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PCSK5 (proprotein convertase subtilisin/kexin type 5)

Gene

Proprotein convertase subtilisin/kexin type 5

PCSK5

PC5, PC6, PC6A, SPC6

9

9q21.13

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under

Show/Hide all(244)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048298	hsa-miR-107	CLASH	23622248
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT1218486	hsa-miR-1245	CLIP-seq
MIRT1218487	hsa-miR-125a-3p	CLIP-seq
MIRT1218488	hsa-miR-1269	CLIP-seq
MIRT1218489	hsa-miR-1269b	CLIP-seq
MIRT1218490	hsa-miR-1343	CLIP-seq
MIRT1218491	hsa-miR-144	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT1218493	hsa-miR-216a	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT1218495	hsa-miR-3148	CLIP-seq
MIRT1218496	hsa-miR-3646	CLIP-seq
MIRT1218497	hsa-miR-3688-3p	CLIP-seq
MIRT1218498	hsa-miR-3690	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1218500	hsa-miR-4254	CLIP-seq
MIRT1218501	hsa-miR-4282	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT1218503	hsa-miR-451b	CLIP-seq
MIRT1218504	hsa-miR-4529-3p	CLIP-seq
MIRT1218505	hsa-miR-4693-3p	CLIP-seq
MIRT1218506	hsa-miR-4698	CLIP-seq
MIRT1218507	hsa-miR-4712-3p	CLIP-seq
MIRT1218508	hsa-miR-4731-3p	CLIP-seq
MIRT1218509	hsa-miR-4762-5p	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT1218513	hsa-miR-4801	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT1218517	hsa-miR-548c-3p	CLIP-seq
MIRT1218518	hsa-miR-548p	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT1218520	hsa-miR-579	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT1218522	hsa-miR-617	CLIP-seq
MIRT1218523	hsa-miR-720	CLIP-seq
MIRT1218524	hsa-miR-764	CLIP-seq
MIRT1218525	hsa-miR-875-3p	CLIP-seq
MIRT1218526	hsa-miR-935	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2063209	hsa-miR-1297	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT2063212	hsa-miR-26a	CLIP-seq
MIRT2063213	hsa-miR-26b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2063216	hsa-miR-3121-3p	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2063218	hsa-miR-3150a-5p	CLIP-seq
MIRT2063219	hsa-miR-3150b-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2063226	hsa-miR-4465	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2063228	hsa-miR-4716-5p	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT2063229	hsa-miR-5095	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT2063232	hsa-miR-552	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT1218520	hsa-miR-579	CLIP-seq
MIRT2063233	hsa-miR-622	CLIP-seq
MIRT2063234	hsa-miR-767-5p	CLIP-seq
MIRT2291582	hsa-miR-106a	CLIP-seq
MIRT2291583	hsa-miR-106b	CLIP-seq
MIRT1218485	hsa-miR-1184	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2291584	hsa-miR-1238	CLIP-seq
MIRT1218487	hsa-miR-125a-3p	CLIP-seq
MIRT2291585	hsa-miR-1303	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2291586	hsa-miR-150	CLIP-seq
MIRT2291587	hsa-miR-17	CLIP-seq
MIRT1218492	hsa-miR-186	CLIP-seq
MIRT2291588	hsa-miR-20a	CLIP-seq
MIRT2291589	hsa-miR-20b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2291590	hsa-miR-302a	CLIP-seq
MIRT2291591	hsa-miR-302b	CLIP-seq
MIRT2291592	hsa-miR-302c	CLIP-seq
MIRT2291593	hsa-miR-302d	CLIP-seq
MIRT2291594	hsa-miR-302e	CLIP-seq
MIRT2291595	hsa-miR-3124-3p	CLIP-seq
MIRT1218494	hsa-miR-3133	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2291596	hsa-miR-3159	CLIP-seq
MIRT2291597	hsa-miR-3616-5p	CLIP-seq
MIRT2291598	hsa-miR-3647-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2291599	hsa-miR-372	CLIP-seq
MIRT2291600	hsa-miR-373	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT1552144	hsa-miR-4264	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT1218502	hsa-miR-4418	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2291601	hsa-miR-4437	CLIP-seq
MIRT2291602	hsa-miR-4509	CLIP-seq
MIRT1218503	hsa-miR-451b	CLIP-seq
MIRT2291603	hsa-miR-4532	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2291604	hsa-miR-4666-5p	CLIP-seq
MIRT2291605	hsa-miR-4713-5p	CLIP-seq
MIRT2291606	hsa-miR-4744	CLIP-seq
MIRT1218510	hsa-miR-4763-5p	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2291607	hsa-miR-4778-3p	CLIP-seq
MIRT2291608	hsa-miR-4781-3p	CLIP-seq
MIRT2291609	hsa-miR-4795-5p	CLIP-seq
MIRT2291610	hsa-miR-485-3p	CLIP-seq
MIRT1218514	hsa-miR-509-3-5p	CLIP-seq
MIRT1218515	hsa-miR-509-5p	CLIP-seq
MIRT1218516	hsa-miR-5096	CLIP-seq
MIRT2291611	hsa-miR-519d	CLIP-seq
MIRT2291612	hsa-miR-520a-3p	CLIP-seq
MIRT2291613	hsa-miR-520b	CLIP-seq
MIRT2291614	hsa-miR-520c-3p	CLIP-seq
MIRT2291615	hsa-miR-520d-3p	CLIP-seq
MIRT2291616	hsa-miR-520e	CLIP-seq
MIRT2291617	hsa-miR-520g	CLIP-seq
MIRT2291618	hsa-miR-520h	CLIP-seq
MIRT2291619	hsa-miR-532-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT2291620	hsa-miR-573	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT1218522	hsa-miR-617	CLIP-seq
MIRT2063233	hsa-miR-622	CLIP-seq
MIRT1218524	hsa-miR-764	CLIP-seq
MIRT2291621	hsa-miR-877	CLIP-seq
MIRT2291622	hsa-miR-93	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2392223	hsa-miR-323-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2063222	hsa-miR-3909	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT1218511	hsa-miR-4772-3p	CLIP-seq
MIRT2392224	hsa-miR-541	CLIP-seq
MIRT2063231	hsa-miR-548g	CLIP-seq
MIRT1218519	hsa-miR-572	CLIP-seq
MIRT2392225	hsa-miR-654-5p	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2439227	hsa-miR-4468	CLIP-seq
MIRT2439228	hsa-miR-4690-3p	CLIP-seq
MIRT2439229	hsa-miR-4726-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2439227	hsa-miR-4468	CLIP-seq
MIRT2439228	hsa-miR-4690-3p	CLIP-seq
MIRT2439229	hsa-miR-4726-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063207	hsa-miR-1200	CLIP-seq
MIRT2589370	hsa-miR-1254	CLIP-seq
MIRT2589371	hsa-miR-129-5p	CLIP-seq
MIRT2589372	hsa-miR-3116	CLIP-seq
MIRT2589373	hsa-miR-342-5p	CLIP-seq
MIRT2589374	hsa-miR-3674	CLIP-seq
MIRT1218499	hsa-miR-3934	CLIP-seq
MIRT2589375	hsa-miR-4268	CLIP-seq
MIRT2063224	hsa-miR-4324	CLIP-seq
MIRT2589376	hsa-miR-4651	CLIP-seq
MIRT2589377	hsa-miR-4664-5p	CLIP-seq
MIRT2589378	hsa-miR-4715-3p	CLIP-seq
MIRT2589379	hsa-miR-4735-5p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2589380	hsa-miR-4794	CLIP-seq
MIRT2063229	hsa-miR-5095	CLIP-seq
MIRT2589381	hsa-miR-513a-3p	CLIP-seq
MIRT2063230	hsa-miR-544b	CLIP-seq
MIRT2063232	hsa-miR-552	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT2589382	hsa-miR-608	CLIP-seq
MIRT2589383	hsa-miR-661	CLIP-seq
MIRT2063234	hsa-miR-767-5p	CLIP-seq
MIRT2063208	hsa-miR-122	CLIP-seq
MIRT2589370	hsa-miR-1254	CLIP-seq
MIRT2589371	hsa-miR-129-5p	CLIP-seq
MIRT2063210	hsa-miR-130a	CLIP-seq
MIRT2063211	hsa-miR-130b	CLIP-seq
MIRT2063214	hsa-miR-301a	CLIP-seq
MIRT2063215	hsa-miR-301b	CLIP-seq
MIRT2589372	hsa-miR-3116	CLIP-seq
MIRT2063217	hsa-miR-3135b	CLIP-seq
MIRT2589373	hsa-miR-342-5p	CLIP-seq
MIRT2063220	hsa-miR-3652	CLIP-seq
MIRT2063221	hsa-miR-3666	CLIP-seq
MIRT2589374	hsa-miR-3674	CLIP-seq
MIRT2589375	hsa-miR-4268	CLIP-seq
MIRT2063223	hsa-miR-4295	CLIP-seq
MIRT2063225	hsa-miR-4430	CLIP-seq
MIRT2291601	hsa-miR-4437	CLIP-seq
MIRT2291603	hsa-miR-4532	CLIP-seq
MIRT2063227	hsa-miR-454	CLIP-seq
MIRT2589376	hsa-miR-4651	CLIP-seq
MIRT2589377	hsa-miR-4664-5p	CLIP-seq
MIRT2589378	hsa-miR-4715-3p	CLIP-seq
MIRT2589379	hsa-miR-4735-5p	CLIP-seq
MIRT1218512	hsa-miR-4775	CLIP-seq
MIRT2589380	hsa-miR-4794	CLIP-seq
MIRT2589381	hsa-miR-513a-3p	CLIP-seq
MIRT1218521	hsa-miR-590-3p	CLIP-seq
MIRT2589382	hsa-miR-608	CLIP-seq
MIRT2589383	hsa-miR-661	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IMP	18519639
GO:0001822	Process	Kidney development	ISS	8940009
GO:0002001	Process	Renin secretion into blood stream	IEP	8901832
GO:0004175	Function	Endopeptidase activity	EXP	16109723, 20581395
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0004252	Function	Serine-type endopeptidase activity	IDA	8901832
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	ISS	8940009
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	TAS	8947550
GO:0005796	Component	Golgi lumen	TAS
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0006465	Process	Signal peptide processing	IDA	16912035
GO:0007267	Process	Cell-cell signaling	TAS	8901832
GO:0007507	Process	Heart development	ISS	8940009
GO:0007566	Process	Embryo implantation	ISS	8940009
GO:0008233	Function	Peptidase activity	IDA	15606899
GO:0009952	Process	Anterior/posterior pattern specification	IMP	18519639
GO:0016020	Component	Membrane	IBA	21873635
GO:0016485	Process	Protein processing	IBA	21873635
GO:0016485	Process	Protein processing	IDA	8901832, 15606899
GO:0016486	Process	Peptide hormone processing	IBA	21873635
GO:0016486	Process	Peptide hormone processing	IDA	8901832
GO:0019058	Process	Viral life cycle	IEP	8940009
GO:0019058	Process	Viral life cycle	ISS	8940009
GO:0030141	Component	Secretory granule	ISS
GO:0030173	Component	Integral component of Golgi membrane	IBA	21873635
GO:0030323	Process	Respiratory tube development	ISS	8940009
GO:0032455	Process	Nerve growth factor processing	TAS
GO:0035108	Process	Limb morphogenesis	ISS	8940009
GO:0042277	Function	Peptide binding	ISS	8940009
GO:0043043	Process	Peptide biosynthetic process	IDA	8901832
GO:0048566	Process	Embryonic digestive tract development	IMP	18519639
GO:0048566	Process	Embryonic digestive tract development	ISS	8940009
GO:0048706	Process	Embryonic skeletal system development	IMP	18519639
GO:0048706	Process	Embryonic skeletal system development	ISS	8940009
GO:0051004	Process	Regulation of lipoprotein lipase activity	TAS
GO:0140447	Process	Cytokine precursor processing	ISS	8940009

MIM	HGNC	e!Ensembl
600488	8747	ENSG00000099139

Protein

UniProt ID

Protein name

Proprotein convertase subtilisin/kexin type 5 (EC 3.4.21.-) (Proprotein convertase 5) (PC5) (Proprotein convertase 6) (PC6) (hPC6) (Subtilisin/kexin-like protease PC5)

Protein function

Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnanc

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16470	S8_pro-domain	38 → 114	Peptidase S8 pro-domain	Domain
PF00082	Peptidase_S8	162 → 445	Subtilase family	Domain
PF01483	P_proprotein	505 → 595	Proprotein convertase P-domain	Family
PF14843	GF_recep_IV	635 → 756	Growth factor receptor domain IV	Domain

Sequence

MGWGSRCCCPGRLDLLCVLALLGGCLLPVCRTRVYTNHWAVKIAGGFPEANRIASKYGFI
NIGQIGALKDYYHFYHSRTIKRSVISSRGTHSFISMEPKVEWIQQQVVKKRTKRDYDFSR
AQSTYFNDPKWPSMWYMHCSDNTHPCQSDMNIEGAWKRGYTGKNIVVTILDDGIERTHPD
LMQNYDALASCDVNGNDLDPMPRYDASNENKHGTRCAGEVAAAANNSHCTVGIAFNAKIG
GVRMLDGDVTDMVEAKSVSFNPQHVHIYSASWGPDDDGKTVDGPAPLTRQAFENGVRMGR
RGLGSVFVWASGNGGRSKDHCSCDGYTNSIYTISISSTAESGKKPWYLEECSSTLATTYS
SGESYDKKIITTDLRQRCTDNHTGTSASAPMAAGIIALALEANPFLTWRDVQHVIVRTSR
AGHLNANDWKTNAAGFKVSHLYGFGLMDAEAMVMEAEKWTTVPRQHVCVESTDRQIKTIR
PNSAVRSIYKASGCSDNPNRHVNYLEHVVVRITITHPRRGDLAIYLTSPSGTRSQLLANR
LFDHSMEGFKNWEFMTIHCWGERAAGDWVLEVYDTPSQLRNFKTPGKLKEWSLVLYGTSV
QPYSPTNEFPKVERFRYSRVEDPTDDYGTEDYAGPCDPECSEVGCDGPGPDHCNDCLHYY
YKLKNNTRICVSSCPPGHYHADKKRCRKCAPNCESCFGSHGDQCMSCKYGYFLNEETNSC
VTHCPDGSYQDTKKNLCRKCSENCKTCTEFHNCTECRDGLSLQGSRCSVSCEDGRYFNGQ
DCQPCHRFCATCAGAGADGCINCTEGYFMEDGRCVQSCSISYYFDHSSENGYKSCKKCDI
SCLTCNGPGFKNCTSCPSGYLLDLGMCQMGAICKDGEYVDEHGHCQTCEASCAKCQGPTQ
EDCTTCPMTRIFDDGRCVSNCPSWKFEFENQCHPCHHTCQRCQGSGPTHCTSCGADNYGR
EHFLYQGECGDSCPEGHYATEGNTCLPCPDNCELCHSVHVCTRCMKGYFIAPTNHTCQKL
ECGQGEVQDPDYEECVPCEEGCLGCSLDDPGTCTSCAMGYYRFDHHCYKTCPEKTYSEEV
ECKACDSNCGSCDQNGCYWCEEGFFLLGGSCVRKCGPGFYGDQEMGECESCHRACETCTG
PGHDECSSCQEGLQLLRGMCVHATKTQEEGKFWNDILRKLQPCHSSCKTCNGSATLCTSC
PKGAYLLAQACVSSCPQGTWPSVRSGSCENCTEACAICSGADLCKKCQMQPGHPLFLHEG
RCYSKCPEGSYAEDGICERCSSPCRTCEGNATNCHSCEGGHVLHHGVCQENCPERHVAVK
GVCKHCPEMCQDCIHEKTCKECTPEFFLHDDMCHQSCPRGFYADSRHCVPCHKDCLECSG
PKADDCELCLESSWVLYDGLCLEECPAGTYYEKETKECRDCHKSCLTCSSSGTCTTCQKG
LIMNPRGSCMANEKCSPSEYWDEDAPGCKPCHVKCFHCMGPAEDQCQTCPMNSLLLNTTC
VKDCPEGYYADEDSNRCAHCHSSCRTCEGRHSRQCHSCRPGWFQLGKECLLQCREGYYAD
NSTGRCERCNRSCKGCQGPRPTDCLSCDRFFFLLRSKGECHRSCPDHYYVEQSTQTCERC
HPTCDQCKGKGALNCLSCVWSYHLMGGICTSDCLVGEYRVGEGEKFNCEKCHESCMECKG
PGAKNCTLCPANLVLHMDDSHCLHCCNTSDPPSAQECCDCQDTTDECILRTSKVRPATEH
FKTALFITSSMMLVLLLGAAVVVWKKSRGRVQPAAKAGYEKLADPNKSYSSYKSSYREST
SFEEDQVIEYRDRDYDEDDDDDIVYMGQDGTVYRKFKYGLLDDDDIDELEYDDESYSYYQ

Sequence length

1860

Interactions

View interactions

	Reactome
			NGF processing Assembly of active LPL and LIPC lipase complexes

Associated diseases

Show/Hide Causal Diseases (5)

Causal
Disease name	Disease term	dbSNP ID	References
Currarino triad	Currarino triad	rs121912546, rs121912547, rs1563700090, rs1563700419, rs121912548, rs121912549, rs1554594329	18519639
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	18519639
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Vacterl association	VATER Association	rs752504125, rs869320684, rs776556963	18519639
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775	18519639

Show/Hide Unknown Diseases (14)

Unknown
Disease name	Disease term	dbSNP ID	References
Bone disease	Bone Diseases, Developmental		18519639
Congenital exomphalos	Congenital exomphalos		18519639
Congenital omphalocele	Congenital omphalocele		18519639
Diverticular diseases	Diverticular Diseases		30177863
Heart septal defects	Heart Septal Defects		18519639
Imperforate anus	Anus, Imperforate		18519639
Jaw abnormalities	Jaw Abnormalities		18519639
Lower extremity deformities	Lower Extremity Deformities, Congenital		18519639
Lumbosacral agenesis	Lumbosacral agenesis		18519639
Lung diseases	Lung diseases		18519639
Mouth abnormalities	Mouth Abnormalities		18519639
Sacral agenesis	Sacral agenesis		18519639
Sacral defect with anterior meningocele	Sacral defect and anterior sacral meningocele	rs142594314, rs34768472, rs761123443, rs116216703, rs368722418, rs370321176, rs193075321, rs886045122, rs886045123, rs117337677, rs886045130, rs146730302, rs540290490, rs114921471, rs886045135, rs10923204, rs886045136, rs76160883, rs74117023, rs886045145, rs886045146, rs10801933, rs886045150, rs181588954, rs559438343, rs201840785, rs4839469, rs190792695, rs41310108, rs3811012, rs75277108, rs546423374, rs150705915, rs886045126, rs114033235, rs886045129, rs41299571, rs3811008, rs61732170, rs187286147, rs886045138, rs886045142, rs17034226, rs75064936, rs142497673, rs4548441, rs886045149, rs536289395, rs77318780, rs17034249, rs191609592, rs34059106, rs886045121, rs3811011, rs6700610, rs41312690, rs546932643, rs3204955, rs886045127, rs886045128, rs3811010, rs746455152, rs74117021, rs188964296, rs148944333, rs12121158, rs886045134, rs143712039, rs4839472, rs886045139, rs17034228, rs868558700, rs762453158, rs4348723, rs868196412, rs886045117, rs181583261, rs4595366, rs867892644, rs781010619, rs561312836, rs886045119, rs140485834, rs3811013, rs41299565, rs562969850, rs886045125, rs6428677, rs3811006, rs149888685, rs886045152, rs886045153, rs886045131, rs886045132, rs886045133, rs746958675, rs886045143, rs751663783, rs549041171, rs17034230, rs10494179, rs192325588, rs184708484, rs3811007, rs886045151, rs143196463, rs141673853, rs200389969, rs41275546, rs79828493, rs186509771, rs140451005, rs563855412, rs575493003, rs61734296, rs78535164, rs146723580, rs759094384, rs577862345, rs771534557, rs201698322, rs555914402, rs868487713, rs145309218, rs543050989, rs147220426, rs1198149468, rs775571796, rs145137292, rs200739468, rs375459125, rs577473121, rs1460622785, rs1653840369, rs768206672, rs142123586, rs1653892014, rs752428680, rs756347879, rs146512242, rs143344734, rs181543393, rs531884184, rs1653939278, rs1653943896, rs565246095, rs900018260, rs1653955779, rs1040113254, rs148126079, rs1457146079, rs551091101, rs1378359750, rs140931431, rs544552151, rs555833838, rs146435279, rs757056873, rs1368816704, rs115376031, rs528983735, rs755509900, rs1028169993, rs961390698, rs777221691, rs138485279, rs148437823, rs1027382711, rs117347999, rs1432374941, rs968357183, rs1654092548, rs562835629, rs1056160668	18519639
Takayasu arteritis	Takayasu Arteritis		25604533

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