459
Fanconi Anemia	Associate	16087177
Fever	Stimulate	26043026
Fibrosis	Associate	25152984
Frontotemporal Dementia	Associate	35020242
Gastroesophageal Reflux	Associate	12560466
Gastrointestinal Neoplasms	Associate	31852961
GATA2 Deficiency	Associate	11786399, 12823347
Gingivitis Necrotizing Ulcerative	Associate	10469295
Glioblastoma	Associate	19876867, 24709822, 26930720, 28168356, 30867410, 34115613, 34238116, 36674747
Glioma	Associate	17047653, 31652459, 33028341, 33589576, 34121368
Head and Neck Neoplasms	Associate	15572378, 19426493, 22170762
Helicobacter Infections	Associate	30212456
Hepatitis B	Associate	23065572
Inflammation	Associate	11720435, 21933882
Intervertebral Disc Degeneration	Associate	35039758
Ischemic Stroke	Associate	37081063
Klatskin Tumor	Associate	24934361
Leukemia	Associate	10419905, 12427762, 15015578, 15031205, 18556456, 18565851, 22412883, 22971533, 35787399
Leukemia Lymphocytic Chronic B Cell	Associate	11521806, 16741250, 19096009, 19541822, 19965642, 20882050, 21048031
Leukemia Lymphoma Adult T Cell	Associate	28978570
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	27832139, 34217296
Leukemia Myeloid Acute	Associate	10419905, 15849769, 16467208, 20671427, 20675383
Liver Diseases	Associate	24377595
Lung Neoplasms	Associate	10408409, 12901798, 15958617, 20528922, 25556480, 27878984, 31652459
Lymphatic Metastasis	Associate	23095717, 28134496, 28951630
Lymphatic Metastasis	Stimulate	31332036
Lymphoma	Inhibit	10419905
Lymphoma	Associate	11461077
Lymphoma B Cell	Associate	22971533
Lymphoma Follicular	Associate	24660851
Lymphoma Mantle Cell	Associate	27074052
Lymphoma Non Hodgkin	Associate	21811875, 26392358
Lymphoma T Cell	Associate	22971533
Lymphoma T Cell Cutaneous	Associate	35787399
Medulloblastoma	Associate	17626635
Melanoma	Associate	15526363, 21861192, 22871739, 25071017, 31462745
Meningioma	Associate	11461077, 34354552
Monoclonal Gammopathy of Undetermined Significance	Associate	15197802
Mouth Diseases	Associate	11720444
Mouth Neoplasms	Associate	18701437, 22052649, 29479029
Multiple Myeloma	Associate	15197802, 19018094, 26410378, 27533450, 29295500, 32714991
Myelodysplastic Syndromes	Associate	22971533, 23055192
N syndrome	Associate	29945573
Nasopharyngeal Carcinoma	Associate	33400379
Neoplasm Metastasis	Associate	22871739, 34007135
Neoplasm Metastasis	Stimulate	31332036
Neoplasms	Associate	10373484, 10469295, 10606650, 10761704, 10884390, 11115495, 11139314, 11231003, 11238060, 11238924, 11461077, 11641404, 11675903, 11720435, 11720444, 11839584, 11844800, 12560466, 12584188, 12716888, 12726864, 12823347, 12901798, 14602923, 15184504, 15292937, 15475940, 15919663, 15965232, 16234237, 16254107, 16413463, 16980297, 17227125, 18039564, 18579560, 19106635, 19197996, 19237629, 19399343, 19517019, 19855172, 19876867, 20081800, 20671427, 20675383, 21048031, 21146529, 21516125, 21852228, 21933882, 22000483, 22340593, 22457351, 22523600, 22871739, 22952705, 22974165, 23095717, 23236396, 23583620, 24213852, 24709822, 24748790, 25100434, 25539561, 26182360, 26309132, 27114492, 27516190, 27622714, 28071670, 28350813, 28403886, 28749206, 28951630, 28978570, 29271993, 29474580, 30106095, 30643007, 30867410, 31006665, 31210297, 31332036, 31652459, 31852961, 32991787, 33168930, 34007135, 34115613, 35327630, 35756491
