HOXB13 (homeobox B13)

Gene

• Entrez ID: 10481
• Gene name: Homeobox B13
• Gene symbol: HOXB13
• Synonyms (NCBI Gene): HPC9, PSGD
• Chromosome: 17
• Chromosome location: 17q21.32
• Summary: This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77179853	A>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Frameshift variant, stop lost, terminator codon variant
rs138213197	C>T	Pathogenic, pathogenic-likely-pathogenic, risk-factor, likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019730	hsa-miR-375	Microarray	20215506
MIRT490314	hsa-miR-1321	PAR-CLIP	23592263
MIRT490312	hsa-miR-4739	PAR-CLIP	23592263
MIRT490311	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT490310	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT490309	hsa-miR-4671-5p	PAR-CLIP	23592263
MIRT490308	hsa-miR-4285	PAR-CLIP	23592263
MIRT490307	hsa-miR-4419a	PAR-CLIP	23592263
MIRT490306	hsa-miR-4510	PAR-CLIP	23592263
MIRT490305	hsa-miR-6127	PAR-CLIP	23592263
MIRT490304	hsa-miR-6129	PAR-CLIP	23592263
MIRT490303	hsa-miR-6130	PAR-CLIP	23592263
MIRT490302	hsa-miR-6133	PAR-CLIP	23592263
MIRT490301	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490300	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490299	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490298	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490297	hsa-miR-193b-5p	PAR-CLIP	23592263
MIRT490296	hsa-miR-629-5p	PAR-CLIP	23592263
MIRT490295	hsa-miR-299-5p	PAR-CLIP	23592263
MIRT490314	hsa-miR-1321	PAR-CLIP	23592263
MIRT490312	hsa-miR-4739	PAR-CLIP	23592263
MIRT490311	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT490310	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT490309	hsa-miR-4671-5p	PAR-CLIP	23592263
MIRT490308	hsa-miR-4285	PAR-CLIP	23592263
MIRT490307	hsa-miR-4419a	PAR-CLIP	23592263
MIRT490306	hsa-miR-4510	PAR-CLIP	23592263
MIRT490305	hsa-miR-6127	PAR-CLIP	23592263
MIRT490304	hsa-miR-6129	PAR-CLIP	23592263
MIRT490303	hsa-miR-6130	PAR-CLIP	23592263
MIRT490302	hsa-miR-6133	PAR-CLIP	23592263
MIRT490301	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490300	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490299	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490298	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490297	hsa-miR-193b-5p	PAR-CLIP	23592263
MIRT490296	hsa-miR-629-5p	PAR-CLIP	23592263
MIRT490295	hsa-miR-299-5p	PAR-CLIP	23592263
MIRT1053286	hsa-miR-105	CLIP-seq
MIRT1053287	hsa-miR-1197	CLIP-seq
MIRT1053288	hsa-miR-1207-5p	CLIP-seq
MIRT1053289	hsa-miR-1343	CLIP-seq
MIRT1053290	hsa-miR-214	CLIP-seq
MIRT1053291	hsa-miR-2355-5p	CLIP-seq
MIRT1053292	hsa-miR-3065-5p	CLIP-seq
MIRT1053293	hsa-miR-3189-3p	CLIP-seq
MIRT1053294	hsa-miR-328	CLIP-seq
MIRT1053295	hsa-miR-3619-5p	CLIP-seq
MIRT1053296	hsa-miR-3663-5p	CLIP-seq
MIRT1053297	hsa-miR-4286	CLIP-seq
MIRT1053298	hsa-miR-4291	CLIP-seq
MIRT1053299	hsa-miR-4436a	CLIP-seq
MIRT1053300	hsa-miR-4733-5p	CLIP-seq
MIRT1053301	hsa-miR-4736	CLIP-seq
MIRT1053302	hsa-miR-4763-3p	CLIP-seq
MIRT1053303	hsa-miR-495	CLIP-seq
MIRT1053304	hsa-miR-657	CLIP-seq
MIRT1053305	hsa-miR-761	CLIP-seq
MIRT1053306	hsa-miR-922	CLIP-seq
MIRT1549630	hsa-miR-4691-5p	CLIP-seq
MIRT1549630	hsa-miR-4691-5p	CLIP-seq
MIRT2012135	hsa-miR-1915	CLIP-seq
MIRT2012136	hsa-miR-3120-5p	CLIP-seq
MIRT2012137	hsa-miR-3150b-3p	CLIP-seq
MIRT2012138	hsa-miR-3667-3p	CLIP-seq
MIRT2012139	hsa-miR-4646-5p	CLIP-seq
MIRT1549630	hsa-miR-4691-5p	CLIP-seq
MIRT2012140	hsa-miR-4726-3p	CLIP-seq
MIRT2012141	hsa-miR-4768-3p	CLIP-seq
MIRT2012142	hsa-miR-4784	CLIP-seq
MIRT2012143	hsa-miR-483-3p	CLIP-seq
MIRT2012144	hsa-miR-665	CLIP-seq
MIRT1053286	hsa-miR-105	CLIP-seq
MIRT2244376	hsa-miR-1207-3p	CLIP-seq
MIRT2244377	hsa-miR-1910	CLIP-seq
MIRT1053292	hsa-miR-3065-5p	CLIP-seq
MIRT2244378	hsa-miR-3661	CLIP-seq
MIRT2244379	hsa-miR-377	CLIP-seq
MIRT2244380	hsa-miR-4251	CLIP-seq
MIRT2244381	hsa-miR-4264	CLIP-seq
MIRT2244382	hsa-miR-4268	CLIP-seq
MIRT1053297	hsa-miR-4286	CLIP-seq
MIRT2244383	hsa-miR-4313	CLIP-seq
MIRT2244384	hsa-miR-4446-5p	CLIP-seq
MIRT2244385	hsa-miR-455-3p	CLIP-seq
MIRT1549630	hsa-miR-4691-5p	CLIP-seq
MIRT2244386	hsa-miR-4755-5p	CLIP-seq
MIRT1053303	hsa-miR-495	CLIP-seq
MIRT2244387	hsa-miR-5096	CLIP-seq
MIRT2244388	hsa-miR-539	CLIP-seq
MIRT2244389	hsa-miR-579	CLIP-seq
MIRT2244390	hsa-miR-631	CLIP-seq
MIRT2244391	hsa-miR-642a	CLIP-seq
MIRT2244392	hsa-miR-661	CLIP-seq
MIRT2244393	hsa-miR-767-5p	CLIP-seq
MIRT2244394	hsa-miR-9	CLIP-seq
MIRT2389122	hsa-miR-137	CLIP-seq
MIRT2389123	hsa-miR-1468	CLIP-seq
MIRT2389124	hsa-miR-1827	CLIP-seq
MIRT2389125	hsa-miR-3064-3p	CLIP-seq
MIRT2389126	hsa-miR-4252	CLIP-seq
MIRT1549630	hsa-miR-4691-5p	CLIP-seq
MIRT2389127	hsa-miR-4715-3p	CLIP-seq
MIRT2389128	hsa-miR-574-5p	CLIP-seq
MIRT2389129	hsa-miR-759	CLIP-seq
MIRT2451331	hsa-miR-122	CLIP-seq
MIRT2451332	hsa-miR-1292	CLIP-seq
MIRT2451333	hsa-miR-3122	CLIP-seq
MIRT2451334	hsa-miR-3165	CLIP-seq
MIRT2451335	hsa-miR-3913-5p	CLIP-seq
MIRT2451336	hsa-miR-4456	CLIP-seq
MIRT2451337	hsa-miR-4471	CLIP-seq
MIRT2244394	hsa-miR-9	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	22808286
HDAC4	Repression	19013255
YY1	Repression	19013255

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15126340
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15126340
GO:0001525	Process	Angiogenesis	IEP	17972163
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008327	Function	Methyl-CpG binding	IDA	28473536
GO:0008544	Process	Epidermis development	TAS	9665387
GO:0009611	Process	Response to wounding	TAS	9665387
GO:0030850	Process	Prostate gland development	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	23332764
GO:0060527	Process	Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	IEA
GO:0060743	Process	Epithelial cell maturation involved in prostate gland development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604607
• HGNC: 5112
• e!Ensembl: ENSG00000159184

Protein

• UniProt ID: Q92826
• Protein name: Homeobox protein Hox-B13
• Protein function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA (PubMed:28473536). {ECO:0000
• PDB: 2CRA, 5EDN, 5EEA, 5EF6, 5EG0, 5EGO, 5NO6, 7PSX, 8BYX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12284	HoxA13_N	12 → 123	Hox protein A13 N terminal	Family
  PF00046	Homeodomain	217 → 273	Homeodomain	Domain

• Sequence:

  MEPGNYATLDGAKDIEGLLGAGGGRNLVAHSPLTSHPAAPTLMPAVNYAPLDLPGSAEPP
  KQCHPCPGVPQGTSPAPVPYGYFGGGYYSCRVSRSSLKPCAQAATLAAYPAETPTAGEEY
  PSRPTEFAFYPGYPGTYQPMASYLDVSVVQTLGAPGEPRHDSLLPVDSYQSWALAGGWNS
  QMCCQGEQNPPGPFWKAAFADSSGQHPPDACAFRRGRKKRIPYSKGQLRELEREYAANKF
  ITKDKRRKISAATSLSERQITIWFQNRRVKEKKVLAKVKNSATP

• Sequence length: 284

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs138213197	RCV003492500
Carcinoma of pancreas	Likely pathogenic; Pathogenic	rs138213197	RCV001391199
Familial prostate cancer	Likely pathogenic; Pathogenic	rs138213197	RCV001582580
Gastric cancer	Pathogenic	rs2509512772	RCV003164703
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs138213197	RCV000561749
HOXB13-Related Cancer Predisposition	Likely pathogenic; Pathogenic	rs138213197	RCV003335105
HOXB13-related disorder	Likely pathogenic; Pathogenic	rs138213197	RCV004549575
Prostate cancer susceptibility	Likely pathogenic; Pathogenic	rs138213197	RCV000210093
Prostate cancer, hereditary, 9	Likely pathogenic; Pathogenic	rs138213197	RCV000714291

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Prostate cancer	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs1597933664, rs752322954, rs375857762	RCV005361569 RCV005369878 RCV005361682
