SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1)

Gene

• Entrez ID: 6598
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit B1
• Gene symbol: SMARCB1
• Synonyms (NCBI Gene): BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
• Chromosome: 22
• Chromosome location: 22q11.23|22q11
• Summary: The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining ac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315513	C>T	Pathogenic	Stop gained, coding sequence variant
rs112038099	G>A,C	Pathogenic	Splice donor variant
rs121434496	C>T	Pathogenic	Coding sequence variant, stop gained
rs138184483	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149451748	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs267607072	A>T	Pathogenic	Coding sequence variant, missense variant
rs387906811	C>T	Pathogenic	Missense variant, coding sequence variant
rs398122368	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587776677	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776678	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776679	ATGGTAAAAAAACA>TACC	Pathogenic	Intron variant, frameshift variant, splice donor variant, coding sequence variant
rs727504162	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs779769475	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs797045989	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs875989800	AGA>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs886039520	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060503015	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060503016	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060503017	GAAGACCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555875308	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555875892	->GATA	Pathogenic	Coding sequence variant, stop gained
rs1555875915	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555875917	A>T	Pathogenic	Coding sequence variant, stop gained
rs1555876140	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1555877276	G>C	Pathogenic	Splice acceptor variant
rs1555877286	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555877287	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555881567	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555881586	G>A	Pathogenic	Splice donor variant
rs1568937087	A>G	Likely-pathogenic	Splice acceptor variant
rs1568937197	G>A,C	Pathogenic, not-provided	Splice donor variant
rs1601433318	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004861	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR	19074876
MIRT023864	hsa-miR-1-3p	Proteomics	18668040
MIRT024448	hsa-miR-215-5p	Microarray	19074876
MIRT004861	hsa-miR-192-5p	Reporter assay;Microarray;Other	19074876
MIRT051937	hsa-let-7b-5p	CLASH	23622248
MIRT438222	hsa-miR-206	Immunohistochemistry, qRT-PCR	24327545
MIRT438221	hsa-miR-381-3p	Immunohistochemistry, qRT-PCR	24327545
MIRT438220	hsa-miR-671-5p	Immunohistochemistry, qRT-PCR	24327545
MIRT438222	hsa-miR-206	Immunohistochemistry, qRT-PCR	24327545
MIRT438221	hsa-miR-381-3p	Immunohistochemistry, qRT-PCR	24327545
MIRT438220	hsa-miR-671-5p	Immunohistochemistry, qRT-PCR	24327545
MIRT439585	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439585	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT739150	hsa-miR-1281	HITS-CLIP	33718276
MIRT739157	hsa-miR-762	HITS-CLIP	33718276
MIRT739158	hsa-miR-378g	HITS-CLIP	33718276
MIRT1371671	hsa-miR-1254	CLIP-seq
MIRT1371672	hsa-miR-1284	CLIP-seq
MIRT1371673	hsa-miR-129-3p	CLIP-seq
MIRT1371674	hsa-miR-300	CLIP-seq
MIRT1371675	hsa-miR-3116	CLIP-seq
MIRT1371676	hsa-miR-3173-5p	CLIP-seq
MIRT1371677	hsa-miR-337-3p	CLIP-seq
MIRT1371678	hsa-miR-381	CLIP-seq
MIRT1371679	hsa-miR-3943	CLIP-seq
MIRT1371680	hsa-miR-4283	CLIP-seq
MIRT1371681	hsa-miR-4286	CLIP-seq
MIRT1371682	hsa-miR-4489	CLIP-seq
MIRT1371683	hsa-miR-4661-5p	CLIP-seq
MIRT1371684	hsa-miR-4666-3p	CLIP-seq
MIRT1371685	hsa-miR-4687-5p	CLIP-seq
MIRT1371686	hsa-miR-619	CLIP-seq
MIRT1371687	hsa-miR-661	CLIP-seq
MIRT2110268	hsa-miR-1202	CLIP-seq
MIRT2110269	hsa-miR-3202	CLIP-seq
MIRT2110270	hsa-miR-3972	CLIP-seq
MIRT2110271	hsa-miR-4426	CLIP-seq
MIRT2110272	hsa-miR-4534	CLIP-seq
MIRT2110273	hsa-miR-4647	CLIP-seq
MIRT2110274	hsa-miR-4662b	CLIP-seq
MIRT2110275	hsa-miR-4747-5p	CLIP-seq
MIRT2110276	hsa-miR-4802-5p	CLIP-seq
MIRT2110277	hsa-miR-502-5p	CLIP-seq
MIRT1371686	hsa-miR-619	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PARP1	Unknown	17616514

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IEA
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IMP	22368283
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0001741	Component	XY body	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0002039	Function	P53 binding	IPI	11950834
GO:0003677	Function	DNA binding	IDA	26073604
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11950834
GO:0003713	Function	Transcription coactivator activity	IMP	16687403
GO:0005515	Function	Protein binding	IPI	10078207, 10365963, 12368262, 14963118, 15985610, 16601680, 16687403, 20111005, 21900206, 22368283, 23540691, 24874740, 24981860, 27229929, 28514442, 30108113, 31759698, 32296183, 32814053, 33961781, 34591612, 35271311, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11430827, 22368283
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS	7801128
GO:0005730	Component	Nucleolus	IDA	22368283
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	7801128
GO:0007399	Process	Nervous system development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0015074	Process	DNA integration	TAS	7801128
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 11078522, 11950834
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0030957	Function	Tat protein binding	IPI	16687403
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	IBA
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0039692	Process	Single stranded viral RNA replication via double stranded DNA intermediate	IDA	14963118
GO:0042802	Function	Identical protein binding	IPI	27229929, 30108113
GO:0043073	Component	Germ cell nucleus	IEA
GO:0043923	Process	Host-mediated activation of viral transcription	IMP	16687403
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	22368283
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11950834
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0070365	Process	Hepatocyte differentiation	IEA
GO:0071564	Component	NpBAF complex	IBA
GO:0071564	Component	NpBAF complex	IEA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IBA
GO:0071565	Component	NBAF complex	IEA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	22368283
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	22368283
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220
GO:1902661	Process	Positive regulation of glucose mediated signaling pathway	IDA	22368283
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

Other IDs

• MIM: 601607
• HGNC: 11103
• e!Ensembl: ENSG00000099956

Protein

• UniProt ID: Q12824
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (BRG1-associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5)
• Protein function: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is
• PDB: 5AJ1, 5GJK, 5L7A, 5L7B, 6AX5, 6KAG, 6KZ7, 6LTH, 6LTJ, 6LZP, 6UCH, 7VDV, 7Y8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04855	SNF5	179 → 256	SNF5 / SMARCB1 / INI1	Family
  PF04855	SNF5	249 → 373	SNF5 / SMARCB1 / INI1	Family

• Sequence:

  MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEER
  KKIVASSHGKKTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYL
  REQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA
  SQPEVLVPIRLDMEIDGQKLRDAFTWNMNEKLMTPEMFSEILCDDLDLNPLTFVPAIASA
  IRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFEWDMSEKENSPEKFALKLCSE
  LGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWCPLLETLTDAE
  MEKKIRDQDRNTRRMRRLANTAPAW

• Sequence length: 385

Pathways

KEGG:

ATP-dependent chromatin remodeling
Viral life cycle - HIV-1
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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
Atypical teratoid rhabdoid tumor	Pathogenic	rs2146045204, rs1060503015, rs1555877286	RCV006254315 RCV006254061 RCV006254124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome	Likely pathogenic; Pathogenic	rs2146026614, rs878854600, rs1057517825, rs398122368, rs2030331202	RCV001806729 RCV005365185 RCV004798828 RCV004556052 RCV001269267	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1057517825	RCV005900669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs1057517825	RCV006253943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2517652605, rs2030331202, rs112038099, rs74315513, rs878854600, rs2517724673, rs1057517825, rs875989800, rs779769475, rs1555875915, rs763994045, rs1928400256, rs2145978723	RCV002327850 RCV002387336 RCV004018590 RCV003278655 RCV003298297 RCV004508446 RCV004022158 RCV002444438 RCV002402285 RCV000561914 RCV005732250 RCV003163641 RCV002339715	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 15	Likely pathogenic; Pathogenic	rs2146042583, rs2030318562, rs886039520, rs797045989, rs1057517825, rs875989800, rs1555877287, rs398122368	RCV001594445 RCV001330808 RCV001843755 RCV000194966 RCV001782753 RCV000850606 RCV000023121 RCV000505224 RCV000074462	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant rhabdoid tumor, somatic	Pathogenic	rs587776677	RCV000008486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Likely pathogenic; Pathogenic	rs1057517825	RCV005647999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs2146042724, rs1057517825, rs875989800	RCV004674022 RCV006273717 RCV006273066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NK-cell enteropathy	Likely pathogenic	rs1601446826	RCV000791312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral schwannoma	Likely pathogenic; Pathogenic	rs878854600	RCV000626834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdoid tumor predisposition syndrome 1	Pathogenic; Likely pathogenic	rs2030790572, rs2146045204, rs2517684307, rs587776678, rs112038099, rs2146042724, rs875989800, rs1060503015, rs1555875917, rs1601433318, rs2145978723	RCV001335091 RCV005055181 RCV002466913 RCV000008488 RCV000008489 RCV004573666 RCV002504820 RCV005600935 RCV000532865 RCV000857232 RCV001523823	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schwannoma	Likely pathogenic; Pathogenic	rs878854600	RCV000626834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Pathogenic	rs1929106223, rs2145980559, rs2145980562	RCV002243179 RCV001824473 RCV001824474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis 1, somatic	Pathogenic	rs121434496	RCV000008491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCB1-related BAFopathy	Likely pathogenic; Pathogenic	rs2030318562, rs1057517825, rs398122368	RCV001533134 RCV001533136 RCV001533133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCB1-related disorder	Pathogenic; Likely pathogenic	rs2030790572, rs2146026614, rs779769475	RCV005863419 RCV003335855 RCV004740242	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCB1-related schwannomatosis	Pathogenic; Likely pathogenic	rs2145964108, rs2146010204, rs74315513, rs587776679, rs2517664783, rs878854600, rs2146042856, rs2517652434, rs875989800, rs779769475	RCV002246731 RCV002246732 RCV000008490 RCV000008492 RCV000008493 RCV000656363 RCV003228217 RCV003448545 RCV002504820 RCV000785603	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Teratoid tumor, atypical	Pathogenic	rs1555876140	RCV000853299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs1057517825	RCV005900670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adenoid cystic carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL MULTIPLE MENINGIOMA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; -; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOID TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid tumor predisposition syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rhabdoid tumor predisposition syndrome 2	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	21613800	Associate	★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	22105938, 24740647, 28365909, 28737257		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	12684622		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11104031		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12684622		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25007146, 27184481		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	24327545		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	27184481		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11104031		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	27460089		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10914721, 11972800, 26109171		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11104031		★☆☆☆☆ Found in Text Mining only
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY	Oxoglutaricaciduria	BEFREE	25169651		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	29438167		★☆☆☆☆ Found in Text Mining only
Amnesia, Transient Global	Amnesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	24503755, 27562491, 28181325, 28863077, 30169623		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	11547953		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29907796	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	30980040	Inhibit	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	28981154	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	28181325	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	CLINGEN_DG	10521299, 10739763, 11095756, 15105654, 16099835, 19124645, 19902524, 23540691		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	10914721, 11921280, 12946029, 15105654, 15485613, 15761491, 15881754, 15892296, 15981100, 16195799, 16261613, 17377740, 18236049, 19220299, 19231929, 19725831, 19902524, 19938088, 20882288, 20919607, 21057957, 21566516, 22020042, 22082607, 22120608, 23074045, 23161096, 23382118, 23510391, 23880166, 24034858, 24131750, 24284868, 24585572, 25016934, 25638158, 25909878, 26109171, 26998479, 27656868, 27734605, 28382842, 28502320, 28731921, 28789476, 28812319, 29110337, 29228610, 29271065, 29280680, 29512865, 30169623, 30446899, 30470167, 30840885, 30856630, 31462227, 31632875		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical teratoid rhabdoid tumor	Teratoid Rhabdoid Tumor	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25018128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	22490415, 29650362		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	24525513, 26073604, 28824165		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10463572, 21494030		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30134255		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10739763, 11484819, 15105654, 19220299, 22188464, 23197309, 25909878, 26109171, 26769252, 27380723, 28789476, 30840885, 31462227		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26109171	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31462227	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	26769252		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28302160	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37202799	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36975468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11782423, 25018128, 25973116, 30683081, 32129445, 32839151, 32912900, 35864317, 38040699	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10556283, 12213194, 12946029, 15642401, 21934399, 24503755, 24585572, 25007146, 25912315, 26126041, 26343384, 26551623, 26743474, 27656868, 28069272, 28084340, 28291122, 28493366, 29133142, 30297384, 30873845, 31186531, 31729110		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18997735	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	28084340, 33481850, 37974295	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	22260386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26743474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24556940	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27111394	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24832165	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	18327209, 28427232, 30980040	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	23348212, 28558987, 29309300, 33664427, 37228094, 37236926	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10779630		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22260386, 24817979, 27733182, 32818509, 33664427, 36975468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25007146, 31468350	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28291122, 29625594	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	25920939, 26743474		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	31186531		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26365879		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	17376508		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37526028	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37526028	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37526028	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	24145644		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	10521299, 26073604, 29428974	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	10914721, 12112529, 12429635, 15105654, 19915490, 23495723, 29428974, 30856630, 31707588		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	31033435	Inhibit	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11104031, 24122795, 27941797		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10914721, 11972800, 26109171		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24867389, 29551704	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	30134255		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	21934399		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	38236556	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	29924341	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	21057957, 24983247, 25053104, 27635948, 28812319, 28825187, 29119645, 29483606, 30281526, 30642912, 31135077, 31243811		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24305715, 24983247, 28427232, 32122923, 32920865, 33536423, 33608696, 35804041, 36657718, 37966258	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	29119645, 34392582, 36088476	Inhibit	★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	10521299, 15892296, 24478045		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	15175083		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27733182		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	22426308, 23637025, 25169878, 26364901, 31273213, 31530938, 31759698		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG	22426308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	22686875, 25299309, 29309300		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28235567		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32083567	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24286138, 27184481		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23425390, 24286138, 29307989, 30108113	Associate	★☆☆☆☆ Found in Text Mining only
Complement Factor I Deficiency	Complement component deficiency	Pubtator	27101785	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817979, 27733182, 29218250, 29848739		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	25755805		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	25755805	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28945250	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dextrocardia	Dextrocardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	22426308, 23815551, 23906836, 23929686, 25168959		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	19808872		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	29521646		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25920939, 27656868, 28863077, 30683081		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26743474	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27101785, 28863077, 30683081	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	26135561		★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	BEFREE	11547953, 29521646		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	11063814, 26769252		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	38085333	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	28084340		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22868000, 27118264		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	10914721, 15101046		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	18580682		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	31906887	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple meningioma	Multiple Meningioma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial rhabdoid tumor	Rhabdoid Tumor	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24525513		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	24327545, 25912315		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	26769252		★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	19938088		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	32083567	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21613800, 31758409		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21613800, 31758409	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20118769, 21213124, 21240060, 24354918		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24127995, 24354918, 32296843	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21213124, 21240060, 24354918		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26769252		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32420340	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35044082	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	19066270	Associate	★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	19938088		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	26135561		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	28444451		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27632188, 32839151, 37974295	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29907796	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	28084340		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	28084340	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21494030, 24522270		★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	25018128	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	29309300	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	29440190		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	22201954, 27356182, 28966010, 31835848		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29907796		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	29907796	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	28111898		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothalamic hypothyroidism	Hypothalamic hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	27223121		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29907796, 31273213, 31759698		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29907796, 31759698, 34706719	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intracranial Meningioma	Intracranial Meningioma	BEFREE	23401320		★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	BEFREE	31470906		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27733182	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31414282		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27733182	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27733182		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	12429635		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32885893	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	26001331		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	26001331		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10490642	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27460089, 29483235	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12684622, 18266055, 29483235		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18266055		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	30092803		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	26743474, 27562491	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30382607		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31835848		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26285240	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28842574, 39313797	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35506290	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38085333	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18327209	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Central Nervous System Neoplasm	Malignant neoplasm of the central nervous system	BEFREE	23495723		★☆☆☆☆ Found in Text Mining only
Malignant Central Nervous System Neoplasm	Malignant neoplasm of the central nervous system	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	15485613, 17922027, 20179200, 22544318, 25009291, 30216599		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	31445842		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12213194		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25920939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10779630		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26365879		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22490415		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10521299, 10556283, 10738300, 11104031, 12149641, 12213194, 12548550, 15485613, 15769941, 15837618, 15993274, 16301525, 16404435, 16582616, 17040295, 18386774, 18437052, 18710953, 19276269, 19789351, 22544318, 23432645, 23980094, 24072251, 24853101, 25007146, 25018128, 25169151, 25772157, 26001331, 26364901, 27184481, 27267444, 27413115, 27923836, 28302160, 28427232, 28731921, 28825187, 29087303, 29218250, 29258531, 29271065, 29706634, 30216599, 30297384, 30683081, 30753823, 31043611, 31240424, 9671307		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21934399, 22614000, 25912315, 26520417, 27223121, 30864974		★☆☆☆☆ Found in Text Mining only
Malignant Rhabdoid Tumor, Somatic	Malignant Rhabdoid Tumor	CLINGEN_DG	10521299, 10739763, 11095756, 15105654, 16099835, 19124645, 19902524, 23540691		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Rhabdoid Tumor, Somatic	Malignant Rhabdoid Tumor	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Rhabdoid Tumor, Somatic	Malignant Rhabdoid Tumor	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28235567		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	LHGDN	18327209		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	21934399, 26433572		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	10521299, 33331994	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10556283, 10914721, 11972800, 26109171, 29521646		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15761491, 19808872, 25754356, 26135561, 29045843		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23161234, 29045843, 32244797	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10208879, 11161377, 14514925, 15761491, 18236049, 20472658, 20930055, 22038540, 22752724, 24525513, 25754356, 25981829, 28527972, 31653806		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	Pubtator	11161377, 14514925, 15761491, 18087273, 18236049, 28195122, 28759666, 31470906, 35049691	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	ORPHANET_DG	20930055		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	Pubtator	31857543	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningioma	Meningioma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meningiomas, Multiple	Meningioma	BEFREE	19582488, 20472658, 20930055, 22038540, 23154773, 30416484		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15	Mental retardation	UNIPROT_DG	22426308, 22726846, 23906836		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15	Mental retardation	CLINVAR_DG	23906836, 25168959, 26364901		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	31445842		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	19808872		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	27733182		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	17040295		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22426308, 23815551, 23906836, 23929686, 25168959		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11104031		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21494030		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10463572, 21494030		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28581676	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37077082	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasm of the anterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasm of the posterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10208879, 10397258, 10521299, 10602515, 10738300, 10739763, 10779630, 10809224, 10914721, 11161377, 11484819, 11547953, 11782423, 11972800, 12016529, 12082626, 12112529, 12138206, 12149641, 12213194, 12429635, 12507148, 12548550, 12892231, 14604992, 15105654, 15150092, 15168054, 15378398, 15642401, 15735765, 15759130, 15761491, 15769941, 15837618, 15892296, 15899790, 15981100, 15993274, 16195799, 16206192, 16301525, 16337855, 16443951, 16912184, 17152049, 17357086, 17376508, 17541642, 17717433, 17922027, 18072270, 18236049, 18285426, 18317218, 18422762, 18641990, 18647326, 18710953, 18973917, 19221586, 19243895, 19276269, 19480937, 19757197, 19770707, 19789351, 19808872, 19911885, 19915490, 19938088, 20003390, 20137775, 20882288, 20932739, 20951942, 21076395, 21108436, 21127945, 21187175, 21412926, 21521802, 21566521, 21613800, 21637919, 21744471, 21926465, 21934399, 22082607, 22160322, 22210082, 22434358, 22490415, 22534715, 22544318, 22553822, 22614000, 22752724, 22949514, 22994361, 23154773, 23174932, 23197309, 23229642, 23435428, 23495723, 23540691, 23576573, 23816299, 23980094, 24122795, 24127995, 24141276, 24204904, 24284868, 24286138, 24478045, 24525513, 24555876, 24763291, 24807916, 24853101, 24913006, 25007146, 25009291, 25018128, 25053104, 25103069, 25169151, 25246033, 25299309, 25663425, 25739810, 25751458, 25772157, 25912315, 26001331, 26126041, 26171919, 26344637, 26350979, 26364901, 26365879, 26370283, 26433572, 26551623, 26743474, 26799435, 26941181, 26965049, 26998479, 27184481, 27218413, 27223121, 27267444, 27356182, 27442626, 27635948, 27639430, 27732747, 27733182, 27734605, 27921248, 27923836, 28009604, 28069272, 28109176, 28249160, 28291122, 28295212, 28368924, 28434767, 28452074, 28502320, 28521298, 28558987, 28716547, 28722703, 28756981, 28777153, 28789476, 28815340, 28824165, 28863077, 28994108, 29038346, 29068073, 29086074, 29280680, 29384852, 29428974, 29483235, 29532523, 29625594, 30093964, 30111166, 30134255, 30169623, 30178299, 30230537, 30382607, 30397315, 30470167, 30595504, 30656488, 30840885, 30856630, 30864974, 30980040, 31033435, 31043611, 31243811, 31403913, 31444625, 31729110, 31732806, 31835848, 9892189		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	31732806		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	19902524		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10602515		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	10208879, 17357086, 18072270, 18422762, 18647326, 19124645, 20472658, 20854059, 21255467, 22038540, 22082606, 22614000, 22949514, 24362817, 24525513, 24740647, 25739810, 26364901, 26431068, 26520417, 26799435, 28365909, 28368924, 28824165, 29230670, 29384852, 31425178		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	18422762		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15761491, 17570703		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31273213		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10914721, 15101046, 22672440		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	LHGDN	15101046		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	19915490		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	18647326		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	18647326, 30864974		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	11547953, 18072270, 18422762, 20472658, 20729918, 20930055, 22038540, 27921248, 28737257, 29409008, 29761250, 30006736, 31128261, 31425178		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 3	Neurofibromatosis	ORPHANET_DG	17357086, 23401320		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis, Type 3, mixed central and peripheral	Neurofibromatosis	ORPHANET_DG	17357086, 23401320		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23161234, 28084340, 30864974, 33608696, 35361920	Associate	★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	28426098		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24058506	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	15993274		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34984436, 35583077	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26365879		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25103069, 34375311	Associate	★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	12946029		★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	10521299, 29907796	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32868381	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	29119645	Inhibit	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Schwannoma	Peripheral Schwannoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	21926465		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25018128		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	23095836		★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	22672440		★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	19665069, 28181325, 29532523		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	22258529		★☆☆☆☆ Found in Text Mining only
Posterior fossa compression syndrome	Brain stem compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33522043	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24817979, 26773439, 27733182, 28181950, 29848739, 30372389, 30765377		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15837618, 16912184		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	10208879, 10397258, 10416879, 10463572, 10521299, 10602515, 10607907, 10738300, 10739763, 10779630, 10914721, 11547953, 11550309, 11782395, 11782423, 11921280, 12112529, 12213194, 12429635, 12548550, 14604992, 15101046, 15150092, 15168054, 15378398, 15489652, 15721633, 15761491, 15769941, 15899790, 16206192, 16261613, 16288006, 16301525, 16704491, 16912184, 17040295, 17376508, 17486366, 17541642, 17603804, 17699849, 17717433, 17922027, 17929989, 18317218, 18437052, 18580682, 18973917, 19124645, 19221586, 19243895, 19276269, 19770707, 19902524, 20003390, 20137775, 20179200, 20212451, 21076395, 21108436, 21208904, 21521802, 21613800, 21666498, 21775180, 22544318, 22614000, 22814326, 22949514, 23060122, 23063575, 23074045, 23084579, 23154773, 23197309, 23364536, 23432645, 23620515, 23900077, 24122795, 24204904, 24284868, 24287458, 24327545, 24418192, 24740647, 24807916, 24853101, 24933152, 25009291, 25018128, 25053104, 25169151, 25246033, 25312828, 25387058, 25468731, 25494491, 25663425, 25751458, 25754356, 26073604, 26342593, 26343384, 26365879, 26370283, 26646792, 26769252, 26977886, 27092963, 27184481, 27223121, 27267444, 27356182, 27380723, 27656868, 27734605, 27923836, 28108836, 28109176, 28426098, 28427232, 28521298, 28722703, 28824165, 28966010, 29141209, 29280680, 29374542, 29625594, 29684361, 30230537, 30479569, 30753823, 30755442, 30856630, 31015438, 31034722, 31160308, 31340851, 31707588, 31708418, 31708437, 31718365, 31835848, 9892189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid Tumor	CLINGEN_DG	10521299, 10739763, 11095756, 15105654, 16099835, 19124645, 19902524, 23540691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	10521299, 10607907, 10739763, 11161377, 11782423, 12138206, 14514925, 15761491, 15769941, 16687525, 18997735, 19276269, 21108436, 21208904, 21319312, 21613800, 21666498, 21871868, 22997201, 23364536, 23425390, 24284868, 24287458, 24418192, 24807916, 24993038, 25009291, 25494491, 26073604, 26646792, 26977886, 27267444, 27380723, 27639430, 27783942, 27866340, 27941797, 28084340, 28521298, 28722703, 31015438, 31912158, 32083567, 32122923, 32218533, 32244797, 32602741, 32839151, 32885893, 33481850, 33608696, 34003336, 35534016, 35537449, 35583077, 35804041, 36657718, 38040699, 39412932	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid Tumor	LHGDN	11782395, 11921280, 12548550, 15101046, 15489652, 15761491, 15796965, 16528370, 17376508, 17486366, 18087273, 18262058, 18580682, 18973917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	14604992, 16528370, 16945155, 17376508, 18327209, 18332116, 20003390, 20137775, 20212451, 22797305, 23382118, 25018128, 27338635, 27632188, 28427232, 28945250, 29141209, 29625594, 31708418, 32087612, 32558936, 36088476	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid Tumor	CTD_human_DG	25009291, 26343384		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid Tumor	Rhabdoid Tumor	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdoid tumor predisposition syndrome	Rhabdoid Tumor Predisposition Syndrome	ORPHANET_DG	10521299		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rhabdoid tumor predisposition syndrome	Rhabdoid Tumor Predisposition Syndrome	BEFREE	12016529, 12892231, 12946029, 16206192, 18087273, 20137775, 21208904, 24853101, 26342593, 29512865, 29779243		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	10521299, 15779233, 16687525, 18087273, 20137775, 20925002, 21208904, 23510391, 25494491, 26998479, 28722703, 29512865, 29907796, 31912158, 38236556	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	33532948	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)	Rhabdoid tumor predisposition syndrome	CLINVAR_DG	10521299, 18647326, 20848638, 21108436, 21208904, 22426308, 23815551, 23929686, 24933152, 26998479		★☆☆☆☆ Found in Text Mining only
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)	Rhabdoid tumor predisposition syndrome	CLINGEN_DG	10521299, 10739763, 11095756, 15105654, 16099835, 19124645, 19902524, 23540691		★☆☆☆☆ Found in Text Mining only
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)	Rhabdoid tumor predisposition syndrome	GENOMICS_ENGLAND_DG	12016529, 22426308		★☆☆☆☆ Found in Text Mining only
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)	Rhabdoid tumor predisposition syndrome	BEFREE	25262118, 29779243		★☆☆☆☆ Found in Text Mining only
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)	Rhabdoid tumor predisposition syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10602515, 30111166		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	23161234	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	32087612	Inhibit	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	39334946	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	15761491, 18580682, 18997735, 23084579, 24585572, 26135561, 27223121, 29761250, 30111166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	15899790, 18973917, 18997735, 19141382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	18327209, 18997735, 23161234, 32264965, 34974552, 35804041, 39491746	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	20003390, 21357725, 23060122, 23174932, 23774169, 24585572, 26965049, 27045049, 28084340, 28945250, 30111166, 32461620, 33608696, 35537449, 35839307, 36088476, 37228094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	23161234	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	22868000, 23161234	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	20305614, 23161234	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	24131748, 26045850, 30397315	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	15899790, 18973917, 19335024, 19342946, 20932739, 21083605, 21357725, 21566521, 21934399, 22192800, 23060122, 23174932, 23576573, 24287458, 24327545, 24585572, 25651469, 25754356, 25912315, 26645461, 26965049, 27184481, 27223121, 28084340, 28109176, 28427232, 29280680, 29309303, 31331120, 31615564		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	BEFREE	17357086, 18072270, 18285426, 18422762, 18647326, 19124645, 19582488, 19912265, 20003390, 20472658, 20729918, 20930055, 21108436, 21255467, 22038540, 22082606, 22434358, 22752724, 22949514, 23622184, 24362817, 24525513, 24740647, 24763291, 24933152, 25480913, 25631985, 26001331, 26073604, 26364901, 26431068, 26799435, 27921248, 28365909, 29230670, 29384852, 29397238, 29409008, 29779243, 30006736, 30092803, 30576819, 31128261, 31240424, 31329710, 31425178		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	ORPHANET_DG	17357086, 23401320		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	Pubtator	17357086, 18422762, 19124645, 20003390, 21108436, 21255467, 22949514, 24362817, 24443315, 26073604, 29384852, 29907796, 30092803, 31424590, 32281771, 33025139, 35361920, 35446994, 35732500, 36363549	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	GENOMICS_ENGLAND_DG	18285426		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	CTD_human_DG	24362817		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwannomatosis	Schwannomatosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCHWANNOMATOSIS 1	Schwannomatosis	CTD_human_DG	24362817		★☆☆☆☆ Found in Text Mining only
SCHWANNOMATOSIS 1	Schwannomatosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	29907796		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	29334836		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	12429635, 15489652, 24585572		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	23637025		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	18285426		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25007146, 29625594, 30216599		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	27223121		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22490415, 30504402		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	40275321	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23196062, 33481850	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	25912315, 26520417, 27118264, 27223121, 27391784, 28579008, 29280680, 29861296, 30397315		★☆☆☆☆ Found in Text Mining only
Teratoid Tumor, Atypical	Teratoid Tumor	CLINGEN_DG	10521299, 10739763, 11095756, 15105654, 16099835, 19124645, 19902524, 23540691		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teratoid Tumor, Atypical	Teratoid Tumor	BEFREE	10738300, 9892189		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Thymoma	BEFREE	26045850		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	31248021	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25494491		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	27184481		★☆☆☆☆ Found in Text Mining only
Type 1 Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	26799435		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	25007146, 25920939, 27656868, 28084340		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	25018128	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32073734	Inhibit	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	BEFREE	28974397		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24525513		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	BEFREE	18317218		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	36720509	Associate	★☆☆☆☆ Found in Text Mining only