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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2192
Gene name	Fibulin 1
Gene symbol	FBLN1
Synonyms (NCBI Gene)	FBLNFIBL1
Chromosome	22
Chromosome location	22q13.31
Summary	Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice v

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SNP ID	Visualize variation	Clinical significance	Consequence
rs397509432	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs765918593	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant

185

Show/Hide all (185)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049926	hsa-miR-30a-3p	CLASH	23622248
MIRT990041	hsa-miR-1207-5p	CLIP-seq
MIRT990042	hsa-miR-1258	CLIP-seq
MIRT990043	hsa-miR-4436b-3p	CLIP-seq
MIRT990044	hsa-miR-4496	CLIP-seq
MIRT990045	hsa-miR-4763-3p	CLIP-seq
MIRT990046	hsa-miR-4290	CLIP-seq
MIRT990047	hsa-miR-1827	CLIP-seq
MIRT990048	hsa-miR-3922-5p	CLIP-seq
MIRT990049	hsa-miR-451b	CLIP-seq
MIRT990050	hsa-miR-4708-3p	CLIP-seq
MIRT990051	hsa-miR-4766-3p	CLIP-seq
MIRT1993390	hsa-miR-3614-5p	CLIP-seq
MIRT1993391	hsa-miR-4252	CLIP-seq
MIRT1993392	hsa-miR-4640-5p	CLIP-seq
MIRT1993393	hsa-miR-4726-5p	CLIP-seq
MIRT1993394	hsa-miR-635	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2387899	hsa-miR-140-3p	CLIP-seq
MIRT2387900	hsa-miR-4704-3p	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2428751	hsa-miR-1283	CLIP-seq
MIRT2428752	hsa-miR-139-5p	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2428755	hsa-miR-221	CLIP-seq
MIRT2428756	hsa-miR-222	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2428758	hsa-miR-3120-3p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2428760	hsa-miR-3143	CLIP-seq
MIRT2428761	hsa-miR-371-3p	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2428767	hsa-miR-539	CLIP-seq
MIRT2428768	hsa-miR-543	CLIP-seq
MIRT2428769	hsa-miR-548v	CLIP-seq
MIRT2428770	hsa-miR-605	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2531192	hsa-miR-1238	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2531193	hsa-miR-1290	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2428755	hsa-miR-221	CLIP-seq
MIRT2428756	hsa-miR-222	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2531194	hsa-miR-302a	CLIP-seq
MIRT2531195	hsa-miR-302b	CLIP-seq
MIRT2531196	hsa-miR-302c	CLIP-seq
MIRT2531197	hsa-miR-302d	CLIP-seq
MIRT2531198	hsa-miR-302e	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2531199	hsa-miR-372	CLIP-seq
MIRT2531200	hsa-miR-373	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2531201	hsa-miR-4438	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2531202	hsa-miR-4711-3p	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2531203	hsa-miR-511	CLIP-seq
MIRT2531204	hsa-miR-520a-3p	CLIP-seq
MIRT2531205	hsa-miR-520b	CLIP-seq
MIRT2531206	hsa-miR-520c-3p	CLIP-seq
MIRT2531207	hsa-miR-520d-3p	CLIP-seq
MIRT2531208	hsa-miR-520e	CLIP-seq
MIRT2428769	hsa-miR-548v	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq
MIRT2531192	hsa-miR-1238	CLIP-seq
MIRT2428750	hsa-miR-1245b-3p	CLIP-seq
MIRT2437204	hsa-miR-1254	CLIP-seq
MIRT2531193	hsa-miR-1290	CLIP-seq
MIRT2437205	hsa-miR-1305	CLIP-seq
MIRT2437206	hsa-miR-147b	CLIP-seq
MIRT2428753	hsa-miR-149	CLIP-seq
MIRT2428754	hsa-miR-155	CLIP-seq
MIRT2437207	hsa-miR-204	CLIP-seq
MIRT2437208	hsa-miR-211	CLIP-seq
MIRT2227291	hsa-miR-24	CLIP-seq
MIRT2531194	hsa-miR-302a	CLIP-seq
MIRT2531195	hsa-miR-302b	CLIP-seq
MIRT2531196	hsa-miR-302c	CLIP-seq
MIRT2531197	hsa-miR-302d	CLIP-seq
MIRT2531198	hsa-miR-302e	CLIP-seq
MIRT2428757	hsa-miR-3064-5p	CLIP-seq
MIRT2437209	hsa-miR-3116	CLIP-seq
MIRT2437210	hsa-miR-3117-5p	CLIP-seq
MIRT2428759	hsa-miR-3126-3p	CLIP-seq
MIRT2437211	hsa-miR-3614-3p	CLIP-seq
MIRT2437212	hsa-miR-3662	CLIP-seq
MIRT2437213	hsa-miR-3689d	CLIP-seq
MIRT2437214	hsa-miR-3691-3p	CLIP-seq
MIRT2531199	hsa-miR-372	CLIP-seq
MIRT2531200	hsa-miR-373	CLIP-seq
MIRT2227292	hsa-miR-374c	CLIP-seq
MIRT2437215	hsa-miR-378g	CLIP-seq
MIRT2437216	hsa-miR-3908	CLIP-seq
MIRT2680817	hsa-miR-421	CLIP-seq
MIRT2437217	hsa-miR-4254	CLIP-seq
MIRT2227293	hsa-miR-4284	CLIP-seq
MIRT2437218	hsa-miR-4437	CLIP-seq
MIRT2531201	hsa-miR-4438	CLIP-seq
MIRT2437219	hsa-miR-4446-5p	CLIP-seq
MIRT2428762	hsa-miR-4666-5p	CLIP-seq
MIRT2437220	hsa-miR-4674	CLIP-seq
MIRT2680818	hsa-miR-4709-5p	CLIP-seq
MIRT2531202	hsa-miR-4711-3p	CLIP-seq
MIRT2437221	hsa-miR-4755-5p	CLIP-seq
MIRT2680819	hsa-miR-4778-5p	CLIP-seq
MIRT2428763	hsa-miR-4781-3p	CLIP-seq
MIRT2428764	hsa-miR-4794	CLIP-seq
MIRT2428765	hsa-miR-499-3p	CLIP-seq
MIRT2428766	hsa-miR-499a-3p	CLIP-seq
MIRT2531203	hsa-miR-511	CLIP-seq
MIRT2531204	hsa-miR-520a-3p	CLIP-seq
MIRT2531205	hsa-miR-520b	CLIP-seq
MIRT2531206	hsa-miR-520c-3p	CLIP-seq
MIRT2531207	hsa-miR-520d-3p	CLIP-seq
MIRT2531208	hsa-miR-520e	CLIP-seq
MIRT2437222	hsa-miR-623	CLIP-seq
MIRT2227294	hsa-miR-655	CLIP-seq
MIRT2428771	hsa-miR-664	CLIP-seq
MIRT2437223	hsa-miR-885-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	11829738
SP3	Unknown	11829738

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001933	Process	Negative regulation of protein phosphorylation	IDA	11792823
GO:0001968	Function	Fibronectin binding	IPI	1400330, 9278415
GO:0005178	Function	Integrin binding	IDA	25661773
GO:0005178	Function	Integrin binding	IPI	25661773
GO:0005201	Function	Extracellular matrix structural constituent	IDA	2269669
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 28327460, 28675934
GO:0005509	Function	Calcium ion binding	IDA	9278415
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9927660, 11238726, 12200142, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IDA	2269669
GO:0007162	Process	Negative regulation of cell adhesion	IDA	11792823
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	11792823
GO:0007566	Process	Embryo implantation	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	25834989
GO:0016504	Function	Peptidase activator activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IDA	2269669
GO:0031012	Component	Extracellular matrix	IEA
GO:0042802	Function	Identical protein binding	IDA	1400330, 9278415, 25661773
GO:0042802	Function	Identical protein binding	IPI	25661773
GO:0044877	Function	Protein-containing complex binding	IPI	7642629
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	25834989
GO:0070051	Function	Fibrinogen binding	IPI	7642629
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IDA	11792823
GO:0071635	Process	Negative regulation of transforming growth factor beta production	IDA	25834989
GO:0071953	Component	Elastic fiber	IDA	7534784
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	7642629
GO:1900025	Process	Negative regulation of substrate adhesion-dependent cell spreading	IDA	11792823
GO:1904188	Process	Negative regulation of transformation of host cell by virus	IMP	12200142
GO:1904237	Process	Positive regulation of substrate-dependent cell migration, cell attachment to substrate	IDA	25834989
GO:2000146	Process	Negative regulation of cell motility	IDA	11792823
GO:2000647	Process	Negative regulation of stem cell proliferation	IDA	11238726

MIM	HGNC	e!Ensembl
135820	3600	ENSG00000077942

P23142

Protein name

Fibulin-1 (FIBL-1)

Protein function

Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07645	EGF_CA	216 → 260	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	262 → 306	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	308 → 354	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	356 → 397	Calcium-binding EGF domain	Domain
PF12662	cEGF	421 → 444	Complement Clr-like EGF-like	Domain
PF12662	cEGF	460 → 484	Complement Clr-like EGF-like	Domain
PF12662	cEGF	504 → 528	Complement Clr-like EGF-like	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells. {ECO:0000269|PubMed:9106159}.

Sequence

MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKE
CRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQ
AQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRC
RGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSF
RCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQ
DALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDEC
APPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLG
SYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCE
DIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINE
TCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTV
ISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVV
RQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSEYWF

Sequence length

703

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Molecules associated with elastic fibres

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 (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.
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FBLN1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNPOLYDACTYLY 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synpolydactyly type 2	Uncertain significance; Benign; Likely benign	ClinVar GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (106)

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	31663514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	17062666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32792518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	29867203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20967215, 28862768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12644824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	14635206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	14635206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	22365631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	22365631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25234557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	36077598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	24084572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12160330, 12644824, 12858331, 14691454, 15528301, 17483339, 29940241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12644824, 36361532, 37056938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30266493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9811350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28333958	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25234557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	9811350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23294625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24349233, 25735864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	24084572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30266493	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	23762390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17062666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25837757, 29715435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24516561, 25837757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28068900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23391467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26507503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	24084572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23907575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	9811350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21926180	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23294625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28068900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21926180, 26507503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33887734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	21276682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	35127942	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelioma	Epithelioma	BEFREE	9811350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28640357		★★★★★ ★☆☆☆☆ Found in Text Mining only
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	16571622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	12644824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32792518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	19145252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24158112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28068900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28068900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24084572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30266493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30694515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	23294625	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	11836357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21268132, 28333958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	31860081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12160330, 12644824, 12858331, 14691454, 15528301, 17483339, 29940241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	9811350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17280610, 28168724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17929269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18985039, 26779638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25234557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12858331, 23391467, 23907575, 25234557, 25837757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17062666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12644824, 14691454, 15528301		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23907575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33470885	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	23907575	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19885562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34871540	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	28068900	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12160330, 12644824, 14691454, 17062666, 17483339, 18222970, 21268132, 23391467, 23907575, 25234557, 25837757, 26779638, 29715435, 29940241, 9811350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	32430056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36077598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20340016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	8552629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	8552629, 9811350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26507503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29680975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	29715435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17280610, 28168724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17280610, 21804603, 31376183	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17929269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23391467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	40591022	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18985039, 26779638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18985039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18985039	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	24084572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	24084572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly type 2	Syndactyly	Pubtator	31792352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly, type 2	Syndactyly	BEFREE	11836357, 31792352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synpolydactyly 2	Synpolydactyly	ORPHANET_DG	11836357, 22448207		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synpolydactyly 2	Synpolydactyly	GENOMICS_ENGLAND_DG	24084572		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synpolydactyly 2	Synpolydactyly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synpolydactyly type 2	Synpolydactyly	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tarsal Coalition	Tarsal Coalition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	35127942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FBLN1 (fibulin 1)