FBN2 (fibrillin 2)

Gene

• Entrez ID: 2201
• Gene name: Fibrillin 2
• Gene symbol: FBN2
• Synonyms (NCBI Gene): CCA, DA9, EOMD
• Chromosome: 5
• Chromosome location: 5q23.3
• Summary: The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2307109	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs28763926	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs28931602	A>C	Pathogenic	Coding sequence variant, missense variant
rs34845843	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs35346129	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs78484531	G>A,C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs78727187	G>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116413101	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs137852825	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852826	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852827	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852828	C>A	Pathogenic	Coding sequence variant, missense variant
rs138303817	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs139686090	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs140464202	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142185964	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142755118	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs147102633	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs147157552	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147346327	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147633551	A>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148014419	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs148971572	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149054177	A>G	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs149071226	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs200060005	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200440156	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201255083	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267606802	A>T	Pathogenic	Missense variant, coding sequence variant
rs368802769	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373970388	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374922166	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs375666281	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs377002313	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs528255772	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565227443	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs587776518	T>A	Pathogenic	Splice acceptor variant
rs587776519	T>C	Pathogenic	Intron variant
rs730882230	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs774248421	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs774807410	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs779483120	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794727560	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs863223547	A>T	Pathogenic	Coding sequence variant, stop gained
rs863223565	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863223566	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863223567	C>T	Pathogenic	Coding sequence variant, missense variant
rs863223570	A>G	Pathogenic	Splice donor variant
rs863223572	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863223574	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863223580	T>C	Pathogenic	Splice acceptor variant
rs863223593	->TTGCCA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863223604	C>A	Likely-pathogenic	Splice donor variant
rs869025428	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038942	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039200	T>G	Likely-pathogenic	Splice acceptor variant
rs1057519321	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521951	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060503498	C>T	Likely-pathogenic	Splice donor variant
rs1060503510	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060503511	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307066	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1206843725	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554075372	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122550	C>G,T	Uncertain-significance, pathogenic	Intron variant
rs1554122802	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122857	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1554122858	T>-	Likely-pathogenic	Splice acceptor variant
rs1554122896	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122897	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554123064	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554123136	C>T	Likely-pathogenic	Splice donor variant
rs1554123139	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1561461125	T>C	Pathogenic	Splice acceptor variant
rs1561758622	C>T	Pathogenic	Intron variant
rs1581222106	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581222180	T>G	Likely-pathogenic	Splice acceptor variant
rs1581223990	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581230766	C>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004012	hsa-miR-101-3p	Western blot	19008416
MIRT004012	hsa-miR-101-3p	Western blot	19008416
MIRT017958	hsa-miR-335-5p	Microarray	18185580
MIRT021389	hsa-miR-9-5p	Microarray	17612493
MIRT047815	hsa-miR-30d-5p	CLASH	23622248
MIRT045540	hsa-miR-149-5p	CLASH	23622248
MIRT040660	hsa-miR-92b-3p	CLASH	23622248
MIRT040044	hsa-miR-615-3p	CLASH	23622248
MIRT037707	hsa-miR-744-5p	CLASH	23622248
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT440669	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440669	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT990122	hsa-miR-1207-3p	CLIP-seq
MIRT990123	hsa-miR-1253	CLIP-seq
MIRT990124	hsa-miR-1255a	CLIP-seq
MIRT990125	hsa-miR-1255b	CLIP-seq
MIRT990126	hsa-miR-1287	CLIP-seq
MIRT990127	hsa-miR-154	CLIP-seq
MIRT990128	hsa-miR-4712-3p	CLIP-seq
MIRT990129	hsa-miR-502-5p	CLIP-seq
MIRT990130	hsa-miR-548aa	CLIP-seq
MIRT990131	hsa-miR-584	CLIP-seq
MIRT1920420	hsa-miR-1206	CLIP-seq
MIRT1920421	hsa-miR-136	CLIP-seq
MIRT1920422	hsa-miR-375	CLIP-seq
MIRT1920423	hsa-miR-376c	CLIP-seq
MIRT1920424	hsa-miR-515-5p	CLIP-seq
MIRT1920425	hsa-miR-579	CLIP-seq
MIRT1920420	hsa-miR-1206	CLIP-seq
MIRT1920421	hsa-miR-136	CLIP-seq
MIRT1920422	hsa-miR-375	CLIP-seq
MIRT1920423	hsa-miR-376c	CLIP-seq
MIRT1920424	hsa-miR-515-5p	CLIP-seq
MIRT1920425	hsa-miR-579	CLIP-seq
MIRT2227301	hsa-miR-181a	CLIP-seq
MIRT2227302	hsa-miR-181b	CLIP-seq
MIRT2227303	hsa-miR-181c	CLIP-seq
MIRT2227304	hsa-miR-181d	CLIP-seq
MIRT2227305	hsa-miR-3973	CLIP-seq
MIRT2227306	hsa-miR-4262	CLIP-seq
MIRT2227307	hsa-miR-505	CLIP-seq
MIRT2227308	hsa-miR-520g	CLIP-seq
MIRT2227309	hsa-miR-520h	CLIP-seq
MIRT2227310	hsa-miR-543	CLIP-seq
MIRT2428805	hsa-miR-101	CLIP-seq
MIRT2428806	hsa-miR-1252	CLIP-seq
MIRT990123	hsa-miR-1253	CLIP-seq
MIRT2428807	hsa-miR-139-5p	CLIP-seq
MIRT2428808	hsa-miR-144	CLIP-seq
MIRT990127	hsa-miR-154	CLIP-seq
MIRT2428809	hsa-miR-1827	CLIP-seq
MIRT2428810	hsa-miR-3132	CLIP-seq
MIRT2428811	hsa-miR-3160-3p	CLIP-seq
MIRT2428812	hsa-miR-3163	CLIP-seq
MIRT2428813	hsa-miR-338-5p	CLIP-seq
MIRT2428814	hsa-miR-3646	CLIP-seq
MIRT2428815	hsa-miR-3647-3p	CLIP-seq
MIRT2428816	hsa-miR-3662	CLIP-seq
MIRT2428817	hsa-miR-3940-5p	CLIP-seq
MIRT2428818	hsa-miR-4261	CLIP-seq
MIRT2428819	hsa-miR-4265	CLIP-seq
MIRT2428820	hsa-miR-4289	CLIP-seq
MIRT2428821	hsa-miR-4296	CLIP-seq
MIRT2428822	hsa-miR-4322	CLIP-seq
MIRT2428823	hsa-miR-4422	CLIP-seq
MIRT2428824	hsa-miR-4464	CLIP-seq
MIRT2428825	hsa-miR-4487	CLIP-seq
MIRT2428826	hsa-miR-4496	CLIP-seq
MIRT2428827	hsa-miR-4506	CLIP-seq
MIRT2428828	hsa-miR-4507	CLIP-seq
MIRT990128	hsa-miR-4712-3p	CLIP-seq
MIRT2428829	hsa-miR-4719	CLIP-seq
MIRT2428830	hsa-miR-4731-3p	CLIP-seq
MIRT2428831	hsa-miR-4748	CLIP-seq
MIRT2428832	hsa-miR-4760-3p	CLIP-seq
MIRT2428833	hsa-miR-4793-5p	CLIP-seq
MIRT2428834	hsa-miR-4799-5p	CLIP-seq
MIRT2428835	hsa-miR-4801	CLIP-seq
MIRT2428836	hsa-miR-485-3p	CLIP-seq
MIRT990129	hsa-miR-502-5p	CLIP-seq
MIRT2428837	hsa-miR-556-5p	CLIP-seq
MIRT2428838	hsa-miR-558	CLIP-seq
MIRT2428839	hsa-miR-568	CLIP-seq
MIRT2428840	hsa-miR-580	CLIP-seq
MIRT990131	hsa-miR-584	CLIP-seq
MIRT2428841	hsa-miR-606	CLIP-seq
MIRT2428842	hsa-miR-629	CLIP-seq
MIRT2428843	hsa-miR-635	CLIP-seq
MIRT2428844	hsa-miR-664	CLIP-seq
MIRT2428845	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IDA	8120105
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	TAS	20855508
GO:0001890	Process	Placenta development	IDA	32329225
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	32329225
GO:0005179	Function	Hormone activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28327460, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12429738, 15131124, 18339631, 25034023, 26601954
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	32329225
GO:0006006	Process	Glucose metabolic process	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IC	8120105
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0031012	Component	Extracellular matrix	HDA	23658023, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	IEA
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	ISS
GO:0042593	Process	Glucose homeostasis	IBA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEP	25406291
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060346	Process	Bone trabecula formation	ISS
GO:1901163	Process	Regulation of trophoblast cell migration	IDA	32329225

Other IDs

• MIM: 612570
• HGNC: 3604
• e!Ensembl: ENSG00000138829

Protein

• UniProt ID: P35556
• Protein name: Fibrillin-2 [Cleaved into: Placensin]
• Protein function: [Fibrillin-2]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18193	Fibrillin_U_N	76 → 112	Fibrillin 1 unique N-terminal domain	Domain
  PF00683	TB	224 → 265	TB domain	Family
  PF07645	EGF_CA	276 → 316	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	318 → 358	Calcium-binding EGF domain	Domain
  PF00683	TB	374 → 420	TB domain	Family
  PF12661	hEGF	505 → 525	Human growth factor-like EGF	Domain
  PF07645	EGF_CA	535 → 573	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	575 → 615	Calcium-binding EGF domain	Domain
  PF12662	cEGF	638 → 661	Complement Clr-like EGF-like	Domain
  PF00683	TB	714 → 759	TB domain	Family
  PF07645	EGF_CA	768 → 808	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	810 → 850	Calcium-binding EGF domain	Domain
  PF00683	TB	906 → 943	TB domain	Family
  PF07645	EGF_CA	955 → 995	Calcium-binding EGF domain	Domain
  PF00683	TB	1011 → 1055	TB domain	Family
  PF07645	EGF_CA	1073 → 1113	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1115 → 1156	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1158 → 1198	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1200 → 1240	Calcium-binding EGF domain	Domain
  PF12662	cEGF	1263 → 1286	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	1325 → 1365	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1367 → 1406	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1408 → 1447	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1449 → 1489	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1491 → 1530	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1532 → 1572	Calcium-binding EGF domain	Domain
  PF00683	TB	1592 → 1636	TB domain	Family
  PF07645	EGF_CA	1650 → 1690	Calcium-binding EGF domain	Domain
  PF00683	TB	1748 → 1794	TB domain	Family
  PF07645	EGF_CA	1808 → 1848	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1850 → 1890	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1892 → 1932	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1934 → 1971	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1973 → 2014	Calcium-binding EGF domain	Domain
  PF12662	cEGF	1996 → 2019	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	2056 → 2096	Calcium-binding EGF domain	Domain
  PF00683	TB	2112 → 2158	TB domain	Family
  PF07645	EGF_CA	2171 → 2211	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2213 → 2251	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2253 → 2292	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2294 → 2336	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2338 → 2378	Calcium-binding EGF domain	Domain
  PF00683	TB	2395 → 2440	TB domain	Family
  PF07645	EGF_CA	2449 → 2489	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2491 → 2530	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2532 → 2569	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2571 → 2612	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2614 → 2652	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2654 → 2693	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2695 → 2733	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Almost exclusively expressed in placenta (PubMed:32329225). Expressed at much lower level in other tissues (PubMed:32329225). Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and i
• Sequence:

  MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLA
  PEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCG
  DGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVC
  ENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCC
  ATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFE
  CRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCID
  QRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDG
  LPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGG
  QGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECT
  SNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQC
  ICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVD
  ECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFP
  GAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICA
  NGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPG
  YVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWL
  NIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECE
  VFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKF
  RMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAF
  PGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFEC
  ECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVD
  INECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNS
  EGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDM
  KTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDM
  HASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGF
  TGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNI
  CVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPP
  DFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCET
  CPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQG
  YYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFC
  YRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFD
  IHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNL
  CQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICH
  NGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSF
  FGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFR
  CICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTR
  QSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHG
  TVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIG
  NPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCP
  IGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDEN
  ECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTICQMASS
  SRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLC
  TNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRG
  YVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPS
  LCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCP
  QGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECS
  SSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSLDTEVDEENALSPE
  ACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMDSPVNMKFNLSHLGSKEHILE
  LRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTLEITSIPLYKK
  KELKKLEESNEDDYLLGELGEALRMRLQIQLY

• Sequence length: 2912

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Degradation of the extracellular matrix
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
Cerebral ischemia	Likely pathogenic	rs730882230	RCV000162150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital contractural arachnodactyly	Likely pathogenic; Pathogenic	rs1750918319, rs2126833724, rs147046215, rs2126912100, rs2126903614, rs2126854512, rs1554122857, rs886038935, rs1581226080, rs2126888942, rs137852825, rs137852826, rs587776518, rs587776519, rs2126895611, rs137852827, rs137852828, rs28931602, rs1750918931, rs2479801847, rs2479828044, rs2479717329, rs2479800482, rs2479791649, rs2479809538, rs374977692, rs2479801974, rs2479786404, rs2479809749, rs869025428, rs1085307066, rs2479287527, rs2479287232, rs2479791800, rs2479792118, rs1750668598, rs2479809648, rs2479801867, rs1750667332, rs2479809519, rs2479809369, rs2479809390, rs2479632082, rs267606802, rs2479684419, rs1060503511, rs1060503510, rs1060503498, rs1554122802, rs1554122550, rs1554123136, rs138303817, rs1554122896, rs1479056828, rs1554122897, rs1206843725, rs1561461125, rs1561758622, rs1581223990, rs1581230766, rs1750792792, rs1750812513, rs1750894751, rs1057524398, rs1749713036, rs1756369186, rs1750917259, rs1750811749	RCV001332073 RCV001378653 RCV001808146 RCV001984410 RCV001941718 RCV001914445 RCV001975155 RCV002011348 RCV002050144 RCV002031915 RCV000000548 RCV000000549 RCV000000551 RCV000000552 RCV000000553 RCV000000554 RCV000000555 RCV000000556 RCV002208744 RCV002287303 RCV002289363 RCV002290067 RCV005058366 RCV002470352 RCV003060010 RCV003037119 RCV002595063 RCV002608853 RCV002881487 RCV003010473 RCV000208190 RCV000490469 RCV003234951 RCV003334333 RCV003525570 RCV003525557 RCV003525797 RCV003527201 RCV003527574 RCV003526385 RCV003526602 RCV003526643 RCV003641750 RCV003640438 RCV003640743 RCV003989445 RCV000000557 RCV004555220 RCV000475898 RCV000468381 RCV000459072 RCV000515790 RCV002525118 RCV000556027 RCV000537065 RCV000576844 RCV001220794 RCV000633606 RCV000659615 RCV000659613 RCV000679985 RCV000703551 RCV000793416 RCV000807549 RCV001047518 RCV001065940 RCV001215872 RCV001219040 RCV001215923 RCV001204497 RCV001230303 RCV001256186 RCV003128085 RCV001270844 RCV001299697 RCV001300210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome	Likely pathogenic	rs2126960067	RCV002278028	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs1554122857, rs2479803228, rs863223570, rs2126888942, rs587776518, rs2479786545, rs1554122896, rs1554123064, rs1750917259	RCV004044394 RCV002349120 RCV002349121 RCV002332198 RCV002332222 RCV005844257 RCV002314952 RCV002313315 RCV002313340 RCV004017813	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FBN2-related disorder	Likely pathogenic	rs1554123136	RCV003409774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs730882230	RCV000162150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular degeneration, early-onset	Likely pathogenic; Pathogenic	rs1750918931, rs1750790929, rs1750891403	RCV002208744 RCV001196076 RCV001196838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1581222106	RCV000850439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal death	Likely pathogenic	rs730882230	RCV000162150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 2	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arterial dissection	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain aneurysm	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURAL ARACHNODACTYLY, CONGENITAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, type 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Loeys-Dietz syndrome	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfan syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTASSIUM DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29018259		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	22238052		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	16434186		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	24899048		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33083483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	24833718, 30044367		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	40436996	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	31426022, 33083483	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	BEFREE	27196565, 8541880		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28326854, 30482079		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	29501612		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	34356068	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28326854, 30482079		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	16781789		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	8037185		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	8037185		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	27634926		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	27634926	Stimulate	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	39226896	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18989750		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22238052, 28645247		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15951052		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24454902, 34058014, 34689221	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34504628	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25986263	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27634926	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17106180	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17426996, 28863213, 29858361, 30683435, 31200939		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	30909115		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	23011147		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	37875357	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17008631		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28596448		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	16434186		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25605008, 26873540, 27658773, 31063540, 31131678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29408647	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	27981602		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11522090		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22151003		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22238052		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22238052		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22238052, 35991839, 37214090	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31425925		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	10216958, 10633129, 10797416, 11754102, 12050213, 12383326, 12399449, 14719121, 16740166, 17708531, 19473076, 20560960, 22921888, 24585410, 24586698, 25131257, 27196565, 27658773, 27681945, 27912749, 28652576, 30038332, 31194970, 7493032, 7815423, 7963685, 8307578, 8791520, 9199560, 9714438		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	UNIPROT_DG	10797416, 11754102, 19006240, 20799338, 25834781, 27196565, 7493032, 9714438, 9737771		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	CLINVAR_DG	11285249, 11470817, 11754102, 16677079, 18767143, 30675029, 3495735, 4750422, 8900230		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	12383326, 12399449, 17106180, 18767143, 22325249, 24585410, 27196565, 28379158, 31316167, 31426022, 31506931, 33638605, 35804365, 40436996, 8900230, 9106527, 9199560	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	GENOMICS_ENGLAND_DG	20799338, 25975422, 29907982, 7493032, 9106527		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital heart disease	Congenital Heart Disease	BEFREE	11754102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	19473076, 31426022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	30675029, 31426022	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21132003, 24454902		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	22876117	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25592103		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21410987, 25592103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	36032780	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22436605, 25592103		★☆☆☆☆ Found in Text Mining only
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	7963685		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30001809		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27317422, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21611789		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21611789		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28863213, 29853429		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	24899048		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29025581		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30110382		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	29501612		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31200939		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	24265020		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	29035944		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29557416		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	16407178, 19006240, 22921888, 25975422, 8120105, 9714438		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture of hip	Flexion Contracture Of Hip	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19401404	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29454993, 30758723		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	25708657		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	39226896	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36453946	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22434388		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31131678		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	12750963, 17038484, 19506372		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30876788		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30053231		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11522090		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29035944		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28126467, 28645247, 30552477, 30600299, 30876788		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22151003		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24899048	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24899048	Associate	★☆☆☆☆ Found in Text Mining only
MACULAR DEGENERATION, EARLY-ONSET	Macular Degeneration	UNIPROT_DG	24899048		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MACULAR DEGENERATION, EARLY-ONSET	Macular Degeneration	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Major Depressive Disorder	Mental Depression	BEFREE	27893387		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18989750		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24956286		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15951052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15951052, 30038332		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20673796, 22238052, 25007141, 26792076, 29907252		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22238052		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	11754102, 12399449, 16740166, 17708531, 20161761, 20560960, 24265020, 31506931, 8307578, 9714438		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan Syndrome	Marfan Syndrome	LHGDN	16835936		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan Syndrome	Marfan syndrome	Pubtator	17106180, 25986263, 31506931, 37337404	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan Syndrome	Marfan Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10980542		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	16434186		★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	7963685		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29454647		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21410987, 31560233		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASDB_DG	23793025		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29025581, 31425925		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28383543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Marfan syndrome	Marfan Syndrome	BEFREE	10797416		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21132003, 22238052, 22552009, 24454902, 28645247, 31544304		★☆☆☆☆ 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	15951052		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34058014	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	37579195	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	35804365	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15951052, 30038332		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	25195018		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19692420	Associate	★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29089545, 30325540, 31131678		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21132003		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29454993		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	32084007	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	24833718, 34356068	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	24833718, 29501612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34693597	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	25218607	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	36958462	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	20161761		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	25894981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	BEFREE	30578393		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	27893387		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37337404	Stimulate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only