COL11A2 (collagen type XI alpha 2 chain)

Gene

• Entrez ID: 1302
• Gene name: Collagen type XI alpha 2 chain
• Gene symbol: COL11A2
• Synonyms (NCBI Gene): DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chai

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41266697	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs41268014	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs113067047	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs121912945	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912946	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912947	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912948	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912949	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121912950	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912951	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912952	G>T	Likely-pathogenic, pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs145499142	G>A	Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs147576338	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs200523422	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200947059	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs374156844	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs375268140	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376797260	G>A	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs550153707	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs606231410	C>A,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs727502939	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs745434198	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs746754428	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs748440351	G>-,GG	Pathogenic-likely-pathogenic, uncertain-significance	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, upstream transcript variant
rs750995470	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs764450149	G>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs768569721	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs786205578	A>G,T	Likely-pathogenic	Synonymous variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs797044915	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs864309477	GCCCCGGGGGGCCTGGGTGACCTCTCT>-	Pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant
rs864309523	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886044584	CTTCC>T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs911722283	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554218503	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554220864	->C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554223504	G>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554225999	GG>C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554226209	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1562312539	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562315748	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1562336726	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583287711	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1583335192	TTCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583351636	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583366400	->G	Likely-pathogenic	Intron variant, frameshift variant, upstream transcript variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1583394539	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT902436	hsa-miR-3157-5p	CLIP-seq
MIRT902437	hsa-miR-3170	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902439	hsa-miR-4690-3p	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902441	hsa-miR-1912	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT1967696	hsa-miR-421	CLIP-seq
MIRT1967697	hsa-miR-4686	CLIP-seq
MIRT2203454	hsa-miR-1236	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT2203455	hsa-miR-4753-3p	CLIP-seq
MIRT2203456	hsa-miR-4768-5p	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT2203457	hsa-miR-942	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA2	Activation	16375854
SOX10	Activation	12783851
SOX9	Activation	12783851
SP1	Activation	16734381
SP3	Activation	16734381
SP7	Activation	16734381

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	10677296
GO:0001501	Process	Skeletal system development	NAS	7859284, 8838804
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	17703188
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005585	Component	Collagen type II trimer	IDA	24113490
GO:0005592	Component	Collagen type XI trimer	NAS	7859284, 8838804, 17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	10581026
GO:0007605	Process	Sensory perception of sound	IMP	9188673, 10677296, 16033917
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	NAS	7859284, 8838804
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030199	Process	Collagen fibril organization	IDA	9188673
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10677296
GO:0031012	Component	Extracellular matrix	HDA	28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IBA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IMP	9188673
GO:0060021	Process	Roof of mouth development	IMP	12673280
GO:0060023	Process	Soft palate development	IMP	10677296

Other IDs

• MIM: 120290
• HGNC: 2187
• e!Ensembl: ENSG00000204248

Protein

• UniProt ID: P13942
• Protein name: Collagen alpha-2(XI) chain
• Protein function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02210	Laminin_G_2	92 → 211	Laminin G domain	Domain
  PF01391	Collagen	396 → 450	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	485 → 546	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	528 → 606	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	832 → 900	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1099 → 1156	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1114 → 1175	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1539 → 1621	Fibrillar collagen C-terminal domain	Family
  PF01410	COLFI	1616 → 1734	Fibrillar collagen C-terminal domain	Family

• Sequence:

  MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAY
  RVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPV
  RFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSAR
  PVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQ
  PHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
  EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETEL
  GPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG
  PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQ
  ARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRA
  GADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
  GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLP
  GPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPR
  GVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPT
  GDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER
  GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKD
  GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTA
  GKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGER
  GAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVA
  GEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAK
  GDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
  GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD
  GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
  GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRP
  GATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSP
  GQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
  IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRP
  TGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT
  QFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP
  YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG

• Sequence length: 1736

Pathways

KEGG:

Cytoskeleton in muscle cells
Protein digestion and absorption

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Non-integrin membrane-ECM interactions
MET activates PTK2 signaling
Collagen chain trimerization

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 nonsyndromic hearing loss 13	Likely pathogenic; Pathogenic	rs2150532832, rs2534810137, rs2534413642, rs764045158, rs121912947, rs121912948, rs121912950, rs121912951, rs911722283, rs1583335192	RCV003155546 RCV005036902 RCV005037022 RCV005040599 RCV000018662 RCV000018663 RCV000761299 RCV002496405 RCV002489177 RCV003326527	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 53	Likely pathogenic; Pathogenic	rs1404134749, rs606231410, rs864309523, rs2534810137, rs2534413642, rs764045158, rs121912951, rs911722283, rs1562336726, rs550153707, rs1583366400	RCV002250856 RCV000202598 RCV000202578 RCV005036902 RCV005037022 RCV005040599 RCV002496405 RCV002489177 RCV000785022 RCV001004793 RCV001004792	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL11A2-related disorder	Likely pathogenic; Pathogenic	rs1387164225, rs149697159, rs2534796103, rs2534743360, rs757215211, rs121912947, rs121912950, rs1280126526	RCV003408012 RCV004542204 RCV003404678 RCV003909159 RCV003913950 RCV003398542 RCV004748528 RCV004544209	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrochondrogenesis 2	Pathogenic; Likely pathogenic	rs1455983505, rs2534810137, rs2534413642, rs764045158, rs121912951, rs2150577320, rs2150551158, rs911722283, rs1583335192	RCV001844332 RCV005036902 RCV005037022 RCV005040599 RCV002496405 RCV000022498 RCV000022499 RCV002489177 RCV000995511	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic Deafness	Pathogenic	rs606231410	RCV000148342	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic; Pathogenic	rs746754428	RCV005645112	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otospondylomegaepiphyseal dysplasia, autosomal dominant	Likely pathogenic; Pathogenic	rs2150555528, rs1417182811, rs2534894263, rs2534810137, rs2534413642, rs764045158, rs750995470, rs864309477, rs121912946, rs121912950, rs121912951, rs911722283, rs1554220864, rs1583287711	RCV001809269 RCV005860278 RCV005622221 RCV005036902 RCV005037022 RCV005040599 RCV000018657 RCV000018659 RCV000018660 RCV000018665 RCV002496405 RCV002489177 RCV004813122 RCV000856785	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Otospondylomegaepiphyseal dysplasia, autosomal recessive	Likely pathogenic; Pathogenic	rs2150548120, rs2535107319, rs770271840, rs2535272417, rs886044584, rs2534810137, rs2534413642, rs764045158, rs121912949, rs121912951, rs1562315748, rs911722283, rs1583351636, rs1583394539, rs1583335192	RCV001809326 RCV002468858 RCV004007574 RCV003314309 RCV003224871 RCV005036902 RCV005037022 RCV005040599 RCV000018664 RCV000018666 RCV000018668 RCV002489177 RCV000987676 RCV000987677 RCV001257573	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs121912947, rs1554216943	RCV000605765 RCV000602313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs1770116834	RCV001073747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic	rs745434198	RCV000415302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 33	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTIVE HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic hygroma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 33	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 53	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ear malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrochondrogenesis 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart, malformation of	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
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile hypophosphatasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Larsen-like syndrome, B3GAT3 type	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short long bone	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler Syndrome, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thickened nuchal skin fold	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29990873		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	27551000		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	29636359		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	31315986		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31482248		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30728452		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	26566670		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29075104		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25864590		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	34148301	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35363175	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26169874		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37524790	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	BEFREE	29407546		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal dominant otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25310109, 26592553, 28314788, 29085465, 29717768, 29928326		★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Hypoparathyroidism-deafness-renal disease syndrome	BEFREE	28477743		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B1	Brachydactyly	BEFREE	31280521		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29572254		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	22820987, 24415413, 25511378, 25975349		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15456408, 18837894, 19934756, 21409392, 21424107, 22015278, 22485147, 22586318, 22915751, 22915752, 22948662, 24191908, 25528020, 25769025, 25796377, 25975349, 25981734, 26530780, 26614429, 26713604, 26801247, 27426307, 27666310, 27708239, 27997688, 28031413, 28034904, 28138868, 28167507, 28183251, 28395540, 28439535, 28583748, 28765325, 29166620, 29180466, 29212245, 29382645, 29644491, 29684820, 29866945, 29884921, 29917049, 30023007, 30038706, 30075398, 30181424, 30232143, 30234015, 30251552, 30324586, 30333000, 30429212, 30520757, 30647872, 30970626, 31015319, 31151842, 31181965, 31753490, 31784542, 9295059, 9816283		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19242112, 19589159, 22915752, 22987487, 27708239, 28765325, 29587668, 32657779, 33121449, 35279688, 37298108, 37756561, 39243563, 40421962	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	36012375	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24240112, 29617652, 30666631, 31827092		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23275151, 23966292, 24164298, 24191958, 25917567, 28848138, 31216465, 31753490		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33352687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	27372520		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19699512, 23066035, 23729402, 24168967, 24413181, 24727989, 24798692, 24984781, 25589624, 25634215, 26169965, 26520390, 26774475, 26909613, 27016230, 27065456, 27169997, 27374179, 27810860, 27884198, 28454085, 28477743, 28601509, 28643177, 28692638, 28740454, 28790837, 28882436, 28933580, 28984489, 29037805, 29037806, 29081841, 29189915, 29232464, 29262321, 29352572, 29464354, 29512470, 29567272, 29644491, 29684820, 29703482, 29871906, 30177437, 30266954, 30342021, 30353044, 30444904, 30540933, 30543930, 30551885, 30555227, 30661659, 30666631, 30926640, 30967398, 31037967, 31076742, 31117037, 31335830, 31591108, 31594824, 31630846, 31653094, 31815769		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage Diseases	CTD_human_DG	11668593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage disease	Pubtator	26973327	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Cerebral Infarction	BEFREE	28095779		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10657571		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28537893, 28993682, 30283446, 31303961, 31434613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28537893, 28993682, 30283446, 31303961, 31434613		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15596292, 24959916		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31605774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	40527032	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondromalacia	Chondromalacia	CTD_human_DG	11668593		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31312595		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	31201471		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	36142413	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30867423		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30867423		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24439051, 28034907, 28751718		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26979391		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	19940360	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25533544, 25926267		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18006925, 20559012, 22230687, 24885920, 27064876, 27815980, 29203587, 29335212, 30864743, 31199053		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31040202	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21037106, 22385513, 24215868, 26506418, 27746584, 28886275, 30410539, 30477538, 30588113, 31190740		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28049506	Associate	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	22410125		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25292178		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28913568		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15374823		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	22246659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15144896, 15188008, 29435132		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34347013	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28286054		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	16033917, 30682115	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	UNIPROT_DG	10581026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	BEFREE	12324385, 24378291, 27142990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	GENOMICS_ENGLAND_DG	14234962, 9805126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	CLINVAR_DG	15372529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 13	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 44	Deafness	BEFREE	27142990		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 9	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 53	Deafness	GENOMICS_ENGLAND_DG	14234962, 9805126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 53	Deafness	UNIPROT_DG	16033917, 25633957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 53	Deafness	BEFREE	16752389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 53	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 53	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	15922184, 18381781, 21204229, 28741447, 31440033		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	32396528	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20824098, 26391545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20824098, 26391545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11591122		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28224182		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29966615		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26391545		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10353778, 10486316, 10581026, 10677296, 10733181, 16033917, 16637051, 21671392, 22246659, 2463256, 2760050, 7859284, 813535, 8838804, 9188673, 9506662, 9805126		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	30357520		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27470351, 28454476, 28886696, 29436682		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35725817	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19699512, 24413181, 24798692, 25634215, 27374179, 28477743, 28740454, 29037805, 29232464, 29262321, 29512470, 30444904, 30661659, 31037967, 31076742, 31653094		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31002369		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31002369		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25779942, 26056084, 28899971, 29358035, 30348635		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	25658765		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28540598		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	31002369		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	12749865, 22264603, 23966292, 25583207, 25609062, 26848151		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	12749865, 22264603, 23966292, 25583207, 25609062, 26848151		★☆☆☆☆ Found in Text Mining only
Fibrochondrogenesis	Fibrochondrogenesis	BEFREE	22246659		★☆☆☆☆ Found in Text Mining only
Fibrochondrogenesis	Fibrochondrogenesis	ORPHANET_DG	22246659		★☆☆☆☆ Found in Text Mining only
Fibrochondrogenesis	Fibrochondrogenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibrochondrogenesis	Fibrochondrogenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FIBROCHONDROGENESIS 2	Fibrochondrogenesis	GENOMICS_ENGLAND_DG	22246659, 9805126		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrosis, Liver	Liver Fibrosis	BEFREE	28757911		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	29513793	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	28302009		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24356817, 36076555	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24647572, 25531448, 26438157, 26794465, 27655368, 27845331, 28314386, 29572254, 29935053, 29961065, 29976574, 30092165, 30627327, 30723695, 30832617, 31266951, 31827085		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24647572, 25531448, 25576921, 26438157, 26794465, 27655368, 27845331, 28314386, 29572254, 29935053, 29961065, 29976574, 30092165, 30627327, 30723695, 30832617, 31266951, 31827085		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25576921, 26559910		★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30936621		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35363175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Conductive	Conductive hearing loss	Pubtator	24378291	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	21208667	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29278652		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15374823		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	28695521		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28765325, 35642638, 35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	31002019		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	27590317		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29866945		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASDB_DG	24149102		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31065944		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18366759	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	28399901		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24270264		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	21706479		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27477082	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	16133074, 30548218, 33536009	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30548218		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	30548218	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29990833, 30177808		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	27551000		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28224182		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30867423		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30323866		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28299675, 29423093, 29990873, 31775111		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29339439, 35273342	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24435446, 27503200, 28673584, 29339439, 30472087, 31028744, 31633196		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	27551000		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	16637051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31768967		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	28399901		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18059167, 26661118, 28069043, 29200736, 30573522		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	21703211		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24085778, 25077527, 29200736		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22606268, 24164298		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10207165		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29976663		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	22868923	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29866945		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30936621		★☆☆☆☆ Found in Text Mining only
Malignant hyperthermia susceptibility type 1	Malignant hyperthermia	Pubtator	32486089	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21543585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15456408, 18837894, 19934756, 20127978, 20802015, 21069454, 21409392, 21424107, 22015278, 22485147, 22586318, 22915751, 22915752, 22948662, 22987487, 24191908, 25528020, 25769025, 25796377, 25975349, 25981734, 26317927, 26530780, 26614429, 26713604, 26801247, 27426307, 27666310, 27708239, 27997688, 28031413, 28034904, 28138868, 28167507, 28183251, 28395540, 28439535, 28583748, 28765325, 29166620, 29180466, 29212245, 29382645, 29644491, 29684820, 29866945, 29884921, 29917049, 30023007, 30038706, 30075398, 30108102, 30181424, 30232143, 30234015, 30251552, 30324586, 30333000, 30429212, 30520757, 30647872, 30755715, 31015319, 31151842, 31181965, 31456944, 31753490, 31784542, 9295059		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28454476, 28886696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31002369		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23275151, 23966292, 24164298, 24191958, 25917567, 28848138, 31216465, 31753490		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31768967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18837894, 22987487, 23729402, 23847380, 24168967, 24727989, 24984781, 25437005, 25490527, 25589624, 26169965, 26520390, 26745875, 26774475, 26909613, 27016230, 27065456, 27169997, 27282964, 27702817, 27810860, 27884198, 28454085, 28601509, 28643177, 28692638, 28747513, 28790837, 28882436, 28933580, 28984489, 29037806, 29081841, 29189915, 29352572, 29464354, 29512470, 29567272, 29615458, 29617652, 29644491, 29684820, 29703482, 29866945, 29871906, 30177437, 30266954, 30342021, 30353044, 30540933, 30543930, 30551885, 30555227, 30666631, 30797591, 30926640, 31117037, 31126961, 31303961, 31335830, 31591108, 31594824, 31630846, 31815769		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24534203, 25117293, 26881472, 28656219, 30407790, 30660828, 30681819, 30940721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12664070, 21571912, 22179663, 22666381, 23847380, 24866151, 25127709, 25583815, 26026052, 26210103, 26909613, 27169997, 27188668, 27426307, 27590317, 27596623, 27600766, 28323658, 28415632, 28450426, 28540598, 28583748, 28851861, 29138344, 29465803, 29500400, 29526801, 30234108, 30305041, 30478958, 31006810, 31060606, 31232159, 31310591, 31796516		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26511885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22982218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30786932		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15743666, 15836799, 18832051, 18837894, 19934756, 20351092, 21034216, 21360002, 21424107, 21487248, 21822267, 22128301, 22586318, 22983061, 23193155, 23436410, 23512992, 23691191, 23847380, 24225019, 24415413, 24535435, 24577941, 24898058, 24939750, 25286972, 25686825, 25833690, 25851856, 26169874, 26658963, 26979391, 27169997, 27334689, 27426307, 27440269, 27550963, 27610459, 27671334, 27702817, 27728808, 27884198, 27995810, 28002809, 28003236, 28034904, 28078281, 28146604, 28167507, 28202508, 28302823, 28356425, 28388401, 28415632, 28439535, 28454476, 28457938, 28583748, 28601509, 28610746, 28628639, 28646019, 28695500, 28695521, 28699513, 28747513, 28763648, 28765325, 28790064, 28823558, 28847819, 28978150, 29037806, 29112893, 29113422, 29138344, 29152062, 29180466, 29203587, 29260919, 29352572, 29414021, 29475156, 29620483, 29866945, 29871906, 29976574, 30012480, 30140387, 30201826, 30274183, 30352801, 30429212, 30593284, 30658897, 30723695, 30760478, 30874560, 30989114, 30996287, 31013702, 31185206, 31186408, 31202733, 31273204, 31299316, 31306986, 31362565, 31395352, 31416802, 31466918, 31727767, 31753490, 9295059		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28537893, 28993682, 30283446, 31303961, 31434613		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18006925, 20559012, 22230687, 24885920, 27064876, 29203587, 29335212		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22820987, 24131964, 29180466, 30554948, 31499327		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	30280214		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	26658105		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	24577941		★☆☆☆☆ Found in Text Mining only
Megaepiphyseal dwarfism	Megaepiphyseal Dwarfism	CTD_human_DG	16637051		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31133874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory dysfunction	Memory Disorders	BEFREE	30177808		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	29570891		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23525508, 28223140		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	32004714	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26091343, 27090903		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28219716	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28219716, 28883796		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28450425, 29248718, 31732654		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	12673280		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	19429011, 29051731		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30139961	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	9028444		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	29048624		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	20618517		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10353778, 10486316, 10581026, 10677296, 10733181, 16033917, 16637051, 21671392, 22246659, 2463256, 2760050, 7859284, 813535, 8838804, 9188673, 9506662, 9805126		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17384201, 21216463, 27189701, 28382147, 28858294, 29467487, 31427718		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30301882	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	9028444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35273342	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30615982		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23979918, 30717758		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25337187, 30717758	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	26312527, 29075784	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10597301, 11948969, 12455052, 15010879, 18006925, 18059167, 18547621, 19648052, 20127978, 20209601, 20225287, 21109939, 21409392, 21571912, 21637635, 21988227, 22915751, 22915752, 22965279, 23087057, 23110154, 23165508, 23275151, 23533664, 24191958, 24265759, 24694877, 24784564, 24798692, 25050737, 25302833, 25528020, 25583815, 25686825, 25868852, 25883215, 26069190, 26091343, 26215403, 26469962, 26530780, 26658963, 26661118, 26713604, 26881472, 26934368, 27188668, 27282964, 27533253, 27559053, 27596623, 27884198, 27993965, 27997688, 28034751, 28034904, 28169543, 28211448, 28228392, 28314386, 28500233, 28537893, 28601509, 28619759, 28678836, 28745064, 28747513, 29133592, 29138344, 29199015, 29254481, 29260919, 29262321, 29467487, 29530602, 29592899, 29606109, 29627078, 29770446, 29866945, 29898385, 29917049, 29941481, 29945991, 30099369, 30333000, 30352801, 30391013, 30400006, 30425037, 30425572, 30470508, 30477538, 30540933, 30576655, 30589644, 30681819, 30717758, 30738018, 30760478, 30864743, 30899378, 31015319, 31029033, 31076742, 31128995, 31196855, 31266951, 31320901, 31431131, 31653094		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	22244202		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21859926, 25736927, 28394338, 28830922		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37020276	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30414941		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	22396666		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21706479, 23275151, 23428903, 24191958, 25302833, 26975633, 28460475, 28461256, 28982084, 29133592, 29152062, 30076413, 30589644, 31753490, 31795418		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	10581026, 15141750, 16033917, 19486694, 25633957, 26445815		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG	25633957		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	28219716	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	16827122		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28603561, 37350193	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26973327, 31173883, 35363175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	15922184, 28741447	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	10788539		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28741447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	7859284		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	20225287	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29313488, 29784019		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	BEFREE	10677296, 11668593, 15558753, 16189708, 16637051, 18381781, 21204229, 21208667, 25633957, 9188673		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	UNIPROT_DG	10677296, 7859284		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	CLINGEN_DG	10677296, 11668593, 15141750, 15372529, 15558753, 15922184, 16637051, 19486694, 21204229, 21208667, 22796475, 25780254, 7859284, 9506662, 9805126		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	ORPHANET_DG	10677296, 21438135		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	GENOMICS_ENGLAND_DG	14234962, 22246659, 9805126		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	CTD_human_DG	16637051		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ovalocytosis, Malaysian-Melanesian-Filipino Type	Ovalocytosis	BEFREE	11677271		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	28882436, 30266954, 30666631		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29685880		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23729402, 24168967, 24727989, 24984781, 25589624, 26169965, 26520390, 26774475, 26909613, 27016230, 27065456, 27169997, 27810860, 27884198, 28454085, 28601509, 28643177, 28692638, 28790837, 28933580, 28984489, 29037806, 29081841, 29189915, 29352572, 29464354, 29512470, 29567272, 29644491, 29684820, 29703482, 29871906, 30177437, 30342021, 30353044, 30540933, 30543930, 30551885, 30555227, 30926640, 31117037, 31303961, 31335830, 31591108, 31594824, 31630846, 31815769		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25499884, 28497333, 32193378, 33352723, 33722571, 34363951, 35200549, 35642638, 35964058, 36142413, 36224341, 36969741	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	31423128		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	29490557		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24534203, 26881472, 28656219, 30681819, 30940721		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24536047, 25864590, 31002019, 31126889		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	26924195		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38194775	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	BEFREE	31002019		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	29636359		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29027992, 30385548		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24536047		★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	31462148		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	29636359		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	12673280		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pierre Robin syndrome with fetal chondrodysplasia	Pierre-Robin Syndrome	CLINGEN_DG	10677296, 11668593, 15141750, 15372529, 15558753, 15922184, 16637051, 19486694, 21204229, 21208667, 22796475, 25780254, 7859284, 9506662, 9805126		★☆☆☆☆ Found in Text Mining only
Pierre Robin syndrome with fetal chondrodysplasia	Pierre-Robin Syndrome	GENOMICS_ENGLAND_DG	14234962, 15372529, 22246659, 9805126		★☆☆☆☆ Found in Text Mining only
Pierre Robin syndrome with fetal chondrodysplasia	Pierre-Robin Syndrome	BEFREE	15558753, 9805126		★☆☆☆☆ Found in Text Mining only
Pierre Robin syndrome with fetal chondrodysplasia	Pierre-Robin Syndrome	UNIPROT_DG	7859284, 9506662, 9805126		★☆☆☆☆ Found in Text Mining only
Pierre Robin syndrome with fetal chondrodysplasia	Pierre-Robin Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	25818403		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12664070, 21571912, 22179663, 22666381, 24866151, 25127709, 26026052, 26210103, 27169997, 27426307, 27590317, 27596623, 27600766, 28323658, 28415632, 28540598, 28583748, 28851861, 29138344, 29465803, 29500400, 29526801, 30234108, 30305041, 30478958, 31006810, 31060606, 31232159, 31310591, 31796516		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	20551068		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25127709, 26026052, 28415632, 28450425, 30833416, 31232159, 31796516, 32071115, 32127357, 33012578, 34045297, 34897998, 35131040, 36650183, 37170264, 39577422	Associate	★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	29490557		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31164820		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	20559012		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15144896, 15188008, 29435132		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28224182		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30973576		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30357520, 31031007		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21293383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	12554743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	28399901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	16637051		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	17136632		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	16637051		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27440269, 28212573, 29330466, 29570891, 29941481, 29945991, 30203184, 30327308, 30354077, 30760478, 30777870, 31148500, 31416802, 31575562		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28212573, 33339368	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	22820987		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26090615, 30887517, 31002369		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28277882, 29862232		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29719599		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	30156925		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	28399901		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	11668593, 15372529, 15558753, 16752401, 21204229, 25240749, 25780254, 7833911, 8872475, 9091360, 9188673, 9506662, 9805126, 9805127		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	22522174, 32558342, 33348901, 33570243, 34405586, 9188673	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 2	Stickler syndrome	Pubtator	33348901	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	11668593, 15372529, 15558753, 16752401, 21204229, 25240749, 25780254, 7833911, 8872475, 9091360, 9188673, 9506662, 9805126, 9805127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 3	Stickler syndrome	GENOMICS_ENGLAND_DG	15372529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 3	Stickler syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 3	Stickler syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	BEFREE	10718438		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31812083		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17007014, 26511885, 35000531, 37129948	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft soft palate	Submucous cleft of soft and hard palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	23613505		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22982218		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22982218		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29240252		★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	29974386		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	20664514, 21593597, 22915752, 23110154, 25770156, 26294743, 26546619, 26801247, 27626685, 27694903, 28034904, 28069724, 28205193, 28235006, 28958991, 29152062, 29180466, 29696717, 29736741, 30259975, 30323975, 30661659, 30672063, 30725116, 30824588, 31015319, 31029033, 31519327, 31551501, 31754897		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22915752, 36941406	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12673280, 20672350		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27595989, 32277642	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26439985	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	25144715	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	28138035	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	BEFREE	31146482, 31487962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
WARSAW BREAKAGE SYNDROME	Warsaw Breakage Syndrome	BEFREE	25583207		★☆☆☆☆ Found in Text Mining only