LRP5 (LDL receptor related protein 5)

Gene

• Entrez ID: 4041
• Gene name: LDL receptor related protein 5
• Gene symbol: LRP5
• Synonyms (NCBI Gene): 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	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IMP	17680723
GO:0002076	Process	Osteoblast development	IEA
GO:0005515	Function	Protein binding	IPI	11336703, 11433302, 15908424, 18762581, 20393562, 21471202, 28514442, 33961781
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:0006865	Process	Amino acid transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0008078	Process	Mesodermal cell migration	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:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015026	Function	Coreceptor activity	IEA
GO:0015026	Function	Coreceptor activity	IPI	11336703
GO:0015026	Function	Coreceptor activity	NAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0017147	Function	Wnt-protein binding	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:0033687	Process	Osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035426	Process	Extracellular matrix-cell signaling	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0042632	Process	Cholesterol homeostasis	IMP	18721193, 20146170
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042813	Function	Wnt receptor activity	IDA	24706814, 25920554
GO:0042813	Function	Wnt receptor activity	IEA
GO:0042813	Function	Wnt 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:0044281	Process	Small molecule metabolic process	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	17680723
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	17680723
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	9790987
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17955262
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12857724, 15035989
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046849	Process	Bone remodeling	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048539	Process	Bone marrow development	IMP	17680723
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	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	11336703, 16805831
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	18044981, 19673927
GO:0060348	Process	Bone development	IEA
GO:0060349	Process	Bone morphogenesis	IMP	19673927, 20146170, 20630166
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060612	Process	Adipose tissue development	IMP	17680723
GO:0060764	Process	Cell-cell signaling involved in mammary gland development	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IMP	15024691, 15346351
GO:0065008	Process	Regulation of biological quality	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0110135	Process	Norrin signaling pathway	IDA	15035989, 17955262
GO:0110135	Process	Norrin signaling pathway	IEA
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	IEA
GO:1990851	Component	Wnt-Frizzled-LRP5/6 complex	TAS	20093360, 22988876
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:1990963	Process	Establishment of blood-retinal barrier	IEA

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

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with the highest level of expression in the liver and in aorta. {ECO:0000269|PubMed:9790987}.
• 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

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
Autosomal dominant osteopetrosis 1	Pathogenic; Likely pathogenic	rs121908669, rs121908670, rs121908671, rs121908673	RCV000006659 RCV000006661 RCV000786921 RCV000006665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic liver disease	Likely pathogenic	rs2153153124	RCV001844900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bone mineral density quantitative trait locus 1	Likely pathogenic; Pathogenic	rs1085307078	RCV000490446	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disorder of bone	Pathogenic	rs121908668	RCV006268073	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 1	Likely pathogenic; Pathogenic	rs121908664, rs2496600373, rs765402802, rs2098643283, rs2098660903	RCV002247255 RCV005356479 RCV005252998 RCV001270175 RCV001270176	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy 4	Likely pathogenic; Pathogenic	rs1398692057, rs2153178673, rs2098677149, rs2496385032, rs80358322, rs886043590, rs2496470941, rs2496385228, rs2496600373, rs778930556, rs1244761864, rs2098630548, rs761131376, rs201745746	RCV004762156 RCV001542591 RCV002251160 RCV002283826 RCV004795379 RCV000761295 RCV003314262 RCV003314307 RCV005356479 RCV004585214 RCV004788038 RCV001170037 RCV003222284 RCV003222285	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy 4, autosomal dominant	Likely pathogenic; Pathogenic	rs80358322, rs80358321, rs80358305	RCV000006667 RCV000006668 RCV000006672	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 4, autosomal recessive	Likely pathogenic; Pathogenic	rs80358312, rs121908674, rs28939709, rs80358307	RCV000006669 RCV000006670 RCV000006671 RCV000006675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 4, digenic	Pathogenic	rs80358308	RCV000006673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial exudative vitreoretinopathy	Likely pathogenic; Pathogenic	rs80358322	RCV000505032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
High bone mass	Pathogenic; Likely pathogenic	rs121908668, rs1555075567	RCV000006658 RCV000505670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRP5-related disorder	Likely pathogenic; Pathogenic	rs1398692057, rs121908661, rs121908664, rs121908670, rs80358308, rs2496815141, rs765695793	RCV004743544 RCV003904811 RCV004742219 RCV004742220 RCV004742221 RCV003402784 RCV003906177	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LRP5-related primary osteoporosis	Likely pathogenic	rs2496599704	RCV003994643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs2098643283	RCV005908936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs1311935185, rs2153110162, rs2153129403, rs771043544, rs2098673217, rs2153140527	RCV002276951 RCV002277797 RCV002277798 RCV002277799 RCV002277804 RCV002277813	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis	Likely pathogenic; Pathogenic	rs1200833757	RCV003333160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis with pseudoglioma	Likely pathogenic; Pathogenic	rs2153153067, rs545508982, rs1270099780, rs121908660, rs121908661, rs1554967141, rs121908662, rs121908663, rs80358319, rs121908664, rs121908666, rs121908667, rs1554971145, rs80358322, rs80358305, rs886040977, rs886043590, rs1229615060, rs2496814765, rs2496600373, rs1057519574, rs1057519575, rs397514663, rs397514664, rs397514665, rs149645175, rs1554967176, rs765695793, rs1396340484	RCV001728176 RCV002052059 RCV002244111 RCV000006646 RCV000006647 RCV000006648 RCV000006649 RCV000006650 RCV000006651 RCV000006652 RCV000006655 RCV000006656 RCV000006657 RCV004821259 RCV000033256 RCV000258126 RCV004786658 RCV003328514 RCV003337841 RCV005356479 RCV000417043 RCV000417056 RCV000033257 RCV000033258 RCV000033259 RCV000033260 RCV000033261 RCV001260286 RCV003313991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs80358322	RCV005887328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic liver disease 1	Likely pathogenic; Pathogenic	rs141178995, rs724159826	RCV000149786 RCV000149787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic liver disease 4 with or without kidney cysts	Likely pathogenic; Pathogenic	rs141178995, rs724159826, rs2496600373	RCV000584769 RCV000584817 RCV005356479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postmenopausal osteoporosis	Likely pathogenic	rs768615287	RCV000761563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs80358322, rs80358312, rs28939709, rs1244761864, rs765402802, rs1565083843, rs2098614719, rs2098676296, rs2098677212, rs761131376	RCV004814845 RCV004814846 RCV004814847 RCV001073521 RCV001073522 RCV004817914 RCV001073443 RCV001075325 RCV001073627 RCV004814039	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Likely pathogenic; Pathogenic	rs121908670	RCV005624678	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy	Likely pathogenic	rs1565083843	RCV000678474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth disease	Likely pathogenic; Pathogenic	rs121908670, rs121908671, rs121908672	RCV000006660 RCV000006663 RCV000006664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OSTEOSCLEROSIS, WORTH TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant polycystic kidney disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMURATI-ENGELMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ 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
EXUDATIVE VITREORETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEOPOROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LRP5-related exudative vitreoretinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS, DEVELOPMENTAL DELAY, CRANIOSYNOSTOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic kidney disease, adult type	not provided; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY BACKGROUND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe early-childhood-onset retinal dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN BUCHEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN BUCHEM DISEASE TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN D DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINOPATHY, PROLIFERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WORTH SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	21471826		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	23866946	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21282580		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	37628576	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	35537890	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	34789072	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	33251782	Stimulate	★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	21885484, 31656088		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	35537890	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	19233690, 23490293	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	23490293	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	19233690, 23490293, 29289619		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	29244962		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	BEFREE	29123202, 29728620		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23490293		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23490293		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23490293	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29982554		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	21147715, 21432225	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30474181		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	15634227		★☆☆☆☆ Found in Text Mining only
Autosomal dominant osteopetrosis type 1	Osteopetrosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	6249934	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	21257323		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	24014470, 34965700	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	LHGDN	12579474, 17052975		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	15077203, 15824861, 15940380, 17052975, 17295608, 21600326, 25384351, 26348019, 28283687, 32405501, 34639175, 36421042, 38302983, 39525853	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	15767861, 17052975, 20709709, 21600326, 26048454, 29594386		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	20336693	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	12015390, 16929062, 17241106, 18349089, 19629617, 23499310, 24584697, 24715757, 24885293, 25384351, 25651180, 27582019, 29963786, 33118644, 33716164, 33939331, 34639175, 35276006, 36421042, 38302983	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	15767861		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	25902418, 29107218		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31575382	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31881970	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25651180	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30366187, 31200945		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19810105	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	37222325	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	15940380	Associate	★☆☆☆☆ Found in Text Mining only
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)	Cerebroretinal Microangiopathy With Calcifications And Cysts	BEFREE	21523908		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25392953		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31836665	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17255260		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33065966, 39991761	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34997691	Stimulate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	18602879, 25384351		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital methemoglobinemia	Pubtator	15929117	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Methemoglobinemia	Congenital methemoglobinemia	Pubtator	15929117	Associate	★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital retinal fold	Congenital Retinal Fold	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28283687	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35733105	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	15940380	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	15940380		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	15929117, 33251782, 34789072	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15979013, 17202888		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29707824		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28550529		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	15940380	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16723389		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	36947076	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16723389, 18493104		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16723389	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30304114	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26083111, 26248735, 28283687, 32405501, 36421042, 36947076	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12700977, 21876774, 9704021		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18493104, 26083111, 26248735, 28067456		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	21876774	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21876774		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	29131652		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	18493104, 25329009		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	3174281		★☆☆☆☆ Found in Text Mining only
Endosteal hyperostosis, Worth type	Endosteal Hyperostosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25499959	Associate	★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy	Exudative Vitreoretinopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	BEFREE	15346351, 15370539		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	UNIPROT_DG	27228167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EXUDATIVE VITREORETINOPATHY 4 (disorder)	Exudative vitreoretinopathy	GENOMICS_ENGLAND_DG	11719191, 29131652		★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 4 (disorder)	Exudative vitreoretinopathy	UNIPROT_DG	15024691, 15346351, 15981244, 16252235, 16929062, 19324841, 20340138, 24715757		★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 4 (disorder)	Exudative vitreoretinopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EXUDATIVE VITREORETINOPATHY 4 (disorder)	Exudative vitreoretinopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	37089697	Associate	★☆☆☆☆ Found in Text Mining only
Facial Paralysis	Facial nerve disorder	Pubtator	15940380	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	10729291, 12172548, 14737064, 15024691, 15223780, 15346351, 15370539, 15665352, 15981244, 16929062, 17955262, 20159111, 20340138, 21151595, 23077402, 24715757, 25323851, 26244290, 27007396, 27228167, 27316669, 27486893, 27524797, 28356706, 29207047, 30768230, 31169861		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	CLINVAR_DG	15024691, 25711638		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial exudative vitreoretinopathy	Exudative Vitreoretinopathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	CTD_human_DG	29207047		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	40055364	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21528003	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	39991761	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39991761	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15940380, 27524797		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	21282580		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	24014470	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	15940380	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	933112	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	16631011	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	34789072	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	27005479	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal pendular nystagmus	Horizontal pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16713434, 17972053, 19023643, 28938444		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	27680891		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28938444		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28938444		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30038821		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	28283687	Associate	★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperostosis corticalis generalisata	Hyperostosis Of Skull	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	22576020		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	27071708		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	16754270	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16754270		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	16754270		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	22513174	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	31564437		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27888375, 30564080		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28283687, 30866603	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31272268		★☆☆☆☆ Found in Text Mining only
Isolated polycystic liver disease	Polycystic liver disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	30416334	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	BEFREE	30652979		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	24706814	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31838050		★☆☆☆☆ Found in Text Mining only
LRP5-related primary osteoporosis	Osteoporosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	BEFREE	15940380		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25902418, 29107218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16266997, 24403228, 31031810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29313300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30305727		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17255260, 20713706, 31031810, 31744930		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	7836459		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29431745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28550529		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30474181		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35733105	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25651180	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23054017		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	Pubtator	34789072	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	28111184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder	Cognitive disorder	BEFREE	29707824		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11719191, 12054167, 12579474, 15346351, 15824851, 20652025, 22487062, 28111184, 28677207		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20846389, 27005479	Associate	★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	15355556, 15940380, 16355283, 17002564, 17241106, 17295608, 18021006, 18684085	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	38243264	Associate	★☆☆☆☆ Found in Text Mining only
Myopia Degenerative	Myopia	Pubtator	30747064	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18044981, 24403228, 29431745, 30321818		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	33707600	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	28677207		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	10729291		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	16929062	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16723389, 20953208, 23891823		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16723389, 33028190, 35733105	Associate	★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	31564437		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	15940380	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	15824861	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	15979013	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	15979013	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	15824861, 23499310	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	31564437, 31648079		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	33596325	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type IV (disorder)	Osteogenesis Imperfecta	BEFREE	24677211		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	18455228, 25323851, 26554834, 29963786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	LHGDN	12054167		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	12579474, 23744590		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	27005479	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis autosomal dominant type 1	Osteopetrosis and infantile neuroaxonal dystrophy	Pubtator	16251418, 21600326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	Osteopetrosis	GENOMICS_ENGLAND_DG	11719191, 29131652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	Osteopetrosis	ORPHANET_DG	12579474, 21600326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	Osteopetrosis	UNIPROT_DG	12579474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	Osteopetrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	Osteopetrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	12015390, 15355556, 15824851, 17002564, 17052975, 17241106, 18349089, 18455228, 18684085, 19571442, 19629617, 20926594, 21147715, 21542013, 23028809, 24014470, 24038240, 24885293, 25132170, 26719974, 26930606, 27582019, 28222408, 28283687, 28369098, 29963786, 31077665, 31774873, 33101205, 33118644, 33939331, 34639175, 34743040, 35276006, 37277619, 38098042, 38302983, 39336743, 39525853	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	BEFREE	14727154, 15355556, 15760771, 15767861, 15777745, 15824851, 15850991, 16131431, 16958596, 17052975, 17241106, 18455228, 18684085, 19148563, 19506792, 19571442, 20096619, 20101398, 20926594, 23028809, 24014470, 24423337, 24897288, 25323851, 25384351, 25392953, 25580429, 28487939, 28866852, 29486968, 29594386, 29963786, 31031810, 31525280, 31774873		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	LHGDN	14727154, 15824851, 16168727, 16234968, 16679074, 17052975, 17306638, 18349089, 18455228		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis	Osteoporosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	BEFREE	11719191, 12054167, 12204281, 12579474, 15767861, 15824851, 15850991, 16679074, 17395698, 18602879, 18825883, 19041744, 20096619, 20333369, 21407258, 22456437, 23563356, 25384351, 25945592, 27007396, 28111184, 28432596, 28866852, 28891484		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	GENOMICS_ENGLAND_DG	11719191, 29131652		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	UNIPROT_DG	11719191, 16252235, 16679074, 17437160, 18602879		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	ORPHANET_DG	16252235, 16679074, 21407258		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	CTD_human_DG	18825883		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis with pseudoglioma	Osteoporosis-Pseudoglioma Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Senile	Osteoporosis	BEFREE	8659519		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis-pseudoglioma syndrome	Osteoporosis-Pseudoglioma Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	15087387, 25890345, 31031810		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17318900	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	12579474, 29709743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	Pubtator	15940380, 23318847	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis	Osteosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosclerosis-developmental delay-craniosynostosis syndrome	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	15824851, 16251418, 17295608, 23744590, 28938444, 29454962		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	22576020, 27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	18044981		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	15824851	Associate	★☆☆☆☆ Found in Text Mining only
Phthisis bulbi	Phthisis bulbi	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	25920554, 30135240	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30652979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	ORPHANET_DG	24706814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	Pubtator	24706814, 25920554, 27259053, 27552964, 29243290, 30135240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS	Polycystic liver disease with kidney cysts	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	Polycystic liver disease	UNIPROT_DG	24706814, 28375157		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	Polycystic liver disease	GENOMICS_ENGLAND_DG	25920554		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS	Polycystic liver disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17953969		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	17953969	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	BEFREE	18721193		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29707824		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	CTD_human_DG	18263894		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16266997, 24403228, 31031810		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28418602		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23490293	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	25392953		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	28867931	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	21528003	Associate	★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	23441120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy	ORPHANET_DG	23441120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	23441120	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of prematurity	Retinopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19023643, 28151034, 30019084		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	18664539, 20583295, 29875318		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	18044981		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	30019084		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	17202888		★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	18349089, 20926594, 28222408, 33118644	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31031810		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30305727		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36549764	Associate	★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	16631011	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	31638643		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	28145787		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29854300, 31031810		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17255260		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	ORPHANET_DG	12579474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease	Van Buchem Disease	BEFREE	15824861, 18538647, 29407041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease type 2	Van Buchem Disease	UNIPROT_DG	12579474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease type 2	Van Buchem Disease	GENOMICS_ENGLAND_DG	29131652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease type 2	Van Buchem Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease type 2	Van Buchem Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Worth disease	Worth Disease	GENOMICS_ENGLAND_DG	11719191		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth disease	Worth Disease	UNIPROT_DG	12579474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth disease	Worth Disease	ORPHANET_DG	12579474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth disease	Worth Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth disease	Worth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Worth syndrome	Worth syndrome	Pubtator	15940380	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations