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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	90993
Gene name	CAMP responsive element binding protein 3 like 1
Gene symbol	CREB3L1
Synonyms (NCBI Gene)	C16DELp11.2DEL16p11.2OASISOI16
Chromosome	11
Chromosome location	11p11.2
Summary	The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. Ther

Show/Hide all (2)

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

155

Show/Hide all (155)

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

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IDA	27121396
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
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	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	27121396
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 23661758, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 35156780
GO:0005634	Component	Nucleus	IDA	25310401
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	16236796
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	27121396
GO:0016020	Component	Membrane	IDA	25310401
GO:0016020	Component	Membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	25310401
GO:0034976	Process	Response to endoplasmic reticulum stress	ISS
GO:0035497	Function	CAMP response element binding	IBA
GO:0035497	Function	CAMP response element binding	ISS
GO:0040037	Process	Negative regulation of fibroblast growth factor receptor signaling pathway	IDA	27121396
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	27121396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IPI	25310401
GO:0070278	Process	Extracellular matrix constituent secretion	ISS
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1903671	Process	Negative regulation of sprouting angiogenesis	IGI	27121396
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
616215	18856	ENSG00000157613

Q96BA8

Protein name

Cyclic AMP-responsive element-binding protein 3-like protein 1 (cAMP-responsive element-binding protein 3-like protein 1) (Old astrocyte specifically-induced substance) (OASIS) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like

Protein function

[Cyclic AMP-responsive element-binding protein 3-like protein 1]: Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with

Family and domains

Pfam

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

Tissue specificity

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

Sequence

MDAVLEPFPADRLFPGSSFLDLGDLNESDFLNNAHFPEHLDHFTENMEDFSNDLFSSFFD
DPVLDEKSPLLDMELDSPTPGIQAEHSYSLSGDSAPQSPLVPIKMEDTTQDAEHGAWALG
HKLCSIMVKQEQSPELPVDPLAAPSAMAAAAAMATTPLLGLSPLSRLPIPHQAPGEMTQL
PVIKAEPLEVNQFLKVTPEDLVQMPPTPPSSHGSDSDGSQSPRSLPPSSPVRPMARSSTA
ISTSPLLTAPHKLQGTSGPLLLTEEEKRTLIAEGYPIPTKLPLTKAEEKALKRVRRKIKN
KISAQESRRKKKEYVECLEKKVETFTSENNELWKKVETLENANRTLLQQLQKLQTLVTNK
ISRPYKMAATQTGTCLMVAALCFVLVLGSLVPCLPEFSSGSQTVKEDPLAADGVYTASQM
PSRSLLFYDDGAGLWEDGRSTLLPMEPPDGWEINPGGPAEQRPRDHLQHDHLDSTHETTK
YLSEAWPKDGGNGTSPDFSHSKEWFHDRDLGPNTTIKLS

Sequence length

519

Interactions

View interactions

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta	Pathogenic	rs1555222973	RCV000754794	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 16	Pathogenic; Likely pathogenic	rs747678376, rs1555222973, rs779809838, rs1939498274, rs1939508698	RCV002250968 RCV000677179 RCV000677180 RCV001196385 RCV001262123	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

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.
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC THROMBOEMBOLIC PULMONARY HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREB3L1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE III	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XVI	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (72)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23956249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	32234057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30030650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30030650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25625847, 26810754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25625847, 26810754, 29057869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25625847, 26810754, 29057869, 29530003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25625847, 26810754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28186972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28024656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	31207160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	30030650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30030650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26917262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	BEFREE	30311695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	LHGDN	17721195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	25990776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23335989, 29531016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23335989, 29531016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28024656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	24896634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34299244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28246883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	29531016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25625847, 26810754, 29057869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25625847, 26810754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26810754, 29057869, 30103710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26810754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30030650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29984160, 30621676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myxofibrosarcoma	Myxofibrosarcoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21987447, 25231134, 25625847, 26810754, 28186972, 30103710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28734908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29631562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	28107238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	24079343, 28817112, 29936144, 30657919, 31207160		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	24079343, 28817112, 31207160, 32234057	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	28817112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	32234057	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	24079343		★★★★★ ★☆☆☆☆ Found in Text Mining only
OSTEOGENESIS IMPERFECTA, TYPE XVI	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	30657919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XVI	Osteogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	29936144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	31285632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	33280191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progesterone Resistance	Progesterone Resistance	BEFREE	26917262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28734908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	31362994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	17721195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22819758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma of kidney	Sarcoma Of Kidney	BEFREE	24896634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28186972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	33280191	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	31183379	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32887540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32887540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26810754, 30103710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26810754	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29057869, 33280191, 36123435, 40427627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25625847	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	37331118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CREB3L1 (cAMP responsive element binding protein 3 like 1)