Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4038
Gene name Gene Name - the full gene name approved by the HGNC.	LDL receptor related protein 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LRP4
Synonyms (NCBI Gene) Gene synonyms aliases	CLSS, CMS17, LRP-4, LRP10, MEGF7, SOST2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CLSS, CMS17, SOST2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61742871	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138589242	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs144974139	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs147353838	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs148557097	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs150681693	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151234321	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267607220	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs267607221	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs267607222	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant
rs267607223	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs267607224	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs372210790	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387906883	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs387906884	G>A	Pathogenic	Missense variant, coding sequence variant
rs746136135	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762425885	C>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs780336679	C>T	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs786205153	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565785959	C>A	Pathogenic	Coding sequence variant, stop gained
rs1565801326	C>T	Pathogenic	Intron variant, genic upstream transcript variant

Show/Hide all(152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004194	hsa-miR-197-3p	Microarray	16822819
MIRT019394	hsa-miR-148b-3p	Microarray	17612493
MIRT029485	hsa-miR-26b-5p	Microarray	19088304
MIRT004194	hsa-miR-197-3p	CLASH	23622248
MIRT1118060	hsa-miR-106a	CLIP-seq
MIRT1118061	hsa-miR-106b	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118065	hsa-miR-148a	CLIP-seq
MIRT1118066	hsa-miR-148b	CLIP-seq
MIRT1118067	hsa-miR-152	CLIP-seq
MIRT1118068	hsa-miR-17	CLIP-seq
MIRT1118069	hsa-miR-197	CLIP-seq
MIRT1118070	hsa-miR-20a	CLIP-seq
MIRT1118071	hsa-miR-20b	CLIP-seq
MIRT1118072	hsa-miR-302a	CLIP-seq
MIRT1118073	hsa-miR-302b	CLIP-seq
MIRT1118074	hsa-miR-302c	CLIP-seq
MIRT1118075	hsa-miR-302d	CLIP-seq
MIRT1118076	hsa-miR-302e	CLIP-seq
MIRT1118077	hsa-miR-3121-3p	CLIP-seq
MIRT1118078	hsa-miR-3125	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118080	hsa-miR-3671	CLIP-seq
MIRT1118081	hsa-miR-372	CLIP-seq
MIRT1118082	hsa-miR-373	CLIP-seq
MIRT1118083	hsa-miR-3916	CLIP-seq
MIRT1118084	hsa-miR-3928	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118087	hsa-miR-4521	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118091	hsa-miR-4797-5p	CLIP-seq
MIRT1118092	hsa-miR-499-3p	CLIP-seq
MIRT1118093	hsa-miR-499a-3p	CLIP-seq
MIRT1118094	hsa-miR-519d	CLIP-seq
MIRT1118095	hsa-miR-520a-3p	CLIP-seq
MIRT1118096	hsa-miR-520b	CLIP-seq
MIRT1118097	hsa-miR-520c-3p	CLIP-seq
MIRT1118098	hsa-miR-520d-3p	CLIP-seq
MIRT1118099	hsa-miR-520e	CLIP-seq
MIRT1118100	hsa-miR-520g	CLIP-seq
MIRT1118101	hsa-miR-520h	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118103	hsa-miR-627	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT1118105	hsa-miR-711	CLIP-seq
MIRT1118106	hsa-miR-924	CLIP-seq
MIRT1118107	hsa-miR-93	CLIP-seq
MIRT2033383	hsa-miR-3140-3p	CLIP-seq
MIRT1118091	hsa-miR-4797-5p	CLIP-seq
MIRT2263798	hsa-miR-1207-3p	CLIP-seq
MIRT2263799	hsa-miR-3157-5p	CLIP-seq
MIRT2263800	hsa-miR-4290	CLIP-seq
MIRT2263801	hsa-miR-4687-5p	CLIP-seq
MIRT2263802	hsa-miR-4690-3p	CLIP-seq
MIRT2263803	hsa-miR-532-3p	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT2563046	hsa-miR-1251	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT2563047	hsa-miR-186	CLIP-seq
MIRT2563048	hsa-miR-2110	CLIP-seq
MIRT2563049	hsa-miR-2355-3p	CLIP-seq
MIRT2563050	hsa-miR-2861	CLIP-seq
MIRT2563051	hsa-miR-3153	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT2563052	hsa-miR-3655	CLIP-seq
MIRT2563053	hsa-miR-3675-3p	CLIP-seq
MIRT2563054	hsa-miR-4252	CLIP-seq
MIRT2563055	hsa-miR-4269	CLIP-seq
MIRT2563056	hsa-miR-4271	CLIP-seq
MIRT2563057	hsa-miR-4274	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT2563058	hsa-miR-4512	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT2563059	hsa-miR-4519	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT2563060	hsa-miR-4667-5p	CLIP-seq
MIRT2563061	hsa-miR-4690-5p	CLIP-seq
MIRT2563062	hsa-miR-4700-5p	CLIP-seq
MIRT2563063	hsa-miR-4708-3p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT2563064	hsa-miR-4725-3p	CLIP-seq
MIRT2563065	hsa-miR-4735-5p	CLIP-seq
MIRT2563066	hsa-miR-4774-5p	CLIP-seq
MIRT2563067	hsa-miR-5096	CLIP-seq
MIRT2563068	hsa-miR-576-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq
MIRT2563069	hsa-miR-676	CLIP-seq
MIRT2563046	hsa-miR-1251	CLIP-seq
MIRT1118062	hsa-miR-1253	CLIP-seq
MIRT1118063	hsa-miR-1275	CLIP-seq
MIRT1118064	hsa-miR-1343	CLIP-seq
MIRT2563047	hsa-miR-186	CLIP-seq
MIRT2684161	hsa-miR-193a-5p	CLIP-seq
MIRT2563050	hsa-miR-2861	CLIP-seq
MIRT1118079	hsa-miR-3175	CLIP-seq
MIRT2684162	hsa-miR-346	CLIP-seq
MIRT2563053	hsa-miR-3675-3p	CLIP-seq
MIRT2563054	hsa-miR-4252	CLIP-seq
MIRT2684163	hsa-miR-4266	CLIP-seq
MIRT2563055	hsa-miR-4269	CLIP-seq
MIRT2563057	hsa-miR-4274	CLIP-seq
MIRT1118085	hsa-miR-4434	CLIP-seq
MIRT2563058	hsa-miR-4512	CLIP-seq
MIRT1118086	hsa-miR-4516	CLIP-seq
MIRT2563059	hsa-miR-4519	CLIP-seq
MIRT1118088	hsa-miR-4525	CLIP-seq
MIRT2684164	hsa-miR-4527	CLIP-seq
MIRT2684165	hsa-miR-4659a-5p	CLIP-seq
MIRT2684166	hsa-miR-4659b-5p	CLIP-seq
MIRT1118089	hsa-miR-4665-5p	CLIP-seq
MIRT2563061	hsa-miR-4690-5p	CLIP-seq
MIRT2684167	hsa-miR-4695-5p	CLIP-seq
MIRT2563063	hsa-miR-4708-3p	CLIP-seq
MIRT1118090	hsa-miR-4723-5p	CLIP-seq
MIRT2684168	hsa-miR-4727-5p	CLIP-seq
MIRT2563065	hsa-miR-4735-5p	CLIP-seq
MIRT2684169	hsa-miR-4769-3p	CLIP-seq
MIRT2563066	hsa-miR-4774-5p	CLIP-seq
MIRT2684170	hsa-miR-4779	CLIP-seq
MIRT2563068	hsa-miR-576-5p	CLIP-seq
MIRT1118102	hsa-miR-625	CLIP-seq
MIRT1118104	hsa-miR-637	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IDA	20381006
GO:0001942	Process	Hair follicle development	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21471202, 28514442
GO:0005886	Component	Plasma membrane	ISS
GO:0006897	Process	Endocytosis	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0009986	Component	Cell surface	IDA	20381006
GO:0009986	Component	Cell surface	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030279	Process	Negative regulation of ossification	IMP	21471202
GO:0030425	Component	Dendrite	ISS
GO:0030971	Function	Receptor tyrosine kinase binding	ISS
GO:0031594	Component	Neuromuscular junction	ISS
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0044853	Component	Plasma membrane raft	ISS
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0050771	Process	Negative regulation of axonogenesis	ISS
GO:0050808	Process	Synapse organization	ISS
GO:0051124	Process	Synaptic growth at neuromuscular junction	ISS
GO:0060173	Process	Limb development	IDA	20381006
GO:0071340	Process	Skeletal muscle acetylcholine-gated channel clustering	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	20093106
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	20381006, 21471202
GO:0097060	Component	Synaptic membrane	ISS
GO:0097104	Process	Postsynaptic membrane assembly	ISS
GO:0097105	Process	Presynaptic membrane assembly	ISS
GO:0097110	Function	Scaffold protein binding	ISS
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IMP	18289866
GO:1901631	Process	Positive regulation of presynaptic membrane organization	ISS
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA

MIM	HGNC	e!Ensembl
604270	6696	ENSG00000134569

Protein

UniProt ID

O75096

Protein name

Low-density lipoprotein receptor-related protein 4 (LRP-4) (Multiple epidermal growth factor-like domains 7)

Protein function

Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse betwee

PDB

8S9P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00057	Ldl_recept_a	25 → 66	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	69 → 105	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	108 → 143	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	146 → 182	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	189 → 225	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	229 → 265	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	268 → 304	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	310 → 349	Low-density lipoprotein receptor domain class A	Repeat
PF12662	cEGF	376 → 398	Complement Clr-like EGF-like	Domain
PF00058	Ldl_recept_b	480 → 520	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	523 → 563	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	566 → 607	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	610 → 650	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	785 → 825	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	828 → 866	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	871 → 912	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	915 → 954	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	956 → 996	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	1006 → 1043		Domain
PF00058	Ldl_recept_b	1093 → 1133	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1136 → 1176	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1179 → 1220	Low-density lipoprotein receptor repeat class B	Repeat
PF14670	FXa_inhibition	1313 → 1348		Domain
PF00058	Ldl_recept_b	1397 → 1437	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1440 → 1480	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1483 → 1524	Low-density lipoprotein receptor repeat class B	Repeat
PF00058	Ldl_recept_b	1527 → 1563	Low-density lipoprotein receptor repeat class B	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain. {ECO:0000269|PubMed:21471202}.

Sequence

MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDH
SDEDGCILPTCSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNG
YCIRSLWHCDGDNDCGDNSDEQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEE
NCPSAVPAPPCNLEEFQCAYGRCILDIYHCDGDDDCGDWSDESDCSSHQPCRSGEFMCDS
GLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSD
EENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNV
NNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWC
ETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRE
LVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANL
DGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWP
NGLTIDYAGRRMYWVDAKHHVIERANLDGSHRKAVISQGLPHPFAITVFEDSLYWTDWHT
KSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNY
TCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLADVRSAVALDW
DSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRI
EVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISS
NLTWPNGLAIDYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYW
TDWQTKSIQSADRLTGLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRS
PNPSGFSCTCPTGINLLSDGKTCSPGMNSFLIFARRIDIRMVSLDIPYFADVVVPINITM
KNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQTTDGLAVDAIGRKVYW
TDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGS
DRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTL
LDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGC
SHLCLPRPSGFSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVP
VPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVAR
NLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERAN
LDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIESADLNGKLRQVLVSHVSHPF
ALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVN
NGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLY
SSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVV
IAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDH
NYTKEKIKIVEGICLLSGDDAEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDT
ETEQLLQEEQSECSSVHTAATPERRGSLPDTGWKHERKLSSESQV

Sequence length

1905

Interactions

View interactions

Show/Hide Causal Diseases (15)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Myasthenic syndrome	Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 17	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922 View all (237 more)	24234652, 26052878
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Polysyndactyly	Polysyndactyly	rs1583729562, rs121917713	16207730
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	26198764
Sclerosteosis	Sclerosteosis, SCLEROSTEOSIS 2	rs387906320, rs104894644, rs104894645, rs387906884	21471202, 24234652
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly, Syndactyly Cenani Lenz type	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304	16207730, 20381006, 23636941, 12868467, 28559208

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Myasthenic Syndrome	congenital myasthenic syndrome 17, postsynaptic congenital myasthenic syndrome	GenCC
Neuroticism	Neuroticism	GWAS

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining
Arnold Chiari Malformation	Associate	28513615
Bone Diseases	Associate	37640745
Bone Diseases Metabolic	Associate	24584697
Carcinoma Hepatocellular	Associate	35293286
Cartilage Diseases	Associate	39940775
Coffin Lowry Syndrome	Associate	37640745
Congenital myasthenic syndrome ib	Associate	30994901
Dyskeratosis Congenita	Associate	29696773
Fluorosis Dental	Associate	27005479
Glycosuria Renal	Associate	37640745
Hepatitis C Chronic	Associate	27005479
Hip Fractures	Associate	22807154
Kidney Diseases	Associate	20381006
Limb Deformities Congenital	Associate	37640745
Lymphatic Metastasis	Stimulate	32675391
Lymphatic Metastasis	Associate	36465624
Motor Neuron Disease	Associate	35468848
Multiple Myeloma	Associate	27005479
Muscle Weakness	Associate	37640745
Myasthenia Gravis	Associate	24244707, 25894002
Myasthenic Syndromes Congenital	Associate	26052878, 37640745
Neoplasms	Associate	32675391
Neuromuscular Junction Diseases	Associate	37640745
Osteoarthritis	Associate	39940775
Osteopetrosis	Associate	27005479
Osteoporotic Fractures	Associate	22807154
Phenylketonurias	Associate	39337507
Primary Myelofibrosis	Associate	27005479
Sclerosteosis	Associate	26751728, 29524275, 35052419, 37640745
Split Hand Foot Malformation With Sensorineural Hearing Loss	Associate	37640745
Spondylocostal dysostosis autosomal recessive	Associate	22807154
Stomach Neoplasms	Associate	32675391
Syndactyly	Associate	29524275, 30041615
Syndactyly Cenani Lenz type	Associate	20381006, 26751728, 29524275, 30041615, 37640745
Thyroid Cancer Papillary	Associate	36465624
Venous Thromboembolism	Associate	37537391

LRP4 (LDL receptor related protein 4)