ATF4 (activating transcription factor 4)

Gene

• Entrez ID: 468
• Gene name: Activating transcription factor 4
• Gene symbol: ATF4
• Synonyms (NCBI Gene): CREB-2, CREB2, TAXREB67, TXREB
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007201	hsa-miR-214-3p	Luciferase reporter assay	23223004
MIRT007201	hsa-miR-214-3p	Luciferase reporter assay	23223004
MIRT043684	hsa-miR-342-3p	CLASH	23622248
MIRT042655	hsa-miR-196b-5p	CLASH	23622248
MIRT735196	hsa-miR-124-3p	Western blotting, Immunohistochemistry (IHC), in vitro cullelar assays, qRT-PCR, Immunocytochemistry (ICC)	33161580
MIRT804281	hsa-miR-3120-3p	CLIP-seq
MIRT804282	hsa-miR-548v	CLIP-seq
MIRT804281	hsa-miR-3120-3p	CLIP-seq
MIRT804282	hsa-miR-548v	CLIP-seq
MIRT804281	hsa-miR-3120-3p	CLIP-seq
MIRT804282	hsa-miR-548v	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC4	Unknown	24308964
IRF7	Activation	21148039
TRIB3	Repression	15781252;17707795

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	21113145
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	12871976
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	TAS	23392669
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	11478948, 12871976
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001085	Function	RNA polymerase II transcription factor binding	IPI	11478948
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Function	DNA binding	IDA	15788408, 15911876, 18940792
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11960987, 15109498, 23123191, 32132707
GO:0003700	Function	DNA-binding transcription factor activity	TAS	12689582
GO:0005515	Function	Protein binding	IPI	9488481, 11238952, 12743605, 12812986, 12860379, 15677469, 15911876, 16169070, 16189514, 16343488, 16682973, 18330356, 18940792, 19164757, 19447967, 20102225, 20936779, 21408167, 21988832, 23123191, 25241761, 25416956, 25910212, 26700459, 26871637, 29892012, 31413325, 31515488, 3229
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	11478948, 16682973, 23123191, 23392669
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	23392669
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IDA	20873783
GO:0006094	Process	Gluconeogenesis	ISS
GO:0006355	Process	Regulation of transcription, DNA-templated	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	ISS
GO:0006874	Process	Cellular calcium ion homeostasis	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0008140	Function	CAMP response element binding protein binding	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IMP	22915762
GO:0010628	Process	Positive regulation of gene expression	IMP	16445384, 24136195, 24939851
GO:0016607	Component	Nuclear speck	IEA
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0030182	Process	Neuron differentiation	IEA
GO:0030282	Process	Bone mineralization	ISS
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0031667	Process	Response to nutrient levels	IDA	11960987
GO:0032057	Process	Negative regulation of translational initiation in response to stress	ISS
GO:0032590	Component	Dendrite membrane	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0034198	Process	Cellular response to amino acid starvation	ISS
GO:0034399	Component	Nuclear periphery	IDA	23392669
GO:0034599	Process	Cellular response to oxidative stress	ISS
GO:0034644	Process	Cellular response to UV	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	19061639
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	24939851
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0036003	Process	Positive regulation of transcription from RNA polymerase II promoter in response to stress	IC	25681212
GO:0036091	Process	Positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IMP	21113145
GO:0036091	Process	Positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress	ISS	23392669
GO:0036499	Process	PERK-mediated unfolded protein response	ISS
GO:0036499	Process	PERK-mediated unfolded protein response	TAS	22013210, 22934019
GO:0042149	Process	Cellular response to glucose starvation	IMP	22915762
GO:0042789	Process	MRNA transcription by RNA polymerase II	ISS
GO:0043005	Component	Neuron projection	IDA	23392669
GO:0043065	Process	Positive regulation of apoptotic process	TAS	23392669
GO:0043267	Process	Negative regulation of potassium ion transport	IEA
GO:0043522	Function	Leucine zipper domain binding	IDA	11478948
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	22915762
GO:0045667	Process	Regulation of osteoblast differentiation	IDA	15109498
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15775988, 18940792
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	11960987
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	NAS	9190894
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IMP	22915762
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11478948, 11960987, 15109498, 15775988, 18940792, 23123191
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15788408
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0061395	Process	Positive regulation of transcription from RNA polymerase II promoter in response to arsenic-containing substance	TAS	14685163
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070169	Process	Positive regulation of biomineral tissue development	IEA
GO:0070309	Process	Lens fiber cell morphogenesis	ISS
GO:0070982	Process	L-asparagine metabolic process	IDA	11960987
GO:0090650	Process	Cellular response to oxygen-glucose deprivation	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	22980225
GO:0140467	Process	Integrated stress response signaling	IDA	32132707
GO:0140468	Process	HRI-mediated signaling	IDA	32132707
GO:1903204	Process	Negative regulation of oxidative stress-induced neuron death	IGI	23392669
GO:1903351	Process	Cellular response to dopamine	IMP	24136195
GO:1905461	Process	Positive regulation of vascular associated smooth muscle cell apoptotic process	IEA
GO:1990037	Component	Lewy body core	IDA	23392669
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IDA	12871976
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IMP	21113145
GO:1990589	Component	ATF4-CREB1 transcription factor complex	IBA	21873635
GO:1990589	Component	ATF4-CREB1 transcription factor complex	IDA	12871976
GO:1990590	Component	ATF1-ATF4 transcription factor complex	IBA	21873635
GO:1990590	Component	ATF1-ATF4 transcription factor complex	IDA	12871976
GO:1990617	Component	CHOP-ATF4 complex	IDA	11478948
GO:1990617	Component	CHOP-ATF4 complex	IPI	18940792
GO:1990617	Component	CHOP-ATF4 complex	NAS	15775988
GO:1990737	Process	Response to manganese-induced endoplasmic reticulum stress	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000120	Process	Positive regulation of sodium-dependent phosphate transport	IEA

Other IDs

• MIM: 604064
• HGNC: 786
• e!Ensembl: ENSG00000128272

Protein

• UniProt ID: P18848
• Protein name: Cyclic AMP-dependent transcription factor ATF-4 (cAMP-dependent transcription factor ATF-4) (Activating transcription factor 4) (Cyclic AMP-responsive element-binding protein 2) (CREB-2) (cAMP-responsive element-binding protein 2) (Tax-responsive enhancer
• Protein function: Transcription factor that binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3') and displays two biological functions, as regulator of metabolic and redox processes under normal cellular conditions, and as master transcription
• PDB: 1CI6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00170	bZIP_1	276 → 339	bZIP transcription factor	Coiled-coil

• Sequence:

  MTEMSFLSSEVLVGDLMSPFDQSGLGAEESLGLLDDYLEVAKHFKPHGFSSDKAKAGSSE
  WLAVDGLVSPSNNSKEDAFSGTDWMLEKMDLKEFDLDALLGIDDLETMPDDLLTTLDDTC
  DLFAPLVQETNKQPPQTVNPIGHLPESLTKPDQVAPFTFLQPLPLSPGVLSSTPDHSFSL
  ELGSEVDITEGDRKPDYTAYVAMIPQCIKEEDTPSDNDSGICMSPESYLGSPQHSPSTRG
  SPNRSLPSPGVLCGSARPKPYDPPGEKMVAAKVKGEKLDKKLKKMEQNKTAATRYRQKKR
  AEQEALTGECKELEKKNEALKERADSLAKEIQYLKDLIEEVRKARGKKRVP

• Sequence length: 351

Pathways

KEGG:

MAPK signaling pathway
cGMP-PKG signaling pathway
Mitophagy - animal
Protein processing in endoplasmic reticulum
PI3K-Akt signaling pathway
Apoptosis
Longevity regulating pathway
Adrenergic signaling in cardiomyocytes
TNF signaling pathway
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Dopaminergic synapse
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Thyroid hormone synthesis
Glucagon signaling pathway
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Non-alcoholic fatty liver disease
Cushing syndrome
Growth hormone synthesis, secretion and action
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Alcoholism
Hepatitis B
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis
Chemical carcinogenesis - receptor activation
Prostate cancer
Lipid and atherosclerosis

Reactome:

ATF4 activates genes in response to endoplasmic reticulum stress
ATF6 (ATF6-alpha) activates chaperone genes
Response of EIF2AK4 (GCN2) to amino acid deficiency
Response of EIF2AK1 (HRI) to heme deficiency

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Marfan syndrome	Mammary Ductal Carcinoma	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	14604972
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18163433

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		18305237	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis	Stimulate	28134810
Acute On Chronic Liver Failure	Associate	26173605
Adenocarcinoma of Lung	Associate	29676829, 31551255, 36226539
Adenoma	Associate	26066753
Adrenocortical Carcinoma	Associate	39965324
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Associate	33749723
Alzheimer Disease	Associate	36867706
Amino Acid Metabolism Inborn Errors	Associate	22135092
Arthritis Rheumatoid	Associate	25811130
Axial osteomalacia	Associate	34698138
Brain Neoplasms	Associate	28553953
Breast Neoplasms	Associate	23294542, 23975372, 27109102, 35662627
Breast Neoplasms	Stimulate	31064130
Calcinosis Cutis	Associate	33586907
Carcinogenesis	Associate	36416348
Carcinoma Ductal	Associate	35906698
Carcinoma Hepatocellular	Associate	23973991, 24330582, 26917416, 29921924, 31523192, 34072570, 34664408, 35389768, 35615577, 36925047, 37457742, 37906604
Carcinoma Non Small Cell Lung	Associate	23975372, 28534368, 33628101, 35864117, 36051358
Carcinoma Non Small Cell Lung	Stimulate	35962830
Carcinoma Ovarian Epithelial	Associate	34839022
Carcinoma Pancreatic Ductal	Associate	33782384, 38553134
Carcinoma Pancreatic Ductal	Stimulate	36416348
Cardiomyopathy Dilated	Associate	35728000
Cardiovascular Diseases	Associate	36012132
Cataract	Associate	26091066
CD59 Deficiency	Associate	35703068
Cholangiocarcinoma	Associate	24587347
Colonic Neoplasms	Associate	29420561, 36246978
Colorectal Neoplasms	Associate	22435535, 22819556, 27468213, 29453334, 32323831, 32888357, 34663797, 35524408, 35883579, 36879117
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30382797
COVID 19	Associate	32323565
Crohn Disease	Associate	26986695
Diabetes Mellitus	Associate	23624551
Diabetic Cardiomyopathies	Associate	30246236
Drug Related Side Effects and Adverse Reactions	Associate	20022965, 31524237
Drug Related Side Effects and Adverse Reactions	Stimulate	28991167
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	40646440
Escherichia coli Infections	Associate	26986695
Esophageal Neoplasms	Associate	32398095
Fibrocartilaginous embolism	Associate	36324122
Glioblastoma	Associate	29698579, 29991528, 31534165, 33111629, 34239013, 36245009, 37823569, 39652629
Glioma	Associate	28553953, 29716673
Glycogen Storage Disease Type IV	Associate	28553953
Head and Neck Neoplasms	Associate	34306318
Hearing Loss Sensorineural	Stimulate	33170831
Hemangioma capillary infantile	Stimulate	28438094
Hemoglobinopathies	Associate	32755585
Huntington Disease	Associate	34347195
Hypertension	Associate	27400471
Hypoxia	Stimulate	14604972, 28438094, 37823569
Hypoxia	Associate	19018773, 23294542, 29749460, 31424999, 34239013, 36416348
Hypoxia Brain	Stimulate	14604972
Idiopathic Pulmonary Fibrosis	Associate	18635891, 36555349, 37978501
Idiopathic Pulmonary Fibrosis	Stimulate	39745695
Infections	Associate	32369565
Inflammation	Associate	26040555, 36012132
Insulin Resistance	Associate	30382797
Keratoconus	Associate	30029277
Leukemia	Associate	26275811
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	27802179
Leukemia Myeloid Acute	Associate	34507566, 35305370
Leukoencephalopathies	Associate	31691183
Liposarcoma	Associate	37205634
Lung Diseases	Associate	36555349
Lung Neoplasms	Associate	30305853, 33628101, 36521248, 36864513
Lymphatic Metastasis	Associate	23975372
Lymphoma	Associate	35019856
Lymphoma Large B Cell Diffuse	Associate	35019856
Lymphoma Primary Effusion	Associate	31366879
Malformations of Cortical Development Group I	Associate	36431966
Malignant mesenchymal tumor	Associate	37192160
Malnutrition	Associate	36324122
Melanoma	Associate	25016296, 28380427, 30209241, 33554439, 33586907
Mental Disorders	Associate	37906604
Mesothelioma Malignant	Associate	29921948
Mitochondrial Complex III Deficiency	Associate	25375376
Mitochondrial Diseases	Associate	26771712, 27708226, 33837631, 34285383, 34306318
Mitochondrial Diseases	Stimulate	29698579
Mucositis	Associate	40037075
Multiple Myeloma	Associate	26636288, 30824741, 32070879, 34378191
Multiple Sclerosis	Stimulate	32640422
Myocardial Infarction	Associate	37906604
Myopia	Stimulate	26091066
Myopia	Associate	26351848
Myositis Inclusion Body	Associate	25978849
Neoplasm Metastasis	Associate	31064130, 35615577, 35883579
Neoplasms	Associate	14604972, 22135092, 22915762, 23916134, 24330582, 26565589, 27651314, 28438094, 28553953, 29062139, 29257326, 29716673, 30209241, 30305853, 31211507, 32070879, 32938922, 33582407, 33615565, 33628101, 33782384, 36042628, 37834012, 38553134
Neoplasms	Stimulate	23975372
Neoplasms	Inhibit	30552230
Nerve Degeneration	Associate	28553953
Neuroblastoma	Associate	20667453
Neuroectodermal Tumors	Associate	20022965
Obesity	Associate	30382797, 36170814
Odontogenic Cysts	Stimulate	31424999
Osteoporosis	Stimulate	26091066
Osteosarcoma	Associate	37285835
Ovarian Neoplasms	Associate	35484984
Pancreatic Neoplasms	Associate	33782384, 36416348
Pheochromocytoma	Associate	32571297
Polycystic Ovary Syndrome	Associate	30382797
Postthrombotic Syndrome	Associate	27400471
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26275811, 33741715
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	37280363
Pregnancy Complications	Associate	26648175
Prostatic Neoplasms	Associate	23448667
Psychological Distress	Associate	27651314
Pulmonary Arterial Hypertension	Stimulate	23400395
Pulmonary Disease Chronic Obstructive	Associate	23471465, 38320732
Pulmonary Fibrosis	Associate	36555349
Sarcoma Ewing	Associate	33741715
Sarcoma Kaposi	Associate	36377873
Sarcopenia	Inhibit	38320732
Scleroderma Diffuse	Stimulate	23400395
Squamous Cell Carcinoma of Head and Neck	Stimulate	24964091
Stomach Neoplasms	Associate	22363646, 27708226, 29587440, 30380689, 37192160
Thymoma	Associate	33277874
Thyroid cancer medullary	Associate	25795775, 30552230
Thyroid Neoplasms	Associate	22691366
Triple Negative Breast Neoplasms	Associate	37834012
Urinary Bladder Neoplasms	Associate	25002527
Urinary Incontinence Stress	Stimulate	30426803
Uterine Cervical Neoplasms	Associate	36431966
Varicose Ulcer	Associate	27400471
Wounds and Injuries	Stimulate	36243930