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FBLN5 (fibulin 5)

Gene

10516

Fibulin 5

FBLN5

ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50

14q32.12

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

Show/Hide all(16)

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

Show/Hide all(124)

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

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15790312, 17035250, 17581631, 19349279, 19570982, 25118846, 25910212, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0007160	Process	Cell-matrix adhesion	TAS	10428823
GO:0008022	Function	Protein C-terminus binding	IPI	15528465
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	20551380, 25037231, 28675934
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	TAS	10428823
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	19617354, 20007835
GO:0046903	Process	Secretion	IDA	20599547
GO:0048251	Process	Elastic fiber assembly	IBA	21873635
GO:0048251	Process	Elastic fiber assembly	IMP	17035250
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	17035250
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071953	Component	Elastic fiber	ISS
GO:2000121	Process	Regulation of removal of superoxide radicals	ISS

MIM	HGNC	e!Ensembl
604580	3602	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

Sequence

MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCV
NQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMD
ESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQL
CANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE
DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRS
VPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL
EMITVNTVINFRGSSVIRLRIYVSQYPF

Sequence length

448

Interactions

View interactions

	Reactome
			Elastic fibre formation Molecules associated with elastic fibres

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Age-related macular degeneration	MACULAR DEGENERATION, AGE-RELATED, 3, Age related macular degeneration, NON RARE IN EUROPE: Age-related macular degeneration	rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Cutis laxa	Cutis Laxa, Cutis Laxa, Autosomal Dominant, Cutis Laxa, Autosomal Recessive, Type I, Cutis laxa, recessive, type I, Cutis laxa, recessive, Autosomal dominant cutis laxa, Autosomal recessive cutis laxa type 1	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	22829427, 12618961, 12189163, 17035250, 18185537, 20007835, 20599547, 16691202, 22829427, 16652333, 12189163
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	12189163
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17929269
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Supravalvar aortic stenosis	Supravalvular aortic stenosis	rs137854452, rs137854453, rs2132322943, rs1563826213, rs137854454, rs137854455, rs1554686162, rs397516433, rs727503783, rs727503782, rs727503022, rs727503023, rs727503024, rs727503026, rs727503027, rs727503028, rs727503029, rs727503031, rs727503033, rs727503034, rs727503035, rs727504419, rs727504433, rs727504434, rs727504581, rs730880355, rs863223518, rs863223520, rs200862792, rs878854452, rs886039351, rs1554669800, rs1554672602, rs1554672587, rs1554666513, rs1554669297, rs1554676454, rs1400530335, rs1563836689, rs1563793627, rs1583959262, rs1584494326, rs1583818183, rs1787875866, rs1791626037, rs1794096639, rs1794104889, rs199621188, rs1795205877, rs1797063858, rs782528759, rs1797218441, rs782674700
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (23)

Unknown
Disease name	Disease term	dbSNP ID	References
Arachnodactyly	Arachnodactyly
Bladder diverticulum	Bladder Diverticulum
Bowel diverticulosis	Bowel diverticulosis
Congenital exomphalos	Congenital exomphalos
Congenital pectus excavatum	Congenital pectus excavatum
Congenital pes cavus	Congenital pes cavus
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	12189163
Distal amyotrophy	Distal amyotrophy	rs1457770815
Diverticulum of renal calyx	Diverticulum of renal calyx
Drusen	Drusen
Fibromuscular dysplasia	Fibromuscular Dysplasia
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	12189163
Hereditary sensorimotor neuropathy with hyperelastic skin	Hereditary sensorimotor neuropathy with hyperelastic skin
Ileus	Ileus
Lung diseases	Lung diseases
Neuropathy, hereditary, with or without macular degeneration	NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION		15269314, 20007835, 20599547, 23328402, 21576112, 16652333
Peripheral axonal neuropathy	Peripheral axonal neuropathy	rs202219507, rs529035174, rs758974790, rs70983380, rs761291489, rs1579721449, rs1572614757, rs777077185
Prostatic neoplasms	Prostatic Neoplasms		17929269
Ptosis	Blepharoptosis, Ptosis	rs139920573
Pulmonary stenosis	Pulmonary Stenosis
Respiratory distress syndrome	Respiratory Distress Syndrome, Adult		25070658
Respiratory failure	Respiratory Failure		12189163
Vascular diseases	Vascular Diseases		12189163

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