CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)

Gene

• Entrez ID: 9620
• Gene name: Cadherin EGF LAG seven-pass G-type receptor 1
• Gene symbol: CELSR1
• Synonyms (NCBI Gene): ADGRC1, CDHF9, FMI2, HFMI2, LMPHM9, ME2
• Chromosome: 22
• Chromosome location: 22q13.31
• Summary: The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are locate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786201015	->CA	Risk-factor	Frameshift variant, coding sequence variant
rs786201016	CA>-	Risk-factor	Frameshift variant, coding sequence variant
rs1569124017	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1569133268	C>G	Likely-pathogenic	Splice acceptor variant
rs1569141899	A>T	Pathogenic	Splice donor variant
rs1569226110	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1569227576	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049355	hsa-miR-92a-3p	CLASH	23622248
MIRT040199	hsa-miR-615-3p	CLASH	23622248
MIRT884224	hsa-miR-1200	CLIP-seq
MIRT884225	hsa-miR-1202	CLIP-seq
MIRT884226	hsa-miR-1227	CLIP-seq
MIRT884227	hsa-miR-124	CLIP-seq
MIRT884228	hsa-miR-125a-5p	CLIP-seq
MIRT884229	hsa-miR-125b	CLIP-seq
MIRT884230	hsa-miR-127-5p	CLIP-seq
MIRT884231	hsa-miR-133a	CLIP-seq
MIRT884232	hsa-miR-133b	CLIP-seq
MIRT884233	hsa-miR-1343	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT884235	hsa-miR-22	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT884237	hsa-miR-296-5p	CLIP-seq
MIRT884238	hsa-miR-3140-5p	CLIP-seq
MIRT884239	hsa-miR-3163	CLIP-seq
MIRT884240	hsa-miR-3181	CLIP-seq
MIRT884241	hsa-miR-3185	CLIP-seq
MIRT884242	hsa-miR-3187-3p	CLIP-seq
MIRT884243	hsa-miR-3192	CLIP-seq
MIRT884244	hsa-miR-3194-5p	CLIP-seq
MIRT884245	hsa-miR-3622a-3p	CLIP-seq
MIRT884246	hsa-miR-3622b-3p	CLIP-seq
MIRT884247	hsa-miR-3646	CLIP-seq
MIRT884248	hsa-miR-3650	CLIP-seq
MIRT884249	hsa-miR-3652	CLIP-seq
MIRT884250	hsa-miR-3662	CLIP-seq
MIRT884251	hsa-miR-3670	CLIP-seq
MIRT884252	hsa-miR-3692	CLIP-seq
MIRT884253	hsa-miR-3714	CLIP-seq
MIRT884254	hsa-miR-3910	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT884256	hsa-miR-3972	CLIP-seq
MIRT884257	hsa-miR-410	CLIP-seq
MIRT884258	hsa-miR-4319	CLIP-seq
MIRT884259	hsa-miR-4330	CLIP-seq
MIRT884260	hsa-miR-4430	CLIP-seq
MIRT884261	hsa-miR-4435	CLIP-seq
MIRT884262	hsa-miR-4470	CLIP-seq
MIRT884263	hsa-miR-4486	CLIP-seq
MIRT884264	hsa-miR-4490	CLIP-seq
MIRT884265	hsa-miR-4492	CLIP-seq
MIRT884266	hsa-miR-4496	CLIP-seq
MIRT884267	hsa-miR-4498	CLIP-seq
MIRT884268	hsa-miR-4508	CLIP-seq
MIRT884269	hsa-miR-4527	CLIP-seq
MIRT884270	hsa-miR-4529-5p	CLIP-seq
MIRT884271	hsa-miR-4539	CLIP-seq
MIRT884272	hsa-miR-4680-5p	CLIP-seq
MIRT884273	hsa-miR-4688	CLIP-seq
MIRT884274	hsa-miR-4698	CLIP-seq
MIRT884275	hsa-miR-4701-5p	CLIP-seq
MIRT884276	hsa-miR-4707-3p	CLIP-seq
MIRT884277	hsa-miR-4709-3p	CLIP-seq
MIRT884278	hsa-miR-4749-3p	CLIP-seq
MIRT884279	hsa-miR-4756-3p	CLIP-seq
MIRT884280	hsa-miR-4760-3p	CLIP-seq
MIRT884281	hsa-miR-4763-5p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT884283	hsa-miR-506	CLIP-seq
MIRT884284	hsa-miR-548l	CLIP-seq
MIRT884285	hsa-miR-548n	CLIP-seq
MIRT884286	hsa-miR-548p	CLIP-seq
MIRT884287	hsa-miR-548s	CLIP-seq
MIRT884288	hsa-miR-548t	CLIP-seq
MIRT884289	hsa-miR-552	CLIP-seq
MIRT884290	hsa-miR-568	CLIP-seq
MIRT884291	hsa-miR-588	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT884293	hsa-miR-661	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT884295	hsa-miR-744	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT884297	hsa-miR-762	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884299	hsa-miR-9	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT884225	hsa-miR-1202	CLIP-seq
MIRT1962180	hsa-miR-1253	CLIP-seq
MIRT1962181	hsa-miR-1254	CLIP-seq
MIRT1962182	hsa-miR-1257	CLIP-seq
MIRT1962183	hsa-miR-1270	CLIP-seq
MIRT1962184	hsa-miR-1285	CLIP-seq
MIRT1962185	hsa-miR-1293	CLIP-seq
MIRT884233	hsa-miR-1343	CLIP-seq
MIRT1962186	hsa-miR-141	CLIP-seq
MIRT1962187	hsa-miR-146b-3p	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT1962188	hsa-miR-1915	CLIP-seq
MIRT1962189	hsa-miR-199a-5p	CLIP-seq
MIRT1962190	hsa-miR-199b-5p	CLIP-seq
MIRT1962191	hsa-miR-200a	CLIP-seq
MIRT884235	hsa-miR-22	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT884237	hsa-miR-296-5p	CLIP-seq
MIRT1962192	hsa-miR-3116	CLIP-seq
MIRT1962193	hsa-miR-3135	CLIP-seq
MIRT1962194	hsa-miR-3144-5p	CLIP-seq
MIRT1962195	hsa-miR-3150a-3p	CLIP-seq
MIRT1962196	hsa-miR-3173-5p	CLIP-seq
MIRT1962197	hsa-miR-3175	CLIP-seq
MIRT1962198	hsa-miR-3180	CLIP-seq
MIRT1962199	hsa-miR-3180-3p	CLIP-seq
MIRT1962200	hsa-miR-3184	CLIP-seq
MIRT1962201	hsa-miR-3187-5p	CLIP-seq
MIRT1962202	hsa-miR-3191	CLIP-seq
MIRT884244	hsa-miR-3194-5p	CLIP-seq
MIRT1962203	hsa-miR-3196	CLIP-seq
MIRT1962204	hsa-miR-323-5p	CLIP-seq
MIRT1962205	hsa-miR-326	CLIP-seq
MIRT1962206	hsa-miR-330-5p	CLIP-seq
MIRT884248	hsa-miR-3650	CLIP-seq
MIRT1962207	hsa-miR-3688-5p	CLIP-seq
MIRT1962208	hsa-miR-377	CLIP-seq
MIRT1962209	hsa-miR-378g	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT884256	hsa-miR-3972	CLIP-seq
MIRT1962210	hsa-miR-423-5p	CLIP-seq
MIRT1962211	hsa-miR-4254	CLIP-seq
MIRT1962212	hsa-miR-4436b-5p	CLIP-seq
MIRT1962213	hsa-miR-4473	CLIP-seq
MIRT1962214	hsa-miR-4483	CLIP-seq
MIRT884263	hsa-miR-4486	CLIP-seq
MIRT1962215	hsa-miR-4494	CLIP-seq
MIRT1962216	hsa-miR-4651	CLIP-seq
MIRT1962217	hsa-miR-4652-5p	CLIP-seq
MIRT1962218	hsa-miR-4667-5p	CLIP-seq
MIRT1962219	hsa-miR-4683	CLIP-seq
MIRT1962220	hsa-miR-4700-5p	CLIP-seq
MIRT1962221	hsa-miR-4710	CLIP-seq
MIRT1962222	hsa-miR-4728-5p	CLIP-seq
MIRT884281	hsa-miR-4763-5p	CLIP-seq
MIRT1962223	hsa-miR-4787-5p	CLIP-seq
MIRT1962224	hsa-miR-4793-3p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT1962225	hsa-miR-499a-5p	CLIP-seq
MIRT1962226	hsa-miR-508-5p	CLIP-seq
MIRT1962227	hsa-miR-512-3p	CLIP-seq
MIRT1962228	hsa-miR-520a-5p	CLIP-seq
MIRT1962229	hsa-miR-520f	CLIP-seq
MIRT1962230	hsa-miR-525-5p	CLIP-seq
MIRT1962231	hsa-miR-548c-3p	CLIP-seq
MIRT884289	hsa-miR-552	CLIP-seq
MIRT1962232	hsa-miR-579	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT1962233	hsa-miR-608	CLIP-seq
MIRT1962234	hsa-miR-609	CLIP-seq
MIRT1962235	hsa-miR-612	CLIP-seq
MIRT1962236	hsa-miR-620	CLIP-seq
MIRT884293	hsa-miR-661	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT1962237	hsa-miR-711	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT1962238	hsa-miR-874	CLIP-seq
MIRT1962239	hsa-miR-876-3p	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT1962240	hsa-miR-939	CLIP-seq
MIRT1962241	hsa-miR-942	CLIP-seq
MIRT2198689	hsa-miR-1178	CLIP-seq
MIRT884227	hsa-miR-124	CLIP-seq
MIRT2198690	hsa-miR-1289	CLIP-seq
MIRT2198691	hsa-miR-1297	CLIP-seq
MIRT2198692	hsa-miR-132	CLIP-seq
MIRT1962186	hsa-miR-141	CLIP-seq
MIRT2198693	hsa-miR-149	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT1962188	hsa-miR-1915	CLIP-seq
MIRT2198694	hsa-miR-19a	CLIP-seq
MIRT2198695	hsa-miR-19b	CLIP-seq
MIRT1962191	hsa-miR-200a	CLIP-seq
MIRT2198696	hsa-miR-212	CLIP-seq
MIRT2198697	hsa-miR-23a	CLIP-seq
MIRT2198698	hsa-miR-23b	CLIP-seq
MIRT2198699	hsa-miR-23c	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT2198700	hsa-miR-26a	CLIP-seq
MIRT2198701	hsa-miR-26b	CLIP-seq
MIRT2198702	hsa-miR-3064-5p	CLIP-seq
MIRT2198703	hsa-miR-3065-3p	CLIP-seq
MIRT2198704	hsa-miR-3117-3p	CLIP-seq
MIRT2198705	hsa-miR-3119	CLIP-seq
MIRT2198706	hsa-miR-3136-5p	CLIP-seq
MIRT2198707	hsa-miR-3138	CLIP-seq
MIRT1962194	hsa-miR-3144-5p	CLIP-seq
MIRT2198708	hsa-miR-3169	CLIP-seq
MIRT1962202	hsa-miR-3191	CLIP-seq
MIRT2198709	hsa-miR-3198	CLIP-seq
MIRT1962205	hsa-miR-326	CLIP-seq
MIRT1962206	hsa-miR-330-5p	CLIP-seq
MIRT2198710	hsa-miR-33a	CLIP-seq
MIRT2198711	hsa-miR-33b	CLIP-seq
MIRT884245	hsa-miR-3622a-3p	CLIP-seq
MIRT884246	hsa-miR-3622b-3p	CLIP-seq
MIRT884253	hsa-miR-3714	CLIP-seq
MIRT884254	hsa-miR-3910	CLIP-seq
MIRT2198712	hsa-miR-3911	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT2198713	hsa-miR-4279	CLIP-seq
MIRT2198714	hsa-miR-4294	CLIP-seq
MIRT2198715	hsa-miR-4302	CLIP-seq
MIRT2198716	hsa-miR-4309	CLIP-seq
MIRT2198717	hsa-miR-4418	CLIP-seq
MIRT2198718	hsa-miR-4428	CLIP-seq
MIRT2198719	hsa-miR-4439	CLIP-seq
MIRT2198720	hsa-miR-4465	CLIP-seq
MIRT884264	hsa-miR-4490	CLIP-seq
MIRT2198721	hsa-miR-4643	CLIP-seq
MIRT1962217	hsa-miR-4652-5p	CLIP-seq
MIRT1962218	hsa-miR-4667-5p	CLIP-seq
MIRT1962220	hsa-miR-4700-5p	CLIP-seq
MIRT2198722	hsa-miR-4706	CLIP-seq
MIRT2198723	hsa-miR-4722-5p	CLIP-seq
MIRT1962222	hsa-miR-4728-5p	CLIP-seq
MIRT2198724	hsa-miR-4749-5p	CLIP-seq
MIRT2198725	hsa-miR-4759	CLIP-seq
MIRT2198726	hsa-miR-4794	CLIP-seq
MIRT2198727	hsa-miR-4800-5p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT2198728	hsa-miR-495	CLIP-seq
MIRT2198729	hsa-miR-505	CLIP-seq
MIRT884283	hsa-miR-506	CLIP-seq
MIRT2198730	hsa-miR-509-3-5p	CLIP-seq
MIRT2198731	hsa-miR-509-5p	CLIP-seq
MIRT2198732	hsa-miR-584	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT2198733	hsa-miR-644	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT1962237	hsa-miR-711	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT2198734	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	ISS
GO:0001764	Process	Neuron migration	ISS
GO:0001843	Process	Neural tube closure	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007266	Process	Rho protein signal transduction	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007417	Process	Central nervous system development	TAS	10716726
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10716726
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0042249	Process	Establishment of planar polarity of embryonic epithelium	ISS
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045176	Process	Apical protein localization	ISS
GO:0048105	Process	Establishment of body hair planar orientation	ISS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060488	Process	Orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS
GO:0060489	Process	Planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS
GO:0060490	Process	Lateral sprouting involved in lung morphogenesis	ISS
GO:0090251	Process	Protein localization involved in establishment of planar polarity	ISS

Other IDs

• MIM: 604523
• HGNC: 1850
• e!Ensembl: ENSG00000075275

Protein

• UniProt ID: Q9NYQ6
• Protein name: Cadherin EGF LAG seven-pass G-type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)
• Protein function: Receptor that may have an important role in cell/cell signaling during nervous system formation.
• PDB: 7SZ8, 8D40
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	250 → 344	Cadherin domain	Domain
  PF00028	Cadherin	358 → 450	Cadherin domain	Domain
  PF00028	Cadherin	464 → 556	Cadherin domain	Domain
  PF00028	Cadherin	570 → 678	Cadherin domain	Domain
  PF00028	Cadherin	692 → 780	Cadherin domain	Domain
  PF00028	Cadherin	794 → 883	Cadherin domain	Domain
  PF00028	Cadherin	897 → 990	Cadherin domain	Domain
  PF00028	Cadherin	1005 → 1092	Cadherin domain	Domain
  PF00008	EGF	1407 → 1439	EGF-like domain	Domain
  PF02210	Laminin_G_2	1470 → 1629	Laminin G domain	Domain
  PF00008	EGF	1653 → 1683	EGF-like domain	Domain
  PF02210	Laminin_G_2	1719 → 1849	Laminin G domain	Domain
  PF00053	Laminin_EGF	2003 → 2049	Laminin EGF domain	Domain
  PF02793	HRM	2052 → 2107	Hormone receptor domain	Family
  PF16489	GAIN	2130 → 2381	GPCR-Autoproteolysis INducing (GAIN) domain	Domain
  PF01825	GPS	2409 → 2454	GPCR proteolysis site, GPS, motif	Motif
  PF00002	7tm_2	2465 → 2697	7 transmembrane receptor (Secretin family)	Family

• Sequence:

  MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRA
  PRELLDVGRDGRLAGRRRVSGAGRPLPLQVRLVARSAPTALSRRLRARTHLPGCGARARL
  CGTGARLCGALCFPVPGGCAAAQHSALAAPTTLPACRCPPRPRPRCPGRPICLPPGGSVR
  LRLLCALRRAAGAVRVGLALEAATAGTPSASPSPSPPLPPNLPEARAGPARRARRGTSGR
  GSLKFPMPNYQVALFENEPAGTLILQLHAHYTIEGEEERVSYYMEGLFDERSRGYFRIDS
  ATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVKDTNDHSPVFEQSEYRE
  RVRENLEVGYEVLTIRASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEA
  AEYQLLVEANDQGRNPGPLSATATVYIEVEDENDNYPQFSEQNYVVQVPEDVGLNTAVLR
  VQATDRDQGQNAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFEDVQKYSLSIKAQDGG
  RPPLINSSGVVSVQVLDVNDNEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARL
  HYRLVDTASTFLGGGSAGPKNPAPTPDFPFQIHNSSGWITVCAELDREEVEHYSFGVEAV
  DHGSPPMSSSTSVSITVLDVNDNDPVFTQPTYELRLNEDAAVGSSVLTLQARDRDANSVI
  TYQLTGGNTRNRFALSSQRGGGLITLALPLDYKQEQQYVLAVTASDGTRSHTAHVLINVT
  DANTHRPVFQSSHYTVSVSEDRPVGTSIATLSANDEDTGENARITYVIQDPVPQFRIDPD
  SGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILILDANDNAPQFLWDFYQGS
  IFEDAPPSTSILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDREN
  VAVYNLWALAVDRGSPTPLSASVEIQVTILDINDNAPMFEKDELELFVEENNPVGSVVAK
  IRANDPDEGPNAQIMYQIVEGDMRHFFQLDLLNGDLRAMVELDFEVRREYVLVVQATSAP
  LVSRATVHILLVDQNDNPPVLPDFQILFNNYVTNKSNSFPTGVIGCIPAHDPDVSDSLNY
  TFVQGNELRLLLLDPATGELQLSRDLDNNRPLEALMEVSVSDGIHSVTAFCTLRVTIITD
  DMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNV
  TFSALLPGGVRGQFFPSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVS
  VLRFDSSAPFLSSTTVLFRPIHPINGLRCRCPPGFTGDYCETEIDLCYSDPCGANGRCRS
  REGGYTCECFEDFTGEHCEVDARSGRCANGVCKNGGTCVNLLIGGFHCVCPPGEYERPYC
  EVTTRSFPPQSFVTFRGLRQRFHFTISLTFATQERNGLLLYNGRFNEKHDFIALEIVDEQ
  VQLTFSAGETTTTVAPKVPSGVSDGRWHSVQVQYYNKPNIGHLGLPHGPSGEKMAVVTVD
  DCDTTMAVRFGKDIGNYSCAAQGTQTGSKKSLDLTGPLLLGGVPNLPEDFPVHNRQFVGC
  MRNLSVDGKNVDMAGFIANNGTREGCAARRNFCDGRRCQNGGTCVNRWNMYLCECPLRFG
  GKNCEQAMPHPQLFSGESVVSWSDLNIIISVPWYLGLMFRTRKEDSVLMEATSGGPTSFR
  LQILNNYLQFEVSHGPSDVESVMLSGLRVTDGEWHHLLIELKNVKEDSEMKHLVTMTLDY
  GMDQNKADIGGMLPGLTVRSVVVGGASEDKVSVRRGFRGCMQGVRMGGTPTNVATLNMNN
  ALKVRVKDGCDVDDPCTSSPCPPNSRCHDAWEDYSCVCDKGYLGINCVDACHLNPCENMG
  ACVRSPGSPQGYVCECGPSHYGPYCENKLDLPCPRGWWGNPVCGPCHCAVSKGFDPDCNK
  TNGQCQCKENYYKLLAQDTCLPCDCFPHGSHSRTCDMATGQCACKPGVIGRQCNRCDNPF
  AEVTTLGCEVIYNGCPKAFEAGIWWPQTKFGQPAAVPCPKGSVGNAVRHCSGEKGWLPPE
  LFNCTTISFVDLRAMNEKLSRNETQVDGARALQLVRALRSATQHTGTLFGNDVRTAYQLL
  GHVLQHESWQQGFDLAATQDADFHEDVIHSGSALLAPATRAAWEQIQRSEGGTAQLLRRL
  EGYFSNVARNVRRTYLRPFVIVTANMILAVDIFDKFNFTGARVPRFDTIHEEFPRELESS
  VSFPADFFRPPEEKEGPLLRPAGRRTTPQTTRPGPGTEREAPISRRRRHPDDAGQFAVAL
  VIIYRTLGQLLPERYDPDRRSLRLPHRPIINTPMVSTLVYSEGAPLPRPLERPVLVEFAL
  LEVEERTKPVCVFWNHSLAVGGTGGWSARGCELLSRNRTHVACQCSHTASFAVLMDISRR
  ENGEVLPLKIVTYAAVSLSLAALLVAFVLLSLVRMLRSNLHSIHKHLAVALFLSQLVFVI
  GINQTENPFLCTVVAILLHYIYMSTFAWTLVESLHVYRMLTEVRNIDTGPMRFYYVVGWG
  IPAIVTGLAVGLDPQGYGNPDFCWLSLQDTLIWSFAGPIGAVIIINTVTSVLSAKVSCQR
  KHHYYGKKGIVSLLRTAFLLLLLISATWLLGLLAVNRDALSFHYLFAIFSGLQGPFVLLF
  HCVLNQEVRKHLKGVLGGRKLHLEDSATTRATLLTRSLNCNTTFGDGPDMLRTDLGESTA
  SLDSIVRDEGIQKLGVSSGLVRGSHGEPDASLMPRSCKDPPGHDSDSDSELSLDEQSSSY
  ASSHSSDSEDDGVGAEEKWDPARGAVHSTPKGDAVANHVPAGWPDQSLAESDSEDPSGKP
  RLKVETKVSVELHREEQGSHRGEYPPDQESGGAARLASSQPPEQRKGILKNKVTYPPPLT
  LTEQTLKGRLREKLADCEQSPTSSRTSSLGSGGPDCAITVKSPGREPGRDHLNGVAMNVR
  TGSAQADGSDSEKP

• Sequence length: 3014

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
Lymphatic malformation	Likely pathogenic; Pathogenic	rs1569227576, rs1569133268, rs1569226110, rs1569141899, rs1569124017	RCV001787353 RCV001787354 RCV001787355 RCV001787356 RCV001787357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphatic malformation 9	Pathogenic; Likely pathogenic	rs2147265140, rs2147324428, rs754833774, rs1569227576, rs1569141899, rs1569124017	RCV001418322 RCV001418328 RCV004017204 RCV001418327 RCV001418323 RCV001418325	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELSR1-associated congenital heartdefects	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELSR1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heterotaxy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOID LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild to moderate NDD	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural tube defects, susceptibility to	risk factor	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe NDD	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe NDD, epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Walker-Warburg congenital muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
YELLOW NAIL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anencephaly	Anencephaly	BEFREE	29573971		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	Pubtator	29573971	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25117632	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	40774958	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	22887771	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25117632, 25855559	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21511255		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27854507		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33428592	Associate	★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	BEFREE	22095531, 23024041		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	17671748		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	31113495		★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia lymphedema syndrome	Hennekam syndrome	Pubtator	34128868	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19403135, 21511255, 25117632		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21500188		★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	34128868, 35948757	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	24185611		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23024041		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29257130		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	GENOMICS_ENGLAND_DG	31215153		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22095531, 22371354, 29618362		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29573971, 29618362	Associate	★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	27250000		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28159525, 29463853		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29687770	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27854507	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12782967		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Catatonic	Schizophrenia	BEFREE	11807409		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	24632739, 27597235, 29573971		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	33435129	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31113495	Associate	★☆☆☆☆ Found in Text Mining only