COL11A1 (collagen type XI alpha 1 chain)

Gene

• Entrez ID: 1301
• Gene name: Collagen type XI alpha 1 chain
• Gene symbol: COL11A1
• Synonyms (NCBI Gene): CO11A1, COLL6, DFNA37, STL2
• Chromosome: 1
• Chromosome location: 1p21.1
• Summary: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated wit

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1676486	A>G,T	Benign, risk-factor	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs55821405	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs78046647	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs121912943	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912944	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs140250347	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141817156	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs141978499	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant, missense variant
rs143651470	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs147247206	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs183130583	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs387906611	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397514455	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398122828	C>T	Pathogenic	Splice donor variant
rs544663655	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs587782990	A>C,G	Pathogenic	Genic upstream transcript variant, intron variant
rs727503881	C>T	Pathogenic	Splice acceptor variant
rs730882190	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs747787770	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs754222130	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs755987732	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs866783525	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs886039743	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886042653	C>A	Pathogenic	Splice donor variant
rs886042660	CTTGTCACCACC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs886044242	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886044244	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1057517989	T>-	Pathogenic	Splice acceptor variant
rs1057518666	C>T	Likely-pathogenic, pathogenic	Intron variant
rs1057524237	C>T	Likely-pathogenic, pathogenic	Intron variant
rs1064797115	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1343199316	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1553193910	C>A	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1553193913	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1553196233	A>G	Likely-pathogenic	Splice donor variant
rs1553196515	T>A	Likely-pathogenic	Intron variant
rs1553200431	CCTCACCAGATGGGCCAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553200868	C>T	Pathogenic	Splice donor variant
rs1553223152	C>T	Likely-pathogenic	Splice donor variant
rs1553227204	->TCT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe insertion
rs1553234339	C>T	Likely-pathogenic	Splice donor variant
rs1557812993	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1557847904	CA>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1557877041	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557891760	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557932876	TGAGGACCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1570630126	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1570712875	A>C	Likely-pathogenic	Splice donor variant
rs1570712889	C>T	Pathogenic	Splice donor variant
rs1570740272	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1570877567	TCATACTTACA>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1571079651	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1571238944	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017414	hsa-miR-335-5p	Microarray	18185580
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2436284	hsa-miR-4496	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2506426	hsa-miR-1193	CLIP-seq
MIRT2506427	hsa-miR-1208	CLIP-seq
MIRT2506428	hsa-miR-1255a	CLIP-seq
MIRT2506429	hsa-miR-1255b	CLIP-seq
MIRT2506430	hsa-miR-1273e	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2506431	hsa-miR-132	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2506432	hsa-miR-144	CLIP-seq
MIRT2506433	hsa-miR-1914	CLIP-seq
MIRT2506434	hsa-miR-212	CLIP-seq
MIRT2506435	hsa-miR-219-1-3p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2506436	hsa-miR-300	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2506437	hsa-miR-3134	CLIP-seq
MIRT2506438	hsa-miR-329	CLIP-seq
MIRT2506439	hsa-miR-339-5p	CLIP-seq
MIRT2506440	hsa-miR-362-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2506441	hsa-miR-3690	CLIP-seq
MIRT2506442	hsa-miR-381	CLIP-seq
MIRT2506443	hsa-miR-3941	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2506444	hsa-miR-4254	CLIP-seq
MIRT2506445	hsa-miR-4428	CLIP-seq
MIRT2506446	hsa-miR-4446-5p	CLIP-seq
MIRT2506447	hsa-miR-4477a	CLIP-seq
MIRT2436284	hsa-miR-4496	CLIP-seq
MIRT2506448	hsa-miR-452	CLIP-seq
MIRT2506449	hsa-miR-466	CLIP-seq
MIRT2506450	hsa-miR-4666-3p	CLIP-seq
MIRT2506451	hsa-miR-4672	CLIP-seq
MIRT2506452	hsa-miR-4676-3p	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2506453	hsa-miR-4731-3p	CLIP-seq
MIRT2506454	hsa-miR-4755-5p	CLIP-seq
MIRT2506455	hsa-miR-4793-5p	CLIP-seq
MIRT2506456	hsa-miR-4801	CLIP-seq
MIRT2506457	hsa-miR-580	CLIP-seq
MIRT2506458	hsa-miR-587	CLIP-seq
MIRT2506459	hsa-miR-603	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2506460	hsa-miR-670	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2506426	hsa-miR-1193	CLIP-seq
MIRT2506427	hsa-miR-1208	CLIP-seq
MIRT2506428	hsa-miR-1255a	CLIP-seq
MIRT2506429	hsa-miR-1255b	CLIP-seq
MIRT2506430	hsa-miR-1273e	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2506431	hsa-miR-132	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2506432	hsa-miR-144	CLIP-seq
MIRT2506433	hsa-miR-1914	CLIP-seq
MIRT2506434	hsa-miR-212	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2506436	hsa-miR-300	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2506437	hsa-miR-3134	CLIP-seq
MIRT2506438	hsa-miR-329	CLIP-seq
MIRT2506439	hsa-miR-339-5p	CLIP-seq
MIRT2506440	hsa-miR-362-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2506441	hsa-miR-3690	CLIP-seq
MIRT2506442	hsa-miR-381	CLIP-seq
MIRT2506443	hsa-miR-3941	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2506444	hsa-miR-4254	CLIP-seq
MIRT2678385	hsa-miR-4320	CLIP-seq
MIRT2506446	hsa-miR-4446-5p	CLIP-seq
MIRT2506447	hsa-miR-4477a	CLIP-seq
MIRT2506448	hsa-miR-452	CLIP-seq
MIRT2506449	hsa-miR-466	CLIP-seq
MIRT2506450	hsa-miR-4666-3p	CLIP-seq
MIRT2506451	hsa-miR-4672	CLIP-seq
MIRT2506452	hsa-miR-4676-3p	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2506453	hsa-miR-4731-3p	CLIP-seq
MIRT2506454	hsa-miR-4755-5p	CLIP-seq
MIRT2506455	hsa-miR-4793-5p	CLIP-seq
MIRT2506456	hsa-miR-4801	CLIP-seq
MIRT2506457	hsa-miR-580	CLIP-seq
MIRT2506458	hsa-miR-587	CLIP-seq
MIRT2506459	hsa-miR-603	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2506460	hsa-miR-670	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPZ	Repression	12805369

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001502	Process	Cartilage condensation	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	10486316
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	IDA	24113490
GO:0005592	Component	Collagen type XI trimer	IDA	3182841
GO:0005592	Component	Collagen type XI trimer	NAS	10486316, 17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0007601	Process	Visual perception	IMP	8872475, 10573014
GO:0007605	Process	Sensory perception of sound	IMP	10573014
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10486316
GO:0031012	Component	Extracellular matrix	HDA	28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0035989	Process	Tendon development	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050840	Function	Extracellular matrix binding	NAS	3182841
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IMP	10889003
GO:0051216	Process	Cartilage development	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA

Other IDs

• MIM: 120280
• HGNC: 2186
• e!Ensembl: ENSG00000060718

Protein

• UniProt ID: P12107
• Protein name: Collagen alpha-1(XI) chain
• Protein function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02210	Laminin_G_2	112 → 228	Laminin G domain	Domain
  PF01391	Collagen	435 → 493	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	527 → 589	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	583 → 643	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	615 → 680	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	634 → 700	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1429 → 1498	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1483 → 1545	Collagen triple helix repeat (20 copies)	Repeat
  PF01410	COLFI	1575 → 1804	Fibrillar collagen C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.
• Sequence:

  MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGF
  CTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYN
  EHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIV
  DCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYS
  PDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
  NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLY
  ENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG
  AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLP
  GADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRP
  GPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
  GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTP
  GAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKP
  GLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEK
  GEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP
  GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
  GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKT
  GPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKD
  GPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQ
  GPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSK
  GDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
  GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA
  GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
  GEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAK
  GEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLP
  GLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
  GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEG
  MQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDG
  EYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL
  LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDE
  EMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
  PVCFLG

• Sequence length: 1806

Pathways

KEGG:

Cytoskeleton in muscle cells
Protein digestion and absorption

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autism	Likely pathogenic	rs2101678782	RCV002226908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL11A1-related disorder	Likely pathogenic; Pathogenic	rs766849561, rs1663311706, rs2101595036, rs2101282041, rs2525063877, rs2524263343, rs2524694574, rs2524264000, rs1662763051, rs2524792669, rs2525015022, rs2524255933, rs2525370664, rs398122828, rs1553193910, rs776004614	RCV004738382 RCV004528511 RCV004533996 RCV004538912 RCV004545856 RCV004527923 RCV004527943 RCV004536771 RCV004537095 RCV004545697 RCV004539451 RCV004532019 RCV004736693 RCV003313929 RCV004737861 RCV004556819	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs1553196233	RCV005898587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis	Pathogenic	rs730882190, rs387906611, rs1557812993	RCV001804153 RCV001804155 RCV001804156	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis 1	Likely pathogenic; Pathogenic	rs766849561, rs1469787406, rs763199410, rs372419698, rs2101800665, rs755987732, rs1570877567, rs1667208458	RCV002503269 RCV001334963 RCV001535915 RCV001825009 RCV005040348 RCV005036087 RCV000986391 RCV001249607	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic	rs1064797115, rs1553196233	RCV001375056 RCV001375057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal dominant 37	Likely pathogenic; Pathogenic	rs766849561, rs2101794024, rs2100852418, rs763199410, rs372419698, rs2101800665, rs886042653, rs1570781670, rs1064797115, rs1553196233, rs1553193910, rs755987732, rs747787770	RCV002503269 RCV001526390 RCV001806225 RCV001535915 RCV001825009 RCV005040348 RCV003136272 RCV002287209 RCV001449577 RCV001449578 RCV001799515 RCV005036087 RCV000824676	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intervertebral disc disorder	Likely pathogenic; Pathogenic	rs766849561, rs763199410, rs2101800665, rs755987732	RCV002503269 RCV001535915 RCV005040348 RCV005036087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marshall syndrome	Likely pathogenic; Pathogenic	rs766849561, rs1469787406, rs2100852418, rs763199410, rs372419698, rs2101800665, rs2101038943, rs2525109250, rs2526190236, rs2525370664, rs398122828, rs1553193910, rs755987732, rs1667208458, rs1663313424	RCV002503269 RCV002260151 RCV001806225 RCV001535915 RCV001825009 RCV005040348 RCV000018672 RCV004787086 RCV004555447 RCV004556009 RCV000032995 RCV000624108 RCV005036087 RCV001249607 RCV001253407 RCV001293722	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall/Stickler syndrome	Pathogenic	rs121912944	RCV000018671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2101678782	RCV002226908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886044244	RCV001778881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
sporadic abdominal aortic aneurysm	Pathogenic	rs587782990	RCV000144033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Pathogenic	rs2101869722, rs1057517989	RCV006281040 RCV001174947	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome type 2	Likely pathogenic; Pathogenic	rs1665610030, rs766849561, rs1469787406, rs2100852418, rs763199410, rs2101653580, rs372419698, rs2101074868, rs2101800665, rs2101595036, rs2101406339, rs2525581300, rs2524688567, rs2524484819, rs886044244, rs2524540006, rs121912943, rs2525109250, rs2525370664, rs1057517989, rs398122828, rs1553193910, rs1553223152, rs866783525, rs1557847904, rs755987732, rs1557877041, rs1557932876, rs1667208458	RCV001330656 RCV002503269 RCV005416124 RCV001806225 RCV001535915 RCV001542538 RCV001825009 RCV001619774 RCV005040348 RCV002250987 RCV002272626 RCV003989809 RCV003330334 RCV003315111 RCV004767219 RCV003482200 RCV000018669 RCV003988754 RCV004556009 RCV001542539 RCV002468558 RCV001799515 RCV004767434 RCV000679954 RCV000760162 RCV005036087 RCV000761265 RCV000761264 RCV001249607	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2101066494	RCV005931331	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive Stickler syndrome	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHEK2-related cancer predisposition	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 37	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERVERTEBRAL DISC DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERVERTEBRAL DISC DISPLACEMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERVERTEBRAL DISK DISPLACEMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lumbar disk herniation, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, 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
Osteogenesis imperfecta type III	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler Syndrome, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE 2	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia 3	Achromatopsia	GENOMICS_ENGLAND_DG	8872475		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12386823, 25417197, 26504042		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	25417197		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	26504042		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11707154		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	11707154		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11707154		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	11707154		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	11707154		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31365516		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	31538843	Associate	★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	CTD_human_DG	22922875, 27064256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	23847314, 23920366, 24474268, 24854855, 25732101, 26497787, 26854036, 27064256, 30399154, 30809385, 31377279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive Stickler syndrome	Stickler Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Bone Diseases Metabolic	Bone disease	Pubtator	29266176	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26466668		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24231953, 26466668, 27857161, 30236106, 31292488, 32233587, 34378164, 36389832, 37893423	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	30568244		★☆☆☆☆ Found in Text Mining only
Calcification of falx cerebri	Calcification of falx cerebri	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35327583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11707154		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30236106, 31175327	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30610797		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24178762, 27526849, 37386587	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35327583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32434476, 34504628	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23934190, 24218511, 27526849, 28815582, 29769618		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22718308		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	27090000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	35736209	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	20416094	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30182733		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Collagenopathy type 2 alpha 1	Collagenopathy	Pubtator	33951325	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31545476		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25417197, 28714374, 29393333, 33428592, 35669376	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11375892, 11707154		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11707154, 19337631, 25417197, 25755742, 30746900, 35149954	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21047417, 31545476	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	35149954	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31814889		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	30181686	Associate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Cutis verticis gyrata	Cutis Verticis Gyrata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30245514	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23497244, 24757145, 27356888, 29882636, 30374069		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	37720213	Associate	★☆☆☆☆ 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	19638309		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	17236192, 19449424, 21035103, 21668896, 25240749, 9529347		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28393072	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28393072, 29333916	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	32558342	Associate	★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fibrochondrogenesis	Fibrochondrogenesis	BEFREE	21035103, 21668896, 23922384		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis	Fibrochondrogenesis	ORPHANET_DG	21035103		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis	Fibrochondrogenesis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis	Fibrochondrogenesis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrochondrogenesis	Fibrochondrogenesis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROCHONDROGENESIS 1	Fibrochondrogenesis	UNIPROT_DG	21035103		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBROCHONDROGENESIS 1	Fibrochondrogenesis	GENOMICS_ENGLAND_DG	8872475		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FIBROCHONDROGENESIS 1	Fibrochondrogenesis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	22922875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	23847314, 24854855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	23847314	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	31389567	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	23505305, 23847314, 27824919, 30399154, 31389567	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19145252	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22922875		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	29891935		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	19145252		★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	39684270	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21035103, 23922384, 32558342, 32578940, 33605226, 34440452, 34753855	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	33605226	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	26448946	Associate	★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	BEFREE	12511349, 14644728		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	17999364	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	17999364, 23497244, 28583914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	24636772		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Intervertebral Disc Disorder	GENOMICS_ENGLAND_DG	8872475		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Intervertebral Disc Disorder	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	28583914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disk Displacement	Intervertebral Disk Displacement	CTD_human_DG	17999364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	29773097		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	28944648		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	28944648		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25514196, 30227835, 33148075	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29333916	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31713298, 36975413	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26466668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30610797		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23934190, 24218511, 28815582, 29769618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24194920, 30410422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28004111		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11375892, 26504042, 27373316, 30800594, 31175327		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	24231953		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31545476		★☆☆☆☆ Found in Text Mining only
Marshall syndrome	Marshall Syndrome	BEFREE	10486316, 25073711, 9529347		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall syndrome	Pubtator	10486316, 23621912, 30245514, 9188673, 9529347	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall Syndrome	GENOMICS_ENGLAND_DG	17236192, 8872475		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall Syndrome	CTD_human_DG	9529347		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall Syndrome	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marshall syndrome	Marshall Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	17236192, 19449424, 21035103, 21668896, 25240749, 9529347		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21035103, 21527992, 30181686, 38243264	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	29781737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	20083228, 23934190, 24231953, 26504042, 29333916, 30610797, 31175327		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17016581, 24231953, 27373316, 30610797		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22718308, 31175327		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	30245514		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23497244, 27356888, 31053729, 39953483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	24757145, 27936936, 29882636, 30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	CTD_human_DG	30374069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	19638309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	25091507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	29067460		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29050494	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	23934190, 24218511, 28815582, 29769618		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24804215, 26087191, 30448260, 32312965, 37386587	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24194920, 26504042, 30410422		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32272917, 35327583, 36311789, 36415513	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	26504042		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	24194920, 26504042		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	27609069	Associate	★☆☆☆☆ 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
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	27609069		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	27609069		★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	BEFREE	31833174		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	29266176		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	23847314, 23920366, 24474268, 24854855, 25732101, 26497787, 26854036, 27064256, 30399154, 30809385, 31377279		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	GWASCAT_DG	27064256		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	19296131	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31814889		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 45	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	8872475		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	35791160	Associate	★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	34378164	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	28583914	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31833174		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21527992, 29781737		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	25091507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33761685	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12386823, 24231953		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28393072, 29333916, 31598423		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24231953, 34999279, 36221427	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24231953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	30156925		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	10573014, 11450497, 15671297, 16752401, 17236192, 17318849, 18309337, 20513134, 23922384, 25073711, 27390512, 28315471, 9529347, 9805127		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	10486316, 22522174, 23621912, 23922384, 30181686, 32558342, 32578940, 32756486, 33348901, 33570243, 34405586, 34680973, 35791160, 38243264, 9529347	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 2	Stickler syndrome	Pubtator	23621912, 23922384, 32578940, 33348901	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome type 2	Stickler Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stickler syndrome, type 1	Stickler syndrome	BEFREE	10573014, 11450497, 15671297, 16752401, 17236192, 17318849, 18309337, 20513134, 23922384, 25073711, 27193475, 27390512, 28315471, 9529347, 9805127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	CLINVAR_DG	10486316, 10725403, 11668615, 20513134, 27081569		★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	UNIPROT_DG	10486316, 20513134, 8872475		★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	GENOMICS_ENGLAND_DG	17236192, 8872475		★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	BEFREE	23621912, 23922384, 25073711, 27193475, 28971234, 31833174, 8872475, 9091360		★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28004111		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19306436, 30948703, 33582701	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30572540, 32065787	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31713298	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	12673280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30723390	Associate	★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	19638309		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only