Neoplasms	Inhibit	10408409, 10408709, 10419905, 10574463, 10732753, 11734204, 11748232, 11786399, 11804596, 12798071, 12841870, 14501508, 15175114, 15467712, 17047653, 17626635, 17977648, 18234963, 19451093, 19558638, 20665144, 21289519, 21459846, 21615690, 21873427, 22056305, 22412883, 22917970, 22962577, 23243311, 23362263, 23538419, 23717592, 23890537, 24252461, 24377595, 25143260, 25152984, 25591003, 26294215, 26490992, 27825141, 28236663, 30429221, 31562358, 31663517, 31910062, 34073849, 9288759, 9891077
Neoplasms	Stimulate	40244040
Neoplasms Cystic Mucinous and Serous	Associate	22089527
Neoplasms Second Primary	Associate	19585505, 21717430, 23508638
Neoplasms Squamous Cell	Associate	11720444, 11870517, 12726864
Nerve Degeneration	Associate	18719392
Neurilemmoma	Associate	22000483
Neuroblastoma	Inhibit	10408409
Neuroblastoma	Associate	10408709, 10732753, 10935473, 12192602, 18583365, 9288759
Neurodegenerative Diseases	Associate	34115613
Neurofibrosarcoma	Associate	15255999
Neuroma Acoustic	Associate	22000483
Nonsyndromic Deafness	Associate	11839584
Obesity	Associate	28415779, 33902539
Odontogenic Cysts	Associate	28025428
Odontogenic Tumors	Associate	28025428
Oligodendroglioma	Associate	11461077
Oncogene Addiction	Stimulate	11115495
Oropharyngeal Neoplasms	Associate	19197996, 22523600
Osteosarcoma	Associate	19779497, 9802988
Ovarian Neoplasms	Associate	10606650, 11238060, 12928725, 18039564, 18566213, 21516125, 21917857, 23095717, 31652459, 35867729, 40244040
Pancreatic Neoplasms	Associate	14511408, 19237629, 21212431, 21681824, 24534469, 30643007, 31652459, 34007135
Parotid Neoplasms	Associate	25539561
Personality Disorders	Associate	30867410
Philadelphia Chromosome	Associate	12586619
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	18422993
Primary Progressive Nonfluent Aphasia	Associate	35020242
Prostatitis	Associate	11943705, 23386643, 23890537
Pulmonary Disease Chronic Obstructive	Associate	29506519
Retinoblastoma	Inhibit	12584188
Retinoblastoma	Associate	22278416, 31015368
Rhabdomyosarcoma	Associate	21245298
Sarcoma	Associate	22389451
Sinonasal undifferentiated carcinoma	Associate	27516190
Smoke Inhalation Injury	Associate	28415779
Squamous Cell Carcinoma of Head and Neck	Associate	16413463, 16413471, 19197996, 19426493, 19585505, 19597475, 20665144, 20729916, 21717430, 23508638, 25374236, 33227411, 35327630, 35756491
Stomach Neoplasms	Associate	12560466, 25875960, 25954972, 30106095, 30212456, 31549851, 31652459, 35073920
Thymic epithelial tumor	Associate	22974165
Thymoma	Associate	22974165, 28258440
Thyroid Neoplasms	Associate	18234963, 31006665, 36618305
Urinary Bladder Neoplasms	Associate	24213852, 31318640, 31652459
Uterine Cervical Dysplasia	Associate	11870517
Uterine Cervical Neoplasms	Associate	17504382, 17971771, 20644729, 30963795, 31332036, 31663517, 35896897
Uterine Cervical Neoplasms	Stimulate	34380847
Waldenstrom Macroglobulinemia	Associate	25803193
Warburg Sjo Fledelius syndrome	Associate	27807512
Wilms Tumor	Associate	28930610