Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6721
Gene name	Sterol regulatory element binding transcription factor 2
Gene symbol	SREBF2
Synonyms (NCBI Gene)	SREBP-2SREBP2bHLHd2
Chromosome	22
Chromosome location	22q13.2
Summary	This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) do

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018283	hsa-miR-335-5p	Microarray	18185580
MIRT050003	hsa-miR-28-5p	CLASH	23622248
MIRT049508	hsa-miR-92a-3p	CLASH	23622248
MIRT043540	hsa-miR-331-3p	CLASH	23622248
MIRT037293	hsa-miR-877-5p	CLASH	23622248
MIRT054226	hsa-miR-128-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23990020
MIRT438068	hsa-miR-185-5p	Luciferase reporter assayqRT-PCRWestern blot	23951060
MIRT438067	hsa-miR-342-3p	Luciferase reporter assayqRT-PCRWestern blot	23951060
MIRT438068	hsa-miR-185-5p	Luciferase reporter assayqRT-PCRWestern blot	23951060
MIRT438067	hsa-miR-342-3p	Luciferase reporter assayqRT-PCRWestern blot	23951060
MIRT467167	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT467166	hsa-miR-4688	PAR-CLIP	23592263
MIRT467165	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT467164	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT467163	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT467162	hsa-miR-3937	PAR-CLIP	23592263
MIRT467160	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT467161	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT467159	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT438068	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT467158	hsa-miR-4306	PAR-CLIP	23592263
MIRT467157	hsa-miR-4644	PAR-CLIP	23592263
MIRT467156	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT467155	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT467154	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT467153	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT467152	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT467151	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT467150	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT467149	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT467148	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT467147	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT467146	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT467145	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT443801	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT443800	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT443799	hsa-miR-5692a	PAR-CLIP	22100165
MIRT443798	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT439546	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439546	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT438068	hsa-miR-185-5p	Luciferase reporter assayqRT-PCRWestern blot	25914460
MIRT050003	hsa-miR-28-5p	Luciferase reporter assayWestern blottingqRT-PCR	32028704
MIRT467167	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT467166	hsa-miR-4688	PAR-CLIP	23592263
MIRT467165	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT467164	hsa-miR-6504-3p	PAR-CLIP	23592263
MIRT467163	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT467162	hsa-miR-3937	PAR-CLIP	23592263
MIRT467160	hsa-miR-7112-5p	PAR-CLIP	23592263
MIRT467161	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT467159	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT438068	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT467158	hsa-miR-4306	PAR-CLIP	23592263
MIRT467157	hsa-miR-4644	PAR-CLIP	23592263
MIRT467156	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT467155	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT467154	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT467153	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT467152	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT467151	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT467150	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT467149	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT467148	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT467147	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT467146	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT467145	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT443801	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT443800	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT443799	hsa-miR-5692a	PAR-CLIP	22100165
MIRT443798	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT1387997	hsa-miR-1224-3p	CLIP-seq
MIRT1387998	hsa-miR-1226	CLIP-seq
MIRT1387999	hsa-miR-1236	CLIP-seq
MIRT1388000	hsa-miR-1260	CLIP-seq
MIRT1388001	hsa-miR-1260b	CLIP-seq
MIRT1388002	hsa-miR-1280	CLIP-seq
MIRT1388003	hsa-miR-2277-3p	CLIP-seq
MIRT1388004	hsa-miR-2355-5p	CLIP-seq
MIRT1388005	hsa-miR-324-5p	CLIP-seq
MIRT1388006	hsa-miR-365	CLIP-seq
MIRT1388007	hsa-miR-3653	CLIP-seq
MIRT1388008	hsa-miR-4286	CLIP-seq
MIRT1388009	hsa-miR-4313	CLIP-seq
MIRT1388010	hsa-miR-4639-3p	CLIP-seq
MIRT1388011	hsa-miR-4650-5p	CLIP-seq
MIRT1388012	hsa-miR-532-3p	CLIP-seq
MIRT1554145	hsa-miR-185	CLIP-seq
MIRT1554146	hsa-miR-3175	CLIP-seq
MIRT1554147	hsa-miR-3184	CLIP-seq
MIRT1554148	hsa-miR-423-5p	CLIP-seq
MIRT1554149	hsa-miR-4663	CLIP-seq
MIRT1554150	hsa-miR-4716-3p	CLIP-seq
MIRT1554151	hsa-miR-4723-5p	CLIP-seq
MIRT1554152	hsa-miR-4728-3p	CLIP-seq
MIRT1554153	hsa-miR-539	CLIP-seq
MIRT1554145	hsa-miR-185	CLIP-seq
MIRT2116248	hsa-miR-1913	CLIP-seq
MIRT2116249	hsa-miR-324-3p	CLIP-seq
MIRT1388005	hsa-miR-324-5p	CLIP-seq
MIRT2116250	hsa-miR-4264	CLIP-seq
MIRT1388010	hsa-miR-4639-3p	CLIP-seq
MIRT1388011	hsa-miR-4650-5p	CLIP-seq
MIRT2116251	hsa-miR-4704-3p	CLIP-seq
MIRT1554152	hsa-miR-4728-3p	CLIP-seq
MIRT1387997	hsa-miR-1224-3p	CLIP-seq
MIRT1387998	hsa-miR-1226	CLIP-seq
MIRT2338775	hsa-miR-125a-3p	CLIP-seq
MIRT1388000	hsa-miR-1260	CLIP-seq
MIRT1388001	hsa-miR-1260b	CLIP-seq
MIRT1388002	hsa-miR-1280	CLIP-seq
MIRT2338776	hsa-miR-1292	CLIP-seq
MIRT1554145	hsa-miR-185	CLIP-seq
MIRT2116248	hsa-miR-1913	CLIP-seq
MIRT2338777	hsa-miR-1915	CLIP-seq
MIRT2338778	hsa-miR-193a-3p	CLIP-seq
MIRT2338779	hsa-miR-193b	CLIP-seq
MIRT2338780	hsa-miR-1972	CLIP-seq
MIRT1388003	hsa-miR-2277-3p	CLIP-seq
MIRT2338781	hsa-miR-24	CLIP-seq
MIRT2338782	hsa-miR-2681	CLIP-seq
MIRT2338783	hsa-miR-3120-3p	CLIP-seq
MIRT2338784	hsa-miR-3123	CLIP-seq
MIRT2338785	hsa-miR-3136-3p	CLIP-seq
MIRT1554146	hsa-miR-3175	CLIP-seq
MIRT2338786	hsa-miR-3176	CLIP-seq
MIRT1554147	hsa-miR-3184	CLIP-seq
MIRT2338787	hsa-miR-3194-3p	CLIP-seq
MIRT2116249	hsa-miR-324-3p	CLIP-seq
MIRT2338788	hsa-miR-342-5p	CLIP-seq
MIRT2338789	hsa-miR-3665	CLIP-seq
MIRT2338790	hsa-miR-3677-5p	CLIP-seq
MIRT2338791	hsa-miR-3922-3p	CLIP-seq
MIRT2338792	hsa-miR-3936	CLIP-seq
MIRT2338793	hsa-miR-3945	CLIP-seq
MIRT1554148	hsa-miR-423-5p	CLIP-seq
MIRT2338794	hsa-miR-4253	CLIP-seq
MIRT2116250	hsa-miR-4264	CLIP-seq
MIRT2338795	hsa-miR-4270	CLIP-seq
MIRT2338796	hsa-miR-4283	CLIP-seq
MIRT2338797	hsa-miR-4441	CLIP-seq
MIRT2338798	hsa-miR-4470	CLIP-seq
MIRT2338799	hsa-miR-4477b	CLIP-seq
MIRT2338800	hsa-miR-4481	CLIP-seq
MIRT1388011	hsa-miR-4650-5p	CLIP-seq
MIRT1554149	hsa-miR-4663	CLIP-seq
MIRT2338801	hsa-miR-4664-5p	CLIP-seq
MIRT2116251	hsa-miR-4704-3p	CLIP-seq
MIRT1554150	hsa-miR-4716-3p	CLIP-seq
MIRT1554151	hsa-miR-4723-5p	CLIP-seq
MIRT1554152	hsa-miR-4728-3p	CLIP-seq
MIRT2338802	hsa-miR-4736	CLIP-seq
MIRT2338803	hsa-miR-4745-5p	CLIP-seq
MIRT2338804	hsa-miR-4758-5p	CLIP-seq
MIRT1388012	hsa-miR-532-3p	CLIP-seq
MIRT1554153	hsa-miR-539	CLIP-seq
MIRT2338805	hsa-miR-542-3p	CLIP-seq
MIRT2338806	hsa-miR-548v	CLIP-seq
MIRT2338807	hsa-miR-646	CLIP-seq
MIRT2338808	hsa-miR-663b	CLIP-seq
MIRT2338809	hsa-miR-760	CLIP-seq
MIRT2338777	hsa-miR-1915	CLIP-seq
MIRT2632217	hsa-miR-1291	CLIP-seq
MIRT2632218	hsa-miR-3183	CLIP-seq
MIRT2632219	hsa-miR-3619-3p	CLIP-seq
MIRT2632220	hsa-miR-3690	CLIP-seq
MIRT2338793	hsa-miR-3945	CLIP-seq
MIRT2338794	hsa-miR-4253	CLIP-seq
MIRT2632221	hsa-miR-4308	CLIP-seq
MIRT2632222	hsa-miR-4715-3p	CLIP-seq
MIRT2632223	hsa-miR-4723-3p	CLIP-seq
MIRT2632224	hsa-miR-4733-3p	CLIP-seq
MIRT2632225	hsa-miR-4776-5p	CLIP-seq
MIRT2632226	hsa-miR-591	CLIP-seq

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Transcription factor	Regulation	Reference
PPARA	Repression	16946405

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15358760
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19098903
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000247	Function	C-8 sterol isomerase activity	IDA	12941800
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	15358760
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	12177166, 32322062, 38503280
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	32497488
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	15358760
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	19098903
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9242699, 10976766, 12855700, 16799563, 19706601, 20936779, 22265415, 28514442, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12202038, 12242332, 12941800, 15358760, 19098903, 32322062
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	32497488
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12941800, 19098903
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12202038, 12941800
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	32322062
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	7903453
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	ISS
GO:0009267	Process	Cellular response to starvation	IMP	25339898
GO:0010886	Process	Positive regulation of cholesterol storage	IBA
GO:0010886	Process	Positive regulation of cholesterol storage	IDA	15358760
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032933	Process	SREBP signaling pathway	IDA	27614840, 32322062
GO:0032933	Process	SREBP signaling pathway	IEA
GO:0032933	Process	SREBP signaling pathway	IMP	27614840
GO:0032937	Component	SREBP-SCAP-Insig complex	IDA	12202038, 12242332
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166, 32322062, 38503280
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IMP	12177166
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12446768
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12242332
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0070888	Function	E-box binding	IDA	15358760
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEP	15358760
GO:0071499	Process	Cellular response to laminar fluid shear stress	NAS	15358760
GO:0090370	Process	Negative regulation of cholesterol efflux	IDA	15358760
GO:1900222	Process	Negative regulation of amyloid-beta clearance	IMP	19098903
GO:1901524	Process	Regulation of mitophagy	HMP	24912190
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24912190
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600481	11290	ENSG00000198911

Q12772

Protein name

Sterol regulatory element-binding protein 2 (SREBP-2) (Class D basic helix-loop-helix protein 2) (bHLHd2) (Sterol regulatory element-binding transcription factor 2) [Cleaved into: Processed sterol regulatory element-binding protein 2 (Transcription factor

Protein function

[Sterol regulatory element-binding protein 2]: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 2), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentratio

PDB

1UKL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	331 → 381	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in adult and fetal tissues. {ECO:0000269|PubMed:7903453}.

Sequence

MDDSGELGGLETMETLTELGDELTLGDIDEMLQFVSNQVGEFPDLFSEQLCSSFPGSGGS
GSSSGSSGSSSSSSNGRGSSSGAVDPSVQRSFTQVTLPSFSPSAASPQAPTLQVKVSPTS
VPTTPRATPILQPRPQPQPQPQTQLQQQTVMITPTFSTTPQTRIIQQPLIYQNAATSFQV
LQPQVQSLVTSSQVQPVTIQQQVQTVQAQRVLTQTANGTLQTLAPATVQTVAAPQVQQVP
VLVQPQIIKTDSLVLTTLKTDGSPVMAAVQNPALTALTTPIQTAALQVPTLVGSSGTILT
TMPVMMGQEKVPIKQVPGGVKQLEPPKEGERRTTHNIIEKRYRSSINDKIIELKDLVMGT
DAKMHKSGVLRKAIDYIKYLQQVNHKLRQENMVLKLANQKNKLLKGIDLGSLVDNEVDLK
IEDFNQNVLLMSPPASDSGSQAGFSPYSIDSEPGSPLLDDAKVKDEPDSPPVALGMVDRS
RILLCVLTFLCLSFNPLTSLLQWGGAHDSDQHPHSGSGRSVLSFESGSGGWFDWMMPTLL
LWLVNGVIVLSVFVKLLVHGEPVIRPHSRSSVTFWRHRKQADLDLARGDFAAAAGNLQTC
LAVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAK
TSARDAALAYHRLHQLHITGKLPAGSACSDVHMALCAVNLAECAEEKIPPSTLVEIHLTA
AMGLKTRCGGKLGFLASYFLSRAQSLCGPEHSAVPDSLRWLCHPLGQKFFMERSWSVKSA
AKESLYCAQRNPADPIAQVHQAFCKNLLERAIESLVKPQAKKKAGDQEEESCEFSSALEY
LKLLHSFVDSVGVMSPPLSRSSVLKSALGPDIICRWWTSAITVAISWLQGDDAAVRSHFT
KVERIPKALEVTESPLVKAIFHACRAMHASLPGKADGQQSSFCHCERASGHLWSSLNVSG
ATSDPALNHVVQLLTCDLLLSLRTALWQKQASASQAVGETYHASGAELAGFQRDLGSLRR
LAHSFRPAYRKVFLHEATVRLMAGASPTRTHQLLEHSLRRRTTQSTKHGEVDAWPGQRER
ATAILLACRHLPLSFLSSPGQRAVLLAEAARTLEKVGDRRSCNDCQQMIVKLGGGTAIAA
S

Sequence length

1141

Interactions

View interactions

	Reactome
			Regulation of cholesterol biosynthesis by SREBP (SREBF) PPARA activates gene expression Activation of gene expression by SREBF (SREBP) EGR2 and SOX10-mediated initiation of Schwann cell myelination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SREBF2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (127)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31490983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22414021	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	33920138	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	29503034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31861978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12801623, 16466730, 23838163, 24300912, 25188917, 27094367, 27905947, 27909053, 29499335, 30354203, 30777884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12801623, 16466730, 23838163, 24300912, 25188917, 27094367, 27905947, 27909053, 29499335, 30354203, 30705153, 30777884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19292868, 23717417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	38588613	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	27771555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24382701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12531699, 26353928, 30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26317411	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	31432128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35642354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24382701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35619540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	LHGDN	12801623		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	12801623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	31610782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22429355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	23577061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11314036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22465712, 37661645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	20699619	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12801623, 19740467, 28367087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19740467, 28367087, 29152152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28367087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32323776	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	30673762	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19740467, 28367087, 30673762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	30673762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	30673762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19582494, 22662110, 25880168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	16082694		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia, Vascular	Dementia	LHGDN	16082694		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	18682608, 23274901, 28096339, 28367087, 29122977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18682608, 23274901, 28096339, 28367087, 29122977		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22828168, 23274901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28367087	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19292868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28367087, 29601949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29420703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	35899893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31432128	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28676202, 28774869, 31470036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28774869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28774869, 29243365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31181660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36934350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31181660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31746143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31746143, 36934350, 38070488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	20450493, 31827541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	11950857, 18095312, 29187523, 29257228, 30233497, 30705153		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, Familial	Hypercholesterolemia	GENOMICS_ENGLAND_DG	11950857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	28502511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27918728, 29677194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	23838163, 28764799, 29660431, 30821074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	15547298, 23274901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	15547298, 32811528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	28502511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	27703009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	30233497		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	37377965	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23274901	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	27703009	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22429355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17198935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	19878707		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	38030791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	28901487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21147110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29336468, 30448348, 31720078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	23274901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29336468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32883951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12531699, 26353928, 30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31664866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22657538, 28130224, 28947967, 31023626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24382701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29449559, 29466876, 31720078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	30394316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30970006, 33203734, 35408842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28096339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23274901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25201120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34378191, 37859702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17383658, 20111910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17383658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11314036, 28947967, 29449559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18032389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	LHGDN	17008555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	19231010, 19360318, 20929443, 22182810, 22560219, 23274901, 24992162, 28011404, 28429814, 28777914, 28965030, 29336468, 31327168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26330060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	23274901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11278795, 25028659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19292868, 25028659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22662110, 24496149, 25880168	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22662110	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	24496149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	24496149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	18954446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30466075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25134999, 29466876, 34823420, 38166541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31664866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29237705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25005769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22657538, 28130224, 28947967, 31023626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15026365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20041144, 25294820, 32028704, 33780364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18936756, 25201120, 27492885, 29720671		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18936756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sitosterolemia	Sitosterolemia	BEFREE	29353227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	9610773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31432128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20929443, 28676202, 28774869, 31470036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24382701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SREBF2 (sterol regulatory element binding transcription factor 2)