COL2A1 (collagen type II alpha 1 chain)

Gene

• Entrez ID: 1280
• Gene name: Collagen type II alpha 1 chain
• Gene symbol: COL2A1
• Synonyms (NCBI Gene): ACG2, ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED
• Chromosome: 12
• Chromosome location: 12q13.11
• Summary: This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED cong

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912864	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912868	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912869	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912870	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912871	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912872	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912873	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs121912874	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912876	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912877	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912878	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912880	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912881	C>A	Pathogenic	Coding sequence variant, missense variant
rs121912883	C>G	Pathogenic	Coding sequence variant, missense variant
rs121912884	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121912885	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912886	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912887	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912888	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912889	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912890	G>T	Pathogenic	Coding sequence variant, stop gained
rs121912891	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912893	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121912894	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912895	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912896	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, stop gained
rs121912897	G>A,T	Pathogenic	Synonymous variant, stop gained, 5 prime UTR variant, intron variant, coding sequence variant
rs121912898	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs121912899	C>A	Pathogenic	Coding sequence variant, missense variant
rs138498898	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139114389	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs147202936	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150237416	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201575114	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201823490	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202002349	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202210896	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs398123628	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776847	C>-	Pathogenic	Splice donor variant
rs672601354	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs672601355	->ACCCAGGAG	Pathogenic	Coding sequence variant, inframe insertion
rs727503882	C>G,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs748459670	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs751205887	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs753342774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs760093841	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs764210489	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, 5 prime UTR variant
rs765795867	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs786205477	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794727026	C>T	Pathogenic	Splice donor variant
rs794727185	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727202	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727225	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727261	G>T	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, coding sequence variant
rs794727339	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794727377	T>G	Pathogenic	Splice acceptor variant
rs794727438	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794727462	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727472	C>A,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs794727533	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727546	C>G	Pathogenic	Missense variant, coding sequence variant
rs794727684	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794727748	GTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727761	GGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864621973	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs868417981	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs869312907	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041843	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886041895	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041935	C>T	Pathogenic	Splice acceptor variant
rs886041945	C>G	Pathogenic	Coding sequence variant, missense variant
rs886042612	C>G	Pathogenic	Coding sequence variant, missense variant
rs886042651	G>A	Pathogenic	Coding sequence variant, stop gained
rs886042741	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043356	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043561	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886043712	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886043794	C>T	Pathogenic	Splice donor variant
rs886043797	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043934	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886044245	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs886044555	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1025202963	C>T	Pathogenic	Missense variant, coding sequence variant
rs1045330263	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1057518157	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1057518908	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518911	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521852	T>C,G	Likely-pathogenic	Intron variant
rs1057524602	C>A	Pathogenic	Missense variant, coding sequence variant
rs1057524696	C>G,T	Pathogenic	Splice donor variant
rs1064793352	A>G	Likely-pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1064794264	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794958	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064796170	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796332	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064797167	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307608	G>A	Pathogenic	Stop gained, coding sequence variant
rs1085307657	C>G	Pathogenic	Missense variant, coding sequence variant
rs1131691546	GT>TA	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1131691822	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131692022	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1246771678	G>A,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, stop gained, synonymous variant
rs1269619781	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1408154129	C>T	Pathogenic	Intron variant
rs1481453913	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1555164217	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555164232	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164385	TCGTCCAGATA>GGCAATGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1555164672	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555164735	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164789	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555164874	C>T	Likely-pathogenic	Splice donor variant
rs1555165110	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555165183	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555165195	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555165204	C>T	Pathogenic	Splice acceptor variant
