FBLN5 (fibulin 5)

Gene

• Entrez ID: 10516
• Gene name: Fibulin 5
• Gene symbol: FBLN5
• Synonyms (NCBI Gene): ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50
• Chromosome: 14
• Chromosome location: 14q32.12
• Summary: The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939072	A>G	Pathogenic	Coding sequence variant, missense variant
rs28939370	A>G	Pathogenic	Coding sequence variant, missense variant
rs61734479	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs80338765	C>T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs80338766	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338767	C>A	Pathogenic	Stop gained, coding sequence variant
rs121434299	C>G	Pathogenic	Missense variant, coding sequence variant
rs121434300	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434301	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121434302	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434303	C>T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs144288844	C>G,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant
rs200178859	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs746630839	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs864309526	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1595286986	CT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006770	hsa-miR-200c-3p	Luciferase reporter assay	22685266
MIRT006770	hsa-miR-200c-3p	Luciferase reporter assay, Western blot	22569286
MIRT018518	hsa-miR-335-5p	Microarray	18185580
MIRT029864	hsa-miR-26b-5p	Microarray	19088304
MIRT460762	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460761	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT460760	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT460759	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT460758	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT460756	hsa-miR-3185	PAR-CLIP	23592263
MIRT460757	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT460755	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460754	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT460753	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460751	hsa-miR-6077	PAR-CLIP	23592263
MIRT460752	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT460750	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT460762	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT460761	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT460760	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT460759	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT460758	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT460756	hsa-miR-3185	PAR-CLIP	23592263
MIRT460757	hsa-miR-2277-3p	PAR-CLIP	23592263
MIRT460755	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460754	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT460753	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT460751	hsa-miR-6077	PAR-CLIP	23592263
MIRT460752	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT460750	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT990080	hsa-miR-3122	CLIP-seq
MIRT990081	hsa-miR-3913-5p	CLIP-seq
MIRT990082	hsa-miR-4463	CLIP-seq
MIRT990083	hsa-miR-4747-5p	CLIP-seq
MIRT990084	hsa-miR-629	CLIP-seq
MIRT990085	hsa-miR-7	CLIP-seq
MIRT1993395	hsa-miR-1976	CLIP-seq
MIRT1993396	hsa-miR-4279	CLIP-seq
MIRT1993397	hsa-miR-4421	CLIP-seq
MIRT1993398	hsa-miR-4712-3p	CLIP-seq
MIRT1993399	hsa-miR-4780	CLIP-seq
MIRT1993400	hsa-miR-623	CLIP-seq
MIRT2227295	hsa-miR-128	CLIP-seq
MIRT1993395	hsa-miR-1976	CLIP-seq
MIRT1993396	hsa-miR-4279	CLIP-seq
MIRT1993397	hsa-miR-4421	CLIP-seq
MIRT1993399	hsa-miR-4780	CLIP-seq
MIRT1993400	hsa-miR-623	CLIP-seq
MIRT2531217	hsa-miR-103b	CLIP-seq
