DNMT3B (DNA methyltransferase 3 beta)

Gene

• Entrez ID: 1789
• Gene name: DNA methyltransferase 3 beta
• Gene symbol: DNMT3B
• Synonyms (NCBI Gene): FSHD4, ICF, ICF1, M.HsaIIIB
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA met

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2424926	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs121908939	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908940	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908941	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908942	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908943	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908944	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908945	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs121908946	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs121908947	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145632647	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs150736372	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201579632	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377138079	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs547940069	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs747182299	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057518176	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1368779496	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1438362757	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT003025	hsa-miR-29c-3p	Luciferase reporter assay, Western blot, qRT-PCR	17890317
MIRT000955	hsa-miR-148a-3p	GFP reporter assay, Western blot, qRT-PCR	18367714
MIRT000955	hsa-miR-148a-3p	GFP reporter assay, Western blot, qRT-PCR	18367714
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	18996365
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	17890317
MIRT003025	hsa-miR-29c-3p	Luciferase reporter assay	17890317
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	19211935
MIRT003027	hsa-miR-29a-3p	Review	20130964
MIRT003027	hsa-miR-29a-3p	Review	20029422
MIRT000955	hsa-miR-148a-3p	Microarray, qRT-PCR	19435428
MIRT005961	hsa-miR-369-5p	Luciferase reporter assay	21660946
MIRT003026	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT003026	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT003026	hsa-miR-29b-3p	qRT-PCR, Western blot	21266537
MIRT018547	hsa-miR-335-5p	Microarray	18185580
MIRT019897	hsa-miR-375	Microarray	20215506
MIRT005961	hsa-miR-369-5p	Reporter assay;Western blot;qRT-PCR	21660946
MIRT003025	hsa-miR-29c-3p	Reporter assay;Other	17890317
MIRT003026	hsa-miR-29b-3p	Reporter assay;Other	17890317
MIRT003027	hsa-miR-29a-3p	Reporter assay;Other	17890317
MIRT048777	hsa-miR-93-5p	CLASH	23622248
MIRT053569	hsa-miR-200b-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23995857
MIRT053572	hsa-miR-200c-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23995857
MIRT003026	hsa-miR-29b-3p	qRT-PCR, Western blot	23179556
MIRT003026	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23100393
MIRT003027	hsa-miR-29a-3p	ChIP-seq, qRT-PCR, Western blot	23789939
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24343426
MIRT118410	hsa-miR-26a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24343426
MIRT003026	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003026	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003026	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003026	hsa-miR-29b-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27832631
MIRT003027	hsa-miR-29a-3p	Microarray, qRT-PCR	26251039
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26404322
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26404322
MIRT003026	hsa-miR-29b-3p	Luciferase reporter assay	25784815
MIRT735331	hsa-miR-302a-3p	qRT-PCR	32342936
MIRT003027	hsa-miR-29a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33717269
MIRT755580	hsa-miR-548ag	Western blotting	36769291
MIRT756036	hsa-miR-613	Luciferase reporter assay, Western blotting, qRT-PCR	36061358
MIRT035564	hsa-miR-148b-3p	Luciferase reporter assay, qRT-PCR	36959680
MIRT942568	hsa-miR-1	CLIP-seq
MIRT942569	hsa-miR-1204	CLIP-seq
MIRT942570	hsa-miR-124	CLIP-seq
MIRT942571	hsa-miR-1253	CLIP-seq
MIRT942572	hsa-miR-1255a	CLIP-seq
MIRT942573	hsa-miR-1255b	CLIP-seq
MIRT942574	hsa-miR-1258	CLIP-seq
MIRT942575	hsa-miR-1270	CLIP-seq
MIRT942576	hsa-miR-1273g	CLIP-seq
MIRT942577	hsa-miR-1283	CLIP-seq
MIRT942578	hsa-miR-129-3p	CLIP-seq
MIRT942579	hsa-miR-185	CLIP-seq
MIRT942580	hsa-miR-1973	CLIP-seq
MIRT942581	hsa-miR-206	CLIP-seq
MIRT942582	hsa-miR-2113	CLIP-seq
MIRT942583	hsa-miR-2355-5p	CLIP-seq
MIRT942584	hsa-miR-29a	CLIP-seq
MIRT942585	hsa-miR-29b	CLIP-seq
MIRT942586	hsa-miR-29c	CLIP-seq
MIRT942587	hsa-miR-3148	CLIP-seq
MIRT942588	hsa-miR-3152-3p	CLIP-seq
MIRT942589	hsa-miR-3166	CLIP-seq
MIRT942590	hsa-miR-3183	CLIP-seq
MIRT942591	hsa-miR-3190	CLIP-seq
MIRT942592	hsa-miR-3529	CLIP-seq
MIRT942593	hsa-miR-3613-3p	CLIP-seq
MIRT942594	hsa-miR-3653	CLIP-seq
MIRT942595	hsa-miR-3662	CLIP-seq
MIRT942596	hsa-miR-3663-3p	CLIP-seq
MIRT942597	hsa-miR-3679-3p	CLIP-seq
MIRT942598	hsa-miR-3688-3p	CLIP-seq
MIRT942599	hsa-miR-377	CLIP-seq
MIRT942600	hsa-miR-379	CLIP-seq
MIRT942601	hsa-miR-3920	CLIP-seq
MIRT942602	hsa-miR-3921	CLIP-seq
MIRT942603	hsa-miR-3929	CLIP-seq
MIRT942604	hsa-miR-3977	CLIP-seq
MIRT942605	hsa-miR-4289	CLIP-seq
MIRT942606	hsa-miR-4291	CLIP-seq
MIRT942607	hsa-miR-4306	CLIP-seq
MIRT942608	hsa-miR-4310	CLIP-seq
MIRT942609	hsa-miR-4318	CLIP-seq
MIRT942610	hsa-miR-4326	CLIP-seq
MIRT942611	hsa-miR-4328	CLIP-seq
MIRT942612	hsa-miR-4419b	CLIP-seq
MIRT942613	hsa-miR-4423-3p	CLIP-seq
MIRT942614	hsa-miR-4434	CLIP-seq
MIRT942615	hsa-miR-4440	CLIP-seq
MIRT942616	hsa-miR-4446-5p	CLIP-seq
MIRT942617	hsa-miR-4448	CLIP-seq
MIRT942618	hsa-miR-4451	CLIP-seq
MIRT942619	hsa-miR-4478	CLIP-seq
MIRT942620	hsa-miR-4481	CLIP-seq
MIRT942621	hsa-miR-4516	CLIP-seq
MIRT942622	hsa-miR-4531	CLIP-seq
MIRT942623	hsa-miR-4536	CLIP-seq
MIRT942624	hsa-miR-455-5p	CLIP-seq
MIRT942625	hsa-miR-4644	CLIP-seq
MIRT942626	hsa-miR-4650-3p	CLIP-seq
MIRT942627	hsa-miR-4653-5p	CLIP-seq
MIRT942628	hsa-miR-4662a-5p	CLIP-seq
MIRT942629	hsa-miR-4682	CLIP-seq
MIRT942630	hsa-miR-4723-3p	CLIP-seq
MIRT942631	hsa-miR-4745-5p	CLIP-seq
MIRT942632	hsa-miR-4752	CLIP-seq
MIRT942633	hsa-miR-4758-5p	CLIP-seq
MIRT942634	hsa-miR-4768-5p	CLIP-seq
MIRT942635	hsa-miR-4771	CLIP-seq
MIRT942636	hsa-miR-483-3p	CLIP-seq
MIRT942637	hsa-miR-490-3p	CLIP-seq
MIRT942638	hsa-miR-494	CLIP-seq
MIRT942639	hsa-miR-496	CLIP-seq
MIRT942640	hsa-miR-502-5p	CLIP-seq
MIRT942641	hsa-miR-505	CLIP-seq
MIRT942642	hsa-miR-506	CLIP-seq
MIRT942643	hsa-miR-508-5p	CLIP-seq
MIRT942644	hsa-miR-548ac	CLIP-seq
MIRT942645	hsa-miR-548ad	CLIP-seq
MIRT942646	hsa-miR-548ae	CLIP-seq
MIRT942647	hsa-miR-548aj	CLIP-seq
MIRT942648	hsa-miR-548am	CLIP-seq
MIRT942649	hsa-miR-548d-3p	CLIP-seq
MIRT942650	hsa-miR-548x	CLIP-seq
MIRT942651	hsa-miR-548z	CLIP-seq
MIRT756036	hsa-miR-613	CLIP-seq
MIRT942652	hsa-miR-620	CLIP-seq
MIRT942653	hsa-miR-643	CLIP-seq
MIRT942654	hsa-miR-649	CLIP-seq
MIRT942655	hsa-miR-766	CLIP-seq
MIRT942656	hsa-miR-200b	CLIP-seq
MIRT942657	hsa-miR-200c	CLIP-seq
MIRT942658	hsa-miR-3157-5p	CLIP-seq
MIRT942602	hsa-miR-3921	CLIP-seq
MIRT942659	hsa-miR-429	CLIP-seq
MIRT942627	hsa-miR-4653-5p	CLIP-seq
MIRT942629	hsa-miR-4682	CLIP-seq
MIRT942660	hsa-miR-4800-3p	CLIP-seq
MIRT942661	hsa-miR-4803	CLIP-seq
MIRT755580	hsa-miR-548ag	CLIP-seq
MIRT942662	hsa-miR-548ai	CLIP-seq
MIRT942663	hsa-miR-618	CLIP-seq
MIRT942664	hsa-miR-626	CLIP-seq
MIRT942665	hsa-miR-645	CLIP-seq
MIRT942666	hsa-miR-668	CLIP-seq
MIRT942576	hsa-miR-1273g	CLIP-seq
MIRT942579	hsa-miR-185	CLIP-seq
MIRT1979125	hsa-miR-1976	CLIP-seq
MIRT1979126	hsa-miR-3690	CLIP-seq
MIRT942599	hsa-miR-377	CLIP-seq
MIRT1979127	hsa-miR-4254	CLIP-seq
MIRT942607	hsa-miR-4306	CLIP-seq
MIRT942609	hsa-miR-4318	CLIP-seq
MIRT1979128	hsa-miR-4506	CLIP-seq
MIRT942625	hsa-miR-4644	CLIP-seq
MIRT1979129	hsa-miR-629	CLIP-seq
MIRT942569	hsa-miR-1204	CLIP-seq
MIRT942570	hsa-miR-124	CLIP-seq
MIRT942577	hsa-miR-1283	CLIP-seq
MIRT2214233	hsa-miR-145	CLIP-seq
MIRT2214234	hsa-miR-2278	CLIP-seq
MIRT942583	hsa-miR-2355-5p	CLIP-seq
MIRT2214235	hsa-miR-25	CLIP-seq
MIRT942584	hsa-miR-29a	CLIP-seq
MIRT942585	hsa-miR-29b	CLIP-seq
MIRT942586	hsa-miR-29c	CLIP-seq
MIRT942590	hsa-miR-3183	CLIP-seq
MIRT2214236	hsa-miR-32	CLIP-seq
MIRT942593	hsa-miR-3613-3p	CLIP-seq
MIRT2214237	hsa-miR-363	CLIP-seq
MIRT942594	hsa-miR-3653	CLIP-seq
MIRT2214238	hsa-miR-367	CLIP-seq
MIRT942597	hsa-miR-3679-3p	CLIP-seq
MIRT2214239	hsa-miR-3925-3p	CLIP-seq
MIRT942611	hsa-miR-4328	CLIP-seq
MIRT942615	hsa-miR-4440	CLIP-seq
MIRT942616	hsa-miR-4446-5p	CLIP-seq
MIRT2214240	hsa-miR-4704-3p	CLIP-seq
MIRT942630	hsa-miR-4723-3p	CLIP-seq
MIRT2214241	hsa-miR-4728-5p	CLIP-seq
MIRT942636	hsa-miR-483-3p	CLIP-seq
MIRT942642	hsa-miR-506	CLIP-seq
MIRT2214242	hsa-miR-520d-5p	CLIP-seq
MIRT2214243	hsa-miR-524-5p	CLIP-seq
MIRT942646	hsa-miR-548ae	CLIP-seq
MIRT942647	hsa-miR-548aj	CLIP-seq
MIRT942648	hsa-miR-548am	CLIP-seq
MIRT2214244	hsa-miR-548c-3p	CLIP-seq
MIRT942650	hsa-miR-548x	CLIP-seq
MIRT2214245	hsa-miR-92a	CLIP-seq
MIRT2214246	hsa-miR-92b	CLIP-seq
MIRT2214247	hsa-miR-935	CLIP-seq
MIRT2518593	hsa-miR-1228	CLIP-seq
MIRT2518594	hsa-miR-1343	CLIP-seq
MIRT2518595	hsa-miR-149	CLIP-seq
MIRT2518596	hsa-miR-760	CLIP-seq
MIRT2518593	hsa-miR-1228	CLIP-seq
MIRT2518594	hsa-miR-1343	CLIP-seq
MIRT2518595	hsa-miR-149	CLIP-seq
MIRT2518596	hsa-miR-760	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
RBL2	Repression	24316981
SP1	Activation	15362956
SP2	Activation	15362956
SP3	Unknown	15362956

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	IDA	17303076
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	17303076
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	18567530
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IDA	16543361
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	IEA
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	NAS	10647011
GO:0003886	Function	DNA (cytosine-5-)-methyltransferase activity	TAS	10433969
GO:0005515	Function	Protein binding	IPI	11735126, 16357870, 16983096, 17303076, 18953337, 19798101, 22094255, 24074865, 27728808, 32968275, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17303076
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32083663
GO:0005634	Component	Nucleus	TAS	10433969
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009008	Function	DNA-methyltransferase activity	IEA
GO:0009008	Function	DNA-methyltransferase activity	NAS	10325416, 10555141, 11102980
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	18413740
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051718	Function	DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates	IBA
GO:1902494	Component	Catalytic complex	IPI	32083663

Other IDs

• MIM: 602900
• HGNC: 2979
• e!Ensembl: ENSG00000088305

Protein

• UniProt ID: Q9UBC3
• Protein name: DNA (cytosine-5)-methyltransferase 3B (Dnmt3b) (EC 2.1.1.37) (DNA methyltransferase HsaIIIB) (DNA MTase HsaIIIB) (M.HsaIIIB)
• Protein function: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within
• PDB: 3FLG, 3QKJ, 5CIU, 5NR3, 5NRR, 5NRS, 5NRV, 5NV0, 5NV2, 5NV7, 5NVO, 6KDA, 6KDB, 6KDL, 6KDP, 6KDT, 6PA7, 6R3E, 6U8P, 6U8V, 6U8W, 6U8X, 6U90, 6U91, 7O45, 7V0E, 7X9D, 8EIH, 8EII, 8EIJ, 8EIK, 8XEE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00855	PWWP	223 → 313	PWWP domain	Domain
  PF17980	ADD_DNMT3	416 → 471	Cysteine rich ADD domain in DNMT3	Domain
  PF00145	DNA_methylase	575 → 725	C-5 cytosine-specific DNA methylase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tis
• Sequence:

  MKGDTRHLNGEEDAGGREDSILVNGACSDQSSDSPPILEAIRTPEIRGRRSSSRLSKREV
  SSLLSYTQDLTGDGDGEDGDGSDTPVMPKLFRETRTRSESPAVRTRNNNSVSSRERHRPS
  PRSTRGRQGRNHVDESPVEFPATRSLRRRATASAGTPWPSPPSSYLTIDLTDDTEDTHGT
  PQSSSTPYARLAQDSQQGGMESPQVEADSGDGDSSEYQDGKEFGIGDLVWGKIKGFSWWP
  AMVVSWKATSKRQAMSGMRWVQWFGDGKFSEVSADKLVALGLFSQHFNLATFNKLVSYRK
  AMYHALEKARVRAGKTFPSSPGDSLEDQLKPMLEWAHGGFKPTGIEGLKPNNTQPVVNKS
  KVRRAGSRKLESRKYENKTRRRTADDSATSDYCPAPKRLKTNCYNNGKDRGDEDQSREQM
  ASDVANNKSSLEDGCLSCGRKNPVSFHPLFEGGLCQTCRDRFLELFYMYDDDGYQSYCTV
  CCEGRELLLCSNTSCCRCFCVECLEVLVGTGTAAEAKLQEPWSCYMCLPQRCHGVLRRRK
  DWNVRLQAFFTSDTGLEYEAPKLYPAIPAARRRPIRVLSLFDGIATGYLVLKELGIKVGK
  YVASEVCEESIAVGTVKHEGNIKYVNDVRNITKKNIEEWGPFDLVIGGSPCNDLSNVNPA
  RKGLYEGTGRLFFEFYHLLNYSRPKEGDDRPFFWMFENVVAMKVGDKRDISRFLECNPVM
  IDAIKVSAAHRARYFWGNLPGMNRPVIASKNDKLELQDCLEYNRIAKLKKVQTITTKSNS
  IKQGKNQLFPVVMNGKEDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIR
  HLFAPLKDYFACE

• Sequence length: 853

Pathways

KEGG:

Cysteine and methionine metabolism
Metabolic pathways
MicroRNAs in cancer

Reactome:

PRC2 methylates histones and DNA
SUMOylation of DNA methylation proteins

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
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Pathogenic; Likely pathogenic	rs2145960216, rs2145982663, rs2146082310, rs1219696128, rs867732105, rs121908940, rs121908941, rs121908943, rs547940069, rs121908946, rs2515523115, rs745507181, rs760640013, rs1191203668, rs2515648455, rs1981470800, rs2515644807, rs766541836, rs2515657453, rs775949142, rs2515610149, rs2515536377, rs2515519487, rs1438362757, rs1368779496, rs1978602545, rs1568857280, rs1979652729, rs768347895	RCV001380868 RCV001383314 RCV002037908 RCV003594182 RCV003050554 RCV002512865 RCV002227999 RCV002512866 RCV003593854 RCV003593855 RCV003595050 RCV003593415 RCV003593401 RCV003593402 RCV003593521 RCV003594379 RCV003594465 RCV003758211 RCV003758450 RCV003758434 RCV003759473 RCV003824047 RCV003856653 RCV000543048 RCV002234880 RCV001221994 RCV001225027 RCV001232126 RCV001237586	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Facioscapulohumeral muscular dystrophy 4, digenic	Pathogenic; Likely pathogenic	rs2146029958, rs121908943	RCV001568341 RCV005031403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Likely pathogenic; Pathogenic	rs2146098171, rs1219696128, rs121908939, rs121908940, rs121908941, rs121908942, rs121908943, rs547940069, rs121908944, rs121908945, rs121908946, rs121908947, rs1368779496	RCV002244166 RCV002281886 RCV000007125 RCV000007126 RCV005055507 RCV000007128 RCV000007132 RCV000007133 RCV000007134 RCV000007135 RCV000007136 RCV000007137 RCV000814474	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNMT3B-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	—	HPO	★★☆☆☆ 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
ICF SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Undifferentiated Leukemia	Leukemia	BEFREE	26729896		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15962389, 17318376		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17318376, 19626461		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	17318376, 19626461		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	19626461		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19854132		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18268116		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18268116		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	26485042, 27062459		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16870044		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	19626461, 21068132		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27543768		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36646969	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22272627, 26079324		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24423239		★☆☆☆☆ Found in Text Mining only
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	17908720		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	27345867		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31733201		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28349196	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	29850963		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26892683		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31733201		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32067910	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28846808	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28353182, 29455340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	25290267		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25290267	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36544766	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25739334	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	29748604, 30906331	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	30906331		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28830794		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28830794, 33875800	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28278502, 28779971, 29893409, 30511377		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	30072211		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24316981, 25142793		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14555514, 15217506, 17094413, 17318376, 18221536, 18670789, 21359954, 22664488, 23079992, 24297604, 28784292, 28979331, 29796115, 30851420, 31340867, 31659695		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18221536, 22520950		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15217506, 15606925, 15962389, 18221536, 18670789, 19358274, 20830311, 22520950, 22664488, 24297604, 26070560, 26556862, 26980709, 28351365, 29796115, 33242831, 34242723, 37592220, 40585280	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17094413, 31880901	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	25746661, 29100357, 29318382		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	29318382, 32424339	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18455294, 18662374, 19723660, 20467490, 22394436, 23857059, 24069326, 24423239, 25263941, 26254611, 26262893, 26406961, 27317771, 33221743	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	21458988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17993720, 19951990, 23300844, 24386123	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	30614867	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18023104, 20398055, 21625215, 23545144, 26254611, 26850594, 29425759, 33247696, 33522955, 34319031, 35931200, 38168140	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24292451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28278502, 28779971, 29893409, 30511377		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12208751, 12879017, 15528220, 16004934, 16012746, 16211278, 16702365, 17369845, 18006804, 24469050, 25122426, 26629529, 27876061, 27910778, 29027179, 29332452, 29416619, 29568927		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	22768205	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24423239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25550796, 28160561, 34133843, 37737260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18414412, 20951977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	15721400, 24071015, 30614867		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23666104		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28111737		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	28747138, 31755320		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27830956		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22330137, 23677709, 28459195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	22330137, 23677709, 28459195		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	28892045, 29928480		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27543768		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	18563322		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37486965	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	15467427		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12110732, 17549390, 31344396		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22207353	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17318376, 17660710, 19156137, 19470733, 19723660, 20454457, 22244828, 22563479, 25769449, 27253631, 27668319, 30540937		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	19470733		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19470733, 34086943	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18327804, 18662374, 19470733, 20960050, 21519807, 22244828, 23946381, 24178910, 25515408, 25769449, 26406961, 26416384, 26485042, 26497367, 27253631, 27356727, 31024853, 31058532		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16421593, 18662374, 19470733, 19723660, 20960050, 22563479, 23368921, 23708667, 25769449, 26108676, 26406961, 27356727, 27668319, 28300471, 32119177, 32711442, 35763627, 37394872	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18662374		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	20454457		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36655868	Stimulate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	22786748		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	21120685		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	30906331		★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	19968527		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27292127		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1464143, 2073710		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28614801, 30972197, 31534049		★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	30651097		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31811564	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37066707	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30496316	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30496316		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37681455	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20398054		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23081874, 25656965, 26317209, 27245352, 29379364		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26317209, 27245352, 36980848	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	19576953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset schizophrenia	Schizophrenia	PSYGENET_DG	19576953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	19681156		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	30614867		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15661247, 15805266, 19107573, 28220037, 29228451		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28220037, 29228451	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	26239024		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17081533		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17081533, 26239024	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26239024		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18407600, 20426865		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20426865		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32051106	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21150312	Associate	★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral dystrophy	Facioscapulohumeral Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY	UNIPROT_DG	27153398		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30341411		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25290169		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	BEFREE	31129925		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	31219560		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	31219560	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	15962389		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38368287	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28454437		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	27237591		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	27237591	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20514408, 24362509, 25433949		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27391030, 33369477	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25846410, 36980848	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	36980848	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36544766	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	29425759	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23545144	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	26850594	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	26850594	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	39595571, 39684755	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	16702365		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	36361550	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24577265, 26879676, 28740121		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24577265, 26879676	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21752916	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20543577	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29746587	Associate	★☆☆☆☆ Found in Text Mining only
ICF syndrome	Immunodeficiency-centromeric instability-facial anomalies syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29568927		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29568927	Associate	★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	33904683	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30885881		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	18437543, 18683034, 19696477, 22885766, 23000068, 27590349		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	LHGDN	18683034		★☆☆☆☆ Found in Text Mining only
Immunodeficiency syndrome, variable	Immunodeficiency	CLINVAR_DG	10588719, 10647011, 11102980, 11741835, 16543361, 17893117, 23486536		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	UNIPROT_DG	10555141, 10588719, 10647011, 11102980, 15580563, 21120685, 27734333		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	GENOMICS_ENGLAND_DG	10647011		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CLINVAR_DG	10647011, 11102980, 11919202, 15580563		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CTD_human_DG	15580563, 15952214, 17893117, 18029387, 18762900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	BEFREE	23486536, 25027325		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	BEFREE	23739126		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10588719, 11063717, 11702227, 12900541, 30861354		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	17908720		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28894282	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28894282	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18029387, 23486536		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35340126	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	29259247		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27604394		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	34133843	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26505438		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11222358, 26729896, 27013212, 27133822, 28364352, 31547729		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11222358, 36361550	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11222358, 17353906, 19211935, 21415852, 23251566, 24069326, 24457336, 25204569, 27748863, 32597790, 34862757, 36329185	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	29259247	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11222358, 23178755, 23251566, 24457336, 25204569, 27013212, 27133822, 27636548, 28892045, 29439669		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Accelerated Phase	Myeloid Leukemia	BEFREE	30072211		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	20951977		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	20951977		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24625449, 31253192		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11230735, 12110732, 15885882, 17549390, 18023104, 18593903, 19465161, 19502167, 20398055, 20506537, 21909138, 26254611, 26660680, 30017965, 30718452, 31344396, 31771617		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18023104		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12110732, 17549390, 31344396		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38168140	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19502167		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12208751, 15528220, 16773201, 17369845, 17890317, 19024105		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15217506, 16434257, 17890317, 21246532, 26942697, 27876061, 29568927, 34587932, 35627221, 38376279	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17140695, 26112163		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	18194272, 35507987	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18194272, 21595664, 23054340		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	23054340		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	15962389		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	LHGDN	15962389		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22768205, 25550796	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22133874, 23368921		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	24435047		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21592522		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24362509, 25433949		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14555514, 15217506, 17094413, 17318376, 18221536, 21359954, 22664488, 23079992, 24297604, 24375250, 28784292, 28979331, 29796115, 30851420, 31340867, 31659695		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18221536, 22520950		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	15661247, 15805266, 19107573, 29228451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18407600, 20426865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12208751, 12879017, 15528220, 16004934, 16012746, 16211278, 16702365, 17369845, 18006804, 24469050, 25122426, 26629529, 27876061, 27910778, 29027179, 29332452, 29416619, 29568927		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24625449, 31253192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23666104		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29207141, 30601190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	28751665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11870882, 16012746, 17938735, 18637271, 22810147, 23254386, 25749421, 28381803, 30341411, 30689682		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16012746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11146446, 16211278, 19517237, 20127025, 22942708, 26172537, 26262893, 27356727, 29027179, 29332452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28278502, 28779971, 29893409, 30511377		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10894953, 11485905, 15661247, 15721400, 16920385, 17239456, 18097598, 18662374, 19465161, 19465937, 19723660, 20454457, 20514408, 20587527, 20833755, 20960050, 21887463, 21938431, 22133874, 22815530, 22964322, 23081874, 23296054, 23474979, 23517596, 23788674, 25433949, 25461380, 25515408, 26262893, 26305882, 26406961, 26505438, 27062459, 27356727, 27623253, 28123849, 28225755, 28425913, 30341411, 30468428, 31771617, 31802101, 9330620		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22330137, 23677709, 28459195		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17318376, 17660710, 19156137, 19470733, 19723660, 20454457, 22244828, 22563479, 25769449, 27253631, 27668319, 30540937		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11708861		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18221536, 22520950		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14555514, 17071074, 29574992		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14555514, 18221536		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18221536, 22520950		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18221536, 22520950		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27543768		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	27543768	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21081840, 26923591, 29298480		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21081840	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	23025623		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18029387		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	16434257, 19233506	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30010131, 31051042		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21592522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	21592522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	31253192, 32238162	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36043519	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	17785671		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	27153398, 28587678, 32467133	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	17239456, 17785671, 28587678		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Scapulohumeral	Muscular dystrophy	BEFREE	10699183		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	24260492, 29718870		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	24260492, 27999265	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32431489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11222358		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31811564	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18097598, 27223069		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26975503, 27223069, 36061358	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12594811, 15217506, 15661247, 17071074, 17653095, 19024105, 19470733, 20127025, 20454457, 20587527, 20833755, 21081840, 21521786, 22133874, 22301400, 22394436, 22563479, 23517596, 24362509, 24375250, 25122426, 25550796, 25769449, 25948775, 26305882, 26629529, 26667181, 27133822, 27223069, 27668319, 28440439, 29100357, 29432024, 30341411, 30406101, 31344396, 31534549, 31771617		★☆☆☆☆ Found in Text Mining only
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor	Perlman syndrome	GENOMICS_ENGLAND_DG	23486536		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20841484	Inhibit	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22815530		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12101420, 16773201, 16888795, 16951144, 18414412, 19024105, 22399498, 23939044, 24469050		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30917489		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28192769		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25651499, 25846410, 34139469	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31030726		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28215635		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31364725		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31364725	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	14559786		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23666104		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22768205, 23666104, 33289590, 36361550	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29207141, 30601190		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27696538		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28041964, 28990350		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	32267380, 35507987	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30204276		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29100357		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11870882, 16012746, 18637271, 22810147, 23254386, 25749421, 28381803, 30341411, 30689682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16012746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16012746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17938735, 18637271, 21521786, 21990314, 24001151, 25938433, 30689682, 32159363, 32660355, 34183450, 34227253, 34728570, 37686409, 37900138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28192769		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	17149367		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35581740	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12594811		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26584543	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20959668		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	37511576	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27764816		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27764816, 34831178	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	27764816, 34831178	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19777235, 29661183, 29850963		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	36361550	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24859147, 28192769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24859147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	33904683	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	15856041, 17993720, 22394436, 26226633		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	17993720, 22394436, 24386123	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	28628607	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	26584543, 36544766	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16702365, 30596070		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29845195	Stimulate	★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	17071074		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12738984, 17017004		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17017004, 20951977, 28425913, 31796082		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17017004, 21150312		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18455294, 22461910, 26505438, 27391030, 31253192, 31969157, 32238162, 33369477	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15375549, 16920385, 18455294, 22461910		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31344396		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11146446, 11496321, 16211278, 19517237, 20127025, 22942708, 26172537, 26262893, 27356727, 29027179, 29332452		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15962389, 22833454, 22942708, 23549984, 25009393, 25823664, 26172537, 26262893, 27356727, 32065219	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18253830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21458988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	12594811		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	19951990, 34482638	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	23820632		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	Pubtator	35763627	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	24260492		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35864964	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27237591	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	14645008		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40427627	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	21458988		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27317771, 28779971, 33221743	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	25126948		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28459195, 36653180	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32067910	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	16501171		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	27604394		★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar lichen sclerosus	Pubtator	33438816	Stimulate	★☆☆☆☆ Found in Text Mining only