CREB3L1 (cAMP responsive element binding protein 3 like 1)

Gene

• Entrez ID: 90993
• Gene name: CAMP responsive element binding protein 3 like 1
• Gene symbol: CREB3L1
• Synonyms (NCBI Gene): C16DELp11.2, DEL16p11.2, OASIS, OI16
• Disease Acronyms (UniProt): OI16
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. Ther

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779809838	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1555222973	AAG>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440882	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440882	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT908634	hsa-miR-1231	CLIP-seq
MIRT908635	hsa-miR-1253	CLIP-seq
MIRT908636	hsa-miR-129-5p	CLIP-seq
MIRT908637	hsa-miR-140-5p	CLIP-seq
MIRT908638	hsa-miR-15a	CLIP-seq
MIRT908639	hsa-miR-15b	CLIP-seq
MIRT908640	hsa-miR-16	CLIP-seq
MIRT908641	hsa-miR-1909	CLIP-seq
MIRT908642	hsa-miR-195	CLIP-seq
MIRT908643	hsa-miR-214	CLIP-seq
MIRT908644	hsa-miR-3174	CLIP-seq
MIRT908645	hsa-miR-338-5p	CLIP-seq
MIRT908646	hsa-miR-342-5p	CLIP-seq
MIRT908647	hsa-miR-3619-5p	CLIP-seq
MIRT908648	hsa-miR-424	CLIP-seq
MIRT908649	hsa-miR-4251	CLIP-seq
MIRT908650	hsa-miR-4278	CLIP-seq
MIRT908651	hsa-miR-4288	CLIP-seq
MIRT908652	hsa-miR-4329	CLIP-seq
MIRT908653	hsa-miR-4481	CLIP-seq
MIRT908654	hsa-miR-4664-5p	CLIP-seq
MIRT908655	hsa-miR-4666-3p	CLIP-seq
MIRT908656	hsa-miR-4745-5p	CLIP-seq
MIRT908657	hsa-miR-4758-5p	CLIP-seq
MIRT908658	hsa-miR-497	CLIP-seq
MIRT908659	hsa-miR-632	CLIP-seq
MIRT908660	hsa-miR-635	CLIP-seq
MIRT908661	hsa-miR-659	CLIP-seq
MIRT908662	hsa-miR-761	CLIP-seq
MIRT908636	hsa-miR-129-5p	CLIP-seq
MIRT1969293	hsa-miR-3160-5p	CLIP-seq
MIRT908646	hsa-miR-342-5p	CLIP-seq
MIRT1969294	hsa-miR-3936	CLIP-seq
MIRT1969295	hsa-miR-4651	CLIP-seq
MIRT908654	hsa-miR-4664-5p	CLIP-seq
MIRT1969296	hsa-miR-555	CLIP-seq
MIRT1969297	hsa-miR-608	CLIP-seq
MIRT908661	hsa-miR-659	CLIP-seq
MIRT2205357	hsa-miR-1207-5p	CLIP-seq
MIRT2205358	hsa-miR-125a-3p	CLIP-seq
MIRT2205359	hsa-miR-1262	CLIP-seq
MIRT2205360	hsa-miR-1271	CLIP-seq
MIRT2205361	hsa-miR-1321	CLIP-seq
MIRT908638	hsa-miR-15a	CLIP-seq
MIRT908639	hsa-miR-15b	CLIP-seq
MIRT908640	hsa-miR-16	CLIP-seq
MIRT2205362	hsa-miR-182	CLIP-seq
MIRT2205363	hsa-miR-1827	CLIP-seq
MIRT908641	hsa-miR-1909	CLIP-seq
MIRT908642	hsa-miR-195	CLIP-seq
MIRT2205364	hsa-miR-2116	CLIP-seq
MIRT908643	hsa-miR-214	CLIP-seq
MIRT2205365	hsa-miR-2278	CLIP-seq
MIRT2205366	hsa-miR-3134	CLIP-seq
MIRT2205367	hsa-miR-3136-3p	CLIP-seq
MIRT2205368	hsa-miR-3151	CLIP-seq
MIRT2205369	hsa-miR-3202	CLIP-seq
MIRT908646	hsa-miR-342-5p	CLIP-seq
MIRT2205370	hsa-miR-3545-5p	CLIP-seq
MIRT2205371	hsa-miR-3612	CLIP-seq
MIRT908647	hsa-miR-3619-5p	CLIP-seq
MIRT2205372	hsa-miR-3665	CLIP-seq
MIRT2205373	hsa-miR-3934	CLIP-seq
MIRT1969294	hsa-miR-3936	CLIP-seq
MIRT908648	hsa-miR-424	CLIP-seq
MIRT2205374	hsa-miR-4270	CLIP-seq
MIRT2205375	hsa-miR-4428	CLIP-seq
MIRT2205376	hsa-miR-4441	CLIP-seq
MIRT2205377	hsa-miR-4446-3p	CLIP-seq
MIRT2205378	hsa-miR-4447	CLIP-seq
MIRT2205379	hsa-miR-4472	CLIP-seq
MIRT2205380	hsa-miR-4476	CLIP-seq
MIRT908653	hsa-miR-4481	CLIP-seq
MIRT2205381	hsa-miR-4488	CLIP-seq
MIRT2205382	hsa-miR-4492	CLIP-seq
MIRT2205383	hsa-miR-4498	CLIP-seq
MIRT2205384	hsa-miR-4502	CLIP-seq
MIRT2205385	hsa-miR-4505	CLIP-seq
MIRT2205386	hsa-miR-4533	CLIP-seq
MIRT2205387	hsa-miR-4646-5p	CLIP-seq
MIRT1969295	hsa-miR-4651	CLIP-seq
MIRT2205388	hsa-miR-4652-3p	CLIP-seq
MIRT908654	hsa-miR-4664-5p	CLIP-seq
MIRT2205389	hsa-miR-4677-3p	CLIP-seq
MIRT2205390	hsa-miR-4677-5p	CLIP-seq
MIRT2205391	hsa-miR-4679	CLIP-seq
MIRT2205392	hsa-miR-4688	CLIP-seq
MIRT2205393	hsa-miR-4697-5p	CLIP-seq
MIRT2205394	hsa-miR-4701-3p	CLIP-seq
MIRT2205395	hsa-miR-4709-3p	CLIP-seq
MIRT2205396	hsa-miR-4710	CLIP-seq
MIRT2205397	hsa-miR-4739	CLIP-seq
MIRT908656	hsa-miR-4745-5p	CLIP-seq
MIRT2205398	hsa-miR-4747-5p	CLIP-seq
MIRT2205399	hsa-miR-4755-3p	CLIP-seq
MIRT2205400	hsa-miR-4756-5p	CLIP-seq
MIRT908657	hsa-miR-4758-5p	CLIP-seq
MIRT2205401	hsa-miR-4763-3p	CLIP-seq
MIRT2205402	hsa-miR-4764-5p	CLIP-seq
MIRT2205403	hsa-miR-4781-3p	CLIP-seq
MIRT2205404	hsa-miR-4795-5p	CLIP-seq
MIRT2205405	hsa-miR-4797-5p	CLIP-seq
MIRT2205406	hsa-miR-486-3p	CLIP-seq
MIRT2205407	hsa-miR-491-5p	CLIP-seq
MIRT908658	hsa-miR-497	CLIP-seq
MIRT2205408	hsa-miR-541	CLIP-seq
MIRT1969296	hsa-miR-555	CLIP-seq
MIRT2205409	hsa-miR-593	CLIP-seq
MIRT1969297	hsa-miR-608	CLIP-seq
MIRT908660	hsa-miR-635	CLIP-seq
MIRT2205410	hsa-miR-650	CLIP-seq
MIRT2205411	hsa-miR-654-5p	CLIP-seq
MIRT2205412	hsa-miR-657	CLIP-seq
MIRT2205413	hsa-miR-759	CLIP-seq
MIRT908662	hsa-miR-761	CLIP-seq
MIRT2205414	hsa-miR-762	CLIP-seq
MIRT2205415	hsa-miR-96	CLIP-seq
MIRT2205358	hsa-miR-125a-3p	CLIP-seq
MIRT908638	hsa-miR-15a	CLIP-seq
MIRT908639	hsa-miR-15b	CLIP-seq
MIRT908640	hsa-miR-16	CLIP-seq
MIRT908641	hsa-miR-1909	CLIP-seq
MIRT908642	hsa-miR-195	CLIP-seq
MIRT908643	hsa-miR-214	CLIP-seq
MIRT2205366	hsa-miR-3134	CLIP-seq
MIRT908646	hsa-miR-342-5p	CLIP-seq
MIRT908647	hsa-miR-3619-5p	CLIP-seq
MIRT1969294	hsa-miR-3936	CLIP-seq
MIRT908648	hsa-miR-424	CLIP-seq
MIRT2205378	hsa-miR-4447	CLIP-seq
MIRT2205379	hsa-miR-4472	CLIP-seq
MIRT1969295	hsa-miR-4651	CLIP-seq
MIRT908654	hsa-miR-4664-5p	CLIP-seq
MIRT2205396	hsa-miR-4710	CLIP-seq
MIRT2205399	hsa-miR-4755-3p	CLIP-seq
MIRT2205402	hsa-miR-4764-5p	CLIP-seq
MIRT2205403	hsa-miR-4781-3p	CLIP-seq
MIRT908658	hsa-miR-497	CLIP-seq
MIRT1969296	hsa-miR-555	CLIP-seq
MIRT2205409	hsa-miR-593	CLIP-seq
MIRT1969297	hsa-miR-608	CLIP-seq
MIRT908660	hsa-miR-635	CLIP-seq
MIRT908662	hsa-miR-761	CLIP-seq
MIRT2205359	hsa-miR-1262	CLIP-seq
MIRT2205368	hsa-miR-3151	CLIP-seq
MIRT2205372	hsa-miR-3665	CLIP-seq
MIRT2205373	hsa-miR-3934	CLIP-seq
MIRT2205378	hsa-miR-4447	CLIP-seq
MIRT2205379	hsa-miR-4472	CLIP-seq
MIRT2205394	hsa-miR-4701-3p	CLIP-seq
MIRT2427980	hsa-miR-4711-3p	CLIP-seq
MIRT2205407	hsa-miR-491-5p	CLIP-seq
MIRT2205412	hsa-miR-657	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IDA	27121396
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	27121396
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0003682	Function	Chromatin binding	ISS
GO:0005515	Function	Protein binding	IPI	21516116, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	25310401
GO:0005634	Component	Nucleus	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	16236796
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007275	Process	Multicellular organism development	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	27121396
GO:0016020	Component	Membrane	IDA	25310401
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	25310401
GO:0035497	Function	CAMP response element binding	IBA	21873635
GO:0035497	Function	CAMP response element binding	ISS
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IDA	27121396
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	27121396
GO:0046332	Function	SMAD binding	IPI	25310401
GO:0070278	Process	Extracellular matrix constituent secretion	ISS
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1903671	Process	Negative regulation of sprouting angiogenesis	IGI	27121396
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 616215
• HGNC: 18856
• e!Ensembl: ENSG00000157613

Protein

• UniProt ID: Q96BA8
• Protein name: Cyclic AMP-responsive element-binding protein 3-like protein 1 (cAMP-responsive element-binding protein 3-like protein 1) (Old astrocyte specifically-induced substance) (OASIS) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like
• Protein function: [Cyclic AMP-responsive element-binding protein 3-like protein 1]: Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00170	bZIP_1	288 → 351	bZIP transcription factor	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in several tissues, with highest levels in pancreas and prostate. Expressed at relatively lower levels in brain. {ECO:0000269|PubMed:12054625}.
• Sequence:

  MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFD
  DPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALG
  HKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQL
  PVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
  ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKN
  KISAQESRRKKKEYVECLEKKVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNK
  ISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
  PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
  YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS

• Sequence length: 519

Pathways

KEGG:

cGMP-PKG signaling pathway
cAMP signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Adrenergic signaling in cardiomyocytes
TNF signaling pathway
Thermogenesis
Cholinergic synapse
Dopaminergic synapse
Insulin secretion
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Glucagon signaling pathway
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Insulin resistance
Cushing syndrome
Growth hormone synthesis, secretion and action
Vasopressin-regulated water reabsorption
Huntington disease
Prion disease
Cocaine addiction
Amphetamine addiction
Alcoholism
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Prostate cancer

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Osteogenesis imperfecta	Osteogenesis Imperfecta, Osteogenesis imperfecta type III (disorder), OSTEOGENESIS IMPERFECTA, TYPE XVI, Osteogenesis imperfecta type 3	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	24079343, 30657919

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Major Depressive Disorder		29942085	ClinVar
Osteogenesis Imperfecta	osteogenesis imperfecta type 3			GenCC
Hypertension	Hypertension			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adjustment Disorders	Associate	33280191
Anodontia	Associate	32234057
Breast Neoplasms	Associate	25625847, 26810754, 29057869, 29530003
Calcinosis Cutis	Associate	25353281
Carcinoma Squamous Cell	Associate	28186972
Contracture	Associate	31207160
Deafness oligodontia syndrome	Associate	32234057
Endometrial Stromal Tumors	Associate	15640831, 25231134, 29274042
Fibrosarcoma	Associate	25353281, 29274042
Fibrosis	Associate	36435939
Fractures Bone	Associate	28817112
Glioma	Associate	23335989, 29531016
Glioma of Brain Familial	Associate	29531016
Heart defects limb shortening	Associate	31207160
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	33280191
Lupus Erythematosus Systemic	Associate	34299244
Neoplasm Metastasis	Inhibit	25625847, 36123435
Neoplasm Metastasis	Associate	26810754, 29057869
Neoplasms	Associate	15640831, 25353281, 28186972, 29057869, 33280191
Neoplasms	Inhibit	25625847, 36123435, 40427627
Oligodendroglioma	Associate	29631562
Osteogenesis Imperfecta	Associate	24079343, 28817112, 31207160, 32234057
Osteogenesis imperfecta type 2A	Associate	28817112
Osteogenesis imperfecta type 3	Associate	32234057
Philadelphia Chromosome	Associate	33280191
Polycythemia Vera	Associate	33280191
Primary Myelofibrosis	Associate	33280191
Prostatitis	Associate	28750683
Pseudarthrosis	Associate	31207160
Supraumbilical midabdominal raphe and facial cavernous hemangiomas	Associate	31207160
Thrombocythemia Essential	Stimulate	33280191
Thyroid Carcinoma Anaplastic	Stimulate	31183379
Thyroid Carcinoma Anaplastic	Associate	32887540
Thyroid Neoplasms	Associate	32887540
Triple Negative Breast Neoplasms	Inhibit	26810754
Triple Negative Breast Neoplasms	Associate	29057869, 33280191, 36123435, 40427627
Urinary Bladder Neoplasms	Inhibit	25625847
Venous Thrombosis	Associate	37331118