FOXP2 (forkhead box P2)

Gene

• Entrez ID: 93986
• Gene name: Forkhead box P2
• Gene symbol: FOXP2
• Synonyms (NCBI Gene): CAGH44, SPCH1, TNRC10
• Chromosome: 7
• Chromosome location: 7q31.1
• Summary: This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908377	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs121908378	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs199581885	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201343293	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs786200976	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879253772	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1064793842	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1135401820	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1178491246	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, synonymous variant, intron variant
rs1554412300	T>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554440661	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554440713	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs1554441663	ATAA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1563045683	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1563047452	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1584969672	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT537314	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT537313	hsa-miR-4422	PAR-CLIP	22012620
MIRT537312	hsa-miR-548p	PAR-CLIP	22012620
MIRT537311	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT537310	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT537314	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT537313	hsa-miR-4422	PAR-CLIP	22012620
MIRT537312	hsa-miR-548p	PAR-CLIP	22012620
MIRT537311	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT537310	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT1003413	hsa-miR-1206	CLIP-seq
MIRT1003414	hsa-miR-1305	CLIP-seq
MIRT1003415	hsa-miR-141	CLIP-seq
MIRT1003416	hsa-miR-196a	CLIP-seq
MIRT1003417	hsa-miR-196b	CLIP-seq
MIRT1003418	hsa-miR-19a	CLIP-seq
MIRT1003419	hsa-miR-19b	CLIP-seq
MIRT1003420	hsa-miR-200a	CLIP-seq
MIRT1003421	hsa-miR-214	CLIP-seq
MIRT1003422	hsa-miR-25	CLIP-seq
MIRT1003423	hsa-miR-32	CLIP-seq
MIRT1003424	hsa-miR-330-3p	CLIP-seq
MIRT1003425	hsa-miR-3545-3p	CLIP-seq
MIRT1003426	hsa-miR-3619-5p	CLIP-seq
MIRT1003427	hsa-miR-363	CLIP-seq
MIRT1003428	hsa-miR-367	CLIP-seq
MIRT1003429	hsa-miR-3671	CLIP-seq
MIRT1003430	hsa-miR-3689d	CLIP-seq
MIRT1003431	hsa-miR-4325	CLIP-seq
MIRT1003432	hsa-miR-4328	CLIP-seq
MIRT1003433	hsa-miR-4443	CLIP-seq
MIRT1003434	hsa-miR-4463	CLIP-seq
MIRT1003435	hsa-miR-4490	CLIP-seq
MIRT1003436	hsa-miR-4494	CLIP-seq
MIRT1003437	hsa-miR-4774-5p	CLIP-seq
MIRT1003438	hsa-miR-4777-3p	CLIP-seq
MIRT1003439	hsa-miR-548l	CLIP-seq
MIRT1003440	hsa-miR-548n	CLIP-seq
MIRT1003441	hsa-miR-570	CLIP-seq
MIRT1003442	hsa-miR-590-3p	CLIP-seq
MIRT1003443	hsa-miR-607	CLIP-seq
MIRT1003444	hsa-miR-634	CLIP-seq
MIRT1003445	hsa-miR-646	CLIP-seq
MIRT1003446	hsa-miR-671-5p	CLIP-seq
MIRT1003447	hsa-miR-761	CLIP-seq
MIRT1003448	hsa-miR-92a	CLIP-seq
MIRT1003449	hsa-miR-92b	CLIP-seq
MIRT1003450	hsa-miR-1275	CLIP-seq
MIRT1003451	hsa-miR-1276	CLIP-seq
MIRT1003452	hsa-miR-1297	CLIP-seq
MIRT1003453	hsa-miR-26a	CLIP-seq
MIRT1003454	hsa-miR-26b	CLIP-seq
MIRT1003455	hsa-miR-3148	CLIP-seq
MIRT1003456	hsa-miR-3173-3p	CLIP-seq
MIRT1003424	hsa-miR-330-3p	CLIP-seq
MIRT1003457	hsa-miR-3529	CLIP-seq
MIRT1003458	hsa-miR-3665	CLIP-seq
MIRT1003430	hsa-miR-3689d	CLIP-seq
MIRT1003459	hsa-miR-379	CLIP-seq
MIRT1003460	hsa-miR-3927	CLIP-seq
MIRT1003461	hsa-miR-4311	CLIP-seq
MIRT1003432	hsa-miR-4328	CLIP-seq
MIRT1003433	hsa-miR-4443	CLIP-seq
MIRT1003462	hsa-miR-4457	CLIP-seq
MIRT1003463	hsa-miR-4465	CLIP-seq
MIRT1003464	hsa-miR-4525	CLIP-seq
MIRT1003465	hsa-miR-4665-5p	CLIP-seq
MIRT1003466	hsa-miR-4668-5p	CLIP-seq
MIRT1003467	hsa-miR-4711-5p	CLIP-seq
MIRT1003468	hsa-miR-4723-5p	CLIP-seq
MIRT1003469	hsa-miR-4780	CLIP-seq
MIRT1003470	hsa-miR-513b	CLIP-seq
MIRT1003439	hsa-miR-548l	CLIP-seq
MIRT1003440	hsa-miR-548n	CLIP-seq
MIRT1003471	hsa-miR-582-5p	CLIP-seq
MIRT1003472	hsa-miR-583	CLIP-seq
MIRT1003443	hsa-miR-607	CLIP-seq
MIRT1003473	hsa-miR-623	CLIP-seq
MIRT1003474	hsa-miR-625	CLIP-seq
MIRT1003475	hsa-miR-657	CLIP-seq
MIRT1003476	hsa-miR-1257	CLIP-seq
MIRT1003477	hsa-miR-1279	CLIP-seq
MIRT1003478	hsa-miR-197	CLIP-seq
MIRT1003479	hsa-miR-203	CLIP-seq
MIRT1003480	hsa-miR-30a	CLIP-seq
MIRT1003481	hsa-miR-30b	CLIP-seq
MIRT1003482	hsa-miR-30c	CLIP-seq
MIRT1003483	hsa-miR-30d	CLIP-seq
MIRT1003484	hsa-miR-30e	CLIP-seq
MIRT1003485	hsa-miR-3136-5p	CLIP-seq
MIRT1003486	hsa-miR-3647-3p	CLIP-seq
MIRT1003487	hsa-miR-374c	CLIP-seq
MIRT1003488	hsa-miR-380	CLIP-seq
MIRT1003489	hsa-miR-4439	CLIP-seq
MIRT1003490	hsa-miR-4513	CLIP-seq
MIRT1003491	hsa-miR-4757-5p	CLIP-seq
MIRT1003492	hsa-miR-4760-5p	CLIP-seq
MIRT1003493	hsa-miR-522	CLIP-seq
MIRT1003494	hsa-miR-655	CLIP-seq
MIRT1003462	hsa-miR-4457	CLIP-seq
MIRT2231140	hsa-miR-4729	CLIP-seq
MIRT2231141	hsa-miR-501-3p	CLIP-seq
MIRT2231142	hsa-miR-502-3p	CLIP-seq
MIRT1003470	hsa-miR-513b	CLIP-seq
MIRT2231143	hsa-miR-513c	CLIP-seq
MIRT2231144	hsa-miR-514b-5p	CLIP-seq
MIRT2231145	hsa-miR-617	CLIP-seq
MIRT2231146	hsa-miR-935	CLIP-seq
MIRT1003479	hsa-miR-203	CLIP-seq
MIRT2681147	hsa-miR-433	CLIP-seq
MIRT2681148	hsa-miR-586	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU3F2	Unknown	23197593

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003677	Function	DNA binding	IDA	16407075
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	18987363
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	19907493, 21653829, 24722188, 24893771, 25027557, 25416956, 25609649, 25853299, 26647308, 27107012, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021757	Process	Caudate nucleus development	IMP	11872605
GO:0021758	Process	Putamen development	IMP	11872605
GO:0021987	Process	Cerebral cortex development	IEP	18987363
GO:0030324	Process	Lung development	IEA
GO:0042297	Process	Vocal learning	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16407075, 24893771, 25609649
GO:0042803	Function	Protein homodimerization activity	IDA	16407075
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	18987363
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	18987363
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060013	Process	Righting reflex	IEA
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0071625	Process	Vocalization behavior	IEA

Other IDs

• MIM: 605317
• HGNC: 13875
• e!Ensembl: ENSG00000128573

Protein

• UniProt ID: O15409
• Protein name: Forkhead box protein P2 (CAG repeat protein 44) (Trinucleotide repeat-containing gene 10 protein)
• Protein function: Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress tra
• PDB: 2A07, 2AS5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16159	FOXP-CC	342 → 410	FOXP coiled-coil domain	Domain
  PF00250	Forkhead	503 → 584	Forkhead domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung. {ECO:0000269|PubMed:12189486}.
• Sequence:

  MMQESATETISNSSMNQNGMSTLSSQLDAGSRDGRSSGDTSSEVSTVELLHLQQQQALQA
  ARQLLLQQQTSGLKSPKSSDKQRPLQVPVSVAMMTPQVITPQQMQQILQQQVLSPQQLQA
  LLQQQQAVMLQQQQLQEFYKKQQEQLHLQLLQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
  QQQQQQQQQQQHPGKQAKEQQQQQQQQQQLAAQQLVFQQQLLQMQQLQQQQHLLSLQRQG
  LISIPPGQAALPVQSLPQAGLSPAEIQQLWKEVTGVHSMEDNGIKHGGLDLTTNNSSSTT
  SSNTSKASPPITHHSIVNGQSSVLSARRDSSSHEETGASHTLYGHGVCKWPGCESICEDF
  GQFLKHLNNEHALDDRSTAQCRVQMQVVQQLEIQLSKERERLQAMMTHLHMRPSEPKPSP
  KPLNLVSSVTMSKNMLETSPQSLPQTPTTPTAPVTPITQGPSVITPASVPNVGAIRRRHS
  DKYNIPMSSEIAPNYEFYKNADVRPPFTYATLIRQAIMESSDRQLTLNEIYSWFTRTFAY
  FRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVEYQKRRSQKITGSPTLVKNIPT
  SLGYGAALNASLQAALAESSLPLLSNPGLINNASSGLLQAVHEDLNGSLDHIDSNGNSSP
  GCSPQPHIHSIHVKEEPVIAEDEDCPMSLVTTANHSPELEDDREIEEEPLSEDLE

• Sequence length: 715

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
Childhood apraxia of speech	Pathogenic; Likely pathogenic	rs1347299046, rs2129327570, rs1474090446, rs2129341954, rs1349250538, rs2485480857, rs121908377, rs121908378, rs2485493224, rs2485474457, rs1135401820, rs1178491246, rs1584969672	RCV001376007 RCV001420149 RCV001449595 RCV001449600 RCV001563653 RCV002291146 RCV000005371 RCV000005372 RCV003311583 RCV004594958 RCV000496173 RCV000754787 RCV000995771	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOXP2-related disorder	Likely pathogenic; Pathogenic	rs121908377, rs2485386367, rs2485480571	RCV005428989 RCV003408469 RCV003414406	★★★★☆ 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
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIA, DEVELOPMENTAL VERBAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APRAXIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUSSELL-SILVER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SILVER-RUSSELL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
7q31 microdeletion syndrome	7q31 microdeletion syndrome	ORPHANET_DG	17330859, 22144704		★☆☆☆☆ Found in Text Mining only
7q31 microdeletion syndrome	7q31 microdeletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15198736		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29141872		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	36328423	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	CTD_human_DG	17033973, 27120335		★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	BEFREE	22106036, 30104377		★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	GENOMICS_ENGLAND_DG	11586359, 15326624, 15877281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Developmental Verbal	Apraxia	ORPHANET_DG	11586359, 15877281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Developmental Verbal	Apraxia	CLINVAR_DG	11586359, 15877281, 20858596, 23918746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Developmental Verbal	Apraxia	UNIPROT_DG	11586359, 25232744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Developmental Verbal	Apraxia	BEFREE	15877281, 16984964, 17033973, 20571508, 20848658, 20858596, 20950788, 22144704, 22434823, 22766611, 22909774, 23918746, 24214399, 28741757, 29920554, 30187194, 30294994, 30796815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Developmental Verbal	Apraxia	CTD_human_DG	17033973, 27120335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxia, Oral	Apraxia	CTD_human_DG	17033973, 27120335		★☆☆☆☆ Found in Text Mining only
Apraxia, Oral	Apraxia	BEFREE	23918746		★☆☆☆☆ Found in Text Mining only
Apraxia, Verbal	Apraxia	BEFREE	15877281, 20571508, 21386874, 21663442, 30460543		★☆☆☆☆ Found in Text Mining only
Apraxia, Verbal	Apraxia	CTD_human_DG	17033973, 27120335		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	10880297, 11894222, 12599277, 12746395, 15877281, 17033973, 17999362, 18987363, 19332160, 19352412, 20096010, 20848658, 20858596, 20923434, 20950788, 21108403, 21386874, 21897444, 22106036, 22262880, 22766611, 22909774, 23602712, 24807205, 25232744, 25422445, 26867680, 27734906, 29174050, 29463886, 30460543, 30668952, 31046704, 35944036, 36328423, 40225914, 9770548	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	BEFREE	12599277, 16470794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apraxias	Apraxia	CTD_human_DG	17033973, 27120335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22504457, 30379906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	30478444, 30610198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21832174, 21996756, 28081867, 36758877	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20579107, 21108403, 21832174, 24356376, 28081867, 30357341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11894222, 12116195, 12655497, 12721956, 12746395, 15108192, 15737702, 15998549, 18248790, 21832174, 23277129, 24356376, 30294994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	12721956, 12746395, 18987363, 21832174, 28081867, 35944036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15108192, 17033973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29123465		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	17999362	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25515522, 29805593		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25515522, 31646574, 35614183	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26142732	Inhibit	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31023531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	31023531		★☆☆☆☆ Found in Text Mining only
Childhood apraxia of speech	Apraxia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic schizophrenia	Schizophrenia	BEFREE	28421313		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21832174, 31046704, 31425145	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22736078		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31378886		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31378886, 35667086	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22936669		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	31545395		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30718454, 35017462, 36328423	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	12876151, 27572252, 28798667		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31067457, 31199603	Associate	★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	28436202		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31511532		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34969354	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31511532		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27224915		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	38382530	Stimulate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	23918746		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	12746395, 15877281, 21897444, 22262880, 29922639, 30379906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	Pubtator	12746395, 21897444, 22262880, 30379906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphism	Dysmorphism	BEFREE	16470794		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28333195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	18508238, 20858596, 21293269, 24179158, 30294994		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33432363	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25556567	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	20858950, 27497476		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	29512694	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	GWASCAT_DG	31527586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	31824836		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31824836		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	16470794, 23860044, 27572252, 28741757		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29104670		★☆☆☆☆ Found in Text Mining only
Grammar-specific speech disorder	Grammar-specific speech disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	12599277	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	21334420		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23602712	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29212017		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29637443		★☆☆☆☆ Found in Text Mining only
Ideational Apraxia	Apraxia	CTD_human_DG	17033973, 27120335		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21832174, 27572252, 31545395		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16045746	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19018235, 30753188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal Diseases	BEFREE	14997560		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	15877281, 18987363, 22262880, 29174050	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language Development Disorders	CTD_human_DG	27120335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language Disorders	BEFREE	11586359, 11894222, 12060812, 12655497, 12721956, 12746395, 16470794, 16538183, 17330859, 18430631, 19909259, 20649982, 20858950, 20950788, 22106036, 22129783, 22144704, 22262880, 22404659, 22504457, 22522212, 23228431, 23277129, 24179158, 26442845, 27064276, 27497476, 28741757, 29203828, 30554107, 31046704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language Disorders	LHGDN	11586359, 15685218, 17196932, 17999362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	12721956, 12746395, 18987363, 19352412, 20649982, 20950788, 22262880, 23602712, 27064276, 30460543, 36328423	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning Disorders	BEFREE	22504457		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22419479, 26142732, 29207173, 30930991		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20096010	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30127911		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22404659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22404659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25515522, 29805593		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29512694		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23559350		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20096010, 27224915, 31283068, 31432170		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31023531		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36331719	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32949309	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	19018235, 22504457		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19018235		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	16563589		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	20096010		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	12189486		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	30460543	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20096010		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20096010	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23559350, 26142732, 29484998, 30670774, 31023531, 31432170		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20858950		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31046704		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31046704	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	12189486, 29365100, 31067457, 31199603, 31711176		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31432170		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25651499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	27734906	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26868259	Associate	★☆☆☆☆ Found in Text Mining only
Oromotor apraxia	Oromotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26034982, 28993144		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39511642	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36952070	Associate	★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	20858596		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21108403, 24356376, 30357341		★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	16563589		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	27497476		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	20858596	Associate	★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	22129783		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	27497476		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23559350		★☆☆☆☆ Found in Text Mining only
Receptive language delay	Receptive language delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	17033973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	CTD_human_DG	17033973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	15653268		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15653268, 16538183, 18248790, 19018235, 20649982, 21334420, 22404659, 24360035, 28421313, 29346177, 29905862, 30554107, 31425145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16538183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19018235, 20649982, 21334420, 22404659, 24360035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20649982, 24360035, 31425145, 35944036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific Language Disorder	Specific language disorder	Pubtator	12721956	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific language impairment	Specific Language Impairment	CLINGEN_DG	11586359, 12815709, 12876151, 15877281, 15983371, 16984964, 18052609, 18287060, 23918746, 24607928, 27572252		★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	11894222, 12721956, 15877281, 18987363, 24807205, 29920554		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	19304338		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	27120335		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	LHGDN	12060812		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	12160352, 15056695, 19797137, 20429420, 21108403, 22766611, 22909774, 23586582, 23860044, 23918746, 24769279, 28488276, 30753188, 30796815		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20626849, 32671202	Associate	★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	27497476		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36203616	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31283068		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22404659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22404659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations