HOXD10 (homeobox D10)

Gene

• Entrez ID: 3236
• Gene name: Homeobox D10
• Gene symbol: HOXD10
• Synonyms (NCBI Gene): HOX4, HOX4D, HOX4E, Hox-4.4
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcriptio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893634	T>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	17898713
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	17898713
MIRT002021	hsa-miR-10b-5p	Review	19935707
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay	17898713
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21419107
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay	23034333
MIRT002021	hsa-miR-10b-5p	Reporter assay	21642433
MIRT002021	hsa-miR-10b-5p	Reporter assay	17898713
MIRT042798	hsa-miR-339-5p	CLASH	23622248
MIRT002021	hsa-miR-10b-5p	Western blot	22766763
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	22293682
MIRT054457	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	24219032
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24573354
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24573354
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry	24897960
MIRT438248	hsa-miR-146a-5p	Immunohistochemistry, qRT-PCR, Western blot	25010866
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT438248	hsa-miR-146a-5p	Immunohistochemistry, qRT-PCR, Western blot	25010866
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT002021	hsa-miR-10b-5p	Luciferase reporter assay, Immunocytochemistry, Western blot	24376640
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT523138	hsa-miR-6083	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT523138	hsa-miR-6083	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523138	hsa-miR-6083	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523138	hsa-miR-6083	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT002021	hsa-miR-10b-5p	3'LIFE	25074381
MIRT002021	hsa-miR-10b-5p	3'LIFE	25074381
MIRT002021	hsa-miR-10b-5p	Immunohistochemistry, qRT-PCR, Western blot	26311318
MIRT732658	hsa-miR-525-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33258220
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT523138	hsa-miR-6083	HITS-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT523138	hsa-miR-6083	HITS-CLIP	23313552
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT523139	hsa-miR-6757-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT523138	hsa-miR-6083	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT504821	hsa-miR-135a-3p	HITS-CLIP	23824327
MIRT504820	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT504819	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT504818	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523138	hsa-miR-6083	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	21572407
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT523139	hsa-miR-6757-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523138	hsa-miR-6083	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504821	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT504820	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504819	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504818	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT738581	hsa-miR-1193	CLIP-seq
MIRT738582	hsa-miR-1287	CLIP-seq
MIRT1053739	hsa-miR-1470	CLIP-seq
MIRT738580	hsa-miR-3134	CLIP-seq
MIRT738583	hsa-miR-3135b	CLIP-seq
MIRT1053740	hsa-miR-4469	CLIP-seq
MIRT1053741	hsa-miR-4667-3p	CLIP-seq
MIRT2012198	hsa-miR-140-3p	CLIP-seq
MIRT2012199	hsa-miR-501-3p	CLIP-seq
MIRT2012200	hsa-miR-502-3p	CLIP-seq
MIRT2012201	hsa-miR-767-5p	CLIP-seq
MIRT2012198	hsa-miR-140-3p	CLIP-seq
MIRT2012199	hsa-miR-501-3p	CLIP-seq
MIRT2012200	hsa-miR-502-3p	CLIP-seq
MIRT2012201	hsa-miR-767-5p	CLIP-seq
MIRT2547480	hsa-miR-4256	CLIP-seq
MIRT2547480	hsa-miR-4256	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
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	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007338	Process	Single fertilization	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 142984
• HGNC: 5133
• e!Ensembl: ENSG00000128710

Protein

• UniProt ID: P28358
• Protein name: Homeobox protein Hox-D10 (Homeobox protein Hox-4D) (Homeobox protein Hox-4E)
• 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	267 → 323	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in the adult male and female urogenital tracts.
• Sequence:

  MSFPNSSPAANTFLVDSLISACRSDSFYSSSASMYMPPPSADMGTYGMQTCGLLPSLAKR
  EVNHQNMGMNVHPYIPQVDSWTDPNRSCRIEQPVTQQVPTCSFTTNIKEESNCCMYSDKR
  NKLISAEVPSYQRLVPESCPVENPEVPVPGYFRLSQTYATGKTQEYNNSPEGSSTVMLQL
  NPRGAAKPQLSAAQLQMEKKMNEPVSGQEPTKVSQVESPEAKGGLPEERSCLAEVSVSSP
  EVQEKESKEEIKSDTPTSNWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEIS
  KSVNLTDRQVKIWFQNRRMKLKKMSRENRIRELTANLTFS

• Sequence length: 340

Pathways

KEGG:

Proteoglycans in cancer
MicroRNAs in cancer

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Amyotrophic lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs371575563, rs1402429085, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	24529757
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Carcinoma of the head and neck	Squamous cell carcinoma of the head and neck	rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001, rs786201838, rs587782144, rs866775781, rs730882008, rs1567549584, rs1597371666, rs1597365075	22227861
Charcot-marie-tooth disease	Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, Type Ia (disorder), Charcot-Marie-Tooth Disease, Type Ib	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887	15146389
Dysautonomia	Hereditary Motor and Sensory-Neuropathy Type II	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995	15146389
Hereditary motor and sensory neuropathy	Hereditary Motor and Sensory Neuropathy Type I	rs1555365597, rs387906941, rs207482230, rs587778791, rs587778798, rs587777108, rs587780564, rs587777789, rs1566733927	15146389
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	24529757
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17568789

Unknown
Disease term	Disease name	Evidence	References	Source
Vertical Talus	congenital vertical talus			GenCC
Gout	Gout			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
ATR X syndrome	Associate	37812190
Breast Neoplasms	Associate	18922890, 20843787, 24386080, 25081374
Breast Neoplasms Male	Associate	19664288
Carcinogenesis	Associate	23980595, 26260613, 9773404
Carcinoma Ductal Breast	Associate	25081374
Carcinoma Hepatocellular	Associate	25236186, 34761603, 34911488
Carcinoma Renal Cell	Inhibit	34825321
Charcot Marie Tooth Disease	Associate	15146389, 16450407
Cholangiocarcinoma	Associate	26260613
Colonic Neoplasms	Stimulate	23980595
Colonic Neoplasms	Associate	30683109, 35593226
Colorectal Neoplasms	Associate	30683109, 34292663
Endometrial Neoplasms	Associate	9773404
Endometriosis	Associate	33667269
Epidermolysis bullosa with pyloric atresia	Associate	30850842
Esophageal Squamous Cell Carcinoma	Associate	39596630
Fibrocartilaginous embolism	Associate	24376640
Flatfoot	Associate	15146389, 16450407
Glioblastoma	Associate	40209540
Glioma	Inhibit	24305689
Glioma	Associate	37812190, 38138552
Head and Neck Neoplasms	Associate	25301728
Intervertebral Disc Degeneration	Associate	24376640
Leukemia Myeloid Acute	Associate	30468483
Lung Diseases	Associate	26425700
Lymphatic Metastasis	Associate	26311318
Microvascular Angina	Stimulate	34911488
Neoplasm Metastasis	Associate	25010866, 26311318, 28745433
Neoplasms	Associate	18404365, 22227861, 25010866, 30850842, 35593226, 9773404
Neoplasms	Stimulate	23980595
Neoplasms	Inhibit	26260613, 34761603, 34825321
Oculocutaneous albinism type 2	Inhibit	25081374
Ovarian Neoplasms	Associate	33667269, 36213580
Prostatic Neoplasms	Associate	28005952
Squamous Cell Carcinoma of Head and Neck	Associate	22227861, 25010866, 25301728, 27658780
Stomach Neoplasms	Associate	24386080, 26311318
Syndactyly	Associate	21654727
Tertiary Lymphoid Structures	Associate	26311318
Uterine Cervical Neoplasms	Associate	28402266