BCOR (BCL6 corepressor)

Gene

• Entrez ID: 54880
• Gene name: BCL6 corepressor
• Gene symbol: BCOR
• Synonyms (NCBI Gene): ANOP2, MAA2, MCOPS2
• Chromosome: X
• Chromosome location: Xp11.4
• Summary: The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ do

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434618	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121434619	G>A	Pathogenic	Coding sequence variant, stop gained
rs138137552	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142595337	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142686469	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs143119333	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144722432	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs147497014	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs151177114	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs368780561	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369432845	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs398124313	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503826	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs730880013	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880034	TGGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs748074364	->G	Pathogenic	Frameshift variant, coding sequence variant
rs753256966	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs753531268	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs753786462	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs775994643	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs780712297	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs797044647	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863224850	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs864309680	TCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309702	AACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041725	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886042842	CT>-	Other, pathogenic	Frameshift variant, coding sequence variant
rs1131691389	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555913327	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555913337	TAGAAGTCCCAAGTGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555915744	GTCTCAGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555915763	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555915785	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555915852	->ATCA	Pathogenic	Stop gained, coding sequence variant
rs1555915854	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555918014	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555918056	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555919695	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555919843	TTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555919960	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569146193	C>A	Pathogenic	Splice acceptor variant
rs1569153948	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602124517	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602130188	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602130230	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602131169	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602131405	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1602147278	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602148660	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016675	hsa-miR-425-5p	Sequencing	20371350
MIRT024747	hsa-miR-215-5p	Microarray	19074876
MIRT026271	hsa-miR-192-5p	Microarray	19074876
MIRT052633	hsa-let-7a-5p	CLASH	23622248
MIRT052633	hsa-let-7a-5p	CLASH	23622248
MIRT052180	hsa-let-7b-5p	CLASH	23622248
MIRT051754	hsa-let-7c-5p	CLASH	23622248
MIRT051754	hsa-let-7c-5p	CLASH	23622248
MIRT051395	hsa-let-7f-5p	CLASH	23622248
MIRT045914	hsa-miR-125b-5p	CLASH	23622248
MIRT045797	hsa-miR-191-5p	CLASH	23622248
MIRT045797	hsa-miR-191-5p	CLASH	23622248
MIRT044816	hsa-miR-320a	CLASH	23622248
MIRT043816	hsa-miR-328-3p	CLASH	23622248
MIRT042721	hsa-miR-346	CLASH	23622248
MIRT040487	hsa-miR-598-3p	CLASH	23622248
MIRT039646	hsa-miR-615-3p	CLASH	23622248
MIRT039646	hsa-miR-615-3p	CLASH	23622248
MIRT568287	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT568286	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT109882	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT568285	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT259622	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT568284	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT568283	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT568282	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT568281	hsa-miR-4753-3p	PAR-CLIP	20371350
MIRT568280	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT568279	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT568287	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT568286	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT109882	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT568285	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT259622	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT568284	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT568283	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT568282	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT568281	hsa-miR-4753-3p	PAR-CLIP	20371350
MIRT568280	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT568279	hsa-miR-335-3p	PAR-CLIP	20371350
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT820217	hsa-miR-3123	CLIP-seq
MIRT820218	hsa-miR-3714	CLIP-seq
MIRT820219	hsa-miR-3919	CLIP-seq
MIRT820220	hsa-miR-4699-3p	CLIP-seq
MIRT820221	hsa-miR-520d-5p	CLIP-seq
MIRT820222	hsa-miR-524-5p	CLIP-seq
MIRT820223	hsa-miR-548an	CLIP-seq
MIRT820224	hsa-miR-607	CLIP-seq
MIRT820225	hsa-miR-27a	CLIP-seq
MIRT820226	hsa-miR-27b	CLIP-seq
MIRT820227	hsa-miR-3647-3p	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820229	hsa-miR-4282	CLIP-seq
MIRT820230	hsa-miR-4803	CLIP-seq
MIRT820231	hsa-miR-513a-5p	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820224	hsa-miR-607	CLIP-seq
MIRT820233	hsa-miR-651	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT820235	hsa-miR-1264	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820227	hsa-miR-3647-3p	CLIP-seq
MIRT820239	hsa-miR-371-5p	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820240	hsa-miR-3973	CLIP-seq
MIRT820241	hsa-miR-425	CLIP-seq
MIRT820229	hsa-miR-4282	CLIP-seq
MIRT820242	hsa-miR-4297	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820244	hsa-miR-4469	CLIP-seq
MIRT820245	hsa-miR-4778-3p	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820247	hsa-miR-4802-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820250	hsa-miR-515-3p	CLIP-seq
MIRT820251	hsa-miR-519e	CLIP-seq
MIRT820252	hsa-miR-520g	CLIP-seq
MIRT820253	hsa-miR-520h	CLIP-seq
MIRT820254	hsa-miR-541	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820257	hsa-miR-654-5p	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT1942395	hsa-miR-1179	CLIP-seq
MIRT1942396	hsa-miR-1305	CLIP-seq
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT1942397	hsa-miR-224	CLIP-seq
MIRT1942398	hsa-miR-297	CLIP-seq
MIRT1942399	hsa-miR-3149	CLIP-seq
MIRT1942400	hsa-miR-323b-3p	CLIP-seq
MIRT1942401	hsa-miR-3911	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT820240	hsa-miR-3973	CLIP-seq
MIRT1942402	hsa-miR-5095	CLIP-seq
MIRT820252	hsa-miR-520g	CLIP-seq
MIRT820253	hsa-miR-520h	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT1942403	hsa-miR-633	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT2181102	hsa-miR-1237	CLIP-seq
MIRT2181103	hsa-miR-1248	CLIP-seq
MIRT1942396	hsa-miR-1305	CLIP-seq
MIRT820216	hsa-miR-139-5p	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT2181104	hsa-miR-2054	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT2181105	hsa-miR-345	CLIP-seq
MIRT2181106	hsa-miR-380	CLIP-seq
MIRT820228	hsa-miR-3924	CLIP-seq
MIRT2181107	hsa-miR-4256	CLIP-seq
MIRT2181108	hsa-miR-4263	CLIP-seq
MIRT2181109	hsa-miR-4267	CLIP-seq
MIRT2181110	hsa-miR-4277	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT2181111	hsa-miR-4495	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820247	hsa-miR-4802-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820254	hsa-miR-541	CLIP-seq
MIRT2181112	hsa-miR-576-5p	CLIP-seq
MIRT820232	hsa-miR-590-3p	CLIP-seq
MIRT820255	hsa-miR-603	CLIP-seq
MIRT1942403	hsa-miR-633	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820257	hsa-miR-654-5p	CLIP-seq
MIRT820234	hsa-miR-656	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq
MIRT820236	hsa-miR-141	CLIP-seq
MIRT820237	hsa-miR-200a	CLIP-seq
MIRT820238	hsa-miR-3159	CLIP-seq
MIRT820243	hsa-miR-4457	CLIP-seq
MIRT820246	hsa-miR-4789-3p	CLIP-seq
MIRT820248	hsa-miR-501-3p	CLIP-seq
MIRT820249	hsa-miR-502-3p	CLIP-seq
MIRT820256	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19578371
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	19578371
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	10898795
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	15878880
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	16943429
GO:0005515	Function	Protein binding	IPI	16713569, 16943429, 23260655, 23523425, 24981860, 25416956, 26496610, 26687479, 27505670, 27705803, 33961781, 35271311, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10898795, 25331958
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	16943429
GO:0007507	Process	Heart development	IMP	17517692
GO:0030502	Process	Negative regulation of bone mineralization	IMP	19578371
GO:0031072	Function	Heat shock protein binding	IDA	16943429
GO:0042476	Process	Odontogenesis	IMP	17517692
GO:0042826	Function	Histone deacetylase binding	IPI	10898795
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10898795
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	15878880
GO:0060021	Process	Roof of mouth development	IMP	17517692
GO:0065001	Process	Specification of axis polarity	IMP	17517692
GO:0070171	Process	Negative regulation of tooth mineralization	IMP	19578371
GO:0140261	Component	BCOR complex	IDA	16943429
GO:0140297	Function	DNA-binding transcription factor binding	IPI	10898795

Other IDs

• MIM: 300485
• HGNC: 20893
• e!Ensembl: ENSG00000183337

Protein

• UniProt ID: Q6W2J9
• Protein name: BCL-6 corepressor (BCoR)
• Protein function: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase ac
• PDB: 2N1L, 3BIM, 4HPL, 6B7G, 8HCU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15808	BCOR	1202 → 1414	BCL-6 co-repressor, non-ankyrin-repeat region	Family
  PF12796	Ank_2	1467 → 1560	Ankyrin repeats (3 copies)	Repeat
  PF16553	PUFD	1634 → 1747	BCORL-PCGF1-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10898795}.
• Sequence:

  MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDAST
  AHRIDGLAALSMDRTGLIREGLRVPGNIVYSSLCGLGSEKGREAATSTLGGLGFSSERNP
  EMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
  INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTN
  GERFLYLPPPHYVGPHIPSSLASPMRLSTPSASPAIPPLVHCADKSLPWKMGVSPGNPVD
  SHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
  YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKD
  GSSPPLLEKQTVTKDVTDKPLDLSSKVVDVDASKADHMKKMAPTVLVHSRAGSGLVLSGS
  EIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
  SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQ
  PPATPAKHSSSTSSKGAKASNPEPSFKANENGLPPSSIFLSPNEAFRSPPIPYPRSYLPY
  PAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
  GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVP
  TDKNLKPNPNWNQGKTVVKSDKLVYVDLLREEPDAKTDTNVSKPSFAAESVGQSAEPPKP
  SVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
  LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPS
  KLAKRIANSAGYVGDRFKCVTTELYADSSQLSREQRALQMEGLQEDSILCLPAAYCERAM
  MRFSELEMKEREGGHPATKDSEMCKFSPADWERLKGNQDKKPKSVTLEEAIAEQNESERC
  EYSVGNKHRDPFEAPEDKDLPVEKYFVERQPVSEPPADQVASDMPHSPTLRVDRKRKVSG
  DSSHTETTAEEVPEDPLLKAKRRRVSKDDWPEREMTNSSSNHLEDPHYSELTNLKVCIEL
  TGLHPKKQRHLLHLRERWEQQVSAADGKPGRQSRKEVTQATQPEAIPQGTNITEEKPGRK
  RAEAKGNRSWSEESLKPSDNEQGLPVFSGSPPMKSLSSTSAGGKKQAQPSCAPASRPPAK
  QQKIKENQKTDVLCADEEEDCQAASLLQKYTDNSEKPSGKRLCKTKHLIPQESRRGLPLT
  GEYYVENADGKVTVRRFRKRPEPSSDYDLSPAKQEPKPFDRLQQLLPASQSTQLPCSSSP
  QETTQSRPMPPEARRLIVNKNAGETLLQRAARLGYEEVVLYCLENKICDVNHRDNAGYCA
  LHEACARGWLNIVRHLLEYGADVNCSAQDGTRPLHDAVENDHLEIVRLLLSYGADPTLAT
  YSGRTIMKMTHSELMEKFLTDYLNDLQGRNDDDASGTWDFYGSSVCEPDDESGYDVLANP
  PGPEDQDDDDDAYSDVFEFEFSETPLLPCYNIQVSVAQGPRNWLLLSDVLKKLKMSSRIF
  RCNFPNVEIVTIAEAEFYRQVSASLLFSCSKDLEAFNPESKELLDLVEFTNEIQTLLGSS
  VEWLHPSDLASDNYW

• Sequence length: 1755

Pathways

KEGG:

Polycomb repressive complex

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
Acute myeloid leukemia	Pathogenic	rs2146872060	RCV002227834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BCOR-related disorder	Likely pathogenic; Pathogenic	rs2146890750, rs2519289569, rs2520105884, rs1555915763, rs1935034055	RCV001733821 RCV004554092 RCV004548932 RCV004553196 RCV001270855	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Pathogenic	rs864309680, rs864309702	RCV000203367 RCV000203315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioblastoma	Pathogenic	rs886042842	RCV000505675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculofaciocardiodental syndrome	Pathogenic; Likely pathogenic	rs766620661, rs2147176806, rs2146922561, rs2147172268, rs2147215369, rs2147206769, rs2147241441, rs2147004911, rs2147077488, rs730880034, rs1367522452, rs2519848724, rs2519849358, rs2520112715, rs863224850, rs2520071979, rs2520039276, rs2519302803, rs2519235915, rs2519607953, rs121434618, rs1569146193, rs121434619, rs1602124517, rs1602131169, rs730880013, rs748074364, rs2519702377, rs2519855439, rs2519659019, rs2519910923, rs2147241525, rs2519298510, rs2519588473, rs2519847860, rs2520083089, rs2519520021, rs2519845902, rs2147036064, rs2519951682, rs2519930695, rs1555915854, rs1555918014, rs1555915785, rs1555915763, rs1555915744, rs1602130188, rs1602130230, rs1602131405, rs1602147278, rs1602148660, rs1394942244, rs1935668973, rs1935688233, rs1934541230, rs199676230, rs1935081157, rs1935034055	RCV001386734 RCV001382052 RCV001542514 RCV001730135 RCV001781142 RCV001781145 RCV002222277 RCV002226914 RCV002251299 RCV000157082 RCV002463427 RCV002471607 RCV003075002 RCV002795947 RCV000198068 RCV002996992 RCV003019962 RCV003037535 RCV003147924 RCV003153104 RCV000011658 RCV000011659 RCV000011660 RCV000011661 RCV000011664 RCV000011666 RCV003509523 RCV003485869 RCV003485932 RCV003333327 RCV003335810 RCV003387553 RCV003885327 RCV003509054 RCV003509420 RCV003622738 RCV003623456 RCV004555226 RCV004577435 RCV004577693 RCV004594898 RCV000505235 RCV000011663 RCV000528148 RCV000538294 RCV000625829 RCV000795508 RCV000798862 RCV000791881 RCV000813882 RCV001027990 RCV001056985 RCV001054846 RCV001064433 RCV001227225 RCV001231737 RCV001226724 RCV001780229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculofaciocardiodental syndrome (OFCD)	Likely pathogenic	rs2520018459	RCV004556164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1934549221	RCV005909311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid cystic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior segment dysgenesis 8	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL SARCOMA OF KIDNEY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTL CARIES-SMOOTH SURF	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse glioma, H3 G34 mutant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal rhabdomyosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA WITH ANKYLOBLEPHARON AND INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, LENZ TYPE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 1	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROPHTHALMIA, SYNDROMIC 2	—	CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild fetal ventriculomegaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA, EMBRYONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA, CLEAR CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sellar metastasis from primary bronchial carcinoid tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20807888, 24515802		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	ORPHANET_DG	20807888, 25790901		★☆☆☆☆ Found in Text Mining only
Acute promyelocytic leukemia	Promyelocytic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenoid Cystic Carcinoma	Adenocarcinoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adult Medulloblastoma	Medulloblastoma	BEFREE	28453743		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	25299233		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	25139356, 26132940	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	30046887	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	24431331	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	36261622, 39870121	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32493417	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28760529		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28440018		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31624251		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	24515802	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30134255		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	31234291		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	32383815	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	33713516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	28834902	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25360585, 29192652, 30051528, 30789359, 32034283, 32972432, 34819304, 36853789, 38427748	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24515802	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	39334415	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27825128		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22983184, 29914532, 36261622, 39438869	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	29226988, 32493417	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	26919435, 30816933, 31104347		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	27825128, 32493417, 38216991	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28453743		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	30134255		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31589790		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	31589790	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	34331570	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23669349		★☆☆☆☆ Found in Text Mining only
Ciliary body coloboma	Ciliary body coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	26098867, 26493387, 26516930, 26573325, 26945340, 27000436, 27428733, 28440018, 28704208, 28817404, 28833375, 30126017, 30864973, 30917048, 31676003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney	Sarcoma Of Kidney	ORPHANET_DG	26098867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell sarcoma of kidney	Sarcoma Of Kidney	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear Cell Sarcoma of Soft Tissue	Sarcoma	CTD_human_DG	26098867		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	28833375, 29661713		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	28877219	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31204702, 37399248	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	BEFREE	31048080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	22301464		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	19578371		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	23669349		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26184588		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28834902		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	28834902	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Congenital Heart Defects and Posterior Embryotoxon	Deafness with congenital heart defects and posterior embryotoxon	Pubtator	29974297	Associate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	23470693	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	24801613, 29661713		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	26752546, 27428733	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29974297	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	31204702	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	28704208		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	CTD_human_DG	29376028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27997699		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36958196	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	23580382, 24530230, 27631520, 28621321, 28787279, 29192652, 29200103, 29275929, 29901520, 30144186, 30380541, 30789359, 31846533		★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	28621321, 30789359		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24801613, 24805859, 26847175, 27228320, 27306060, 29300189, 29572501, 30064235, 31679010		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	16133367		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	29974297, 37895297	Associate	★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28453743, 32493417, 37587886	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29226988		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29974297		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	33713516	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29974297	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22983184	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30566180	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28827447, 30228234		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34570179	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36864468	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	28787279, 30382607		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	34819304	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	26098867, 30917048		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	26098867		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	28817404, 32628469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leiomyosarcoma	Leiomyosarcoma	BEFREE	28621321		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29192652	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma, Myxoid	Leiomyosarcoma	BEFREE	27631520, 29192652, 29275929, 30489320		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	31624251	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27219024, 30902969		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35015684	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	36054881	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22012066, 24047651, 24515802, 24923295, 25381129, 25550361, 27983727, 30480765, 32112433, 32380535, 32461631, 32833294, 35967966, 38019014, 38299584	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	24047651, 24515802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	20807888, 24515802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22012066, 24047651, 24515802, 26847029, 29663558, 30083851, 30480765		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	27428733, 27914109, 28817404, 29300189, 32034283, 32362012, 32372022, 39334415	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24515802		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29300189	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37328769	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10898795, 29974297	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	27505670, 28751561		★☆☆☆☆ Found in Text Mining only
Lymphoma, Extranodal NK-T-Cell	Lymphoma	BEFREE	31822801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27997699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	26098867		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20807888, 26493028, 27228320, 28760529, 28827447, 30228234, 30380541, 30902969, 31150281		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	24515802, 28453743	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28453743		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	19449433	Associate	★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 1	Microphthalmia	Pubtator	24515802, 29974297	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 2	Microphthalmia	Pubtator	19449433, 22012066, 22983184, 23470693, 29974297, 30046887, 30544426, 35130870, 36261622, 38178193, 39438869	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia, Lenz type	Microphthalmia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 1	Syndromic microphthalmia	BEFREE	15004558, 15770227, 17033686, 23815237, 30450806		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmia, syndromic 1	Syndromic microphthalmia	ORPHANET_DG	15004558		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmia, syndromic 1	Syndromic microphthalmia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmia, syndromic 1	Syndromic microphthalmia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmia, syndromic 2	Syndromic microphthalmia	UNIPROT_DG	15004558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 2	Syndromic microphthalmia	CLINVAR_DG	15004558, 19367324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 2	Syndromic microphthalmia	ORPHANET_DG	15004558, 15770227, 22301464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 2	Syndromic microphthalmia	BEFREE	15770227, 17517692, 19367324, 19578371, 22301464, 22983184, 23470693, 23669349, 24694763, 26054978, 26196063, 29058245, 29974297, 30046887, 30267259, 30396568, 30544426, 31048080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 2	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	15770227, 17517692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, syndromic 2	Syndromic microphthalmia	CTD_human_DG	17517692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	15004558, 24515802, 29974297, 30450806, 31048080		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35905688	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	19449433	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24047651, 24515802, 25006131, 26847029, 27121470, 30083851, 30228234, 30902969, 31771970		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24047651, 24515802, 32380535, 33679746, 34461985, 37558665, 38299584	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29974297	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	26773734		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29300189	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25299233, 26098867, 26573325, 26773734, 27126562, 27180056, 28621321, 28759137, 28827447, 28834902, 28877060, 29192652, 29200103, 29226988, 29300189, 29371980, 29431183, 29572501, 29661713, 29859355, 30126017, 30134255, 30144186, 30228234, 30380541, 30489320, 31104347, 31150281, 31471323, 31647130, 31679010, 31768620		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	16133367, 29226988		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28834902		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	38178234	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculofaciocardiodental syndrome	Oculofaciocardiodental Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	CTD_human_DG	22387997		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	24805859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	35738637	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27791010	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36690805	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	HPO_DG			★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	26248552		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31471323		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	24515802		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	24515802, 32139107	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	29572501, 29661713		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27428733, 39368853	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	16133367, 22387997, 24801613, 24805859, 25360585, 26573325, 26752546, 26847175, 26945340, 27228320, 27306060, 27428733, 28197724, 28420319, 28756981, 28817404, 29200103, 29300189, 29661713, 30064235, 30134255, 30324234, 30380541, 30382607, 30633925, 30895378, 31385070, 31632552, 31647130, 31679010, 31702654, 31802230		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25360585, 26573325, 26752546, 27428733, 28817404, 29104083, 29300189, 30474142, 31189997, 32871837, 33731886, 34103053, 34331570, 34819304, 35568949, 35836306, 37634866, 38178234, 38427748, 39567898, 40228447	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	30864973	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	26516930, 26573325, 26945340, 27428733, 28256570, 28817404, 30864973, 34325058, 35836306, 36563883, 36835166, 36853789	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	24285434, 27631520, 28621321, 29192652, 30789359, 32317704, 32352245, 33077922, 34302054, 34325058, 35738637, 36731460, 36864468, 38084541	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25360585, 29533464, 31702654, 34103053, 34331570, 39567898	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	26752546, 27428733, 27914109, 28817404	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	25006131, 27983727		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	29974297		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29661713		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	30864973		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	26752546, 27228320, 27914109, 29572501, 30633925		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	28560052		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25299233		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28834902	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	38178193, 39438869	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28825729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations