BCL11A (BCL11 transcription factor A)

Gene

• Entrez ID: 53335
• Gene name: BCL11 transcription factor A
• Gene symbol: BCL11A
• Synonyms (NCBI Gene): CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, throug

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11886868	C>T	Likely-pathogenic, benign	Intron variant
rs761909641	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs768799046	->G,GGGG,GGGTTTTGAAGGGGGGGGGGGGGGGG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886037864	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886037865	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886037866	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs886037867	->ACC	Pathogenic	Coding sequence variant, inframe insertion, intron variant
rs886037868	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs1057524042	G>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, stop gained
rs1303665345	C>A,G	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1553352926	A>G	Pathogenic	Splice donor variant
rs1553353022	C>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1553353092	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1553354668	->TTGCTTGC	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1553403049	CTCGGCC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553403363	->TGTG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553403551	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553403688	AGGGATACCAA>-	Pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant
rs1553403736	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553403745	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558519119	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1558519731	C>G	Likely-pathogenic	Upstream transcript variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs1558612412	GGCAGGGCGCGGCTCTCGTCGCCCACGCCCA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1572967548	GGAGG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1573096202	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019481	hsa-miR-148b-3p	Microarray	17612493
MIRT019603	hsa-miR-340-5p	Sequencing	20371350
MIRT020396	hsa-miR-29c-3p	Sequencing	20371350
MIRT026052	hsa-miR-196a-5p	Sequencing	20371350
MIRT028335	hsa-miR-32-5p	Sequencing	20371350
MIRT053329	hsa-miR-486-3p	Luciferase reporter assay, qRT-PCR, Western blot	23593217
MIRT054585	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	23758992
MIRT054585	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	23758992
MIRT529157	hsa-miR-3936	PAR-CLIP	22012620
MIRT529156	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT529155	hsa-miR-92a-1-5p	PAR-CLIP	22012620
MIRT089000	hsa-miR-2110	PAR-CLIP	22012620
MIRT529154	hsa-miR-6810-5p	PAR-CLIP	22012620
MIRT529153	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT529152	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT529151	hsa-miR-6857-5p	PAR-CLIP	22012620
MIRT088998	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT731890	hsa-miR-138-5p	Luciferase reporter assay, Next Generation Sequencing (NGS), qRT-PCR, RNA-binding protein immunoprecipitation, Western blot	28303002
MIRT731890	hsa-miR-138-5p	Luciferase reporter assay, Next Generation Sequencing (NGS), qRT-PCR, RNA-binding protein immunoprecipitation, Western blot	28303002
MIRT735688	hsa-miR-92a-3p	Microarray	32006661
MIRT529157	hsa-miR-3936	PAR-CLIP	22012620
MIRT529156	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT529155	hsa-miR-92a-1-5p	PAR-CLIP	22012620
MIRT089000	hsa-miR-2110	PAR-CLIP	22012620
MIRT529154	hsa-miR-6810-5p	PAR-CLIP	22012620
MIRT529153	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT529152	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT529151	hsa-miR-6857-5p	PAR-CLIP	22012620
MIRT088998	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT818160	hsa-miR-148a	CLIP-seq
MIRT818161	hsa-miR-148b	CLIP-seq
MIRT818162	hsa-miR-152	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818164	hsa-miR-183	CLIP-seq
MIRT818165	hsa-miR-214	CLIP-seq
MIRT818166	hsa-miR-302a	CLIP-seq
MIRT818167	hsa-miR-302b	CLIP-seq
MIRT818168	hsa-miR-302c	CLIP-seq
MIRT818169	hsa-miR-302d	CLIP-seq
MIRT818170	hsa-miR-302e	CLIP-seq
MIRT818171	hsa-miR-3119	CLIP-seq
MIRT818172	hsa-miR-3128	CLIP-seq
MIRT818173	hsa-miR-3140-3p	CLIP-seq
MIRT818174	hsa-miR-3148	CLIP-seq
MIRT818175	hsa-miR-3158-3p	CLIP-seq
MIRT818176	hsa-miR-3166	CLIP-seq
MIRT818177	hsa-miR-323-3p	CLIP-seq
MIRT818178	hsa-miR-3613-3p	CLIP-seq
MIRT818179	hsa-miR-3619-5p	CLIP-seq
MIRT818180	hsa-miR-3652	CLIP-seq
MIRT818181	hsa-miR-372	CLIP-seq
MIRT818182	hsa-miR-373	CLIP-seq
MIRT818183	hsa-miR-3941	CLIP-seq
MIRT818184	hsa-miR-3976	CLIP-seq
MIRT818185	hsa-miR-4276	CLIP-seq
MIRT818186	hsa-miR-4430	CLIP-seq
MIRT818187	hsa-miR-4470	CLIP-seq
MIRT818188	hsa-miR-4505	CLIP-seq
MIRT818189	hsa-miR-450b-5p	CLIP-seq
MIRT818190	hsa-miR-4643	CLIP-seq
MIRT818191	hsa-miR-466	CLIP-seq
MIRT818192	hsa-miR-4672	CLIP-seq
MIRT818193	hsa-miR-4685-5p	CLIP-seq
MIRT818194	hsa-miR-4771	CLIP-seq
MIRT818195	hsa-miR-4789-3p	CLIP-seq
MIRT818196	hsa-miR-507	CLIP-seq
MIRT818197	hsa-miR-520a-3p	CLIP-seq
MIRT818198	hsa-miR-520b	CLIP-seq
MIRT818199	hsa-miR-520c-3p	CLIP-seq
MIRT818200	hsa-miR-520d-3p	CLIP-seq
MIRT818201	hsa-miR-520e	CLIP-seq
MIRT818202	hsa-miR-548a-3p	CLIP-seq
MIRT818203	hsa-miR-548ae	CLIP-seq
MIRT818204	hsa-miR-548aj	CLIP-seq
MIRT818205	hsa-miR-548am	CLIP-seq
MIRT818206	hsa-miR-548e	CLIP-seq
MIRT818207	hsa-miR-548f	CLIP-seq
MIRT818208	hsa-miR-548x	CLIP-seq
MIRT818209	hsa-miR-549	CLIP-seq
MIRT818210	hsa-miR-557	CLIP-seq
MIRT818211	hsa-miR-561	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT818213	hsa-miR-761	CLIP-seq
MIRT818214	hsa-miR-885-3p	CLIP-seq
MIRT1920282	hsa-miR-4289	CLIP-seq
MIRT1920282	hsa-miR-4289	CLIP-seq
MIRT1922590	hsa-miR-4282	CLIP-seq
MIRT1941841	hsa-miR-3925-5p	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818174	hsa-miR-3148	CLIP-seq
MIRT818176	hsa-miR-3166	CLIP-seq
MIRT818178	hsa-miR-3613-3p	CLIP-seq
MIRT818194	hsa-miR-4771	CLIP-seq
MIRT818209	hsa-miR-549	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT2484189	hsa-miR-142-5p	CLIP-seq
MIRT2484190	hsa-miR-2355-5p	CLIP-seq
MIRT2484191	hsa-miR-297	CLIP-seq
MIRT2484192	hsa-miR-29a	CLIP-seq
MIRT2484193	hsa-miR-29b	CLIP-seq
MIRT2484194	hsa-miR-29c	CLIP-seq
MIRT2484195	hsa-miR-340	CLIP-seq
MIRT2484196	hsa-miR-4307	CLIP-seq
MIRT2484197	hsa-miR-4422	CLIP-seq
MIRT2484198	hsa-miR-4799-5p	CLIP-seq
MIRT2484199	hsa-miR-567	CLIP-seq
MIRT2484200	hsa-miR-767-5p	CLIP-seq
MIRT2484190	hsa-miR-2355-5p	CLIP-seq
MIRT2484191	hsa-miR-297	CLIP-seq
MIRT2484196	hsa-miR-4307	CLIP-seq
MIRT2484199	hsa-miR-567	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXQ1	Activation	20145154
SIRT1	Repression	15639232

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16704730, 19153051, 29606353
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19153051
GO:0001067	Function	Transcription regulatory region nucleic acid binding	IDA	29606353
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16704730, 19153051
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003712	Function	Transcription coregulator activity	IDA	29606353
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19616629
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	19616629
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IDA	19616629
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19616629
GO:0016363	Component	Nuclear matrix	IEA
GO:0016514	Component	SWI/SNF complex	IDA	23644491
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS	19616629
GO:0032463	Process	Negative regulation of protein homooligomerization	IC	19616629
GO:0042382	Component	Paraspeckles	IDA	16704730
GO:0042803	Function	Protein homodimerization activity	IPI	16704730
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	19616629
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	19616629
GO:0048671	Process	Negative regulation of collateral sprouting	IMP	19616629
GO:0048672	Process	Positive regulation of collateral sprouting	IMP	19616629
GO:0050773	Process	Regulation of dendrite development	IMP	19616629
GO:0098794	Component	Postsynapse	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16704730
GO:1903860	Process	Negative regulation of dendrite extension	IEA
GO:1904800	Process	Negative regulation of neuron remodeling	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000171	Process	Negative regulation of dendrite development	IBA
GO:2000171	Process	Negative regulation of dendrite development	IEA
GO:2000171	Process	Negative regulation of dendrite development	IMP	19616629
GO:2000173	Process	Negative regulation of branching morphogenesis of a nerve	IEA

Other IDs

• MIM: 606557
• HGNC: 13221
• e!Ensembl: ENSG00000119866

Protein

• UniProt ID: Q9H165
• Protein name: BCL11 transcription factor A (B-cell CLL/lymphoma 11A) (B-cell lymphoma/leukemia 11A) (BCL-11A) (COUP-TF-interacting protein 1) (Ecotropic viral integration site 9 protein homolog) (EVI-9) (Zinc finger protein 856)
• Protein function: Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a
• PDB: 5VTB, 6KI6, 6U9Q, 8DTN, 8DTU, 8THO, 8TLO, 9B4P, 9BV0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	378 → 399	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	405 → 427	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	742 → 764	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	770 → 792	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	800 → 823	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. {ECO:000026
• Sequence:

  MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDI
  LIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQVTPEDDDCLSTSSRGI
  CPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFT
  SAWFLLQHAQNTHGLRIYLESEHGSPLTPRVGIPSGLGAECPSQPPLHGIHIADNNPFNL
  LRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRV
  LRLNPMAMEPPAMDFSRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPL
  PPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKL
  KRHMKTHMHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIP
  ENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHHENSSRGAVVGVGDES
  RALPDVMQGMVLSSMQHFSEAFHQVLGEKHKRGHLAEAEGHRDTCDEDSVAGESDRIDDG
  TVNGRGCSPGESASGGLSKKLLLGSPSSLSPFSKRIKLEKEFDLPPAAMPNTENVYSQWL
  AGYAASRQLKDPFLSFGDSRQSPFASSSEHSSENGSLRFSTPPGELDGGISGRSGTGSGG
  STPHISGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACA
  QSSKLTRHMKTHGQVGKDVYKCEICKMPFSVYSTLEKHMKKWHSDRVLNNDIKTE

• Sequence length: 835

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
BCL11A-related BAFopathy	Pathogenic; Likely pathogenic	rs2103845910, rs2103863117, rs1446265434	RCV001533074 RCV001533073 RCV001533072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BCL11A-related disorder	Likely pathogenic	rs2466269611	RCV003909351	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1558519119	RCV000779633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1558612412, rs1558519119	RCV001257951 RCV001257952	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs1558519119	RCV000779633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic	rs1670145015	RCV001093607	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dias-Logan syndrome	Likely pathogenic; Pathogenic	rs1382819519, rs2103841359, rs2103850075, rs2103850595, rs2103830741, rs2104801406, rs2104801226, rs1573109761, rs2467282402, rs2466259921, rs886037864, rs886037865, rs886037866, rs886037867, rs886037868, rs2466230694, rs2466231694, rs2467282457, rs2466254913, rs2466234128, rs2466269611, rs371309905, rs1676302520, rs2467281469, rs2467277992, rs761909641, rs768799046, rs1553403736, rs1553352926, rs1553353022, rs1558612412, rs1558519119, rs1489297664, rs770356174, rs1670131098, rs2466267591	RCV001650501 RCV001724759 RCV001733404 RCV001814941 RCV001839088 RCV002227008 RCV002250439 RCV002272726 RCV002289027 RCV002468846 RCV000239897 RCV000240280 RCV000240572 RCV000240288 RCV000240553 RCV003226071 RCV003307366 RCV003314123 RCV003387573 RCV003445449 RCV004584149 RCV003883355 RCV004006211 RCV004594825 RCV004595381 RCV005252911 RCV001252432 RCV000856831 RCV000825006 RCV000677683 RCV000779632 RCV000779633 RCV001034614 RCV001253624 RCV005626382 RCV004796400 RCV001270412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs2466223874	RCV001255382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1670493597, rs1676326365	RCV001249494 RCV001261386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1553353022	RCV000850480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1573109761, rs2103860886, rs768799046	RCV002274254 RCV002274419 RCV002274040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly	Pathogenic	rs1670145015	RCV001093607	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA WITH T, E2A-PBX1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCL11A-related intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA THALASSEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal hemoglobin quantitative trait locus 5	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBIN E DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 45	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICKLE CELL ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20578197		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	29469608		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	26707798		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	26707798		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30127402		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	19696200	Associate	★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	19696200, 24581976		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	19696200, 24581976		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30180184	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	23361909		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	29879141	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	18245381, 18667698, 21068433, 22139998, 22801970, 24667352, 25084696, 25703683, 26393293, 26849705, 26888013, 27077760, 27377501, 27838552, 28280727, 28332727, 29437638, 29879141, 30768627, 30911135, 32631379, 33283990, 34069401, 34570224, 34634037, 34706496, 35303690, 36522432, 39209956, 40613211, 40665149	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	18667698, 18691915, 19344402, 20472475, 21057501, 21998251, 25263325, 25703683, 26393293, 27077760, 27377501, 27599293, 28332727, 29879141, 30768627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	LHGDN	18691915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell	Anemia	GWASCAT_DG	21326311, 23406172, 25042611, 25372704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia of Phonation	Apraxia	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	24810580		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Apraxia, Oral	Apraxia	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Apraxia, Verbal	Apraxia	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CTD_human_DG	27120335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	Pubtator	27120335, 28960836	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	BEFREE	28960836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24213554	Associate	★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25938782	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30755392, 36807877	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	16871282		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18367492, 23361909, 24961604, 28225775, 28544358, 30768627, 31312380, 31362654		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	11986957, 24961604, 28544358		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30410027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	BEFREE	18245381, 20472475, 20712774, 21068433, 23541515, 27377501, 29186860, 31039344, 31115947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	18245381, 21068433, 21385855, 21791466, 22271886, 22801970, 25842369, 27009595, 27377501, 29186860, 29606353, 30768627, 31115947, 34091621, 34398996, 34634037, 36522432, 36639729, 37796993, 37989316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	beta Thalassemia	LHGDN	18691915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta^+^ Thalassemia	beta Thalassemia	BEFREE	18245381, 20472475, 20712774, 21068433, 23541515, 27377501, 29186860, 31039344, 31115947		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	27285855		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29179465, 29263092, 31114347		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29263092, 29975921, 32576660, 35617355, 37684436	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	15241441	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29975921, 37548553	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	36030436	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37372998	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30870006		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28868518		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11986957, 17053054, 17638669, 23432949, 24961604, 28544358		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30965648		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	25979662		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29044125		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25938782, 30250039, 30755392, 34634037	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19833888, 21296741	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18714373, 19833888, 21296741, 21445555, 22113416, 22825589, 25273842, 26290879, 26599349	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21296741, 21445555, 21643948, 22113416, 22825589, 26599349, 31654056		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16734728		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	24810580		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	24810580		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10744719, 11161790, 11347906, 12196208, 12717432, 15465497, 15548577, 16704730, 17021036, 17964244, 19616629, 20623620, 22491945, 22542183, 23230003, 24267886, 24810580, 25363760, 25533962, 25938782, 25979662, 26182416, 27453576, 28589569, 28960836		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28589569		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis	Eosinophilia	BEFREE	24581976		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28589569		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28589569		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	39209956	Associate	★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	24581976		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	35504960	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	35872944	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30250039		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease 0 Muscle	Glycogen storage disease	Pubtator	26771086	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27377501	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34714913	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	16704730		★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	18245381, 29437638, 33091040	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin E disease	Hemoglobin E Disease	GWASCAT_DG	20183929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobin F Disease	Hemoglobinopathy	BEFREE	30355263		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	18245381, 19056937		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	26603726, 26840243, 32576837, 33938942	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	32563256	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11719382		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	11830502		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11830502, 19096012	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30124006		★☆☆☆☆ Found in Text Mining only
Ideational Apraxia	Apraxia	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	30755392	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	27599293		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27453576		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18714373	Associate	★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	UNIPROT_DG	27453576, 30250039		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25533962		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	27453576, 28589569		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30122582, 30250039, 30362171	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	18948576		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	CTD_human_DG	27120335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	30250039	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23860324, 28225775		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10757802, 11161790, 15104287, 18948576, 22427200, 23758992, 26707798		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	34714913	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34714913	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22427200, 26707798, 29469608		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	18948576		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24213554	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28225775	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11986957, 22890838, 23758992		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	12406872		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	30124006		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29179465, 29263092, 31114347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21445555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27573292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11719382, 11986957, 16704730, 24961604, 29975921, 30127402, 31114347		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	33938942	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26599349		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	27453576		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	10757802, 11161790		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27285855		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18948576, 27285855, 29975921, 31114347		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	26019277	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30077189		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35909289	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25938782, 27453576		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	18948576		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23758992, 30779076		★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	26599349	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21445555		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21445555, 35571561	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28544358		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20578197		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27573292		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33279858	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25938782, 28694195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	25938782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	25938782	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	24667352	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28225775	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30127402		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	26888013	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	33990643, 40665149	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	40448206	Inhibit	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	19696200		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	16619048		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28474731, 29263092, 29975921, 31649243, 32576660, 36030436, 37548553, 40328966	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29263092, 29975921, 30083277, 30237308		★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	32563256	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	30362171	Associate	★☆☆☆☆ Found in Text Mining only