LRP5 (LDL receptor related protein 5)

Gene

• Entrez ID: 4041
• Gene name: LDL receptor related protein 5
• Gene symbol: LRP5
• Synonyms: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1127291	C>G,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs2306862	C>T	Benign, affects	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs28939709	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs61889560	G>A,T	Likely-benign, uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs78219242	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358305	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358307	GGGGAAGAGG>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs80358308	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80358312	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant
rs80358313	G>A,C,T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs80358317	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs80358319	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs80358321	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs80358322	T>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs113315676	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs121908660	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, stop gained
rs121908661	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs121908662	->T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121908663	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121908664	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs121908665	C>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908666	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, non coding transcript variant
rs121908667	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs121908668	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908669	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908670	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908671	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908672	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908673	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs121908674	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs140977837	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs141178995	C>G,T	Not-provided, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141889567	T>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs145226802	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs145362529	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs147637431	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs148550774	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs148603249	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs149645175	C>G,T	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs150859573	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs200389686	T>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs202067798	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant
rs373910016	G>A	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514663	C>T	Pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514664	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514665	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs544861971	G>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs724159826	G>A,C	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs724159827	G>A,T	Pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 3 prime UTR variant
rs749683290	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant, genic upstream transcript variant
rs761919591	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs765402802	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs766589610	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs766988509	G>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs768615287	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs770383372	G>C,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs776920568	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886040977	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886043590	->T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057519126	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057519127	C>G,T	Likely-benign, likely-pathogenic	Upstream transcript variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057519574	G>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1057519575	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1085307078	A>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1244761864	TATG>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1308485193	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1326459816	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1554967141	G>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554967176	G>A	Pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1554971069	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554971145	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554977547	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1555072861	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1555075567	A>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs1555077255	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1565083843	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs1565092365	G>A	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1565347300	TG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018508	hsa-miR-335-5p	Microarray	18185580
MIRT731783	hsa-miR-23a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26774446
MIRT731783	hsa-miR-23a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26774446
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732084	hsa-miR-375	Luciferase reporter assay	28158288

Transcription factors

Transcription factor	Regulation	Reference
KLF15	Activation	20141633
RUNX2	Unknown	21542013
SP1	Activation	20141633

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001702	Process	Gastrulation with mouth forming second	IBA	21873635
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IMP	17680723
GO:0002076	Process	Osteoblast development	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11336703, 11433302, 15908424, 18762581, 20393562, 21471202, 28514442
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IDA	17680723
GO:0005886	Component	Plasma membrane	TAS
GO:0006007	Process	Glucose catabolic process	IMP	19673927
GO:0006897	Process	Endocytosis	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008217	Process	Regulation of blood pressure	IMP	18721193
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9790987
GO:0009314	Process	Response to radiation	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA	21873635
GO:0015026	Function	Coreceptor activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0017147	Function	Wnt-protein binding	IPI	11336703
GO:0017147	Function	Wnt-protein binding	ISS
GO:0017147	Function	Wnt-protein binding	TAS	22988876
GO:0019534	Function	Toxin transmembrane transporter activity	IMP	18350154
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035426	Process	Extracellular matrix-cell signaling	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IMP	18721193, 20146170
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042813	Function	Wnt-activated receptor activity	IDA	24706814, 25920554
GO:0042813	Function	Wnt-activated receptor activity	ISS
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043235	Component	Receptor complex	IDA	18762581
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	17680723
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	17680723
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	9790987
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15035989, 17955262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12857724
GO:0046849	Process	Bone remodeling	IBA	21873635
GO:0048539	Process	Bone marrow development	IBA	21873635
GO:0048539	Process	Bone marrow development	IMP	17680723
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IEA
GO:0060033	Process	Anatomical structure regression	IEA
GO:0060042	Process	Retina morphogenesis in camera-type eye	IMP	15346351
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	11029007, 12121999, 12857724, 15908424, 24706814, 25920554
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	11336703, 16805831
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	18044981, 19673927
GO:0060349	Process	Bone morphogenesis	IBA	21873635
GO:0060349	Process	Bone morphogenesis	IMP	19673927, 20146170, 20630166
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IBA	21873635
GO:0060612	Process	Adipose tissue development	IBA	21873635
GO:0060612	Process	Adipose tissue development	IMP	17680723
GO:0060764	Process	Cell-cell signaling involved in mammary gland development	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IBA	21873635
GO:0061304	Process	Retinal blood vessel morphogenesis	IBA	21873635
GO:0061304	Process	Retinal blood vessel morphogenesis	IMP	15024691, 15346351
GO:0071901	Process	Negative regulation of protein serine/threonine kinase activity	IMP	19107203
GO:0071936	Function	Coreceptor activity involved in Wnt signaling pathway	IPI	11336703
GO:0110135	Process	Norrin signaling pathway	IDA	15035989, 17955262
GO:1901998	Process	Toxin transport	IEA
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1904928	Function	Coreceptor activity involved in canonical Wnt signaling pathway	NAS	24431302
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	TAS	20093360, 22988876
GO:1990909	Component	Wnt signalosome	NAS	24115276

Other IDs

• MIM: 603506
• HGNC: 6697
• e!Ensembl: ENSG00000162337

Protein

• UniProt ID: O75197
• Protein name: Low-density lipoprotein receptor-related protein 5 (LRP-5) (Low-density lipoprotein receptor-related protein 7) (LRP-7)
• Protein function: Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activa
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00058	Ldl_recept_b	120 → 160	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	163 → 204	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	207 → 245	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	299 → 336		Domain
  PF00058	Ldl_recept_b	385 → 425	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	428 → 468	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	471 → 512	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	515 → 552	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	605 → 640		Domain
  PF00058	Ldl_recept_b	687 → 727	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	730 → 770	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	773 → 813	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	816 → 852	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	856 → 896	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	906 → 941		Domain
  PF00058	Ldl_recept_b	1124 → 1162	Low-density lipoprotein receptor repeat class B	Repeat
  PF00057	Ldl_recept_a	1257 → 1295	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1296 → 1332	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	1334 → 1370	Low-density lipoprotein receptor domain class A	Repeat

• Sequence:

  MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVS
  GLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGK
  KLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAG
  MDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHP
  FALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCE
  EDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTP
  DFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDG
  IAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGE
  NPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTL
  LEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVV
  GTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISL
  ETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYP
  EGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEW
  GGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVV
  IADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQ
  DGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMI
  PDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQ
  NPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGY
  LYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCD
  LSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTG
  IHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCS
  PDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGE
  ADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDS
  PAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAP
  GGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNP
  PPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKAS
  KYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS

• Sequence length: 1615

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathways in cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
RNF mutants show enhanced WNT signaling and proliferation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Exudative vitreoretinopathy	Exudative vitreoretinopathy, Exudative vitreoretinopathy 1, EXUDATIVE VITREORETINOPATHY 4 (disorder), Familial Exudative Vitreoretinopathy	rs267607154, rs1554403626, rs267607153, rs794726655, rs80358301, rs80358303, rs80358294, rs80358292, rs121908664, rs80358322, rs80358321, rs80358312, rs121908674, rs28939709, rs80358305, rs80358307, rs104894868, rs28933684, rs104894878, rs104894876, rs137852220, rs587777283, rs587777284, rs587777285, rs373273223, rs80358295, rs80358284, rs1057519379, rs1057519380, rs878853243, rs886039332, rs886043590, rs1057518477, rs1555086007, rs1553631770, rs1244761864, rs765402802, rs1460859456, rs1335735639, rs1425566595, rs759432455	27228167, 11719191, 20340138, 15024691, 16252235, 29131652, 19324841, 24715757, 16929062, 15981244, 15346351, 29207047, 25711638, 15024691
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Polycystic liver disease	Isolated polycystic liver disease, Polycystic liver disease, POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	rs137852944, rs137852949, rs398124483, rs200391019, rs786204696, rs773136605, rs781368899, rs376161880, rs774759689, rs762811727, rs1210158408, rs1565088616, rs1565092566, rs1565092899, rs1565093675, rs1465649718, rs1565099895, rs1565116806, rs769559267, rs200432861, rs367707903, rs1334145215, rs1582441455, rs1582064844, rs1582064292, rs1473182306	24706814, 24706814, 28375157, 25920554
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	12579474, 11719191, 20652025, 15346351, 28677207, 12054167, 28111184, 15824851, 22487062
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, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Osteopetrosis	Autosomal dominant osteopetrosis type 1, Osteopetrosis, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323	29131652, 21600326, 12579474, 11719191
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Postmenopausal, Osteoporosis, Senile, Post-Traumatic Osteoporosis, LRP5-related primary osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Osteoporosis-pseudoglioma syndrome	Osteoporosis with pseudoglioma, Osteoporosis-pseudoglioma syndrome	rs121908660, rs121908661, rs1554967141, rs121908662, rs121908663, rs80358319, rs121908664, rs121908666, rs121908667, rs1554971145, rs80358322, rs80358305, rs397514663, rs397514664, rs397514665, rs149645175, rs1554967176, rs886040977, rs886043590, rs1057519574, rs1057519575, rs765695793	18602879, 16679074, 16252235, 11719191, 17437160, 29131652, 18825883, 21407258
Proliferative vitreoretinopathy	Proliferative vitreoretinopathy	rs397514601, rs397514602, rs886041303, rs1950456995	18263894
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Worth disease	Worth disease	rs121908670, rs121908671, rs121908672	11719191, 12579474

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Angle closure glaucoma	Angle Closure Glaucoma
Brachycephaly	Brachycephaly
Congenital blindness	Congenital blindness
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Congenital nystagmus	Congenital nystagmus
Congenital retinal fold	Congenital retinal fold
Disorder of eye	Disorder of eye		29131652
Dwarfism	Dwarfism
Endosteal hyperostosis	Endosteal hyperostosis, Worth type
Exudative retinopathy	Exudative retinopathy
Facial paralysis	Facial paralysis
Frontal bossing	Frontal bossing
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Horizontal pendular nystagmus	Horizontal pendular nystagmus
Hyperostosis	Hyperostosis
Hyperostosis of skull	Hyperostosis corticalis generalisata
Liver cyst	Liver cyst
Malocclusion	Class III malocclusion
Multiple renal cysts	Multiple renal cysts
Osteopenia	Osteopenia
Osteosclerosis	Osteosclerosis
Osteosclerosis-developmental delay-craniosynostosis syndrome	Osteosclerosis-developmental delay-craniosynostosis syndrome
Phthisis bulbi	Phthisis bulbi
Polycystic liver disease with kidney cysts	POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS
Retinopathy	Retinopathy of Prematurity		23441120
Subcapsular cataract	Subcapsular cataract
Van buchem disease	Van Buchem disease, Van Buchem disease type 2		12579474, 29131652, 12579474
Vitreoretinal degeneration	Vitreoretinal degeneration