Prostate cancer, hereditary, 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1597932009, rs1597932022, rs1597932026, rs1597932037, rs1597932040, rs1597932044, rs1597932046, rs1597932049, rs900423192, rs1597932057, rs1597932061, rs1597932064, rs1597932068, rs1597932075, rs1597932081, rs925368689, rs1597932088, rs1597932093, rs1597932098, rs1597932101, rs1597932103, rs1597932102, rs1597932106, rs1597932111, rs1597932115, rs1597932120, rs1597932127, rs1597932135, rs1597932140, rs1597932149, rs1597932155, rs1597932167, rs1597932173, rs1597932175, rs1597932178, rs1597932192, rs1597932197, rs1597932206, rs1597932209, rs1597932213, rs1597932216, rs1597932221, rs1597932254, rs1597932271, rs1597932273, rs1333372673, rs1597932286, rs1597932295, rs1597932299, rs1597932306, rs1597932309, rs1597932317, rs776879752, rs1597932346, rs1285912914, rs1597932380, rs1597932381, rs1597932390, rs752722523, rs1597932400, rs1597932404, rs1597932409, rs1597932416, rs1597932428, rs1597932429, rs1597932430, rs1597932441, rs1597932443, rs1597932452, rs1597932456, rs1597932461, rs1597932465, rs1597932468, rs1597932467, rs1597932473, rs1289659465, rs1597932479, rs1597932489, rs1597932495, rs1403127755, rs1597932507, rs1597932515, rs1597932521, rs1597932525, rs1291038862, rs1597932533, rs1597932539, rs1597932545, rs1207429780, rs1597932567, rs1597932564, rs771352907, rs1597932585, rs1597932591, rs1597932595, rs770443137, rs917899187, rs1555558453, rs1597932610, rs1597932616, rs1597932620, rs1597932635, rs1597932626, rs1597932629, rs1597932641, rs1597932656, rs775731553, rs1597932666, rs762991673, rs1597932670, rs764201750, rs751610575, rs761824576, rs1597932688, rs1597932691, rs1597932694, rs1243575757, rs1597932706, rs767502912, rs1597932718, rs1597932727, rs1597932729, rs1597932732, rs1597932737, rs1597932741, rs1597932743, rs1254153147, rs1597932755, rs1597932759, rs1597932763, rs1597932766, rs1597932772, rs1597932775, rs1597932777, rs555201890, rs754487444, rs1597932784, rs1597932786, rs1597932789, rs1597932794, rs1597932805, rs1597932804, rs1597932808, rs1302905544, rs1597932836, rs1597932847, rs1365586165, rs1597932860, rs1597932866, rs1597932876, rs1597932885, rs1597932892, rs1597932893, rs1597932897, rs1597932894, rs1597932901, rs749518336, rs1597932913, rs375917549, rs1597932928, rs1466480316, rs1597932942, rs1187061907, rs1597932949, rs145059285, rs1597932968, rs1597932970, rs1175181412, rs1597932982, rs1597932987, rs1597932994, rs1597932995, rs1597933009, rs1597933012, rs1597933018, rs766169510, rs761530565, rs1597933031, rs1387241173, rs1597933040, rs1597933057, rs1343659361, rs1597933066, rs1597933069, rs1597933068, rs1597933678, rs1597933681, rs1597933685, rs1440293968, rs750945370, rs1597933698, rs1597933702, rs1597933703, rs1597933709, rs1597933706, rs1597933713, rs756654236, rs1597933725, rs1597933728, rs1597933731, rs1597933740, rs1597933747, rs1597933751, rs1597933754, rs1597933756, rs780355420, rs1597933762, rs1597933767, rs1274753809, rs1597933773, rs754258114, rs1399523986, rs143945091, rs1597933784, rs1597933787, rs1597933795, rs1597933803, rs1597933806, rs1597933809, rs1597933819, rs1597933822, rs1597933824, rs1597933831, rs1597933837, rs1597933843, rs1597933846, rs1597933851, rs748353425, rs1597933862, rs1597933867, rs570681642, rs1597933874, rs1597933876, rs1597933880, rs1597933885, rs1597933886, rs1597933890, rs1597933897, rs1597933899, rs1597933910, rs1597933914, rs1597933919, rs1597933923, rs1597933929, rs1597933934, rs1597933947, rs1335165337, rs1597933959, rs1597933968, rs1597933974, rs1597933977, rs1436475959, rs1597933997, rs775189167, rs1597934000, rs1597934003, rs1597934010, rs1597934013, rs1597934017, rs555788633, rs199561305, rs1597934044, rs751081605, rs1597934070, rs1597934077, rs1597934083, rs1597934090, rs1241042961, rs1460756423, rs1597934100, rs1597934105, rs1597934111, rs902238751, rs1597934126, rs1597934133, rs1597934142, rs1597934146, rs1597934154, rs1597934156, rs1597934161, rs755437330, rs1597934171, rs1555558604, rs1597934184, rs1597934182, rs1597934193, rs1597934202, rs1597934205, rs1597934211, rs1597934208, rs1597934215, rs1597934220, rs1597934223, rs1597934229, rs1597934233, rs1597934239, rs556045007, rs1597934242, rs1597934253, rs1597934256, rs1597934271, rs1597934273, rs1597934290, rs1597934292, rs1597934297, rs1445231138, rs1597934308, rs1597934310, rs1597934313, rs1597934319, rs1597934321, rs201428095, rs1597934329, rs1010890339, rs1597934347, rs766909225, rs1597934365, rs1597934381, rs1597934421, rs1597934438, rs1597934448, rs1597934458, rs1597934462, rs1597934464, rs1597934467, rs745889927, rs1597934502, rs1597934520, rs1597934544, rs1597934558, rs1597934560, rs1597934565, rs1597934567, rs1597934574, rs757433384, rs1237713613, rs750529308, rs1597934583, rs1597934593, rs1597934594, rs749195398, rs1597934607, rs1597934617, rs1597934612, rs1597934622, rs1597934628, rs1197613952, rs1597934631, rs1597934636, rs1597934637, rs1597934646, rs1597934654, rs1597934651, rs1597934667, rs1597934671, rs1597934674, rs1597934677, rs1597934684, rs1597934688, rs1597934690, rs772962401, rs1597934698, rs1597934706, rs1597934711, rs924383022, rs746542615, rs1597934719, rs1597934723, rs1597934728, rs1597934733, rs1597934737, rs1390422355, rs1597934741, rs1597934744, rs1597934752, rs1597934751, rs1597934748, rs776203446, rs763353615, rs1597934760, rs1597934763, rs1597934769, rs774579054, rs1597934778, rs768670673, rs1597934795, rs1597934796, rs1597934803, rs1597934816, rs1597934812, rs1597934819, rs1597934825, rs1597934827, rs1597934828, rs1597934831, rs1597934833, rs1194735492, rs1597934839, rs199813155, rs758166293, rs1597934852, rs1597934854, rs1597934856, rs1597934862, rs1597934873, rs1597934877, rs1597934879, rs1597934885, rs770620686, rs1597934894, rs1597934896, rs1597934900, rs1597934906, rs1597934913, rs1597934910, rs1597934915, rs1597934916, rs780859632, rs1597934922, rs1597934926, rs745306184, rs1597934932, rs1325861190, rs1597934937, rs1597934938, rs1597934944, rs1597934943, rs1597934949, rs1484636342, rs1597934966, rs1597934963, rs1597934972, rs769074510, rs1597934983, rs1265294177, rs1597934987, rs1597934991, rs1597934989, rs1597934995, rs1597935002, rs1597935007, rs1597935010, rs1597935011, rs1597935013, rs1597935020, rs1597935024, rs11551892, rs774872614, rs1597935028, rs1597935033, rs1597935034, rs1597935038, rs1185233318, rs1597935042, rs866159706, rs1597935046, rs1597935048, rs1597935049, rs1597935052, rs199799743, rs1597935060, rs1597935065, rs1597935062, rs773491778, rs587780160, rs1597935083, rs1597935087, rs1597935091, rs1597935093, rs1597935095, rs1597935100, rs1175466694, rs1597935105, rs1597935108, rs1597935112, rs1418039435, rs1597935122, rs79344505, rs1597935131, rs1597935135, rs1597935143, rs1597935153, rs1597935158, rs1223082509, rs1597935163, rs756970136, rs1597935169, rs1597935171, rs1597935175, rs1319038051, rs1597935186, rs1597935187, rs1597935191, rs1597935195, rs1597935204, rs780947625, rs1597935212, rs745392080, rs1597935217, rs769323553, rs1597935219, rs1597935233, rs772484566, rs1597935236, rs1597935235, rs1597935240, rs1597935244, rs1597935251, rs1027470378, rs1597935256, rs1597935255, rs1597935259, rs1597935257, rs1597935268, rs1597935271, rs1597935279, rs1597935280, rs1597935282, rs1597935289, rs1597935290, rs1555558715, rs1597935299, rs1597935301, rs1597935303, rs1597935307, rs1597935311, rs1597935325, rs1597935328, rs1597935334, rs1597935337, rs1597935342, rs1597935352, rs1597935358, rs1597935362, rs1597935367, rs1337454597, rs771173385, rs1597935376, rs1597935379, rs1597935385, rs1404578364, rs1597935405, rs1597935406, rs1597935413, rs1597935416, rs546307661, rs1597935423, rs1597935440, rs1597935447, rs1597935455, rs1597935461, rs1597935464, rs1567701739, rs1597935469, rs375857762, rs762994956, rs1597935482, rs1597935484, rs1597935488, rs1362939023, rs1356729486, rs1597935500, rs1597935505, rs1597935507, rs1597935513, rs1597935516, rs1597935518, rs1597935521, rs1597935524, rs1597935528, rs1597935535, rs1597935537, rs1298255334, rs1597935558, rs1597935562, rs1165325120, rs1597935570, rs1597935576, rs1597935588, rs61748976, rs1597935596, rs1597935598, rs1597935602, rs1440227956, rs1597935622, rs1597935621, rs755645189, rs1597935628, rs1597935641, rs1597935640, rs1597935644, rs1597935647, rs1597935650, rs1597935652, rs1597935656, rs1597935666, rs1597935668, rs1597935678, rs1597935680, rs1597935686, rs1597935689, rs1597935697, rs1597935698, rs1597935702, rs1597935705, rs1597935712, rs1597935707, rs1597935718, rs200066609, rs535584715, rs1597935727, rs1597935730, rs1597935740, rs1597935749, rs924383562, rs1597933077, rs1597933106, rs1597933108, rs774673264, rs1597933116, rs1597933120, rs1597933123, rs1597933131, rs1597933134, rs1597933137, rs1597933159, rs1597933160, rs1597933162, rs1597933163, rs1597933169, rs1597933172, rs746927039, rs1597933182, rs556583174, rs1597933185, rs1597933186, rs1597933188, rs1597933195, rs1597933200, rs1597933203, rs1597933206, rs1597933213, rs1024986667, rs1597933215, rs1597933217, rs1597933220, rs1597933225, rs1597933229, rs1597933230, rs1280633931, rs1597933239, rs1597933246, rs1597933244, rs1597933251, rs1597933248, rs1597933255, rs1597933258, rs1597933260, rs1597933261, rs1597933263, rs1597933269, rs1597933266, rs1597933270, rs1597933579, rs1597933581, rs1597933582, rs1597933590, rs1597933598, rs1597933599, rs1597933603, rs1597933604, rs143547955, rs1597933608, rs1597933612, rs1222228340, rs1597933627, rs1597933634, rs1597933636, rs1597933639, rs1597933640, rs1597933649, rs759189142, rs1597933655, rs1597933657, rs1597933663, rs1597933664, rs1597933666	RCV000856336 RCV000856334 RCV000856333 RCV000856332 RCV000856331 RCV000856330 RCV000856328 RCV000856329 RCV000856327 RCV000856326 RCV000856325 RCV000856324 RCV000856533 RCV000856323 RCV000856322 RCV000856321 RCV000856319 RCV000856320 RCV000856318 RCV000856317 RCV000856532 RCV000856316 RCV000856315 RCV000856314 RCV000856311 RCV000856313 RCV000856312 RCV000856310 RCV000856309 RCV000856308 RCV000856307 RCV000856306 RCV000856305 RCV000856304 RCV000856303 RCV000856302 RCV000856301 RCV000856300 RCV000856298 RCV000856297 RCV000856296 RCV000856357 RCV000856356 RCV000856355 RCV000856354 RCV000856534 RCV000856353 RCV000856352 RCV000856351 RCV000856350 RCV000856349 RCV000856348 RCV000856347 RCV000856346 RCV000856345 RCV000856344 RCV000856343 RCV000856342 RCV000856341 RCV000856340 RCV000856337 RCV000856335 RCV000856299 RCV000856339 RCV000856338 RCV000856551 RCV000856530 RCV000856529 RCV000856528 RCV000856527 RCV000856550 RCV000856526 RCV000856549 RCV000856525 RCV000856524 RCV000856548 RCV000856547 RCV000856523 RCV000856522 RCV000856521 RCV000856520 RCV000856519 RCV000856518 RCV000856516 RCV000856546 RCV000856517 RCV000856545 RCV000856515 RCV000856544 RCV000856512 RCV000856513 RCV000856514 RCV000856511 RCV000856510 RCV000856509 RCV000856507 RCV000856508 RCV000856506 RCV000856505 RCV000856504 RCV000856543 RCV000856503 RCV000856502 RCV000856501 RCV000856500 RCV000856499 RCV000856498 RCV000856497 RCV000856542 RCV000856496 RCV000856495 RCV000856494 RCV000856493 RCV000856491 RCV000856490 RCV000856492 RCV000856487 RCV000856489 RCV000856488 RCV000856486 RCV000856485 RCV000856484 RCV000856483 RCV000856482 RCV000856481 RCV000856480 RCV000856479 RCV000856478 RCV000856477 RCV000856475 RCV000856476 RCV000856474 RCV000856471 RCV000856473 RCV000856541 RCV000856472 RCV000856470 RCV000856469 RCV000856468 RCV000856467 RCV000856466 RCV000856465 RCV000856464 RCV000856463 RCV000856462 RCV000856461 RCV000856460 RCV000856459 RCV000856458 RCV000856457 RCV000856456 RCV000856540 RCV000856455 RCV000856453 RCV000856454 RCV000856452 RCV000856451 RCV000856450 RCV000856539 RCV000856449 RCV000856448 RCV000856447 RCV000856446 RCV000856445 RCV000856444 RCV000856443 RCV000856442 RCV000856440 RCV000856441 RCV000856439 