MIRT2531218	hsa-miR-1245b-5p	CLIP-seq
MIRT2531219	hsa-miR-1273g	CLIP-seq
MIRT2531220	hsa-miR-197	CLIP-seq
MIRT2531221	hsa-miR-2052	CLIP-seq
MIRT2531222	hsa-miR-3142	CLIP-seq
MIRT2531223	hsa-miR-3177-5p	CLIP-seq
MIRT2531224	hsa-miR-3614-3p	CLIP-seq
MIRT2531225	hsa-miR-3622b-5p	CLIP-seq
MIRT2531226	hsa-miR-3647-3p	CLIP-seq
MIRT2531227	hsa-miR-3681	CLIP-seq
MIRT2531228	hsa-miR-370	CLIP-seq
MIRT2531229	hsa-miR-376c	CLIP-seq
MIRT2531230	hsa-miR-3908	CLIP-seq
MIRT2531231	hsa-miR-4493	CLIP-seq
MIRT2531232	hsa-miR-4645-5p	CLIP-seq
MIRT2531233	hsa-miR-4661-5p	CLIP-seq
MIRT2531234	hsa-miR-4673	CLIP-seq
MIRT2531235	hsa-miR-4684-5p	CLIP-seq
MIRT2531236	hsa-miR-4738-3p	CLIP-seq
MIRT2531237	hsa-miR-494	CLIP-seq
MIRT2531238	hsa-miR-548ac	CLIP-seq
MIRT2531239	hsa-miR-548ae	CLIP-seq
MIRT2531240	hsa-miR-548aj	CLIP-seq
MIRT2531241	hsa-miR-548am	CLIP-seq
MIRT2531242	hsa-miR-548d-3p	CLIP-seq
MIRT2531243	hsa-miR-548g	CLIP-seq
MIRT2531244	hsa-miR-548x	CLIP-seq
MIRT2531245	hsa-miR-548z	CLIP-seq
MIRT2531246	hsa-miR-563	CLIP-seq
MIRT2531247	hsa-miR-584	CLIP-seq
MIRT2531248	hsa-miR-939	CLIP-seq
MIRT2531249	hsa-miR-942	CLIP-seq
MIRT2531217	hsa-miR-103b	CLIP-seq
MIRT2531218	hsa-miR-1245b-5p	CLIP-seq
MIRT2531219	hsa-miR-1273g	CLIP-seq
MIRT2680825	hsa-miR-1915	CLIP-seq
MIRT2531220	hsa-miR-197	CLIP-seq
MIRT2680826	hsa-miR-200b	CLIP-seq
MIRT2680827	hsa-miR-200c	CLIP-seq
MIRT2531221	hsa-miR-2052	CLIP-seq
MIRT2531222	hsa-miR-3142	CLIP-seq
MIRT2680828	hsa-miR-3161	CLIP-seq
MIRT2531223	hsa-miR-3177-5p	CLIP-seq
MIRT2531224	hsa-miR-3614-3p	CLIP-seq
MIRT2531225	hsa-miR-3622b-5p	CLIP-seq
MIRT2531226	hsa-miR-3647-3p	CLIP-seq
MIRT2531227	hsa-miR-3681	CLIP-seq
MIRT2680829	hsa-miR-369-3p	CLIP-seq
MIRT2531228	hsa-miR-370	CLIP-seq
MIRT2531229	hsa-miR-376c	CLIP-seq
MIRT2531230	hsa-miR-3908	CLIP-seq
MIRT2680830	hsa-miR-429	CLIP-seq
MIRT2531231	hsa-miR-4493	CLIP-seq
MIRT2531232	hsa-miR-4645-5p	CLIP-seq
MIRT2531233	hsa-miR-4661-5p	CLIP-seq
MIRT2531234	hsa-miR-4673	CLIP-seq
MIRT2531235	hsa-miR-4684-5p	CLIP-seq
MIRT2680831	hsa-miR-4726-3p	CLIP-seq
MIRT2531236	hsa-miR-4738-3p	CLIP-seq
MIRT2531237	hsa-miR-494	CLIP-seq
MIRT2531238	hsa-miR-548ac	CLIP-seq
MIRT2531239	hsa-miR-548ae	CLIP-seq
MIRT2531240	hsa-miR-548aj	CLIP-seq
MIRT2531241	hsa-miR-548am	CLIP-seq
MIRT2531242	hsa-miR-548d-3p	CLIP-seq
MIRT2531243	hsa-miR-548g	CLIP-seq
MIRT2531244	hsa-miR-548x	CLIP-seq
MIRT2531245	hsa-miR-548z	CLIP-seq
MIRT2531246	hsa-miR-563	CLIP-seq
MIRT2531247	hsa-miR-584	CLIP-seq
MIRT2680832	hsa-miR-592	CLIP-seq
MIRT2680833	hsa-miR-597	CLIP-seq
MIRT2680834	hsa-miR-892a	CLIP-seq
MIRT2531248	hsa-miR-939	CLIP-seq
MIRT2531249	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	ISS
GO:0005178	Function	Integrin binding	TAS	10428823
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15528465, 15790312, 17035250, 17581631, 19349279, 19570982, 21653829, 25118846, 25910212, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	TAS	10428823
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	20551380, 25037231, 28675934
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	IDA	17035250
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	10428823
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	19617354, 20007835
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046903	Process	Secretion	IDA	20599547
GO:0048251	Process	Elastic fiber assembly	IBA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	17035250
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071953	Component	Elastic fiber	IEA
GO:0071953	Component	Elastic fiber	ISS
GO:0098867	Process	Intramembranous bone growth	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	IEA
GO:2000121	Process	Regulation of removal of superoxide radicals	ISS

