PTHLH (parathyroid hormone like hormone)

Gene

• Entrez ID: 5744
• Gene name: Parathyroid hormone like hormone
• Gene symbol: PTHLH
• Synonyms (NCBI Gene): BDE2, HHM, PLP, PTHR, PTHRP
• Disease Acronyms (UniProt): BDE2
• Chromosome: 12
• Chromosome location: 12p11.22
• Summary: The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606985	A>G	Pathogenic	Missense variant, coding sequence variant
rs267606986	A>G	Pathogenic	Missense variant, coding sequence variant
rs267606987	T>C	Pathogenic	Genic downstream transcript variant, stop lost, terminator codon variant
rs267606988	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555124505	A>G	Likely-pathogenic	Stop lost, terminator codon variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT035547	hsa-miR-33a-5p	Luciferase reporter assay	23453925
MIRT035547	hsa-miR-33a-5p	Luciferase reporter assay	23453925
MIRT735610	hsa-miR-370-3p	RNA-seq, qRT-PCR	32065449
MIRT1273385	hsa-miR-3942-3p	CLIP-seq
MIRT1273386	hsa-miR-4729	CLIP-seq
MIRT1273387	hsa-miR-1275	CLIP-seq
MIRT1273388	hsa-miR-15a	CLIP-seq
MIRT1273389	hsa-miR-15b	CLIP-seq
MIRT1273390	hsa-miR-16	CLIP-seq
MIRT1273391	hsa-miR-195	CLIP-seq
MIRT1273392	hsa-miR-214	CLIP-seq
MIRT1273393	hsa-miR-29a	CLIP-seq
MIRT1273394	hsa-miR-29b	CLIP-seq
MIRT1273395	hsa-miR-29c	CLIP-seq
MIRT1273396	hsa-miR-3065-3p	CLIP-seq
MIRT1273397	hsa-miR-3175	CLIP-seq
MIRT1273398	hsa-miR-3619-5p	CLIP-seq
MIRT1273399	hsa-miR-3908	CLIP-seq
MIRT1273400	hsa-miR-424	CLIP-seq
MIRT1273401	hsa-miR-4291	CLIP-seq
MIRT1273402	hsa-miR-4328	CLIP-seq
MIRT1273403	hsa-miR-4525	CLIP-seq
MIRT1273404	hsa-miR-4665-5p	CLIP-seq
MIRT1273405	hsa-miR-4723-5p	CLIP-seq
MIRT1273406	hsa-miR-497	CLIP-seq
MIRT1273407	hsa-miR-625	CLIP-seq
MIRT1273408	hsa-miR-761	CLIP-seq
MIRT1273409	hsa-miR-922	CLIP-seq
MIRT2604300	hsa-miR-200b	CLIP-seq
MIRT2604301	hsa-miR-200c	CLIP-seq
MIRT2604302	hsa-miR-4263	CLIP-seq
MIRT2604303	hsa-miR-429	CLIP-seq
MIRT2604304	hsa-miR-576-5p	CLIP-seq
MIRT2604305	hsa-miR-587	CLIP-seq
MIRT2604300	hsa-miR-200b	CLIP-seq
MIRT2604301	hsa-miR-200c	CLIP-seq
MIRT2689053	hsa-miR-374c	CLIP-seq
MIRT1273385	hsa-miR-3942-3p	CLIP-seq
MIRT2604303	hsa-miR-429	CLIP-seq
MIRT2689054	hsa-miR-655	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	15072578;8063775
ETS1	Unknown	11590145
NFKB1	Activation	17554373
RELA	Activation	17554373
SMAD3	Activation	24330518
SP1	Activation	8063775

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IDA	9008714
GO:0002076	Process	Osteoblast development	IBA	21873635
GO:0005179	Function	Hormone activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19674967
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	8641188
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	10803599
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	9832460
GO:0007267	Process	Cell-cell signaling	TAS	2549037
GO:0007565	Process	Female pregnancy	TAS	10828849
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	10773581
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	8058749
GO:0008544	Process	Epidermis development	TAS	8058749
GO:0010468	Process	Regulation of gene expression	IDA	90087
GO:0030282	Process	Bone mineralization	IEA
GO:0032330	Process	Regulation of chondrocyte differentiation	IBA	21873635
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	90087
GO:0046058	Process	CAMP metabolic process	TAS	2549037
GO:0051428	Function	Peptide hormone receptor binding	IBA	21873635
GO:0051428	Function	Peptide hormone receptor binding	IDA	19674967
GO:0061182	Process	Negative regulation of chondrocyte development	IDA	90087

Other IDs

• MIM: 168470
• HGNC: 9607
• e!Ensembl: ENSG00000087494

Protein

• UniProt ID: P12272
• Protein name: Parathyroid hormone-related protein (PTH-rP) (PTHrP) (Parathyroid hormone-like protein) (PLP) [Cleaved into: PTHrP[1-36]; PTHrP[38-94]; Osteostatin (PTHrP[107-139])]
• Protein function: Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport (PubMed:12538599, PubMed:35932760, PubMed:3616618). Acts by binding t
• PDB: 1BZG, 1M5N, 3FFD, 3H3G, 7UZO, 7UZP, 7VVJ, 8D51, 8D52, 8FLR, 8HAF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01279	Parathyroid	34 → 128	Parathyroid hormone family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Also expressed in the mammary gland.
• Sequence:

  MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFL
  HHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLK
  TPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH

• Sequence length: 177

Pathways

KEGG:

Hormone signaling
Parathyroid hormone synthesis, secretion and action

Reactome:

Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly, Brachydactyly syndrome type E, BRACHYDACTYLY, TYPE E2, Brachydactyly type E	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142	20170896
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	22267197
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	22267197
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354	11054717, 10638776, 12358896, 3616618
Lung carcinoma	Non-Small Cell Lung Carcinoma	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	17676588
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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	22267197
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	11054717
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431	17625444
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	16243370

Unknown
Disease term	Disease name	Evidence	References	Source
Pancreatitis	Pancreatitis, Chronic		25035110	ClinVar
Diabetes	Diabetes			GWAS
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Achondroplasia	Inhibit	12929929
Acro Osteolysis	Stimulate	17882547
Acro Osteolysis	Associate	26733284, 35908058
Adenocarcinoma	Associate	16033073
Allergic Fungal Sinusitis	Stimulate	21177983
Arthritis Rheumatoid	Stimulate	9525978
Astrocytoma	Associate	10942719
Bone Diseases	Associate	11369623, 11590145, 11701443, 21085597, 23787729, 26160166, 30689168
Bone Marrow Diseases	Associate	26160550
Bone Neoplasms	Associate	21625386, 22508574
Bone Resorption	Stimulate	11701443
Bone Resorption	Associate	17390372, 31569368, 36482064, 9525978
Brachydactyly	Associate	26733284, 31283647
Brachydactyly	Stimulate	34897794
Brachydactyly type A1	Associate	26733284
Brachydactyly Type E	Associate	26733284, 29499646, 31283647
Breast Neoplasms	Associate	10027905, 10606734, 11590145, 11875691, 12592371, 12628005, 12747808, 16551631, 17406357, 1782489, 17882547, 20126581, 20401668, 21868511, 22087758, 22348646, 22747683, 23544012, 23588777, 23787729, 23822995, 24325915, 26160166, 26597083, 35413833, 7556886, 7599071, 8214010, 8491763, 8712650, 9341902, 9376272
Breast Neoplasms	Stimulate	21775817
Cachexia	Associate	26615135
Calcinosis	Associate	8214010, 8712650
Calcinosis Cutis	Stimulate	11393412
Calcinosis Cutis	Associate	12576923
Carcinogenesis	Associate	10606734, 24384722, 25365173, 37242266
Carcinoid Tumor	Associate	20890111
Carcinoma	Associate	7496089
Carcinoma Hepatocellular	Associate	22997493, 23499802
Carcinoma Mucoepidermoid	Associate	23588777
Carcinoma Non Small Cell Lung	Associate	19633068, 20890111
Carcinoma Renal Cell	Associate	10843457, 11737483, 23780896, 31569368, 7690760
Carcinoma Renal Cell	Stimulate	24861371
Carcinoma Squamous Cell	Associate	1732383, 24356192, 33658703, 34301206, 8514608
Carcinoma Transitional Cell	Associate	8019040
Chondrodysplasia blomstrand type	Associate	9649554
Chondroma	Associate	15685701
Chondrosarcoma	Associate	11140704, 15685701, 25365173
Clear cell metastatic renal cell carcinoma	Associate	19364692
Colonic Diseases	Stimulate	17406357
Colonic Neoplasms	Associate	19616583, 9376272
Colorectal Neoplasms	Associate	17276526, 17406357, 19616583, 20637541, 34887626
Consciousness Disorders	Inhibit	35965075
Craniofacial Fibrous Dysplasia	Associate	37108778
Cystic Fibrosis	Stimulate	21177983
Diabetic Nephropathies	Associate	28954822
Dyskinesia Drug Induced	Stimulate	36272974
Dyskinesias	Associate	31435075
Enchondromatosis	Associate	35908058
Endotoxemia	Associate	9525978
Epiphyseal dysplasia multiple 3	Associate	31283647
Esophageal Squamous Cell Carcinoma	Associate	36272974
Failure of Tooth Eruption Primary	Associate	31623502
Fibrous Dysplasia of Bone	Stimulate	37108778
Ganglioneuroblastoma	Stimulate	19350667
Ganglioneuroma	Associate	19350667
Gastroesophageal Reflux	Associate	15800880
Genetic Diseases Inborn	Associate	34897794
Giant Cell Tumor of Bone	Associate	22102368
Glioma	Associate	15517575
Granulosa cell tumor of the ovary	Associate	21625386, 22102368, 22508574
Growth Disorders	Associate	26733284, 31283647, 39267114
Growth Hormone Deficiency With Pituitary Anomalies	Associate	8157764
Hereditary Breast and Ovarian Cancer Syndrome	Associate	17406357
HTLV I Infections	Stimulate	18541021
Humoral Hypercalcemia Of Malignancy	Stimulate	11737483, 8019040
Humoral Hypercalcemia Of Malignancy	Associate	15331405, 18541021, 2777759, 3137193, 34887626, 7690760, 8514608
Hypercalcemia	Stimulate	10843457, 12576923, 23787729, 29548309, 37242266, 7496089, 7549149, 9422518, 9783553
Hypercalcemia	Associate	10942719, 11030205, 11393412, 11737483, 12388158, 15794681, 15800880, 16033073, 1732383, 19364692, 20401668, 23588777, 2388034, 2576961, 26615135, 26631887, 2885845, 7797535, 8019040, 8371355, 8380405, 8514608, 8514609, 8703170, 9610565
Hyperplasia	Associate	16033073
Infections	Associate	8393873
Inflammation	Associate	15800880
Jansen type metaphyseal chondrodysplasia	Associate	8703170
Joint Diseases	Associate	9744821
Kidney Cortex Necrosis	Associate	38287102
Kidney Diseases	Associate	26631887
Kidney Failure Chronic	Associate	2576961
Laryngeal Neoplasms	Associate	35761298
Leiomyoma	Associate	10426571, 12201218
Leukemia	Associate	8514609
Leukemia Lymphoma Adult T Cell	Associate	11393412, 1480540, 18541021, 1911223, 2388034, 7662973, 8380405, 8514609
Leukemia Lymphoma Adult T Cell	Stimulate	8371355
Leukocytosis	Stimulate	7549149
Liver Cirrhosis Biliary	Associate	9525978
Lung Neoplasms	Associate	1299622, 15282196, 15291755, 20890111, 2885845, 30689168
Lung Neoplasms	Inhibit	19633068
Lymphatic Metastasis	Associate	17391312, 23588777
Lymphatic Metastasis	Stimulate	26597083
Lymphoma T Cell	Associate	1911223
MASS syndrome	Associate	12576923
Melanoma	Associate	12576923, 26615135
Meningioma	Associate	10942719
Mouth Diseases	Associate	8157764
Mouth Neoplasms	Associate	25029526
Multiple Myeloma	Associate	11030205, 23787729, 26631887, 9783553
Neoplasm Metastasis	Associate	10027905, 11742494, 11875691, 17406357, 19584267, 21775817, 33008833, 33323051, 9341902
Neoplasm Metastasis	Stimulate	1782489, 21085597, 26597083, 8712650
Neoplasms	Associate	10066803, 10352098, 10710253, 10843457, 11240828, 11737483, 11742494, 15291755, 15517575, 16551631, 17406357, 1911223, 19350667, 19584267, 19633068, 20637541, 20890111, 21085597, 23588777, 23625795, 23822995, 2388034, 24861371, 25365173, 26597083, 26615135, 2777759, 30689168, 31435075, 33008833, 34887626, 35761298, 36834647, 37045779, 40409424, 7496089, 7549149, 7615845, 7669584, 7690760, 7880211, 8012094, 8019040, 8214010, 8491763, 8514608, 9341902, 9610565, 9893121
Neoplasms	Stimulate	1782489, 22104250, 8712650
Nephrogenic Fibrosing Dermopathy	Stimulate	8019040
Neuroblastoma	Associate	19350667
Nonseminomatous germ cell tumor	Associate	37242266
Osteoarthritis	Associate	24034904, 32571421, 37749624, 9744821
Osteoarthritis	Stimulate	30949498
Osteoarthritis Hip	Associate	37749624
Osteoarthritis Knee	Associate	37749624
Osteochondroma	Associate	11140704
Osteolysis	Associate	10942719, 11590145, 23822995
Osteoporosis	Associate	20844958, 26568273
Osteoporosis pseudoglioma syndrome	Associate	35908058
Osteosarcoma	Associate	10066803, 10352098
Ovarian Neoplasms	Associate	19304784
Pancreatic Neoplasms	Associate	17078869
Paraneoplastic Endocrine Syndromes	Stimulate	37045779
Paraparesis Tropical Spastic	Stimulate	18541021
Paraparesis Tropical Spastic	Associate	2388034
Parathyroid Diseases	Associate	2576961, 9893121
Pectus Carinatum	Associate	31283647
Phenylketonurias	Associate	10942719
Pituitary Neoplasms	Associate	8157764
Prostatic Neoplasms	Associate	11701443, 11742494, 11875691, 15453805, 17390372, 19706771, 21664243, 23192379, 23752183
Prostatic Neoplasms	Stimulate	9610565
Prostatitis	Associate	11742494
Pseudohypoparathyroidism	Associate	29499646, 31041856, 39267114
Radiculopathy	Associate	31623502
Rufous oculocutaneous albinism	Associate	16033073
Sarcoidosis	Associate	26160550, 9422518
Seminoma	Associate	37242266
Short limb dwarfism Al Gazali type	Associate	8703170
Sleep Apnea Obstructive	Associate	34349888
Spinal Cord Diseases	Associate	18541021, 2388034
Squamous Cell Carcinoma of Head and Neck	Associate	17391312, 18254958, 23588777, 25539663, 35211756, 35761298, 7615845
Substance Related Disorders	Associate	9893121
Tachycardia Atrioventricular Nodal Reentry	Associate	8214010
Thanatophoric Dysplasia	Inhibit	12929929
Thoracic Injuries	Stimulate	11393412
Thyroid Carcinoma Anaplastic	Associate	7549149
Tooth Eruption Ectopic	Associate	31623502
Triple Negative Breast Neoplasms	Associate	24325915
Upington disease	Associate	26733284
Ureteral Neoplasms	Stimulate	8019040
Urinary Bladder Neoplasms	Associate	10710253, 12576923, 36439109
Uterine Neoplasms	Associate	7880211