RCV000856438 RCV000856437 RCV000856436 RCV000856435 RCV000856434 RCV000856433 RCV000856432 RCV000856431 RCV000856430 RCV000856429 RCV000856428 RCV000856427 RCV000856426 RCV000856425 RCV000856424 RCV000856422 RCV000856423 RCV000856421 RCV000856420 RCV000856419 RCV000856417 RCV000856418 RCV000856416 RCV000856415 RCV000856414 RCV000856413 RCV000856412 RCV000856411 RCV000856410 RCV000856409 RCV000856408 RCV000856407 RCV000856235 RCV000856234 RCV000856207 RCV000856199 RCV000856198 RCV000856197 RCV000856194 RCV000855819 RCV000856196 RCV000856195 RCV000856193 RCV000856190 RCV000856189 RCV000856188 RCV000856187 RCV000856186 RCV000856185 RCV000856184 RCV000856183 RCV000856182 RCV000856181 RCV000856179 RCV000856180 RCV000856178 RCV000856175 RCV000855818 RCV000856174 RCV000855817 RCV000856173 RCV000856172 RCV000856169 RCV000856168 RCV000856166 RCV000856167 RCV000856165 RCV000856161 RCV000856160 RCV000856159 RCV000856158 RCV000856157 RCV000856156 RCV000856155 RCV000856154 RCV000856151 RCV000856150 RCV000856149 RCV000856148 RCV000856147 RCV000856146 RCV000856145 RCV000856144 RCV000856143 RCV000856140 RCV000856139 RCV000856138 RCV000856137 RCV000856136 RCV000856135 RCV000856134 RCV000856133 RCV000856132 RCV000856131 RCV000856130 RCV000856127 RCV000856126 RCV000856125 RCV000856124 RCV000856123 RCV000856122 RCV000856120 RCV000856118 RCV000856119 RCV000856117 RCV000855814 RCV000856116 RCV000856115 RCV000856110 RCV000856109 RCV000856108 RCV000856107 RCV000856106 RCV000856105 RCV000856104 RCV000856103 RCV000856102 RCV000856099 RCV000856098 RCV000856097 RCV000856096 RCV000856095 RCV000856094 RCV000856093 RCV000856091 RCV000856092 RCV000856090 RCV000856089 RCV000856088 RCV000856087 RCV000856086 RCV000856085 RCV000856084 RCV000856295 RCV000856083 RCV000856082 RCV000856081 RCV000856078 RCV000856077 RCV000856076 RCV000856075 RCV000856073 RCV000856074 RCV000856069 RCV000856068 RCV000856067 RCV000856066 RCV000856065 RCV000856063 RCV000856062 RCV000856061 RCV000856060 RCV000856059 RCV000856058 RCV000856057 RCV000856056 RCV000856054 RCV000856053 RCV000856049 RCV000856048 RCV000856294 RCV000856046 RCV000856042 RCV000856041 RCV000856293 RCV000856040 RCV000856038 RCV000856037 RCV000856036 RCV000856033 RCV000856032 RCV000856031 RCV000856030 RCV000856029 RCV000856026 RCV000856025 RCV000856021 RCV000856019 RCV000856020 RCV000856018 RCV000856016 RCV000856017 RCV000856015 RCV000856014 RCV000856013 RCV000856012 RCV000856009 RCV000856008 RCV000856005 RCV000856004 RCV000856003 RCV000856000 RCV000855999 RCV000855998 RCV000855997 RCV000855996 RCV000855995 RCV000855993 RCV000855994 RCV000855992 RCV000855989 RCV000855988 RCV000855809 RCV000855984 RCV000855983 RCV000855982 RCV000855981 RCV000855980 RCV000855979 RCV000855808 RCV000855978 RCV000855977 RCV000855976 RCV000855975 RCV000855974 RCV000855973 RCV000855970 RCV000855969 RCV000855968 RCV000855807 RCV000855967 RCV000855966 RCV000855965 RCV000855963 RCV000855962 RCV000855961 RCV000855960 RCV000855958 RCV000855959 RCV000855957 RCV000855805 RCV000855956 RCV000855941 RCV000855954 RCV000855953 RCV000855952 RCV000855951 RCV000855950 RCV000855949 RCV000855948 RCV000855946 RCV000855945 RCV000855947 RCV000855942 RCV000855940 RCV000855939 RCV000855937 RCV000855938 RCV000855936 RCV000855804 RCV000855803 RCV000855935 RCV000855802 RCV000855932 RCV000855931 RCV000855930 RCV000855929 RCV000855927 RCV000855928 RCV000855926 RCV000855921 RCV000855919 RCV000855920 RCV000855918 RCV000855917 RCV000855916 RCV000855801 RCV000855914 RCV000855913 RCV000855912 RCV000855911 RCV000855910 RCV000855909 RCV000855908 RCV000855907 RCV000855905 RCV000855904 RCV000855903 RCV000855902 RCV000855900 RCV000855901 RCV000855898 RCV000855800 RCV000855899 RCV000855896 RCV000855897 RCV000855895 RCV000855894 RCV000855893 RCV000855890 RCV000855892 RCV000855891 RCV000855889 RCV000855888 RCV000855887 RCV000855886 RCV000855885 