rs1555165237	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165242	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165245	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555165335	CACGGGGCCAGGAGGACC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555165336	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555166658	C>T	Likely-pathogenic	Splice donor variant
rs1555166729	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555166808	C>T	Likely-pathogenic	Splice donor variant
rs1555166826	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167058	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555167067	->C	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555167139	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167140	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555167156	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167157	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167368	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555167372	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555167439	GGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555167449	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167770	ACAACAGGGCACGTACCTTG>GCAACAGGGT	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555167783	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555167847	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555168309	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1555168505	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555168542	A>C	Likely-pathogenic	Intron variant
rs1555168840	C>G	Likely-pathogenic	Splice acceptor variant
rs1555168965	T>-	Likely-pathogenic	Intron variant
rs1565664095	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1565664375	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565666048	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565666318	C>G	Pathogenic	Splice acceptor variant
rs1565679039	T>A	Pathogenic	Stop gained, coding sequence variant
rs1565679062	C>T	Pathogenic	Missense variant, coding sequence variant
rs1565681966	A>C	Likely-pathogenic	Splice donor variant
rs1565683138	GGGCCCTGAGGACCAGCA>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1565683713	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565684864	C>T	Pathogenic	Splice acceptor variant
rs1565686170	C>G	Likely-pathogenic	Splice donor variant
rs1565686896	G>A	Pathogenic	Stop gained, coding sequence variant
rs1592192920	CTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592196064	A>G	Pathogenic	Splice donor variant
rs1592196744	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592196867	C>T	Pathogenic	Splice acceptor variant
rs1592197682	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592197752	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592198747	C>G	Pathogenic	Missense variant, coding sequence variant
rs1592198803	T>C	Likely-pathogenic	Splice acceptor variant
rs1592199296	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592202517	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1592214400	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592217071	CT>-	Likely-pathogenic	Splice acceptor variant
rs1592218346	C>T	Pathogenic	Intron variant
rs1592218614	TCT>GGTCACA	Pathogenic	Frameshift variant, coding sequence variant
rs1592221192	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592230091	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1592232040	C>T	Pathogenic	Missense variant, coding sequence variant
rs1592232116	T>C	Pathogenic	Splice acceptor variant
rs1592233968	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592235124	A>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592235212	GG>T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592235241	G>-,GG	Likely-pathogenic, pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1592238899	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048314	hsa-miR-106a-5p	CLASH	23622248
MIRT053741	hsa-miR-29b-3p	Microarray	22942087

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Repression	19022820
RELA	Repression	19022820
SOX9	Activation	18636947;20529846
SOX9	Repression	12713737
SOX9	Unknown	15623506;18759300;20039424
SP1	Activation	12888570;18065760
SP1	Repression	12888570
SP3	Activation	12888570
SP3	Repression	18065760

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	1429602
GO:0001502	Process	Cartilage condensation	IEA
GO:0001503	Process	Ossification	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005585	Component	Collagen type II trimer	IBA
GO:0005585	Component	Collagen type II trimer	IDA	8660302, 24113490
GO:0005585	Component	Collagen type II trimer	IEA
GO:0005592	Component	Collagen type XI trimer	IDA	7642541
GO:0005592	Component	Collagen type XI trimer	NAS	17876790
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	20603131
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007601	Process	Visual perception	IMP	10486316, 16752401
GO:0007605	Process	Sensory perception of sound	IMP	16752401
GO:0010468	Process	Regulation of gene expression	IEA
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	IC	8660302
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	27559042, 28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IMP	1429602
GO:0030903	Process	Notochord development	IEA
GO:0031012	Component	Extracellular matrix	HDA	23658023, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0042289	Function	MHC class II protein binding	IPI	9354468
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	8660302
GO:0043394	Function	Proteoglycan binding	IDA	29030641
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048513	Process	Animal organ development	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	TAS	7550321
GO:0060021	Process	Roof of mouth development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IMP	16752401
GO:0060348	Process	Bone development	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0097065	Process	Anterior head development	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 120140
• HGNC: 2200
• e!Ensembl: ENSG00000139219

Protein

• UniProt ID: P02458
• Protein name: Collagen alpha-1(II) chain (Alpha-1 type II collagen) [Cleaved into: Collagen alpha-1(II) chain; Chondrocalcin]
• Protein function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
• PDB: 1U5M, 2FSE, 2SEB, 5NIR, 5OCX, 5OCY, 6BIN, 6HG7, 6NIX, 7NZE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00093	VWC	34 → 89	von Willebrand factor type C domain	Family
  PF01391	Collagen	116 → 182	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	199 → 260	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	237 → 317	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	429 → 498	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	792 → 860	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1158 → 1217	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1251 → 1486	Fibrillar collagen C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. {ECO:0000269|PubMed:2355003}.
• Sequence:

  MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTG
  TVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKG
  PPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFA
  AQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMG
  PRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG
  EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVG
  PAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG
  SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQG
  APGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAG
  PKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG
  VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPG
  PSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRG
  LPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPG
  KDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG
  ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG
  AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPG
  DDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPG
  PVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAG
  PTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQG
  LPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG
  PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK
  SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETG
  ETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRL
  LSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTK
  HTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL

• Sequence length: 1487

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 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
Abnormality of the skeletal system	Likely pathogenic; Pathogenic	rs1555168505	RCV001814182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Absent vertebral body mineralization	Pathogenic	rs765795867	RCV000415214	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acetabular dysplasia	Pathogenic	rs121912876	RCV003228897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achondrogenesis type II	Likely pathogenic; Pathogenic	rs2136526614, rs2136522964, rs2136577158, rs2136551606, rs2136526244, rs1447463543, rs2136526515, rs2136576211, rs2540091565, rs2540132223, rs2540151788, rs2540129721, rs886044555, rs2540133960, rs1555165336, rs2540187271, rs121912876, rs121912878, rs121912879, rs121912884, rs121912888, rs121912899, rs121912868, rs1057518911, rs765795867, rs1555165494, rs1555165335, rs1555165245, rs1555166729, rs1555165242, rs868417981, rs1565681966, rs1592235241, rs1939124946	RCV003388006 RCV003323909 RCV001808940 RCV001822977 RCV002227895 RCV002260533 RCV002273087 RCV002279899 RCV003151699 RCV003157996 RCV003236501 RCV003328140 RCV003987496 RCV003447778 RCV003485995 RCV003988408 RCV003323361 RCV000018915 RCV000022480 RCV001197973 RCV000022481 RCV000022483 RCV004555254 RCV001196300 RCV001196261 RCV003330729 RCV000505580 RCV001198649 RCV000578377 RCV001822860 RCV000781310 RCV000781309 RCV002265925 RCV001199202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant rhegmatogenous retinal detachment	Pathogenic; Likely pathogenic	rs121912893, rs121912894	RCV000018939 RCV000018940	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Avascular necrosis of femoral head, primary, 1	Likely pathogenic; Pathogenic	rs2136528419, rs1939281881, rs121912891, rs387906558	RCV002272655 RCV003444024 RCV000018935 RCV000018937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL2A1-related disorder	Likely pathogenic; Pathogenic	rs2136555221, rs2136512528, rs2136514646, rs2136508909, rs2136571484, rs1939584878, rs1476546104, rs2136551606, rs2136518157, rs2136616399, rs2136556600, rs866502805, rs867799325, rs1555164874, rs2136510866, rs2540122196, rs886039543, rs886042651, rs747935160, rs2540139870, rs2540143322, rs794727339, rs2540102569, rs1592205758, rs2540183519, rs2540151727, rs2540148817, rs2540107709, rs2540135652, rs2540169027, rs121912870, rs121912884, rs121912897, rs1057524114, rs1131691822, rs1555165494, rs1555164789, rs1246771678, rs1592235241, rs1399676515, rs1399741348, rs1939205327, rs1939189846	RCV004545218 RCV004734165 RCV005866990 RCV004528523 RCV004542095 RCV004528538 RCV004536325 RCV004728836 RCV004542134 RCV006249192 RCV004529065 RCV004728915 RCV004529024 RCV004538681 RCV004538688 RCV005869921 RCV004725402 RCV004529456 RCV004734925 RCV004531594 RCV004528656 RCV004534389 RCV004527895 RCV004529313 RCV004528034 RCV004528020 RCV004531617 RCV004536637 RCV004536871 RCV005250320 RCV004534576 RCV005867784 RCV004528123 RCV004532390 RCV004533123 RCV004527601 RCV005869521 RCV004530726 RCV004533444 RCV005870931 RCV005871111 RCV004734006 RCV004528383 RCV005866914	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL2A1-related phenotype	Likely pathogenic	rs1592221192	RCV000985043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL2A1-related skeletal dysplasia	Likely pathogenic; Pathogenic	rs794727472, rs1938718648	RCV000853367 RCV001265585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs527236145, rs1939004215, rs2136532474, rs2136526413, rs2136525233, rs2136525107, rs2136504667, rs2136621947, rs2136576254, rs2136571594, rs2136567637, rs1939281881, rs1231988113, rs2136549103, rs2136546742, rs121912870, rs1085307608, rs1555167139, rs1939205327	RCV002277280 RCV002278691 RCV002278692 RCV002278693 RCV002278694 RCV002278695 RCV002278697 RCV002278698 RCV002278826 RCV002278830 RCV002278844 RCV002278845 RCV002278846 RCV002278848 RCV002278849 RCV002276564 RCV002279261 RCV000659393 RCV002276622	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disproportionate short-limb short stature	Likely pathogenic	rs1057518911	RCV000415337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Pathogenic	rs1085307608	RCV002264702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypochondrogenesis	Pathogenic	rs121912864, rs121912867, rs121912868	RCV000018895 RCV000018901 RCV000018903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kniest dysplasia	Pathogenic; Likely pathogenic	rs886043794, rs2136558900, rs2136571551, rs2136590070, rs1165582049, rs1064794958, rs2136567546, rs2136577094, rs2136590361, rs2540169004, rs2540152086, rs2136609285, rs794727377, rs121912877, rs587776847, rs1565686170	RCV001787131 RCV001775492 RCV001787260 RCV001787275 RCV001787276 RCV001787281 RCV001806408 RCV001806419 RCV002243470 RCV002306436 RCV003485994 RCV000018906 RCV000018913 RCV000018914 RCV000018918 RCV000761423	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Legg-Calve-Perthes disease	Pathogenic	rs121912891	RCV000018936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci syndrome	Likely pathogenic	rs2136556852	RCV002227902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MASS syndrome	Likely pathogenic	rs745788222	RCV001731208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathia	Pathogenic	rs1085307608	RCV002264702	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple epiphyseal dysplasia, Beighton type	Pathogenic	rs886043794, rs121912882	RCV001353381 RCV000018922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Pathogenic	rs121912882	RCV000414959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Pathogenic; Likely pathogenic	rs121912865, rs121912870	RCV000018896 RCV002272023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Narrow chest	Likely pathogenic	rs1057518911	RCV000415337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otospondylomegaepiphyseal dysplasia, autosomal dominant	Pathogenic	rs1481453913, rs1045330263	RCV000856777 RCV000856812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Otospondylomegaepiphyseal dysplasia, autosomal recessive	Pathogenic	rs1565683138	RCV000679956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platyspondylic dysplasia, Torrance type	Likely pathogenic; Pathogenic	rs2136528309, rs1476546104, rs2136571455, rs886042849, rs2540175331, rs121912889, rs1592192920	RCV001645002 RCV001808048 RCV002251183 RCV003314051 RCV003153183 RCV000018931 RCV000018932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal detachment	Pathogenic	rs1592230091	RCV001002985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121912884, rs1939312423, rs1399741348	RCV001074673 RCV001074728 RCV001073695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short ribs	Pathogenic	rs765795867	RCV000415214	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs1938610955	RCV001175298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, Strudwick type	Likely pathogenic; Pathogenic	rs2136555177, rs2136522964, rs2136564199, rs2136514291, rs2136575653, rs2136590361, rs2540152190, rs1438029595, rs121912875, rs1939319350, rs121912870, rs121912871, rs121912881, rs1555168505	RCV005253819 RCV001806243 RCV003444064 RCV001787266 RCV001787282 RCV002243470 RCV003444052 RCV003444053 RCV003444081 RCV003459034 RCV001729352 RCV002280862 RCV002509163 RCV002509165 RCV001027723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia congenita	Likely pathogenic; Pathogenic	rs2136516927, rs2136564199, rs2136551691, rs121912879, rs2136518773, rs2136516744, rs121912870, rs2136619125, rs2136508895, rs2136505985, rs2136605023, rs1423486005, rs2136579152, rs2540113631, rs2540136191, rs794727684, rs1455304547, rs864621973, rs2540175543, rs886042651, rs886042849, rs2540147368, rs1555164872, rs121912874, rs121912883, rs1085307657, rs1555168505, rs1025202963, rs1555167783, rs1565679062, rs1939205327, rs1939412490, rs1938688718, rs1938718648, rs1938864270	RCV005864564 RCV001787261 RCV001787262 RCV001787263 RCV001787264 RCV001787265 RCV001787267 RCV001787268 RCV001787269 RCV001787271 RCV001787277 RCV001787278 RCV001787280 RCV002282590 RCV002290047 RCV005864460 RCV002512508 RCV000205306 RCV003123311 RCV001849362 RCV001787094 RCV003444051 RCV000018894 RCV000018905 RCV000018910 RCV000018924 RCV002470878 RCV001254635 RCV005253030 RCV000659390 RCV000770981 RCV001787123 RCV001251152 RCV001257162 RCV001787128 RCV001293670	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia with metatarsal shortening	Pathogenic; Likely pathogenic	rs869312907, rs121912876, rs1939189846	RCV005253929 RCV000018912 RCV001332046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia, Namaqualand type	Likely pathogenic	rs768207318	RCV001375853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia, Stanescu type	Likely pathogenic; Pathogenic	rs1939173389, rs869312907, rs886041895, rs2540107727, rs760093841, rs1592198747, rs1592197682	RCV005252119 RCV000210454 RCV005252853 RCV003337795 RCV000515452 RCV000824844 RCV001029739	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia - Sutcliffe type	Pathogenic	rs886039542, rs1939617011	RCV001194467 RCV001194466	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia, Schmidt type	Likely pathogenic; Pathogenic	rs794727684	RCV005055085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloperipheral dysplasia	Likely pathogenic; Pathogenic	rs1939463507, rs886043540, rs2136522964, rs2136604599, rs2136610684, rs2136587685, rs2136508967, rs2540122331, rs2136516744, rs121912880, rs886043356, rs121912874, rs2136504869, rs121912889, rs121912890, rs1592198803, rs1939445848	RCV001375980 RCV002250755 RCV005253868 RCV001729973 RCV001787273 RCV001787279 RCV002271681 RCV002287215 RCV002287304 RCV000985160 RCV003152704 RCV000995718 RCV000018923 RCV000022482 RCV000018934 RCV001029820 RCV001293715	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Pathogenic	rs1592218346	RCV001002986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Likely pathogenic; Pathogenic	rs2136512643, rs2136510769, rs1555164874, rs672601354, rs672601355, rs2540177721, rs2540111730, rs748459670, rs121912866, rs121912877, rs121912884, rs121912893, rs121912897, rs1592217071, rs1592235124, rs1399741348	RCV006442487 RCV006437107 RCV005250220 RCV000149457 RCV000149458 RCV006442803 RCV006437175 RCV006439709 RCV006439577 RCV006436389 RCV006277651 RCV004689424 RCV006277652 RCV000826159 RCV006443672 RCV006443707	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome type 1	Likely pathogenic; Pathogenic	rs2136555221, rs2136514646, rs2136552560, rs2136521006, rs2136619163, rs2136528419, rs2136537559, rs2136539942, rs140580674, rs2136508909, rs2136590109, rs2136561510, rs2136618963, rs2136504667, rs2136507956, rs2136520087, rs2136537220, rs1565677720, rs886041429, rs2136516942, rs867799325, rs2540180043, rs2136538046, rs2136567630, rs2136567807, rs2136571080, rs2136505595, rs2136571005, rs2136616311, rs2136544726, rs2136622208, rs2540175543, rs2540095473, rs2540113039, rs2540139953, rs2540181315, rs375448469, rs2540158867, rs2540183621, rs2540150852, rs2540111978, rs2540167332, rs2540121985, rs748459670, rs2540135688, rs2540169004, rs2540144358, rs886041843, rs886041713, rs2540105853, rs886042651, rs886043356, rs886043410, rs2540177679, rs2540147569, rs2136618395, rs2540183519, rs2540148810, rs121912866, rs2136528572, rs121912869, rs121912870, rs121912873, rs121912876, rs794727377, rs2136508504, rs2136577259, rs121912882, rs1057524696, rs121912884, rs121912885, rs121912893, rs1592232116, rs121912897, rs2540104351, rs1057524114, rs1085307608, rs1131691822, rs1555165494, rs1555166555, rs1555168965, rs1555164735, rs1555165204, rs1555166218, rs1555166295, rs1555166658, rs1025202963, rs1555168309, rs1246771678, rs1565679039, rs1592233968, rs1592196744, rs1592235241, rs1592202517, rs753342774, rs1592205758, rs1592206729, rs1269619781, rs1592196867, rs1592218346, rs1399676515, rs1939312423, rs1938797743, rs1938958532, rs1938789358, rs367806541, rs1939189846	RCV005622112 RCV002246366 RCV003493854 RCV001526714 RCV001543669 RCV001822886 RCV001564051 RCV001564047 RCV001564048 RCV001591924 RCV001730026 RCV001731124 RCV001787259 RCV001787272 RCV001787274 RCV001814855 RCV001814910 RCV002243492 RCV002246638 RCV004565180 RCV002471749 RCV002471716 RCV002249000 RCV002249001 RCV002249002 RCV002249003 RCV002249377 RCV002249379 RCV002249380 RCV002250986 RCV002273253 RCV002283666 RCV002286443 RCV002286619 RCV002290174 RCV002290202 RCV002290288 RCV002290398 RCV002291186 RCV002471635 RCV002471648 RCV002471691 RCV002471804 RCV000988819 RCV003151700 RCV003157997 RCV003157998 RCV005863080 RCV002248504 RCV003236625 RCV005869209 RCV000988818 RCV003380537 RCV003314404 RCV003315133 RCV003388641 RCV005254781 RCV003994720 RCV000018899 RCV000018902 RCV000018904 RCV002247358 RCV000018909 RCV000988828 RCV002247359 RCV000018916 RCV000018917 RCV004595885 RCV000018925 RCV000018926 RCV000144727 RCV000018938 RCV000018942 RCV002470714 RCV004566561 RCV001526694 RCV002286574 RCV001089571 RCV003985087 RCV000988825 RCV000623544 RCV000659406 RCV000659402 RCV000659399 RCV000659398 RCV000659394 RCV000659391 RCV000659389 RCV000659383 RCV000735218 RCV000761288 RCV000787022 RCV000850370 RCV000853283 RCV000988820 RCV000988822 RCV000988823 RCV000988826 RCV000995717 RCV005253675 RCV002291290 RCV003151262 RCV002290588 RCV005001999 RCV001263467 RCV001269479 RCV002294450 RCV003989668	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome, type I, nonsyndromic ocular	Likely pathogenic; Pathogenic	rs2136511549, rs2136587632, rs2136590405, rs2540149390, rs2540177721, rs2540148810, rs886043410, rs2540174495, rs121912872, rs121912884, rs121912885, rs2136637244, rs1592196064, rs121912896, rs121912897, rs121912898, rs1399676515	RCV001376371 RCV001533421 RCV005253994 RCV002466863 RCV002471956 RCV002472045 RCV004796151 RCV003989461 RCV000018908 RCV001807733 RCV000018927 RCV000018929 RCV000018943 RCV000018944 RCV000018945 RCV000018946 RCV005408641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 collagenopathy	Likely pathogenic; Pathogenic	rs2136555221, rs2136522964, rs1939173389, rs2136548994, rs2540122331, rs2540100894, rs1064796660, rs886039542, rs2540147368, rs121912870, rs2540174508, rs753342774, rs1938818395, rs367806541	RCV006249751 RCV003985103 RCV004594588 RCV002272538 RCV005401955 RCV002471810 RCV003985110 RCV002272197 RCV006257377 RCV003320353 RCV004595386 RCV006249697 RCV001788433 RCV005401818	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type II Collagenopathies	Likely pathogenic; Pathogenic	rs1938719104, rs1555168505	RCV003405202 RCV003403225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy with phalangeal epiphyseal dysplasia	Pathogenic	rs121912887	RCV000018930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cartilage collagen	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF THE CAPITAL FEMORAL EPIPHYSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE RESORPTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COL2A1-RELATED SPONDYLOEPIPHYSEAL DYSPLASIA	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLLAGENOPATHY, TYPE 2 ALPHA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aneurysm of ascending aorta	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSPLASIA OF THE HIP	—	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
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COXA PLANA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CZECH DYSPLASIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CZECH DYSPLASIA, METATARSAL TYPE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF EYE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSSPONDYLOENCHONDROMATOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL AVASCULAR NECROSIS OF FEMORAL HEAD	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary breast ovarian cancer syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ 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
Marfan syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mendelian syndromes with cleft lip/palate	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY ONSET OSTEOARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Orofacial cleft 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OROFACIAL CLEFTING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	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	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA STANESCU TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler Syndrome, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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
Achondrogenesis type 2	Achondrogenesis	BEFREE	10745044, 10797431, 1374906, 1429602, 15054848, 17994563, 20583175, 3195588, 7829510, 8175802, 8723098		★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	UNIPROT_DG	10745044, 10797431, 15054848, 17994563, 2572591, 7757081, 7757086, 7829510		★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	ORPHANET_DG	10797431		★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	GENOMICS_ENGLAND_DG	15316962, 20513134, 21922596, 2543071		★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	CTD_human_DG	7741714		★☆☆☆☆ Found in Text Mining only
Achondrogenesis type 2	Achondrogenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	2899976		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	3005580, 9258750	Associate	★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	24126910		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29848698		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	26588861, 30665389		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31122284		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32854783	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	28123344		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35791160	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	CTD_human_DG	17299831, 24144632, 26640276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	Pubtator	20131279	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	BEFREE	24664531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35955467	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16734683, 24664531		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	10403272, 21332586		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asteroid hyalosis	Asteroid hyalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	25521223	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35534923	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37107605	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1	Aseptic necrosis	ORPHANET_DG	15930420		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1	Aseptic necrosis	UNIPROT_DG	15930420, 21671384		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1	Aseptic necrosis	GENOMICS_ENGLAND_DG	21922596, 2543071		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1	Aseptic necrosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2	Avascular Necrosis Of Femoral Head	ORPHANET_DG	15930420		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29439531, 31337422		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30141352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	30141352, 30145513, 30206822		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	35617338	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	26377240, 8157027		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	12205109, 15643621, 8024616		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	12205109, 16155195	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	30568244		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	31389106		★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	31389106	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage Diseases	BEFREE	15522781, 7612049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage Diseases	CTD_human_DG	27028940		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage disease	Pubtator	27428952	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage Diseases	Cartilage disease	Pubtator	28237856, 34616553, 9258750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	39596655, 8317498	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	8317498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	8317498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical myelopathy	Cervical myelopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	25024164	Associate	★☆☆☆☆ Found in Text Mining only
Chondromalacia	Chondromalacia	CTD_human_DG	27028940		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	23770606, 25024164, 26345137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	CTD_human_DG	23770606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	Pubtator	23770606, 25024164, 30291346, 31604924, 32469486	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	40301759	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	24386886		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	20179744, 36830605	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	23022073		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24651526, 28263971, 29228570, 30064198, 30231985, 30858547, 30864851		★☆☆☆☆ Found in Text Mining only
Collagenopathy type 2 alpha 1	Collagenopathy	Pubtator	12205109, 16155195, 20204389, 26183434, 26626311, 26985960, 27888646, 33951325, 34380476, 35052477, 35296718, 40596606	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21517784, 24126910, 25057912, 25449198, 27086921, 28410235, 29547900		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24282287, 25820779, 27262172, 27433921		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20885960, 26517809, 26756615, 27080303, 27448759, 27528734, 27863401, 29197088, 29228570, 29662189, 29896300, 30231985, 30391747, 30806153, 30996297, 31473343, 31761324, 31825688		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26756615, 30391747, 31461471		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37806643	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	28559980		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	18288556, 21442341, 30740902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	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
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Opacity	Corneal opacity	Pubtator	30181686	Associate	★☆☆☆☆ Found in Text Mining only
Czech dysplasia metatarsal type	Czech dysplasia	Pubtator	32071555	Associate	★☆☆☆☆ Found in Text Mining only
Czech dysplasia, metatarsal type	Czech Dysplasia	BEFREE	17726487, 19764028, 26443184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Czech dysplasia, metatarsal type	Czech Dysplasia	ORPHANET_DG	17726487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Czech dysplasia, metatarsal type	Czech Dysplasia	UNIPROT_DG	18553548, 19764028, 7757086, 8244341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Czech dysplasia, metatarsal type	Czech Dysplasia	GENOMICS_ENGLAND_DG	21922596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Czech dysplasia, metatarsal type	Czech Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Czech dysplasia, metatarsal type	Czech Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10735581, 10902746, 11708863, 11824954, 12096843, 15082485, 15922184, 16755660, 17195216, 18288556, 18576389, 19019890, 19223283, 19333945, 19481076, 19756630, 20131279, 21088911, 21728837, 21854562, 22102413, 22527881, 22717203, 23319657, 23486780, 23965695, 25430712, 26162802, 27310669, 27428952, 27555113, 28237856, 28314754, 28728848, 28764769, 29286096, 29415892, 29753378, 29863238, 29928231, 30244259, 30280762, 30292414, 30316071, 30324848, 30535473, 30542421, 30563239, 30740902, 30854241, 30938133, 31042308, 31113964, 31809639, 7612049, 7726176, 7738948, 7866404, 8244341, 8257213, 8452585, 8877930, 9811048		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	16189708, 9061443		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	16877351, 18799084		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	22763110		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	24053646, 24126910, 26194191, 30064198, 30231985, 30447686, 30665389, 30858547, 30864851, 30907395, 31461471		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21442341, 37107605	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	18288556	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19901218	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30130742		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29928231		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	2732992, 8791509		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	2732992, 2902229	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	18541977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	BEFREE	10745044, 26377240, 27955642, 28109507		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Associate	★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	10729292	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10353778, 12848929, 12925722, 1971141, 20179744, 20513134, 22791362, 25604898, 26250472, 26345137, 26358419, 26626311, 9724608		★☆☆☆☆ Found in Text Mining only
Dysspondyloenchondromatosis	Dysspondyloenchondromatosis	ORPHANET_DG	22570642, 26250472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysspondyloenchondromatosis	Dysspondyloenchondromatosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysspondyloenchondromatosis	Dysspondyloenchondromatosis	BEFREE	24357493, 26250472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	11577371, 2992397		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome type 2	Ehlers-Danlos Syndrome	BEFREE	2992397		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	25024164		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, pretibial	Epidermolysis Bullosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25809783		★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	29329878		★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 2	Epiphyseal dysplasia	Pubtator	9258750	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal Dysplasia Multiple with Myopia and Conductive Deafness	Epiphyseal dysplasia	Pubtator	32071555	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	GENOMICS_ENGLAND_DG	20513134, 21922596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	ORPHANET_DG	9800905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	UNIPROT_DG	9800905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	2902229	Associate	★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy 1	Exudative vitreoretinopathy	Pubtator	23592912	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	25124518, 32478486, 35296718	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	18523590, 19430638	Associate	★☆☆☆☆ Found in Text Mining only
Familial avascular necrosis of femoral head	Avascular Necrosis Of Femoral Head	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Hypophosphatemic Rickets	Hypophosphatemic rickets	Pubtator	37278761	Associate	★☆☆☆☆ Found in Text Mining only
Femur Head Necrosis	Femur Head Necrosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30130436		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	11007540	Associate	★☆☆☆☆ 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
Growth Disorders	Growth disorder	Pubtator	35250876, 39953747	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	34182999, 35296718	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20131279, 30170566	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	34182999	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28059113	Associate	★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	30508070	Associate	★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	BEFREE	11450497, 11812423, 12939326, 14644728, 7748141, 8317498		★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	CTD_human_DG	11812423		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	25823796		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39596655	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33590889	Associate	★☆☆☆☆ Found in Text Mining only
Hypochondrogenesis	Hypochondrogenesis	BEFREE	10745044, 1374906, 1429602, 3195588, 8175802, 8723098		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypochondrogenesis	Hypochondrogenesis	ORPHANET_DG	10797431		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypochondrogenesis	Hypochondrogenesis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypochondrogenesis	Hypochondrogenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	39755652	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16877351	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23965235, 28623370, 37108698	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20933621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26924131, 27991836, 28387615, 31094848, 31135551		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	30130742	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35409356	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30130742		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	33181847	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	29419930		★☆☆☆☆ Found in Text Mining only
Jaw Abnormalities	Jaw Abnormalities	BEFREE	21295280		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	28059113		★☆☆☆☆ Found in Text Mining only
Kniest dysplasia	Kniest Dysplasia	BEFREE	10406661, 14644246, 15895462, 25592122, 25604898, 26345137, 28109507, 7700721, 7977371, 8863156, 8893763, 9269170, 9675039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	ORPHANET_DG	10406661, 15895462		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	CTD_human_DG	11297324		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	GENOMICS_ENGLAND_DG	18541977, 20513134, 21922596, 2543071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	CLINVAR_DG	23188137		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kniest dysplasia	Kniest Dysplasia	UNIPROT_DG	7874117, 8863156		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	17394019, 20204389, 21442341, 24949742		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	UNIPROT_DG	17394019		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	ORPHANET_DG	17394019, 18512791		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Legg-Calve-Perthes Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	GENOMICS_ENGLAND_DG	21922596		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leiomyoma	Leiomyoma	Pubtator	32372565	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	26875896	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	34737199	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	7806485		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	31640774		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	31640774		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	10678662		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21799775, 24126910, 24651526, 26194191, 26455770, 29439531, 30083271, 30359174, 30798535, 31092437, 31798539		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21517784, 24126910, 25057912, 25449198, 27086921, 28410235, 29547900		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	1969488		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marfan Syndrome	Marfan syndrome	Pubtator	35296718	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Marshall syndrome	Marshall Syndrome	BEFREE	17236192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaepiphyseal dwarfism	Megaepiphyseal Dwarfism	CTD_human_DG	16189708		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	16778180		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20933621		★☆☆☆☆ Found in Text Mining only
Mesenchymal Chondrosarcoma	Mesenchymal Chondrosarcoma	LHGDN	15731776		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	12673280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micromelia	Micromelia	BEFREE	25823796		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	Spondyloepiphyseal Dysplasia With Osteoarthritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	9028444		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28738883	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	22791362, 26985960		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10353778, 12848929, 12925722, 1971141, 20179744, 20513134, 22791362, 25604898, 26250472, 26345137, 26358419, 26626311, 9724608		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	8094597		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple epiphyseal dysplasia, Beighton type	Multiple Epiphyseal Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple Sclerosis	BEFREE	9028444		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	17653045		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	Pubtator	17653045, 19387081, 27390512, 30181686, 31736238, 32756486, 35567543, 37107605, 38073514, 38243264	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	BEFREE	19387081, 21993774		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Namaqualand Hip Dysplasia	UNIPROT_DG	1975693, 1985108, 7757086, 8507190		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Namaqualand Hip Dysplasia	ORPHANET_DG	1975693		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Namaqualand Hip Dysplasia	GENOMICS_ENGLAND_DG	21922596		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Namaqualand Hip Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Namaqualand hip dysplasia	Namaqualand Hip Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Necrosis	Necrosis	Pubtator	25124518	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24658599, 26194191, 27086921, 28618417, 29896300, 30231985, 30310258, 30498394, 30804114, 30888162, 31072353, 31122284, 31733286		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20131279	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	10902746, 12096843, 15082485, 19333945, 1975693, 1985108, 20204389, 21442341, 25430712, 25761416, 27555113, 28256567, 29863238, 30280762, 30563239, 30740902, 32510848, 37935325, 7726176, 9920012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	23965235	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	27428952, 31042308, 34440671, 35955467, 39342381	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	12096843, 18288556, 18512791, 20204389	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	10902746	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	17195216	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	12096843, 18512791, 20204389		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	LHGDN	18512791		★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	17683641, 21088911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	16189708, 9061443		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	12205109, 1429602, 1671807, 18272325, 1905723, 1975693, 23079993, 2339128, 25124518, 2572591, 26183434, 27183340, 2902229, 30740902, 33002832, 35052477, 37278761, 8317498, 8325895	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	17509551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	25823796, 26626311, 28738883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	8486375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	BEFREE	3997150		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	31121355		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	31075181		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	23266462, 23538334		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	BEFREE	16189708		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	CTD_human_DG	16189708		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	GENOMICS_ENGLAND_DG	21922596		★☆☆☆☆ Found in Text Mining only
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	27406592		★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	29621359		★☆☆☆☆ 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	BEFREE	9805126		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	25521223		★☆☆☆☆ Found in Text Mining only
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	BEFREE	25521223		★☆☆☆☆ Found in Text Mining only
Platyspondylic dysplasia, Torrance type	Platyspondylic Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	UNIPROT_DG	10745044, 14729840, 15643621		★☆☆☆☆ Found in Text Mining only
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	GENOMICS_ENGLAND_DG	15316962, 21922596, 2543071		★☆☆☆☆ Found in Text Mining only
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	BEFREE	15643621, 22711552, 26545783		★☆☆☆☆ Found in Text Mining only
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	ORPHANET_DG	15643621		★☆☆☆☆ Found in Text Mining only
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Platyspondylic Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	CTD_human_DG	17299831, 24144632, 26640276		★☆☆☆☆ Found in Text Mining only
Premature osteoarthritis	Premature osteoarthritis	BEFREE	21442341, 23928235		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	26183434		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20687218	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	1442879		★☆☆☆☆ Found in Text Mining only
Pseudoaphakia	Cataract	CTD_human_DG	8317498		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	10729292, 20179744, 30015854, 31908402, 32756486, 34182999, 35052368, 38073514, 8317498	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	BEFREE	14644246, 20179744, 22574936, 26709265, 27406592, 27955642, 30015854, 8317498		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	LHGDN	14644246		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	CTD_human_DG	8317498		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal lattice degeneration	Retinal Lattice Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL	PERSISTENT FETAL VASCULATURE	BEFREE	12939326		★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	CTD_human_DG	8317498		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23647439		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinoschisis	Retinoschisis	BEFREE	12968670		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	15671297, 27406592		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	12205109, 12939326, 35791160, 39596655	Associate	★☆☆☆☆ Found in Text Mining only
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	Rhegmatogenous retinal detachment	BEFREE	12939326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	Rhegmatogenous retinal detachment	ORPHANET_DG	15671297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	Rhegmatogenous retinal detachment	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16192646, 16329077, 18799084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	27028940, 29935983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28617559, 8508280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	34182999	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28383362, 30206822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schmorl`s nodes	Schmorl`s Nodes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	25436060, 33590889, 35250876	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	31337422	Stimulate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	15593085		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	16189708		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	18553548		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	16189708		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	12939326, 19387081, 20933621, 21993774		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	28252452		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	25823796, 26626311, 28738883		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	18309337		★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	12925722, 19764033, 23956136, 7550321		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal dysplasia congenita, Strudwick type	Spondyloepimetaphyseal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Shohat Type	Spondyloepimetaphyseal dysplasia	BEFREE	28263186		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	10678662, 11123024, 11333354, 12968670, 1353665, 1429602, 15895462, 1671807, 1905723, 23079993, 2339128, 2543071, 25967556, 28263186, 30932712, 7700721, 7738948, 7866404, 8244341, 8877930, 8893763		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia	Pubtator	10745044, 16155195, 1971141, 26030151, 26985960, 30608389, 31972903, 32071555, 32446218, 33590889, 34182999, 35052477, 36966641, 39953747, 7847372, 8325895, 8423604	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia congenita	Spondyloepiphyseal dysplasia congenita	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia Omani type	Spondyloepiphyseal dysplasia	Pubtator	32071555	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	BEFREE	8019561		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia with metatarsal shortening	Spondyloepiphyseal Dysplasia With Metatarsal Shortening	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	10678662, 10745044, 11123024, 11333354, 11746045, 12968670, 1353665, 1429602, 15895462, 16088915, 16155195, 1671807, 17920052, 1905723, 19072565, 1971141, 1978986, 21204228, 21924244, 22791362, 23079993, 2339128, 23932928, 24736929, 25604898, 25900302, 25967556, 26030151, 27059630, 30932712, 31755234, 7700721, 7705841, 7738948, 7847372, 7866404, 8244341, 8325895, 8423604, 8877930, 8893763		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	UNIPROT_DG	10678662, 11746045, 2339128, 2543071, 7757086, 8019561, 8325895, 8423604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	GENOMICS_ENGLAND_DG	18541977, 20513134, 21922596, 2543071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	ORPHANET_DG	26030151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	CLINVAR_DG	26380986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	CLINGEN_DG	1881905, 1946380, 26183434, 26420734, 8325895		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	GENOMICS_ENGLAND_DG	1946380		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	BEFREE	26183434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	ORPHANET_DG	26183434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	UNIPROT_DG	26183434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondyloepiphyseal dysplasia, Stanescu type	Spondyloepiphyseal dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	Spondyloepiphyseal dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia 'corner fracture' type	Spondylometaphyseal dysplasia	Pubtator	27888646, 28738883	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, Algerian type	Spondylometaphyseal dysplasia	ORPHANET_DG	23653587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia, Schmidt type	Spondylometaphyseal Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	ORPHANET_DG	17163530		★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, `corner fracture` type	Spondylometaphyseal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	CLINVAR_DG	11746045		★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	BEFREE	12884428, 21356074, 22495950, 23545312, 8723097		★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	GENOMICS_ENGLAND_DG	15316962, 21922596, 2543071		★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	ORPHANET_DG	15316962, 23545312		★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia-short ulna syndrome	Spondyloperipheral Dysplasia-Short Ulna Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30900087		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	10486316, 10706362, 10982970, 11007540, 11450497, 12204008, 12429250, 12511349, 12686304, 12939326, 1358786, 1444917, 15671297, 16155195, 1677770, 1683158, 17236192, 17437277, 17721977, 18276201, 18309337, 19430638, 1977683, 20513134, 21186996, 21777803, 22522174, 22574936, 2319589, 23647439, 24664531, 26709265, 27390512, 28283280, 2896625, 30015854, 30130436, 30541462, 7487609, 7748141, 7833911, 7981752, 8317498, 8406454, 8434604, 8737653, 8872475, 9805127		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	10486316, 10729292, 11007540, 12939326, 16155195, 1677770, 19430638, 20179744, 22522174, 23592912, 23935403, 2573273, 26626311, 26709265, 27390512, 28095098, 30015854, 30181686, 30541462, 30650974, 31736238, 32478486, 32558342, 32756486, 33647874, 33678343, 33951325, 34405586, 34680973, 35052477, 35064646, 35791160, 37107605, 38073514, 38243264, 39596655, 40384762, 8317498, 8863161	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome type 1	Stickler Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome type 2	Stickler syndrome	Pubtator	30650974	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	10486316, 10706362, 10729292, 10982970, 11007540, 11450497, 12204008, 12429250, 12511349, 12686304, 12939326, 1358786, 1444917, 15671297, 16152640, 16155195, 16327798, 16752401, 1677770, 1683158, 17236192, 17437277, 17721977, 18177466, 18276201, 18309337, 18309338, 19430638, 1977683, 20179744, 20513134, 21186996, 21777803, 22522174, 22574936, 23592912, 23647439, 23935403, 24664531, 2573273, 25809783, 26709265, 27193475, 27390512, 27406592, 28283280, 2896625, 30015854, 30130436, 30541462, 31736238, 7487609, 7748141, 7833911, 7981752, 8317498, 8406454, 8737653, 9805127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	UNIPROT_DG	11007540, 20513134, 7977371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	GENOMICS_ENGLAND_DG	1677770, 18541977, 20513134, 21922596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 3	Stickler syndrome	ORPHANET_DG	16189708, 21438135		★☆☆☆☆ Found in Text Mining only
Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome	UNIPROT_DG	11007540, 15671297, 16752401, 17721977, 8317498		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome	GENOMICS_ENGLAND_DG	18541977, 21922596, 2543071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome	BEFREE	30055036		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	BEFREE	27193475		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33582701	Associate	★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	BEFREE	12925722, 26250472, 27888646		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	UNIPROT_DG	16088915, 7550321		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	GENOMICS_ENGLAND_DG	20513134, 21922596, 2543071		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	ORPHANET_DG	7550321		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	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
Synovial Hypertrophy	Synovial Hypertrophy	CTD_human_DG	25194622		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	LHGDN	16192646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synovitis	Synovitis	CTD_human_DG	25194622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	8317498		★☆☆☆☆ Found in Text Mining only
Trichorhinophalangeal Syndrome Type I	Trichorhinophalangeal syndrome	Pubtator	2902229	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30015944, 30359174		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12673280, 15362574, 20179744, 20933621		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	8486375		★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	BEFREE	14644728, 23592912		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	Vitreoretinopathy	Pubtator	12205109	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	GENOMICS_ENGLAND_DG	18541977, 21922596		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)