SOX2 (SRY-box transcription factor 2)

Gene

• Entrez ID: 6657
• Gene name: SRY-box transcription factor 2
• Gene symbol: SOX2
• Synonyms (NCBI Gene): ANOP3, MCOPS3
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenanc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005370	hsa-miR-126-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21304604
MIRT005370	hsa-miR-126-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21304604
MIRT005692	hsa-miR-522-3p	Luciferase reporter assay, Western blot	21304604
MIRT000307	hsa-miR-145-5p	FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR	19409607
MIRT000307	hsa-miR-145-5p	FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR	19409607
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006227	hsa-miR-34c-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006223	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006226	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT007030	hsa-miR-140-5p	Luciferase reporter assay	23060440
MIRT007030	hsa-miR-140-5p	Luciferase reporter assay	23060440
MIRT007184	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	23111103
MIRT007184	hsa-miR-429	Luciferase reporter assay, qRT-PCR, Western blot	23111103
MIRT000307	hsa-miR-145-5p	Reporter assay;Western blot;qRT-PCR;Other	19409607
MIRT021924	hsa-miR-128-3p	Reporter assay	19409607
MIRT023259	hsa-miR-122-5p	Microarray	17612493
MIRT030694	hsa-miR-21-5p	Microarray	18591254
MIRT000307	hsa-miR-145-5p	Luciferase reporter assay	23541921
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT053008	hsa-miR-340-5p	qRT-PCR, Western blot	22797059
MIRT030694	hsa-miR-21-5p	Immunoblot, Immunohistochemistry, In situ hybridization, Northern blot, qRT-PCR	22931209
MIRT030694	hsa-miR-21-5p	Immunoblot, Immunohistochemistry, In situ hybridization, Northern blot, qRT-PCR	22931209
MIRT054380	hsa-miR-625-5p	Luciferase reporter assay, qRT-PCR, Western blot	24508466
MIRT054761	hsa-miR-638	Luciferase reporter assay, Immunofluorescence, Western blot, qRT-PCR	24885288
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT000307	hsa-miR-145-5p	qRT-PCR	23312222
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT438929	hsa-miR-1181	Flow, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25444909
MIRT000307	hsa-miR-145-5p	qRT-PCR	23312222
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT005370	hsa-miR-126-3p	Luciferase reporter assay	24384842
MIRT732041	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26159827
MIRT732041	hsa-miR-146a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26159827
MIRT000307	hsa-miR-145-5p	Luciferase reporter assay, qRT-PCR, Western blot	26681767
MIRT054761	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27878280
MIRT054761	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27878280
MIRT030694	hsa-miR-21-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	26558781
MIRT000307	hsa-miR-145-5p	qRT-PCR, Western blot	25928322
MIRT000307	hsa-miR-145-5p	qRT-PCR, Western blot	25928322
MIRT006227	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT053008	hsa-miR-340-5p	Western blotting, RNA-seq, qRT-PCR	32130794
MIRT005370	hsa-miR-126-3p	RNA-seq	33398982
MIRT737437	hsa-miR-590-3p	Western blotting, qRT-PCR, In situ hybridization	31781476
MIRT007184	hsa-miR-429	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	36913084
MIRT755482	hsa-miR-508-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, Immunofluorescence, In situ hybridization, Flow cytometry, RNA pull down assay	35318304
MIRT1380426	hsa-miR-1238	CLIP-seq
MIRT1380427	hsa-miR-1284	CLIP-seq
MIRT1380428	hsa-miR-132	CLIP-seq
MIRT1380429	hsa-miR-212	CLIP-seq
MIRT1380430	hsa-miR-300	CLIP-seq
MIRT1380431	hsa-miR-3124-3p	CLIP-seq
MIRT1380432	hsa-miR-3140-3p	CLIP-seq
MIRT1380433	hsa-miR-3163	CLIP-seq
MIRT1380434	hsa-miR-340	CLIP-seq
MIRT1380435	hsa-miR-381	CLIP-seq
MIRT1380436	hsa-miR-4666-3p	CLIP-seq
MIRT1380437	hsa-miR-4691-5p	CLIP-seq
MIRT1380438	hsa-miR-624	CLIP-seq
MIRT2113903	hsa-miR-1273e	CLIP-seq
MIRT2113904	hsa-miR-182	CLIP-seq
MIRT2113905	hsa-miR-4327	CLIP-seq
MIRT2336862	hsa-miR-518a-5p	CLIP-seq
MIRT2336863	hsa-miR-527	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ID4	Unknown	23613880
KDM2A	Unknown	23872478
POU5F1	Activation	17068183

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18407919
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001649	Process	Osteoblast differentiation	IDA	18187129
GO:0001654	Process	Eye development	IEP	18285410
GO:0001714	Process	Endodermal cell fate specification	IDA	21245162
GO:0003677	Function	DNA binding	IDA	16153702, 18285410, 18407919, 19427902
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	7849401
GO:0003700	Function	DNA-binding transcription factor activity	IDA	16153702, 18027866
GO:0003700	Function	DNA-binding transcription factor activity	NAS	7849401
GO:0005515	Function	Protein binding	IPI	18456656, 19736317, 23667531, 24048479, 24525231, 25416956, 25702638, 27334688, 29358331, 30442713, 31515488
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	16153702
GO:0005634	Component	Nucleus	IDA	17291498, 18027866, 18285410
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7849401
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	TAS	19736317
GO:0005737	Component	Cytoplasm	IDA	18027866
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18000303
GO:0006325	Process	Chromatin organization	NAS	7849401
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	16153702
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	7849401
GO:0007420	Process	Brain development	IBA
GO:0009611	Process	Response to wounding	IEP	17982423
GO:0010468	Process	Regulation of gene expression	IMP	18388306
GO:0016607	Component	Nuclear speck	IEA
GO:0021781	Process	Glial cell fate commitment	NAS	17291498
GO:0021983	Process	Pituitary gland development	IEP	18285410
GO:0021984	Process	Adenohypophysis development	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030900	Process	Forebrain development	IBA
GO:0030900	Process	Forebrain development	IEP	18285410
GO:0035019	Process	Somatic stem cell population maintenance	IDA	19409607
GO:0035019	Process	Somatic stem cell population maintenance	IMP	18388306, 19736317
GO:0035198	Function	MiRNA binding	IDA	18710938
GO:0042246	Process	Tissue regeneration	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	18187129
GO:0043565	Function	Sequence-specific DNA binding	IDA	20713518
GO:0045471	Process	Response to ethanol	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18407919, 29253717
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21245162
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18027866
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048839	Process	Inner ear development	IBA
GO:0048839	Process	Inner ear development	IEP	18407919
GO:0050998	Function	Nitric-oxide synthase binding	IEA
GO:0070848	Process	Response to growth factor	IDA	18187129
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18285410
GO:0090649	Process	Response to oxygen-glucose deprivation	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:1902807	Process	Negative regulation of cell cycle G1/S phase transition	IDA	18268498
GO:1904520	Process	Regulation of myofibroblast cell apoptotic process	IEA

Other IDs

• MIM: 184429
• HGNC: 11195
• e!Ensembl: ENSG00000181449

Protein

• UniProt ID: P48431
• Protein name: Transcription factor SOX-2
• Protein function: Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Binds to the proximal enhancer region of
• PDB: 1O4X, 2LE4, 6T7B, 6T90, 6WX7, 6WX8, 6WX9, 6YOV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	41 → 109	HMG (high mobility group) box	Domain
  PF12336	SOXp	110 → 200	SOX transcription factor	Family

• Sequence:

  MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMA
  QENPKMHNSEISKRLGAEWKLLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLM
  KKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSYAHMNGWSNGSYSMMQDQLGY
  PQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
  GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQS
  GPVPGTAINGTLPLSHM

• Sequence length: 317

Pathways

KEGG:

Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells

Reactome:

POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Deactivation of the beta-catenin transactivating complex
Transcriptional regulation of pluripotent stem cells
Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anophthalmia	Pathogenic	rs2108522679, rs2473717674	RCV002291321 RCV002291331
Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic; Likely pathogenic	rs398123693, rs1714847764, rs2108522652, rs2108521702, rs2108522196, rs2108522646, rs2108522776, rs2108523389, rs2108522189, rs2473717602, rs2473718812, rs2473718342, rs398122803, rs55683010, rs2108522980, rs104893799, rs104893800, rs104893801, rs104893802, rs104893803, rs104893804, rs104893805, rs104893806, rs587776776, rs2473718027, rs2108521935, rs2473716682, rs2473717246, rs2473719100, rs2473720054, rs1560264167, rs387906688, rs1553862958, rs1553862971, rs398122915, rs398122916, rs1553862927, rs771521201, rs1560264973, rs1560264395, rs1560264452, rs1714833474, rs750091101, rs1714843059, rs1714851160, rs1714839412, rs1714831656, rs1273721978, rs1714837282, rs1714842576, rs1560264293, rs1260218988, rs761248518, rs1714858949, rs1714861042, rs1714861435, rs1714864777, rs1714865486, rs1714875635, rs1714882477, rs1714883683, rs1714883776, rs1208628241	RCV001067610 RCV001342057 RCV001375935 RCV001388674 RCV001706841 RCV001884077 RCV001972593 RCV002226906 RCV002274418 RCV002289371 RCV002814358 RCV002904236 RCV003030830 RCV002307477 RCV001387936 RCV003333358 RCV000013662 RCV000013663 RCV000013664 RCV000013665 RCV000013666 RCV000013668 RCV000013669 RCV000013670 RCV000013676 RCV003515841 RCV003515806 RCV003628038 RCV003628445 RCV003883319 RCV004566404 RCV004577418 RCV000022771 RCV000022772 RCV000536949 RCV000551841 RCV000033025 RCV000033026 RCV002307563 RCV000644035 RCV000686087 RCV000705815 RCV000700513 RCV000735864 RCV001065976 RCV001061085 RCV001218665 RCV001226732 RCV001253803 RCV001267860 RCV001267865 RCV001267868 RCV001267869 RCV001267854 RCV001267861 RCV001267855 RCV001267864 RCV001267859 RCV001267867 RCV001267866 RCV001267858 RCV001267863 RCV001267857 RCV001267853 RCV001267870 RCV001267862 RCV001269466
Chorioretinal coloboma	Likely pathogenic	rs2108521642	RCV002291354
Developmental disorder	Likely pathogenic; Pathogenic	rs1249553271	RCV001843562
Intellectual disability	Pathogenic	rs771521201	RCV005626133
Microphthalmia	Pathogenic	rs2473717120	RCV002291355
Septo-optic dysplasia sequence	Pathogenic	rs398123693	RCV002293417
SOX2-related disorder	Pathogenic; Likely pathogenic	rs398123693, rs2473717827	RCV004549501 RCV004550639

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Amenorrhea	Conflicting classifications of pathogenicity	rs727504169	RCV001849322
Cataract - microcornea syndrome	not provided	rs2108522086	RCV004597217
Optic nerve hypoplasia and abnormalities of the central nervous system	Conflicting classifications of pathogenicity; Uncertain significance	rs121918652, rs104893808	RCV000013673 RCV000013674

Associations from Text Mining
Disease Name	Relationship Type	References
46 XX Testicular Disorders of Sex Development	Associate	29371155
Abnormalities Drug Induced	Associate	21326281
Acidosis	Stimulate	30466459
Acidosis	Associate	32900990
Adenocarcinoma	Associate	22748473, 24299561, 28692180, 32930122, 35476812, 40198732
Adenocarcinoma of Lung	Associate	20631605, 21623236, 22529186, 27496649, 28259951, 29596469, 31059077, 32170113, 36810856
Adenoma	Associate	30587606
Adenomyosis	Associate	39595532
Adrenoleukodystrophy	Associate	29065337
Agenesis of Corpus Callosum	Associate	18285410
Alzheimer Disease	Associate	27298190, 29753274, 31401456, 31698192
Ameloblastoma	Associate	31967981, 36655039
Anemia Iron Deficiency	Associate	25943891
Ankyloglossia	Associate	32674684
Anophthalmia with pulmonary hypoplasia	Associate	19921648, 20454695, 21326281, 23701296
Anophthalmos	Associate	17522144, 18285410, 18385794, 18831064, 19471311, 19921648, 20454695, 20486942, 21203406, 21326281, 22171155, 22204637, 28659543, 29371155, 34562068, 35170016, 40280197
Anterior segment mesenchymal dysgenesis	Associate	20454695
Astrocytoma	Associate	23613880, 30248046
Atresia of small intestine	Associate	33103210
Autism Spectrum Disorder	Associate	34438162
Barrett Esophagus	Associate	27766003, 35476812
beta Thalassemia	Associate	32278313
Bipolar Disorder	Associate	26433762
Brain Diseases	Associate	18831064, 34562068, 37017197
Brain Injuries Traumatic	Stimulate	21275797
Brain Neoplasms	Associate	22937156, 37017197
Breast Neoplasms	Associate	17334350, 21276239, 22419067, 23060440, 23796710, 23815808, 23974095, 23982413, 24885403, 25127259, 25380620, 26460550, 27579892, 28422735, 28423718, 28590426, 28835684, 30622340, 30710426, 30927330, 31462898, 31853860, 32191225, 32576581, 33103351, 34076991, 34567804, 35966598, 36654075, 37549026, 37768037, 38031089, 40674376
Breast Neoplasms	Stimulate	26001828, 27340107
Bronchial Diseases	Associate	28199128
Calcinosis Cutis	Associate	32169072
Carcinogenesis	Inhibit	18268498
Carcinogenesis	Associate	20372069, 21276239, 21304604, 22168803, 22615765, 23895273, 24482053, 24659665, 24937695, 25704506, 26159849, 28260055, 28692180, 29596469, 29720137, 32144236, 32873880, 35318304, 35332266, 35415876, 36701842, 37213675, 37967508, 39986058
Carcinogenesis	Stimulate	38308202
Carcinoid Tumor	Associate	33398982
Carcinoma Adenoid Cystic	Associate	24828201, 31113740
Carcinoma Basal Cell	Associate	23599161
Carcinoma Embryonal	Stimulate	17970049
Carcinoma Embryonal	Associate	17993720, 19876845, 25156079, 34153645, 35008480, 36713456, 37254618
Carcinoma Hepatocellular	Inhibit	22429493
Carcinoma Hepatocellular	Associate	24944491, 26420065, 26540347, 27050147, 27728962, 27894081, 28960757, 30677218, 31127852, 33112555, 34436030, 35236826, 35332266, 35465267, 36147467
Carcinoma Hepatocellular	Stimulate	35080329
Carcinoma in Situ	Associate	19876845
Carcinoma Intraductal Noninfiltrating	Associate	21276239
Carcinoma Large Cell	Associate	30978501
Carcinoma Merkel Cell	Associate	31527246, 34667274
Carcinoma Merkel Cell	Stimulate	34593967
Carcinoma Mucoepidermoid	Associate	28262804
Carcinoma Non Small Cell Lung	Associate	22837720, 23620753, 24736592, 26297432, 26536195, 26780934, 27528220, 30322398, 32930122, 34633989, 35059870, 35415876, 35467477, 36069232, 36082356, 36701842, 37038139, 37213675, 37524903, 38057344
Carcinoma Ovarian Epithelial	Associate	25038052, 26198101, 27489349, 36247876
Carcinoma Pancreatic Ductal	Associate	32998722
Carcinoma Renal Cell	Inhibit	21982273
Carcinoma Renal Cell	Associate	31420918
Carcinoma Small Cell	Associate	28106103, 33789601, 33888337, 34911496, 36008402
Carcinoma Squamous Cell	Associate	19801978, 20126410, 20372069, 21460799, 21623236, 22748473, 23451093, 23544055, 23599161, 23620753, 24128716, 24299561, 24346092, 24590290, 24710660, 24736592, 25384882, 26030731, 26464673, 26499463, 27145277, 27775076, 28052061, 28678184, 28719033, 28862264, 29596469, 29866045, 30487219, 30978501, 31444787, 31551362, 31968252, 32644288, 32992230, 36243874, 36357817
Carcinoma Squamous Cell	Stimulate	20161759, 24659665, 24966958, 25935536, 35945296
Cataract	Associate	20454695, 35148715
Cataract microcornea syndrome	Associate	35148715
Cell Transformation Neoplastic	Stimulate	20126410
Cell Transformation Neoplastic	Associate	27816521
Charcot Marie Tooth Disease	Associate	29034895
Cholangiocarcinoma	Associate	24482053
Choroideremia	Associate	36395688
Chromosomal Instability	Associate	40149431
Coloboma	Associate	28659543
Coloboma of optic nerve	Associate	19471311
Colonic Diseases	Associate	37384399
Colonic Neoplasms	Associate	32428045
Colorectal Neoplasms	Associate	22168803, 24885288, 25010701, 25340937, 25906747, 26707141, 27411517, 28710230, 30518951, 31641225, 32144236, 32900990, 33434524, 33445526, 33823840, 34697986, 34833970, 37457497, 37524903, 38044399
Colorectal Neoplasms	Inhibit	27983919
Congenital Abnormalities	Associate	20454695, 21712996, 33719903
Congenital contractural arachnodactyly	Associate	35864972
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	17389240
Creatine deficiency X linked	Inhibit	37830910
Cryptorchidism	Associate	23025704, 29371155
Cystic Fibrosis	Associate	35843019, 36067639
Cytomegalovirus Infections	Inhibit	29950413
Death	Associate	23620753
Death	Inhibit	26706028
Developmental Disabilities	Associate	33719903, 36581364
Diabetes Mellitus Type 1	Associate	20667095
Diabetes Mellitus Type 2	Associate	23306198, 37028179
Diabetic Nephropathies	Associate	20667095
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	31902091
Diffuse Intrinsic Pontine Glioma	Associate	24076776
Disease	Associate	35038823
Down Syndrome	Associate	32819430, 33220594, 34050678
Dwarfism Pituitary	Associate	34562068, 36581364
Dysplastic Nevus Syndrome	Associate	28199128, 28862264
Encephalocele	Stimulate	23979878
Encephalomyelitis Equine	Associate	30404192
Endodermal Sinus Tumor	Associate	23114647
Endometrial Neoplasms	Associate	21851624, 26339387, 30510261, 30935961, 35318304, 39888143
Endometrial Neoplasms	Stimulate	24884521
Endometriosis	Associate	20850729, 24884521
Ependymoma	Associate	31956038
Epilepsy	Associate	28659543
Esophageal atresia with or without tracheoesophageal fistula	Associate	32641753
Esophageal Neoplasms	Associate	22748473, 24508466, 28862264, 35382656
Esophageal Neoplasms	Stimulate	26001828
Esophageal Squamous Cell Carcinoma	Associate	17522144, 19414369, 19801978, 24105929, 26370982, 26464673, 26465158, 28862264, 32662828, 36131361, 36418920, 36717549, 37744275
Esophageal Squamous Cell Carcinoma	Stimulate	25704506
Esophagitis	Associate	19801978, 27766003
Eunuchoidism familial hypogonadotropic	Associate	34562068
Eye Abnormalities	Associate	17522144, 18285410, 19471311, 19641633, 19921648, 21919124, 29371155
Eye Diseases	Associate	19641633, 20454695, 23701296
Eye Infections	Associate	17522144
Fabry Disease	Associate	36917862
Familial cylindromatosis	Stimulate	26336083
Familial cylindromatosis	Associate	26339387
Familial Testotoxicosis	Inhibit	30587606
Fatty Liver	Associate	27789406, 27789412
Feeding and Eating Disorders	Associate	26433762
Fetal Growth Retardation	Stimulate	26914354
Fibroma	Associate	26121316
Fibroma	Stimulate	34261507
Focal cortical dysplasia of Taylor	Associate	20613634
Fused Kidney	Associate	17522144
Gallbladder Neoplasms	Associate	26318430
Gastroesophageal Reflux	Associate	27766003
Gastrointestinal Neoplasms	Associate	25704506
Glaucoma 3 Primary Congenital A	Associate	29453128
Glioblastoma	Associate	20383808, 21211035, 22069467, 22937156, 24131927, 24601786, 24726434, 25328136, 25787115, 25832504, 26138445, 26681767, 26983719, 27852622, 28208648, 28424427, 28465359, 28656196, 28677106, 29773872, 29849920, 30158599, 30497369, 31534165, 31956038, 32092088, 32234828, 32439916, 32492707, 33762574, 33924599, 34021259, 34072831, 34282187, 34470582, 34953010, 35701472, 36292985, 36333778, 36980184, 37524903, 37551745, 38267500, 40422249
Glioma	Associate	17375044, 21211035, 22069467, 24552705, 25328136, 26755664, 27909726, 28620836, 30053878, 30320350, 30403311, 31718604, 32246865, 32507767, 32788236, 34645618, 36231068, 36348001, 37063420, 37614011
Glioma	Stimulate	26001828
Glycogen Storage Disease IIIA	Associate	30269021
Glycogen Storage Disease Type V	Associate	28925366
Granulosa cell tumor of the ovary	Associate	27132888
Growth and Developmental Retardation Ocular Ptosis Cardiac Defect and Anal Atresia	Associate	19471311
Growth Hormone Secreting Pituitary Adenoma	Associate	30587606
HAIR AN syndrome	Associate	32197467
Head and Neck Neoplasms	Associate	29596469, 30275505, 32019273
Hearing Loss	Associate	33719903
Heart Neoplasms	Associate	28046028
Helicobacter Infections	Associate	18938748
Hepatitis B	Associate	32191225
Hereditary Breast and Ovarian Cancer Syndrome	Associate	40009831
Hirschsprung Disease	Associate	21712996, 33683746, 37384399
Hyperlipoproteinemia Type II	Associate	20613634
Hyperopia	Associate	20454695
Hyperplasia	Stimulate	30487219
Hyperplasia	Associate	36170598
Hypogonadism	Associate	18285410, 21326281, 28659543, 29371155
Hypopituitarism	Associate	18285410, 21919124
Hypospadias	Associate	29371155
Hypoxia	Stimulate	21712410, 31462898, 37768037
Hypoxia	Associate	27489349, 33762574, 36082356
Hypoxia Brain	Stimulate	22642602
Hypoxia Brain	Associate	27489349, 31462898
Immunologic Deficiency Syndromes	Inhibit	30587606
Infections	Stimulate	28794048
Inflammation	Associate	35059465, 35674016, 36932385
Intellectual Disability	Associate	34562068
Intervertebral Disc Degeneration	Inhibit	35266272
Intestinal Diseases	Associate	38221567
Iris Diseases	Associate	20454695
Kallmann Syndrome	Associate	31628846
Kidney Diseases	Associate	20667095, 22613719
Laryngeal Neoplasms	Associate	24833089, 26001828, 28122350
Leigh Disease	Associate	27345786, 31017045
Leukemia	Associate	26838251, 28718379
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32780298
Leukemia Myeloid Acute	Associate	28359056, 28718379
Liver Failure	Associate	35236826
Liver Neoplasms	Associate	35236826
Lung Diseases	Associate	19801978, 26526583
Lung Neoplasms	Associate	22615765, 22837720, 23683495, 25686219, 26035432, 26780934, 28259951, 28849055, 28960757, 30674935, 30867047, 33433063, 35059870, 36082356, 36142846, 37524903
Lung Neoplasms	Stimulate	26001828
Lymphatic Diseases	Associate	28862264
Lymphatic Metastasis	Associate	22168803, 24482053, 25686823, 26540632, 28002801
Lymphatic Metastasis	Inhibit	26464673
Lymphatic Metastasis	Stimulate	29956740
Lymphoma	Associate	27911272
Lymphoma Large Cell Anaplastic	Associate	29609590
Lymphoma Non Hodgkin	Associate	31718604, 34452555, 35476812
Machado Joseph Disease	Associate	27346190, 27346191
Medulloblastoma	Associate	22937156, 31956038, 32998722
Melanoma	Associate	22899289, 25642713, 25953317, 27373978, 29778085, 30466459, 35737114, 36899895
Meningioma	Associate	15983380, 29368320, 36232992
Meningomyelocele	Inhibit	23979878
Mesothelioma Malignant	Associate	23886156, 35794237
Microphthalmos	Associate	17522144, 18285410, 18385794, 18831064, 19921648, 20454695, 21326281, 22204637, 23701296, 28659543, 33719903, 34562068
Midline granulomatosis	Associate	24736545
Mitochondrial Diseases	Associate	31017045
Mixed Tumor Mullerian	Associate	22401770
Monoclonal Gammopathy of Undetermined Significance	Associate	17389240, 22190969
Mouth Diseases	Associate	35945296
Mouth Neoplasms	Associate	25722113, 28862264, 30453543, 34092609, 36170598
Mucopolysaccharidosis VI	Associate	38006675
Multiple Myeloma	Associate	22190969, 28270494, 33757979, 35414790
Multiple Myeloma	Inhibit	26468228
Multiple Sclerosis	Associate	36744877
Multiple Sclerosis Chronic Progressive	Inhibit	36744877
Myoclonic Epilepsies Progressive	Associate	31374462
Myofibrillar Myopathy	Associate	37748332
Myopathies Structural Congenital	Associate	24883329
Myositis Ossificans	Associate	37307755
N syndrome	Associate	21487519
Nasopharyngeal Carcinoma	Associate	20211102, 23424657, 30141114, 32894547, 32971057, 37658588, 37967508
Necrosis	Associate	30403311
Neoplasm Invasiveness	Inhibit	21460799
Neoplasm Metastasis	Associate	21460799, 24828201, 24833089, 24842609, 25010701, 25761220, 26001828, 26370982, 28046028, 29787607, 32092088, 32507767, 33008833, 35048635, 35614407, 35737114, 36701842, 36838824, 37614011, 37658588, 37957698
Neoplasm Metastasis	Stimulate	22168803, 35067686
Neoplasm Metastasis	Inhibit	26464673
Neoplasms	Associate	17334350, 17389240, 18268498, 18443585, 19268426, 19414369, 19801978, 20081809, 20382729, 20631605, 21276239, 21460799, 21487519, 22390279, 22401770, 22511756, 22529186, 22615765, 22837720, 22847005, 22899289, 22899292, 22928007, 22937156, 22989882, 23060121, 23424657, 23544055, 23620753, 23796710, 23921511, 23969837, 23974095, 24076776, 24105929, 24128716, 24199791, 24346092, 24376714, 24384842, 24482053, 24489842, 24577057, 24659665, 24710660, 24828201, 24838270, 24842609, 24883329, 25156079, 25340937, 25380620, 25531390, 25722113, 25761220, 25832504, 25970776, 25994056, 26001828, 26040764, 26040981, 26107817, 26198101, 26339387, 26499463, 26539911, 26540632, 26619025, 26780934, 26983719, 27411517, 27464948, 27489349, 27987372, 28046028, 28095111, 28199128, 28241425, 28262804, 28422735, 28620836, 28692180, 28700423, 28835684, 28862264, 28925404, 28960757, 29158570, 29214774, 29426374, 29523123, 29596469, 29741610, 29777148, 29849920, 30248046, 30372446, 30403311, 30453543, 30466459, 30487219, 30510261, 30518951, 30579251, 30587606, 30610795, 30622340, 30710426, 30806068, 30867047, 31113740, 31166600, 31427232, 31462898, 31527246, 31551362, 31587305, 31669571, 31781476, 31902091, 31968252, 32019273, 32092088, 32130794, 32144236, 32191225, 32454055, 32507767, 32541667, 32576581, 32894547, 32900990, 32930122, 33000206, 33008481, 33008833, 33009488, 33039867, 33112555, 33128255, 33222917, 33245508, 33251771, 33339129, 33433063, 33445526, 33513805, 33578097, 33607458, 33762574, 33895495, 33925224, 34107469, 34211078, 34214170, 34261507, 34285085, 34287231, 34358469, 34435915, 34436017, 34436030, 34753802, 34833970, 34911496, 34953010, 35087134, 35151345, 35296132, 35302657, 35625596, 35687666, 35864972, 36216793, 36232992, 36293387, 36333778, 36402751, 36418920, 36566021, 36654075, 36810856, 36867945, 36879084, 36932385, 37169162, 37213675, 37457497, 37524903, 37549026, 37614011, 37950728, 37967508, 38050242, 38096163, 38115290, 39251710, 39796130, 39888143, 40149431, 40243470, 40456627
Neoplasms	Inhibit	20500513, 21211035, 21982273, 23895273, 24763828, 24937695, 26706028, 31244283, 32998722, 36038612
Neoplasms	Stimulate	22419067, 25024430, 25328136, 25935536, 29956740, 35415876, 40674376
Neoplasms Basal Cell	Associate	17334350
Neoplasms Cystic Mucinous and Serous	Associate	22401770
Neoplasms Germ Cell and Embryonal	Associate	17970049, 17993720, 19396148, 27132888, 34153645
Neoplasms Squamous Cell	Associate	19414369, 20299530, 21460799, 24833089, 25531390, 26323639, 28199128, 28700423, 34880227
Neural Tube Defects	Inhibit	23979878
Neurilemmoma	Associate	33222917
Neuroblastoma	Associate	19458492, 29158813, 29203817, 32092088
Neuroendocrine Tumors	Stimulate	31587305
Neuronal intranuclear inclusion disease	Associate	35772299
Niemann Pick Disease Type C	Associate	28578005
Obesity	Associate	34214899
Odontogenic Cysts	Associate	31967981, 34261507
Odontoma	Associate	39365497
Olivopontocerebellar Atrophies	Associate	22301348
Ornithine Carbamoyltransferase Deficiency Disease	Associate	33550136
Osteoarthritis	Inhibit	29409014
Osteoarthritis	Associate	32144293
Osteoporosis	Associate	38509680
Osteosarcoma	Associate	22870217, 25832504, 28260055, 28960757, 36071872, 37957698
Otofaciocervical Syndrome	Associate	32574564
Ovarian Diseases	Associate	23874550, 24884521, 27489349
Ovarian Neoplasms	Associate	22401770, 22642602, 23895273, 24937695, 26159849, 26198101, 27489349, 27492892, 27819360, 30468460, 31610800, 32169072, 35302657, 37087023, 40301365
Ovarian Neoplasms	Stimulate	26001828
Pancreatic Neoplasms	Stimulate	26001828, 36232741
Pancreatic Neoplasms	Associate	29574322, 30365057
Paraproteinemias	Associate	17389240
Parkinson Disease	Associate	22179105, 38615589
Penile Diseases	Associate	29371155
Personality Disorders	Associate	28422735, 32427884, 36932385
Peters anomaly	Associate	35170016
Peutz Jeghers Syndrome	Associate	39603093
Pituitary Diseases	Associate	18285410, 21326281, 29371155
Pituitary Neoplasms	Associate	21919124, 30587606, 36750863
Postoperative Cognitive Complications	Inhibit	36977205
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35488386
Prodromal Symptoms	Associate	28692180
Prolactinoma	Associate	30587606
Prostatic Neoplasms	Associate	22469032, 25686823, 27816521, 28059768, 30806068, 32998722, 35067686, 35908276, 35986103, 37169162
Prostatic Neoplasms	Inhibit	26540632
Prostatic Neoplasms	Stimulate	32146726
Prostatic Neoplasms Castration Resistant	Associate	35491356
Prostatic stromal proliferation of uncertain malignant potential	Associate	36170598
Prostatitis	Associate	26540632
Pupil Disorders	Associate	20454695
Rectal Neoplasms	Associate	29214774
Retinal Dysplasia	Associate	28199128
Retinal Dysplasia	Stimulate	30487219
Retinal Dystrophies	Associate	17522144
Retinitis Pigmentosa	Associate	23197854, 28677533, 30092450, 34034222
Retinoblastoma	Associate	26619025, 27879208, 28076568, 34583623
Rett Syndrome	Associate	21807996, 38100910
Rhabdoid Tumor	Associate	27941797
Rhabdomyosarcoma	Stimulate	33372065
Rhabdomyosarcoma Embryonal	Associate	28923841
Sarcoma	Associate	26121316
Sarcoma Ewing	Associate	26121316, 31427232
Sarcoma Synovial	Associate	37193761
Schizophrenia	Associate	34969953
Seizures	Associate	34562068
Seminoma	Associate	17993720, 27132888, 34153645, 36713456
Septo Optic Dysplasia	Associate	20949537, 35885948, 36581364
Sinonasal undifferentiated carcinoma	Associate	23544055
Small Cell Lung Carcinoma	Associate	10760287, 15880380, 22941189, 24294370, 31446534, 32130794, 33607458, 34107469, 35641209, 36377249, 36810856
Small Cell Lung Carcinoma	Stimulate	28106103
Squamous Cell Carcinoma of Head and Neck	Associate	20937145, 22847005, 23451093, 24533098, 24883329, 26001828, 26040764, 26040981, 26464673, 28002801, 28719033, 29374236, 29596469, 29741610, 29956740, 30527240, 31093971, 31508790, 31902091, 32783291, 33510132, 33513805, 34285085, 34435915, 37716475, 38096163
Squamous Cell Carcinoma of Head and Neck	Stimulate	25379016, 30143678
Squamous Cell Carcinoma of Head and Neck	Inhibit	31244283
Squamous Intraepithelial Lesions	Associate	32644288
Squamous Intraepithelial Lesions of the Cervix	Associate	32644288
Stomach Neoplasms	Inhibit	18268498, 31669571
Stomach Neoplasms	Associate	18938748, 19520737, 21304604, 21487519, 23229446, 24763828, 25300947, 27015119, 28046028, 28960757, 31037832, 34060205, 37306240, 38012281, 39293524, 40149431
Tarlov Cysts	Inhibit	33009929
Teratocarcinoma	Associate	25761220
Teratoma	Associate	17464316, 19396148
Tertiary Lymphoid Structures	Stimulate	22168803
Tertiary Lymphoid Structures	Associate	30510261
Tertiary Lymphoid Structures	Inhibit	31244283
Testicular Germ Cell Tumor	Associate	25761220, 33224314
Thyroid Carcinoma Anaplastic	Associate	23301671, 31922212, 34184083
Tongue Neoplasms	Associate	27464948
Triple Negative Breast Neoplasms	Associate	28590426, 35711895, 39271768
Tuberous Sclerosis 1	Associate	22870217
Urethral Neoplasms	Associate	37298099
Urinary Bladder Neoplasms	Associate	27369080, 27456363, 30518951, 31243344, 32427884, 36045117, 36293387
Urogenital Abnormalities	Associate	29371155, 34562068
Urologic Neoplasms	Associate	22899292
Uterine Cervical Dysplasia	Stimulate	35945296
Uterine Cervical Neoplasms	Associate	24489842, 26706028, 29777148, 30150594, 31365524, 32286144
Uterine Cervical Neoplasms	Stimulate	25935536, 30791957
Uterine Cervicitis	Inhibit	25935536
Uterine Cervicitis	Associate	26706028
Uveal Diseases	Associate	33719903
Vagina absence of	Associate	29371155
Venous Thromboembolism	Associate	33388092
Vitamin D Deficiency	Associate	32641753
Vulvar Neoplasms	Associate	28700423
Zika Virus Infection	Associate	31956038