RCV000855884 RCV000855882 RCV000855883 RCV000855881 RCV000855880 RCV000855879 RCV000855878 RCV000855877 RCV000855876 RCV000855875 RCV000855799 RCV000855870 RCV000855871 RCV000855869 RCV000855868 RCV000855798 RCV000855867 RCV000855866 RCV000855865 RCV000855864 RCV000855863 RCV000855862 RCV000855861 RCV000855857 RCV000855856 RCV000855855 RCV000855854 RCV000855853 RCV000855797 RCV000855852 RCV000855849 RCV000855848 RCV000855796 RCV000855847 RCV000855795 RCV000855846 RCV000855845 RCV000855844 RCV000855794 RCV000855842 RCV000855843 RCV000855841 RCV000855839 RCV000855838 RCV000855836 RCV000855837 RCV000855835 RCV000855793 RCV000855834 RCV000855833 RCV000855832 RCV000855830 RCV000855792 RCV000855829 RCV000855828 RCV000855791 RCV000855826 RCV000855827 RCV000855825 RCV000855790 RCV000855824 RCV000856289 RCV000856288 RCV000856286 RCV000856285 RCV000856284 RCV000856280 RCV000856281 RCV000856279 RCV000856272 RCV000856278 RCV000855822 RCV000856275 RCV000855821 RCV000856274 RCV000856267 RCV000855820 RCV000856266 RCV000856265 RCV000856263 RCV000856261 RCV000856257 RCV000856253 RCV000856251 RCV000856247 RCV000856248 RCV000856245 RCV000856244 RCV000856241 RCV000856240 RCV000856239 RCV000856206 RCV000856236 RCV000856200 RCV000856191 RCV000856177 RCV000856170 RCV000856171 RCV000856163 RCV000856162 RCV000855815 RCV000856141 RCV000856111 RCV000855813 RCV000856080 RCV000856079 RCV000856051 RCV000856050 RCV000855811 RCV000856047 RCV000856043 RCV000856039 RCV000856034 RCV000856024 RCV000856028 RCV000856027 RCV000856011 RCV000856002 RCV000856001 RCV000855991 RCV000855990 RCV000855987 RCV000855986 RCV000855972 RCV000855943 RCV000855933 RCV000855923 RCV000855922 RCV000855915 RCV000855906 RCV000855873 RCV000855872 RCV000855851 RCV000855858 RCV000855850 RCV000855831 RCV000855823 RCV000856282 RCV000856291 RCV000856269 RCV000856205 RCV000856202 RCV000856201 RCV000856113 RCV000855925 RCV000856007 RCV000856006 RCV000856112 RCV000856203 RCV000856204 RCV000856256 RCV000856268 RCV000856270 RCV000856271 RCV000856292 RCV000855840 RCV000855859 RCV000855860 RCV000855874 RCV000855924 RCV000855934 RCV000855944 RCV000855955 RCV000855806 RCV000855964 RCV000855971 RCV000855985 RCV000855810 RCV000856010 RCV000856022 RCV000856023 RCV000856035 RCV000856045 RCV000856044 RCV000856052 RCV000856055 RCV000856064 RCV000856072 RCV000856071 RCV000856070 RCV000855812 RCV000856101 RCV000856100 RCV000856114 RCV000856121 RCV000856129 RCV000856128 RCV000856142 RCV000856152 RCV000856153 RCV000855816 RCV000856164 RCV000856176 RCV000856192 RCV000856237 RCV000856238 RCV000856242 RCV000856243 RCV000856246 RCV000856249 RCV000856250 RCV000856255 RCV000856254 RCV000856252 RCV000856258 RCV000856259 RCV000856260 RCV000856262 RCV000856264 RCV000856273 RCV000856276 RCV000856277 RCV000856283 RCV000856287 RCV000856290 RCV000856373 RCV000856368 RCV000856369 RCV000856370 RCV000856371 RCV000856372 RCV000856375 RCV000856374 RCV000856376 RCV000856377 RCV000856378 RCV000856380 RCV000856379 RCV000856381 RCV000856383 RCV000856382 RCV000856385 RCV000856384 RCV000856386 RCV000856387 RCV000856388 RCV000856389 RCV000856390 RCV000856391 RCV000856392 RCV000856393 RCV000856395 RCV000856394 RCV000856396 RCV000856538 RCV000856397 RCV000856398 RCV000856399 RCV000856400 RCV000856401 RCV000856402 RCV000856403 RCV000856404 RCV000856405 RCV000856406 RCV000856358 RCV000856535 RCV000856359 RCV000856360 RCV000856536 RCV000856361 RCV000856362 RCV000856537 RCV000856364 RCV000856363 RCV000856365 RCV000856366 RCV000856367 RCV000856233 RCV000856232 RCV000856231 RCV000856230 RCV000856229 RCV000856228 RCV000856227 RCV000856226 RCV000856224 RCV000856223 RCV000856222 RCV000856220 RCV000856219 RCV000856216 RCV000856215 RCV000856214 RCV000856213 RCV000856212 RCV000856211 RCV000856210 RCV000856209 RCV000856208 RCV000856225 RCV000856221 RCV000856218 RCV000856217

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	31882852, 34609407
Adenocarcinoma of Lung	Associate	31558162
Breast Neoplasms	Stimulate	15193263
Breast Neoplasms	Associate	18499701, 19250546, 21559019, 21574054, 22293681, 23099437, 23497539, 23812955, 25640367, 26728744, 27424772
Calcinosis Cutis	Associate	29716922, 35031163, 36446039
Carcinogenesis	Associate	19793339, 25743797, 26108461, 32376288
Carcinoma Basal Cell	Associate	32830201
Carcinoma Hepatocellular	Associate	25031711
Carcinoma Renal Cell	Associate	33619226, 39331921
Colorectal Neoplasms	Inhibit	15928669
Colorectal Neoplasms	Associate	23541221, 30541551, 33099213, 36356413, 37434131
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	36356413
Congenital thrombotic disease due to Protein C deficiency	Associate	31273254
Drug Related Side Effects and Adverse Reactions	Associate	31878059
Ependymoma	Associate	19793339
Esophageal Squamous Cell Carcinoma	Associate	27956498, 30082829, 33693959, 39596630
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18499701, 27899188
Hereditary pancreatitis	Associate	33423702
Inflammatory Bowel Diseases	Associate	35557042
Kidney Neoplasms	Associate	33619226
Leukemia	Associate	26108461, 33099213
Lymphatic Metastasis	Associate	18499701, 30541551, 35296171
Lymphatic Metastasis	Stimulate	34609407
Mental Disorders	Associate	23318356
Neoplasm Metastasis	Associate	25031711, 25640367, 27497761, 31273254, 32540218, 32690948, 33514011, 35296171, 35468964, 38236581
Neoplasm Metastasis	Inhibit	35468964
Neoplasms	Inhibit	15928669, 31273254, 33619226, 34396425
Neoplasms	Associate	16445654, 18499701, 20504375, 22293681, 23064873, 24550738, 24722062, 25031711, 25287138, 25629170, 25825985, 26108461, 26261579, 26457646, 28186998, 29844167, 30541551, 32293332, 32376288, 32830201, 33099213, 33693959, 34059701, 34864309, 34911933, 35849143, 36446039, 38236581
Niemann Pick Disease Type C	Associate	36597889
Ovarian Neoplasms	Associate	25944620, 35639251
Pancreatic Neoplasms	Associate	26261579
Papilloma	Associate	25743797
Polyps	Associate	33423702
Prostate cancer familial	Associate	22236224, 22714738, 23396964, 23457453, 24722062, 25595936, 27899188, 28272408, 28790484, 31556563, 34059701
Prostate Cancer Hereditary 7	Associate	30181389, 37806842
Prostatic Neoplasms	Associate	15583692, 17280610, 19917249, 20504375, 22236224, 22293681, 22714738, 22718278, 22808286, 23036981, 23064873, 23099437, 23104005, 23129385, 23318356, 23393222, 23396964, 23457453, 23541221, 24148311, 24310616, 24550738, 24722062, 25335771, 25595936, 25629170, 25825985, 26108461, 26176944, 26398868, 27034017, 27424772, 27701467, 27899188, 27902461, 28186998, 28555048, 28657667, 28790484, 29259341, 29716922, 30181389, 30730552, 31214711, 31273254, 31556563, 31629417, 31882852, 32012197, 32343676, 32516092, 32540218, 32546843, 32681068, 32690948, 32800727, 32830201, 33099213, 33293427, 33514011, 33531604, 33941403, 34059701, 34609407, 34799695, 35031163, 35118230, 35317841, 35468964, 35534218, 35638715, 35666082, 35849143, 36446039, 36493335, 36609444, 37038004, 37059746, 37140987, 37550764, 37806842, 38332742
Prostatic Neoplasms Castration Resistant	Associate	27497761, 29844167, 35849143
Prostatitis	Associate	24148311, 24456780, 26108461, 26176944, 26457646, 28186998, 29844167, 31735626, 33531604, 35849143, 38112617
Pyruvate Carboxylase Deficiency Disease	Associate	31556563
Rectal Neoplasms	Associate	35296171
Rhabdoid Tumor	Stimulate	32376288
Schizotypal Personality Disorder	Associate	21574054
Skin Neoplasms	Associate	32830201
Squamous Cell Carcinoma of Head and Neck	Associate	28808656, 33315534, 37245006
Stomach Diseases	Associate	34864309
Stomach Neoplasms	Associate	33099213, 34396425, 34864309
Thyroid Cancer Papillary	Associate	24189220
Urinary Bladder Neoplasms	Associate	24189220, 26108461
Uterine Cervical Neoplasms	Associate	16445654, 16803519, 25743797, 28402266, 33099213