Other IDs

• MIM: 604580
• HGNC: 3602
• e!Ensembl: ENSG00000140092

Protein

• UniProt ID: Q9UBX5
• Protein name: Fibulin-5 (FIBL-5) (Developmental arteries and neural crest EGF-like protein) (Dance) (Urine p50 protein) (UP50)
• Protein function: Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	42 → 84	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	127 → 166	Calcium-binding EGF domain	Domain
  PF12662	cEGF	187 → 210	Complement Clr-like EGF-like	Domain
  PF12662	cEGF	268 → 291	Complement Clr-like EGF-like	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skin fibroblasts (at protein level) (PubMed:17035250). Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or periph
• Sequence:

  MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCV
  NQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMD
  ESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQL
  CANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE
  DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
  LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRS
  VPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL
  EMITVNTVINFRGSSVIRLRIYVSQYPF

• Sequence length: 448

Pathways

Reactome:

Elastic fibre formation
Molecules associated with elastic fibres

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease, demyelinating, IIA 1H	Pathogenic; Likely pathogenic	rs1172268284, rs864309526, rs2056032001	RCV001843339 RCV001843302 RCV003990457	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, autosomal dominant	Likely pathogenic	rs2139960687	RCV003447324	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, autosomal dominant 2	Pathogenic	rs1595286986	RCV000850551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, autosomal recessive, type 1A	Pathogenic	rs1595286986, rs746506432	RCV000850551 RCV001290131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary sensorimotor neuropathy with hyperelastic skin	Likely pathogenic; Pathogenic	rs864309526	RCV003447124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration, age-related, 3	Pathogenic	rs1595286986	RCV000850551	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Age related macular degeneration 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Age-related macular degeneration	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CUTIS LAXA	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cutis laxa type 1	Uncertain significance	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Dominant/Recessive	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMYELINATING HEREDITARY MOTOR AND SENSORY NEUROPATHY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EMPHYSEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FBLN5-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral axonal neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal spinal muscular atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RESPIRATORY TRACT INFECTIONS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	15269314, 16652333, 19617354, 20007835, 20599547, 21576112, 26694911		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	31489966		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	20133342, 27089918		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19948975	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant cutis laxa	Cutis Laxa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive cutis laxa type 1	Cutis Laxa	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BASAL LAMINAR DRUSEN (disorder)	Basal Laminar Drusen	BEFREE	16652333, 26694911, 27007659		★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19767220		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	19617354	Associate	★☆☆☆☆ Found in Text Mining only
Bowel diverticulosis	Bowel diverticulosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26891749, 31204440		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36531485, 37056938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32901854	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25494879, 26494967	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33658475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19767220		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19584278, 25909283, 30305430		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26251522, 29581841		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	15528465		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25792650		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	21576112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood asthma	Asthma	BEFREE	28942149		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	17293375		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24990664		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31148262		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	12189163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	19330549		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31852111	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	12189163, 12618961, 15955094, 16652333, 16691202, 16893474, 17035250, 18185537, 19617354, 20007835, 20599547, 20613779, 21576112, 29590645		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis Laxa	Cutis Laxa	LHGDN	12618961, 18185537		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis Laxa	Cutis laxa	Pubtator	19617354, 20007835, 22872678, 31792352, 33509220	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis Laxa	Cutis Laxa	GENOMICS_ENGLAND_DG	22829427		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis Laxa	Cutis Laxa	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis Laxa Autosomal Recessive Type I	Cutis laxa	Pubtator	15955459	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Dominant	Cutis laxa	ORPHANET_DG	12618961		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa, Autosomal Dominant	Cutis laxa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa	UNIPROT_DG	12189163, 16652333, 16691202, 17035250, 18185537, 20007835, 20599547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa	ORPHANET_DG	22829427		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, recessive	Cutis Laxa	CTD_human_DG	12189163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, recessive	Cutis Laxa	BEFREE	17035250, 19664000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, recessive, type I	Cutis Laxa	ORPHANET_DG	22829427		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25792650		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25792650		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33887734	Associate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	16153447, 31270287		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diverticulum of renal calyx	Diverticulum Of Renal Calyx	HPO_DG			★☆☆☆☆ Found in Text Mining only
Doyne honeycomb retinal dystrophy	Doyne honeycomb retinal dystrophy	Pubtator	25481286	Associate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	26694911		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	20007835	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29581841		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	31358954		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	31358954	Associate	★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25807371		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	27391778		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25684523	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis IGA	Iga nephropathy	Pubtator	29523019	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	20007835	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	12189163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	12189163		★☆☆☆☆ Found in Text Mining only
Hereditary sensorimotor neuropathy with hyperelastic skin	Hereditary Sensorimotor Neuropathy With Hyperelastic Skin	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypersensitivity Immediate	Hypersensitivity	Pubtator	22829427	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28942149		★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19330549		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	12189163		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17716379, 17718906, 22685266	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25494879, 26494967		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	19584278		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30305430	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25494879	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12716467	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31852111	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis	BEFREE	19631308		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	15269314, 17109857, 19617354, 20007835, 22872678, 31792352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 3	Age-Related Macular Degeneration	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	26891749, 31204440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19584278, 25909283, 30305430		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26251522		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17929269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19767220		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16510581, 26891749		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	16893474		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37775701	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	12189163		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24386352		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24386352	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18222970, 19767220, 23557174, 25494879, 25909283, 26021746, 26251522, 26891749, 29581841, 31204440		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21576112, 23945280		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION	NEUROPATHY, HEREDITARY, WITH OR WITHOUT MACULAR DEGENERATION	UNIPROT_DG	15269314, 16652333, 20007835, 20599547, 21576112, 23328402		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION	NEUROPATHY, HEREDITARY, WITH OR WITHOUT MACULAR DEGENERATION	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30305430		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32495858	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26251522		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32901854	Inhibit	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	19251763, 23437119, 24917111, 29073153, 29600404, 29729708, 31451729		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	29730377		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	29730377		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	28332470		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	21576112		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	21576112		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	22790990		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17929269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	25183766		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	19862539, 25891043		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	24962763		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30946557		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	BEFREE	25891043		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CTD_human_DG	12189163		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	25684523	Inhibit	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	33509220	Associate	★☆☆☆☆ Found in Text Mining only
Splenic Neoplasms	Splenic neoplasms	Pubtator	33522209	Associate	★☆☆☆☆ Found in Text Mining only
Spontaneous pneumothorax	Spontaneous pneumothorax	BEFREE	22790990		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27941907	Associate	★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19330549		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	CTD_human_DG	12189163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only