EFEMP2 (EGF containing fibulin extracellular matrix protein 2)

Gene

• Entrez ID: 30008
• Gene name: EGF containing fibulin extracellular matrix protein 2
• Gene symbol: EFEMP2
• Synonyms (NCBI Gene): ARCL1B, FBLN4, MBP1, UPH1
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2234462	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs119489101	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119489102	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs144320036	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs148410446	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs193302864	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302866	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302867	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302869	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193302870	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs397514683	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs888015688	C>G	Likely-pathogenic	Splice acceptor variant
rs1064796673	T>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000076	hsa-miR-346	Microarray, qRT-PCR	16822819
MIRT000076	hsa-miR-346	Western blot;Other	21611196
MIRT021872	hsa-miR-128-3p	Microarray	17612493
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569878	hsa-miR-1258	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569889	hsa-miR-4512	PAR-CLIP	20371350
MIRT569888	hsa-miR-3918	PAR-CLIP	20371350
MIRT569887	hsa-miR-4685-5p	PAR-CLIP	20371350
MIRT569886	hsa-miR-6837-5p	PAR-CLIP	20371350
MIRT569885	hsa-miR-1915-3p	PAR-CLIP	20371350
MIRT569884	hsa-miR-6764-5p	PAR-CLIP	20371350
MIRT569883	hsa-miR-660-3p	PAR-CLIP	20371350
MIRT569882	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT569881	hsa-miR-8073	PAR-CLIP	20371350
MIRT569880	hsa-miR-6791-3p	PAR-CLIP	20371350
MIRT569879	hsa-miR-6829-3p	PAR-CLIP	20371350
MIRT569878	hsa-miR-1258	PAR-CLIP	20371350
MIRT1548208	hsa-miR-1915	CLIP-seq
MIRT1982353	hsa-miR-4469	CLIP-seq
MIRT2521242	hsa-miR-1224-3p	CLIP-seq
MIRT2521243	hsa-miR-3157-5p	CLIP-seq
MIRT2521244	hsa-miR-4691-3p	CLIP-seq
MIRT2521245	hsa-miR-4733-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28327460
GO:0005201	Function	Extracellular matrix structural constituent	TAS	10601734
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16478991, 16713569, 19349279, 19570982, 19855011, 22919265, 23088713, 25416956, 25910212, 26871637, 27339457, 29892012, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005604	Component	Basement membrane	TAS	10601734
GO:0008201	Function	Heparin binding	IDA	23782690
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	IDA	20389311, 27339457
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0035904	Process	Aorta development	IEA
GO:0035904	Process	Aorta development	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	23782690
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	IMP	18973305, 27339457
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0060414	Process	Aorta smooth muscle tissue morphogenesis	IEA
GO:0060414	Process	Aorta smooth muscle tissue morphogenesis	ISS
GO:0060840	Process	Artery development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071953	Component	Elastic fiber	IDA	27339457
GO:0071953	Component	Elastic fiber	IEA
GO:0071953	Component	Elastic fiber	ISS
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	ISS
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904026	Process	Regulation of collagen fibril organization	IEA
GO:1904026	Process	Regulation of collagen fibril organization	ISS
GO:1904028	Process	Positive regulation of collagen fibril organization	IEA
GO:1904028	Process	Positive regulation of collagen fibril organization	ISS
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	ISS
GO:1904831	Process	Positive regulation of aortic smooth muscle cell differentiation	IEA
GO:1904831	Process	Positive regulation of aortic smooth muscle cell differentiation	ISS
GO:1905609	Process	Positive regulation of smooth muscle cell-matrix adhesion	IMP	23782690

Other IDs

• MIM: 604633
• HGNC: 3219
• e!Ensembl: ENSG00000172638

Protein

• UniProt ID: O95967
• Protein name: EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4) (FIBL-4) (Protein UPH1)
• Protein function: Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smo
• PDB: 2KL7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	54 → 87	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	123 → 162	Calcium-binding EGF domain	Domain
  PF12662	cEGF	183 → 206	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	283 → 329	Calcium-binding EGF domain	Domain

• Sequence:

  MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLT
  IPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDS
  CVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNL
  PGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
  CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTC
  VNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADV
  FQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTM
  NSLMSYRASSVLRLTVFVGAYTF

• Sequence length: 443

Pathways

Reactome:

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
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1859863045, rs763944898	RCV002331962 RCV002339579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa	Likely pathogenic	rs57685603	RCV004018137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, autosomal recessive, type 1A	Pathogenic; Likely pathogenic	rs119489101, rs119489102, rs193302865, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866	RCV000032268 RCV000032275 RCV000032265 RCV000032266 RCV000032269 RCV000032270 RCV000032271 RCV000032272 RCV000032274	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, autosomal recessive, type 1B	Pathogenic; Likely pathogenic	rs2134747667, rs119489101, rs119489102, rs193302865, rs1859902707, rs1423701653, rs2495583852, rs2495580444, rs2495573872, rs2495579185, rs1565274421, rs1267180414, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs397514683, rs1555042727, rs888015688, rs1591064775, rs761656636, rs763944898, rs1044449024, rs1859884792, rs1859976995, rs1859949436	RCV001382781 RCV000005756 RCV000005757 RCV000005758 RCV002857374 RCV002966485 RCV003226820 RCV003528849 RCV003527933 RCV003644188 RCV003642393 RCV003990639 RCV000033128 RCV000033125 RCV000033126 RCV000033127 RCV000034873 RCV000023384 RCV000034874 RCV000649943 RCV000698216 RCV000805837 RCV001169986 RCV001219308 RCV001206195 RCV001213650 RCV001212965 RCV001261982	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial aortopathy	Likely pathogenic; Pathogenic	rs761656636	RCV004800708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIAL TORTUOSITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Recessive	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EFEMP2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED ABDOMINAL AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED THORACIC AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACIC AORTIC ANEURYSM	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACOABDOMINAL AORTIC ANEURYSM, RUPTURED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33083483	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	20389311	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	GENOMICS_ENGLAND_DG	16685658, 17937443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic aneurysm	Pubtator	20389311	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28508064, 30355232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	26017485	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33083483	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	BEFREE	19664000, 27339457		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	20389311	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	22070778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	31157540		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16493080		★☆☆☆☆ Found in Text Mining only
Autosomal recessive cutis laxa type 1	Cutis Laxa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bowel diverticulosis	Bowel diverticulosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19934312, 20412594, 20886042, 23421821, 24470074, 28282800		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24470074	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28282800	Inhibit	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17178888		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25885889		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20886042		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	28508064		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20389311	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	24733866		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24737201		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	24737201		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24737201		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34080027	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11231014		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23372686, 28901407	Associate	★☆☆☆☆ Found in Text Mining only
Congenital aneurysm of ascending aorta	Congenital Aneurysm Of Ascending Aorta	BEFREE	22440127		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis laxa	Pubtator	16685658, 31792352	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	BEFREE	20389311, 22070778, 24733866, 26178373, 27339457		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	GENOMICS_ENGLAND_DG	22829427		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa recessive	Cutis laxa	Pubtator	16685658	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Recessive, Type I	Cutis Laxa	ORPHANET_DG	16685658, 19664000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	Cutis Laxa	GENOMICS_ENGLAND_DG	16685658, 17937443, 22943132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	Cutis Laxa	UNIPROT_DG	16685658, 17937443, 19664000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	Cutis Laxa	CLINVAR_DG	17937443, 2038931, 27339457		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, recessive	Cutis Laxa	BEFREE	19664000, 26178373		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cutis laxa, recessive, type I	Cutis Laxa	ORPHANET_DG	16685658, 19664000		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16493080, 28238906, 31396630		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16493080		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	23518852		★☆☆☆☆ Found in Text Mining only
Diverticulum of renal calyx	Diverticulum Of Renal Calyx	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	16685658	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28177909, 30698832		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	16478991, 17293478, 19855011, 20019329, 22440127, 23518852, 26178373, 26220971		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fibromuscular Dysplasia	Fibromuscular Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27116978, 30894197, 32396873, 38019838	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26617746	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30894197, 32396873	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lethal arteriopathy syndrome due to fibulin-4 deficiency	Lethal Arteriopathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17178888		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25885889	Stimulate	★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	BEFREE	12431256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19934312, 20412594, 20886042, 23421821, 24470074, 28282800		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28177909, 30698832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17178888		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25885889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16762917		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17929269		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19934312, 24737201, 28282800		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24737201		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23313295		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19664000		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18430716		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18430716		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10380882, 11231014, 16359544, 20412594, 23975832, 24042169, 24684412, 24737201, 25885889, 28282800		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17178888		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	22070778		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28339091		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36316642	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25885889		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25885889		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25885889	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28282800, 37420173	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	16762917		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16762917		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15705866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17929269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	16478991		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	BEFREE	30632874		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	39264086	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16493080		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16493080		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16493080		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24838734		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only