TNFRSF11A (TNF receptor superfamily member 11a)

Gene

• Entrez ID: 8792
• Gene name: TNF receptor superfamily member 11a
• Gene symbol: TNFRSF11A
• Synonyms (NCBI Gene): CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCE-R, TRANCER
• Chromosome: 18
• Chromosome location: 18q21.33
• Summary: The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34966542	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs121908655	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908656	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908657	C>T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121908658	G>T	Pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs121908659	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs547088539	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs772863037	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs776173779	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs796051862	->GCTGCTGCTGCTCTGCGCGCTGCTCGC	Pathogenic	Genic upstream transcript variant, inframe insertion, 5 prime UTR variant, coding sequence variant
rs879253796	->CTGCTCTGCGCGCTGCTC	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion, 5 prime UTR variant
rs886037749	->GCTGCTCTGCGCGCTGCT	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion, 5 prime UTR variant
rs1555767678	->CTCTGCGCGCTGCTC	Pathogenic	Inframe insertion, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs1600406856	GCA>CC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029973	hsa-miR-26b-5p	Microarray	19088304
MIRT054780	hsa-miR-503-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	23821519
MIRT553480	hsa-miR-3150a-5p	PAR-CLIP	21572407
MIRT553479	hsa-miR-3150b-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT553478	hsa-miR-3160-5p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT553480	hsa-miR-3150a-5p	PAR-CLIP	21572407
MIRT553479	hsa-miR-3150b-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT553478	hsa-miR-3160-5p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT543104	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT543103	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT543102	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT543101	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT543100	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT543099	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT543098	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT543097	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT543096	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT543094	hsa-miR-4775	PAR-CLIP	21572407
MIRT543095	hsa-miR-548aw	PAR-CLIP	21572407
MIRT543093	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT1442842	hsa-miR-1251	CLIP-seq
MIRT1442843	hsa-miR-1273e	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT1442846	hsa-miR-3180-5p	CLIP-seq
MIRT1442847	hsa-miR-3614-5p	CLIP-seq
MIRT1442848	hsa-miR-3672	CLIP-seq
MIRT1442849	hsa-miR-3675-5p	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT1442853	hsa-miR-4293	CLIP-seq
MIRT1442854	hsa-miR-4505	CLIP-seq
MIRT1442855	hsa-miR-4640-5p	CLIP-seq
MIRT1442856	hsa-miR-4668-5p	CLIP-seq
MIRT1442857	hsa-miR-4671-5p	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442859	hsa-miR-4726-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442861	hsa-miR-4786-5p	CLIP-seq
MIRT1442862	hsa-miR-4793-3p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442865	hsa-miR-520a-5p	CLIP-seq
MIRT1442866	hsa-miR-525-5p	CLIP-seq
MIRT1442867	hsa-miR-541	CLIP-seq
MIRT1442868	hsa-miR-555	CLIP-seq
MIRT1442869	hsa-miR-570	CLIP-seq
MIRT1442870	hsa-miR-596	CLIP-seq
MIRT1442871	hsa-miR-625	CLIP-seq
MIRT1442872	hsa-miR-654-5p	CLIP-seq
MIRT1442873	hsa-miR-661	CLIP-seq
MIRT1442874	hsa-miR-769-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT2132528	hsa-miR-3150b-3p	CLIP-seq
MIRT2132529	hsa-miR-3175	CLIP-seq
MIRT2132530	hsa-miR-3198	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT2132531	hsa-miR-4309	CLIP-seq
MIRT2132532	hsa-miR-432	CLIP-seq
MIRT2132533	hsa-miR-4653-3p	CLIP-seq
MIRT2132534	hsa-miR-4689	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT2132535	hsa-miR-4784	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT2132536	hsa-miR-891b	CLIP-seq
MIRT1442844	hsa-miR-136	CLIP-seq
MIRT1442846	hsa-miR-3180-5p	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT2353503	hsa-miR-3942-3p	CLIP-seq
MIRT2353504	hsa-miR-4517	CLIP-seq
MIRT1442857	hsa-miR-4671-5p	CLIP-seq
MIRT2353505	hsa-miR-4719	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442864	hsa-miR-515-5p	CLIP-seq
MIRT1442865	hsa-miR-520a-5p	CLIP-seq
MIRT1442866	hsa-miR-525-5p	CLIP-seq
MIRT1442874	hsa-miR-769-5p	CLIP-seq
MIRT2396114	hsa-miR-1184	CLIP-seq
MIRT1442876	hsa-miR-890	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2647683	hsa-miR-3135b	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq
MIRT1442845	hsa-miR-3122	CLIP-seq
MIRT2647683	hsa-miR-3135b	CLIP-seq
MIRT2462057	hsa-miR-3652	CLIP-seq
MIRT1442850	hsa-miR-3689a-3p	CLIP-seq
MIRT1442851	hsa-miR-3689c	CLIP-seq
MIRT1442852	hsa-miR-3913-5p	CLIP-seq
MIRT2462058	hsa-miR-4430	CLIP-seq
MIRT1442858	hsa-miR-4712-5p	CLIP-seq
MIRT1442860	hsa-miR-4728-5p	CLIP-seq
MIRT1442863	hsa-miR-485-5p	CLIP-seq
MIRT1442875	hsa-miR-770-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SPI1	Unknown	16083856

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IBA
GO:0001503	Process	Ossification	IEA
GO:0002250	Process	Adaptive immune response	IMP	18606301
GO:0002376	Process	Immune system process	IEA
GO:0002548	Process	Monocyte chemotaxis	NAS	15248232
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	9367155
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005031	Function	Tumor necrosis factor receptor activity	IBA
GO:0005031	Function	Tumor necrosis factor receptor activity	IEA
GO:0005031	Function	Tumor necrosis factor receptor activity	ISS	19940926
GO:0005515	Function	Protein binding	IPI	10075662, 15750601, 23333834, 29844572
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	9367155
GO:0007267	Process	Cell-cell signaling	TAS	9367155
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	9367155
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	9367155
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0019955	Function	Cytokine binding	IBA
GO:0019955	Function	Cytokine binding	IPI	9367155
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IMP	18606301
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032496	Process	Response to lipopolysaccharide	ISS	19940926
GO:0032868	Process	Response to insulin	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IBA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IDA	12296995
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IMP	18606301
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	ISS	19940926
GO:0034224	Process	Cellular response to zinc ion starvation	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0034612	Process	Response to tumor necrosis factor	ISS	19940926
GO:0038023	Function	Signaling receptor activity	TAS	9367155
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	12296995
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045780	Process	Positive regulation of bone resorption	IBA
GO:0045780	Process	Positive regulation of bone resorption	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IMP	12296995
GO:0046872	Function	Metal ion binding	IEA
GO:0048535	Process	Lymph node development	IBA
GO:0048535	Process	Lymph node development	IEA
GO:0060086	Process	Circadian temperature homeostasis	IEA
GO:0060086	Process	Circadian temperature homeostasis	ISS	19940926
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	18606301
GO:0070555	Process	Response to interleukin-1	IEA
GO:0070555	Process	Response to interleukin-1	ISS	19940926
GO:0071812	Process	Positive regulation of fever generation by positive regulation of prostaglandin secretion	IEA
GO:0071812	Process	Positive regulation of fever generation by positive regulation of prostaglandin secretion	ISS	19940926
GO:0072674	Process	Multinuclear osteoclast differentiation	IBA
GO:0072674	Process	Multinuclear osteoclast differentiation	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IDA	9367155

Other IDs

• MIM: 603499
• HGNC: 11908
• e!Ensembl: ENSG00000141655

Protein

• UniProt ID: Q9Y6Q6
• Protein name: Tumor necrosis factor receptor superfamily member 11A (Osteoclast differentiation factor receptor) (ODFR) (Receptor activator of NF-KB) (CD antigen CD265)
• Protein function: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity)
• PDB: 1LB5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18278	RANK_CRD_2	89 → 129	Receptor activator of the NF-KB cysteine-rich repeat domain 2	Domain
  PF00020	TNFR_c6	154 → 194	TNFR/NGFR cysteine-rich region	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland.
• Sequence:

  MAPRARRRRPLFALLLLCALLARLQVALQIAPPCTSEKHYEHLGRCCNKCEPGKYMSSKC
  TTTSDSVCLPCGPDEYLDSWNEEDKCLLHKVCDTGKALVAVVAGNSTTPRRCACTAGYHW
  SQDCECCRRNTECAPGLGAQHPLQLNKDTVCKPCLAGYFSDAFSSTDKCRPWTNCTFLGK
  RVEHHGTEKSDAVCSSSLPARKPPNEPHVYLPGLIILLLFASVALVAAIIFGVCYRKKGK
  ALTANLWHWINEACGRLSGDKESSGDSCVSTHTANFGQQGACEGVLLLTLEEKTFPEDMC
  YPDQGGVCQGTCVGGGPYAQGEDARMLSLVSKTEIEEDSFRQMPTEDEYMDRPSQPTDQL
  LFLTEPGSKSTPPFSEPLEVGENDSLSQCFTGTQSTVGSESCNCTEPLCRTDWTPMSSEN
  YLQKEVDSGHCPHWAASPSPNWADVCTGCRNPPGEDCEPLVGSPKRGPLPQCAYGMGLPP
  EEEASRTEARDQPEDGADGRLPSSARAGAGSGSSPGGQSPASGNVTGNSNSTFISSGQVM
  NFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLRE
  PEKASRPVQEQGGAKA

• Sequence length: 616

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Osteoclast differentiation
Prolactin signaling pathway
Rheumatoid arthritis

Reactome:

TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

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 recessive osteopetrosis 7	Likely pathogenic; Pathogenic	rs2145289462, rs2145309285, rs2145357936, rs121908655, rs121908656, rs121908658, rs121908659, rs2145223302, rs2145308907, rs2046440702, rs2511566983	RCV002247761 RCV002247762 RCV002247763 RCV000006681 RCV000006682 RCV000006684 RCV000006685 RCV003152983 RCV003225712 RCV003318520 RCV003313733	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial expansile osteolysis	Pathogenic; Likely pathogenic	rs886037749, rs879253796	RCV000190351 RCV000006679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paget disease of bone 2, early-onset	Pathogenic	rs886037749, rs1555767678, rs796051862	RCV000660386 RCV000190352 RCV000006680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Paget disease	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of bone	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSOSTEOSCLEROSIS	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPETROSIS HYPOGAMMAGLOBULINEMIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TNFRSF11A-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	31800874		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29494398		★☆☆☆☆ Found in Text Mining only
Adult-onset myasthenia gravis	Myasthenia Gravis	Orphanet			★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	LHGDN	18606301		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	18606301, 22271396	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	21643971	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	30421571		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	21659498	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angina, Unstable	Intermediate coronary syndrome	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28191455		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	28246602	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	24478054		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	28246602	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21470874, 28474155		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	28619088	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18839399, 27054952, 27572279, 32815001	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30292447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30929738, 31036433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	22787434		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22001292		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22001292	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25433635		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	24891336		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	29494398		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	22440007, 23543663, 24014458, 24486161, 25063546, 30756140		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25063546, 26617755, 26781475, 40222603	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	22370887	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	11555792		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	LHGDN	15615497		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	17982618	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	23336103, 25223386, 28587351		★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	16936272, 16960694	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16572175, 18388919, 20150760, 21326202, 21470874, 21541702, 22767217, 22824341, 24011086, 24486161, 26749530, 27191503, 27241552, 27322743, 27881737, 27893411, 28002811, 28173834, 28417335, 28464481, 28577080, 29025596, 29241686, 29282685, 29679262, 29844572, 29880055, 30478447, 30621730, 31014505, 31796128		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21559440, 22824341, 26781475, 27191503, 27893411, 28577080, 28758931, 29932437, 35697931	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16449517	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34570303	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29494398		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30015970		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	35163671	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26528707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31181781		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	12929927	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19008470, 22001292, 29687784, 30270544		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	19008470		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22001292	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	32180680	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29146991, 31052546		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29146991, 31052546		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	20506523, 25270538		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16270354, 29074954, 30711250		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	16270354		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CTD_human_DG	16270354		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	27992569		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	23311656		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35858838	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33985413, 36646765	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29202831		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34541005	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28244588		★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24891336		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16424351, 21880673		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11393778, 20112374, 22380539, 31546898		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28356555		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21659498	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28356555		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24529565, 28982588, 31823791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27171030		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysosteosclerosis	Dysosteosclerosis	BEFREE	29568001, 31163101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysosteosclerosis	Dysosteosclerosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysosteosclerosis	Dyslipidemias	Pubtator	31163101	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	12568416	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26734994, 29932437		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29932437	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25019155		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25019155		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25019155, 25973136	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25019155, 25973136	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial expansile osteolysis	Expansile Osteolysis	ORPHANET_DG	10615125		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial expansile osteolysis	Expansile Osteolysis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial expansile osteolysis	Expansile Osteolysis	BEFREE	11165949, 11351498, 11555792, 11742440, 11771666, 11973628, 12568416, 12929927, 16104845, 16831914, 17174136, 17447113, 18836673, 20564239, 29568001		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial expansile osteolysis	Expansile Osteolysis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial expansile osteolysis	Expansile Osteolysis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial expansile osteolysis	Expansile Osteolysis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	26451891		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	16024207, 25618600, 28396950, 30656607, 30675196, 30844887		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	31189751	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22787434, 23621850		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22787434, 23621850		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22787434, 23621850		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22787434	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12568416, 12929927, 31923705, 40222603	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	34685778	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	16449517, 27003233	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30711250		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	26494839		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	26494839		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	24891336		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11675352	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	11781248, 12929927, 22271396, 31923705, 40222603	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	22185226		★☆☆☆☆ Found in Text Mining only
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	BEFREE	12124406, 17174136, 25063546, 26762549		★☆☆☆☆ Found in Text Mining only
Hyperphosphatasemia with bone disease	Hyperphosphatasemia With Bone Disease	ORPHANET_DG	25063546		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25810067		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocalcemic seizures	Hypocalcemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	18606301, 22271396		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28576140, 31101043		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	37532711	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27874938		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15124262		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	18802807		★☆☆☆☆ Found in Text Mining only
Juvenile Paget disease	Paget disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25478860	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37407978	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28244588, 30132289		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23241893		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23241893, 27096305, 30711250		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25268581		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	27054952	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25973136	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28555075		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16572175, 18388919, 21326202, 21470874, 21541702, 22767217, 22824341, 24011086, 24486161, 26749530, 27191503, 27241552, 27322743, 27881737, 27893411, 28002811, 28173834, 28417335, 28464481, 28577080, 29025596, 29241686, 29282685, 29679262, 29844572, 29880055, 30478447, 30621730, 31014505, 31796128		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26734994, 29932437		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25019155		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30015970		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31181781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18008334, 21326202, 23696795, 23702841, 23708710, 24066029, 28373003		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28123301		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12237883, 16572175, 20166980, 21890459, 23028063, 25047443, 26749530, 27279652, 28634284, 29088745, 29202831, 29221197, 29277763, 29844572, 30232468, 30656607, 31160305		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29146991, 31052546		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21465190		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21326202, 28002811, 29932437, 30478447		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21407234	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	31454537		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28276564		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	24478054		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29022922		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28682481		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15377473, 20166980, 30093448, 30711250		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26762414, 36251145	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29920500		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	29699580		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30225627		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASCAT_DG	25643325, 26562150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis	Myasthenia gravis	Pubtator	25643325, 35074870	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	BEFREE	29736604		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis Ossificans	BEFREE	31189751		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29221197		★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	BEFREE	20150760		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12673693, 16995812, 18008334, 20881963, 23241893, 24014458, 25047443, 25849336, 26161925, 27279652, 27411503, 28235628, 28417335, 29146991, 29204705, 29221197, 29277763, 29323724, 29680857, 29932437, 30232468, 30348163, 30355966, 30431583, 30656607, 30984193, 31052546, 31181781		★☆☆☆☆ Found in Text Mining only
Neurogenic arthropathy	Neurogenic Arthropathy	BEFREE	28356555		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31304802		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Paget disease of bone	Paget disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23516466, 31137630		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16960694	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	31923705	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29844572		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	10862799, 11149487, 11165949, 11351498, 11555792, 11742440, 12673693, 12929927, 15389972, 16813535, 17903332, 18047742, 18359282, 18836673, 19578385, 20436471, 20564239, 20839008, 21623375, 21959292, 21987421, 23553658, 30756140		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	GENOMICS_ENGLAND_DG	11351498, 12673693		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	CTD_human_DG	20436471		★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	30921190	Associate	★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	21643971, 21659498, 33768738	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	25820558, 26617755	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	23303667, 23821519, 25462844, 26426211, 27552066, 27881737, 29311931, 29312334, 29348072, 29472860, 30633834, 31555218		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	11375772, 18606301, 20458572, 20564239, 24108692		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	LHGDN	18606301		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	Pubtator	18606301, 20564239, 22271396, 24108692, 32097281, 34049530	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis	Osteopetrosis	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteopetrosis Autosomal Recessive 1	Osteopetrosis	Pubtator	19507210	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis Autosomal Recessive 7	Osteopetrosis	Pubtator	31163101	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis mild autosomal recessive form	Osteopetrosis	Pubtator	18606301, 22271396, 28816234	Associate	★☆☆☆☆ Found in Text Mining only
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	ORPHANET_DG	18606301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	UNIPROT_DG	18606301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	BEFREE	29568001, 31163101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, Autosomal Recessive 7	Osteopetrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis, mild autosomal recessive form	Osteopetrosis	BEFREE	18606301, 22271396, 24859969		★☆☆☆☆ Found in Text Mining only
Osteopetrosis-hypogammaglobulinemia syndrome	Osteopetrosis-Hypogammaglobulinemia Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	15564564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	17002564, 17115234, 20534768, 21470874, 22380539, 25738879, 26426211, 26914636, 28454368, 28945380, 29029341, 29055350, 29334613, 29348072, 29571022, 29652606, 29713799, 30420611, 30695776, 30737962, 30818817, 31126201, 31454537, 31533771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	22370887, 34049530	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	23543663, 24486161, 25572286, 28983609, 30735778, 31454537, 31725199		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11351498, 12673693, 16328004, 28587351, 30355966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	GENOMICS_ENGLAND_DG	11351498, 12673693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	16328004, 17982618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	17982618, 38468522	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	31181781		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	25223386		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	11351498, 12673693, 15389972, 18047742, 18836673, 21987421		★☆☆☆☆ Found in Text Mining only
PAGET DISEASE OF BONE 2, EARLY-ONSET	Paget disease	BEFREE	16831914, 29568001		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAGET DISEASE OF BONE 2, EARLY-ONSET	Paget disease	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAGET DISEASE OF BONE 2, EARLY-ONSET	Paget disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30871729		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	20646949, 27992569, 28356494, 31800874		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28914577		★☆☆☆☆ Found in Text Mining only
Posterior fossa compression syndrome	Brain stem compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	31377883		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28914577		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18008334, 21326202, 23696795, 23702841, 23708710, 24066029, 28373003		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18008334		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28708287		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	18786965		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	25478860		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11352231, 15290725, 18786965, 20231205, 20580552, 23244167, 24886600, 25572286, 26914636, 27054952, 27894399, 28340056, 28880683, 31209146, 31409388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	16583245		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19770515, 30243068		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	LHGDN	18311801		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29323724		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25019155		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	16424351		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28123301		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30015970, 35421138	Associate	★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	28464982		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	21332025		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19098858		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	25973136	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32616510	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	21659498	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30736365		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations