MAP2K2 (mitogen-activated protein kinase kinase 2)

Gene

• Entrez ID: 5605
• Gene name: Mitogen-activated protein kinase kinase 2
• Gene symbol: MAP2K2
• Synonyms (NCBI Gene): CFC4, MAPKK2, MEK2, MKK2, PRKMK2
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs117945277	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs121434497	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121434498	A>C,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121434499	A>G	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs139404261	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs267607230	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs387906800	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs539611844	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs727504370	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504382	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504836	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs730880511	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880517	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880518	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880522	C>T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant
rs759061964	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs763424788	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs763469132	TTC>-	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, coding sequence variant, inframe deletion, genic downstream transcript variant, intron variant
rs886041310	T>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057519806	T>C,G	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057519807	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519808	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519809	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519810	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519910	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1114167351	ATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1135401787	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599307313	ACCTTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025900	hsa-miR-7-5p	Microarray	19073608
MIRT032459	hsa-let-7b-5p	Proteomics	18668040
MIRT639737	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT639736	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT639735	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT639734	hsa-miR-3119	HITS-CLIP	23824327
MIRT639733	hsa-miR-3672	HITS-CLIP	23824327
MIRT639732	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT639731	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT531861	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531860	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531859	hsa-miR-196b-3p	PAR-CLIP	22012620
MIRT531858	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531857	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT531856	hsa-miR-4731-5p	PAR-CLIP	22012620
MIRT531854	hsa-miR-5589-5p	PAR-CLIP	22012620
MIRT531855	hsa-miR-492	PAR-CLIP	22012620
MIRT531852	hsa-miR-3649	PAR-CLIP	22012620
MIRT531853	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT531851	hsa-miR-3170	PAR-CLIP	22012620
MIRT531850	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT639737	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT639736	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT639735	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT639734	hsa-miR-3119	HITS-CLIP	23824327
MIRT639733	hsa-miR-3672	HITS-CLIP	23824327
MIRT639732	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT639731	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT531861	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT531860	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT531859	hsa-miR-196b-3p	PAR-CLIP	22012620
MIRT531858	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT531857	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT531856	hsa-miR-4731-5p	PAR-CLIP	22012620
MIRT531854	hsa-miR-5589-5p	PAR-CLIP	22012620
MIRT531855	hsa-miR-492	PAR-CLIP	22012620
MIRT531852	hsa-miR-3649	PAR-CLIP	22012620
MIRT531853	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT531851	hsa-miR-3170	PAR-CLIP	22012620
MIRT531850	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT1127939	hsa-miR-1226	CLIP-seq
MIRT1127940	hsa-miR-2052	CLIP-seq
MIRT1127941	hsa-miR-339-5p	CLIP-seq
MIRT1127942	hsa-miR-3622b-5p	CLIP-seq
MIRT1127943	hsa-miR-3921	CLIP-seq
MIRT1127944	hsa-miR-4251	CLIP-seq
MIRT1127945	hsa-miR-4287	CLIP-seq
MIRT1127946	hsa-miR-4329	CLIP-seq
MIRT1127947	hsa-miR-4469	CLIP-seq
MIRT1127948	hsa-miR-4520a-3p	CLIP-seq
MIRT1127949	hsa-miR-4653-5p	CLIP-seq
MIRT1127950	hsa-miR-4685-3p	CLIP-seq
MIRT1127951	hsa-miR-4733-3p	CLIP-seq
MIRT1127952	hsa-miR-4736	CLIP-seq
MIRT1127953	hsa-miR-4768-5p	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127956	hsa-miR-541	CLIP-seq
MIRT1127957	hsa-miR-654-5p	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2036341	hsa-miR-3194-5p	CLIP-seq
MIRT2036342	hsa-miR-3197	CLIP-seq
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT2566262	hsa-miR-1247	CLIP-seq
MIRT2566263	hsa-miR-1250	CLIP-seq
MIRT2566264	hsa-miR-1827	CLIP-seq
MIRT2566265	hsa-miR-1909	CLIP-seq
MIRT2566266	hsa-miR-2355-5p	CLIP-seq
MIRT2566267	hsa-miR-3074-5p	CLIP-seq
MIRT2566268	hsa-miR-3150b-3p	CLIP-seq
MIRT2566269	hsa-miR-3907	CLIP-seq
MIRT2566270	hsa-miR-4258	CLIP-seq
MIRT2566271	hsa-miR-4316	CLIP-seq
MIRT2566272	hsa-miR-4707-5p	CLIP-seq
MIRT2566273	hsa-miR-4710	CLIP-seq
MIRT2566274	hsa-miR-4722-5p	CLIP-seq
MIRT2566275	hsa-miR-4768-3p	CLIP-seq
MIRT2566276	hsa-miR-4784	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2566277	hsa-miR-940	CLIP-seq
MIRT1127938	hsa-miR-1181	CLIP-seq
MIRT2566262	hsa-miR-1247	CLIP-seq
MIRT2566263	hsa-miR-1250	CLIP-seq
MIRT2566264	hsa-miR-1827	CLIP-seq
MIRT2566265	hsa-miR-1909	CLIP-seq
MIRT2566266	hsa-miR-2355-5p	CLIP-seq
MIRT2566267	hsa-miR-3074-5p	CLIP-seq
MIRT2566268	hsa-miR-3150b-3p	CLIP-seq
MIRT2566269	hsa-miR-3907	CLIP-seq
MIRT2566270	hsa-miR-4258	CLIP-seq
MIRT2566271	hsa-miR-4316	CLIP-seq
MIRT2566272	hsa-miR-4707-5p	CLIP-seq
MIRT2566273	hsa-miR-4710	CLIP-seq
MIRT2566274	hsa-miR-4722-5p	CLIP-seq
MIRT2566275	hsa-miR-4768-3p	CLIP-seq
MIRT2566276	hsa-miR-4784	CLIP-seq
MIRT1127954	hsa-miR-4786-5p	CLIP-seq
MIRT1127955	hsa-miR-503	CLIP-seq
MIRT1127958	hsa-miR-769-5p	CLIP-seq
MIRT2566277	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IBA
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004708	Function	MAP kinase kinase activity	IBA
GO:0004708	Function	MAP kinase kinase activity	IDA	8388392
GO:0004708	Function	MAP kinase kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	TAS	19565474
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IEA
GO:0005078	Function	MAP-kinase scaffold activity	IMP	29433126
GO:0005515	Function	Protein binding	IPI	11909642, 17979178, 21615688, 21988832, 24746704, 25416956, 25600339, 25852190, 27086506, 28514442, 29433126, 31980649, 32296183, 32707033, 32814053, 33961781, 35271311, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	NAS	8388392
GO:0005634	Component	Nucleus	TAS	19565474
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	19565474
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	TAS	19565474
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	TAS	19565474
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005783	Component	Endoplasmic reticulum	IDA	21615688
GO:0005794	Component	Golgi apparatus	IDA	21615688
GO:0005794	Component	Golgi apparatus	TAS	19565474
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	19565474
GO:0005874	Component	Microtubule	IDA	21615688
GO:0005911	Component	Cell-cell junction	IDA	21615688
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	TAS	19565474
GO:0007507	Process	Heart development	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	21615688
GO:0010628	Process	Positive regulation of gene expression	IMP	24375836
GO:0014044	Process	Schwann cell development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030165	Function	PDZ domain binding	IDA	21615688
GO:0030878	Process	Thyroid gland development	IEA
GO:0032872	Process	Regulation of stress-activated MAPK cascade	IEA
GO:0032872	Process	Regulation of stress-activated MAPK cascade	TAS	19565474
GO:0036289	Process	Peptidyl-serine autophosphorylation	IDA	8388392
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	IEA
GO:0042552	Process	Myelination	IEA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	8388392
GO:0043539	Function	Protein serine/threonine kinase activator activity	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	24375836
GO:0046872	Function	Metal ion binding	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21615688
GO:0048538	Process	Thymus development	IEA
GO:0048679	Process	Regulation of axon regeneration	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060324	Process	Face development	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060440	Process	Trachea formation	IEA
GO:0060502	Process	Epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IMP	24375836
GO:0070371	Process	ERK1 and ERK2 cascade	TAS
GO:0071902	Process	Positive regulation of protein serine/threonine kinase activity	IDA	8388392
GO:0090170	Process	Regulation of Golgi inheritance	IEA
GO:0090170	Process	Regulation of Golgi inheritance	TAS	19565474
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	IPI	10409742, 21615688
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000147	Process	Positive regulation of cell motility	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	IEA
GO:2000641	Process	Regulation of early endosome to late endosome transport	TAS	19565474

Other IDs

• MIM: 601263
• HGNC: 6842
• e!Ensembl: ENSG00000126934

Protein

• UniProt ID: P36507
• Protein name: Dual specificity mitogen-activated protein kinase kinase 2 (MAP kinase kinase 2) (MAPKK 2) (EC 2.7.12.2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK 2)
• Protein function: Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by bind
• PDB: 1S9I, 4H3Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	72 → 369	Protein kinase domain	Domain

• Sequence:

  MLARRKPVLPALTINPTIAEGPSPTSEGASEANLVDLQKKLEELELDEQQKKRLEAFLTQ
  KAKVGELKDDDFERISELGAGNGGVVTKVQHRPSGLIMARKLIHLEIKPAIRNQIIRELQ
  VLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKEAKRIPEEILGKVSIAVLRG
  LAYLREKHQIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMAPERLQ
  GTHYSVQSDIWSMGLSLVELAVGRYPIPPPDAKELEAIFGRPVVDGEEGEPHSISPRPRP
  PGRPVSGHGMDSRPAMAIFELLDYIVNEPPPKLPNGVFTPDFQEFVNKCLIKNPAERADL
  KMLTNHTFIKRSEVEEVDFAGWLCKTLRLNQPGTPTRTAV

• Sequence length: 400

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
Cardio-facio-cutaneous syndrome	Likely pathogenic; Pathogenic	rs727504370, rs121434497, rs121434498, rs121434499, rs267607230, rs1057519806, rs727504382, rs1599307313	RCV000208747 RCV000208756 RCV000521375 RCV000008763 RCV000208770 RCV000824947 RCV000524055 RCV000824944	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome 1	Likely pathogenic; Pathogenic	rs730880517	RCV000200295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiofaciocutaneous syndrome 4	Likely pathogenic; Pathogenic	rs121434498, rs121434497, rs121434499, rs267607230, rs2145080530, rs886041310, rs1057519806, rs387906800, rs1135401787, rs730880517	RCV004796053 RCV000008761 RCV000008762 RCV000043675 RCV000008764 RCV003152996 RCV001775109 RCV000995803 RCV000023088 RCV000496536 RCV001781338 RCV005622034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs387906800	RCV005372225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Castleman-Kojima disease	Likely pathogenic; Pathogenic	rs267607230	RCV000824698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAP2K2-related disorder	Pathogenic; Likely pathogenic	rs121434499, rs267607230	RCV003390660 RCV003908112	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Likely pathogenic	rs727504370, rs727504382	RCV000844676 RCV000844675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 1	Likely pathogenic; Pathogenic	rs727504370, rs121434499	RCV003453160 RCV003450621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome and Noonan-related syndrome	Pathogenic	rs121434499	RCV001813182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs387906800, rs727504370, rs730880518, rs121434498, rs201129499, rs121434497, rs121434499, rs267607230, rs886041310, rs1057519806, rs730880517, rs727504382, rs1057519910	RCV002028395 RCV000154507 RCV003539802 RCV003447507 RCV002715909 RCV005252030 RCV000521479 RCV004760323 RCV001855055 RCV001851015 RCV000149835 RCV001205317 RCV000158024 RCV000702132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Magenis Syndrome-like	Pathogenic	rs1114167351	RCV000490823	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BYZANTHINE ARCH PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME	—	CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet CTD, ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COSTELLO SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis-Noonan syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Noonan syndrome with multiple lentigines	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA, ANASARCA, FEVER, RENAL INSUFFICIENCY, ORGANOMEGALY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19014680		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11544480		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21811019	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12356354	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19500021	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	10807475	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27986791		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23217386		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12907143, 30108112, 31702027, 33066575, 35739379, 36041543, 37664933, 38259097	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cafe au lait spots, multiple	Cafe-au-lait spot	BEFREE	24311457		★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe-au-lait macules with pulmonary stenosis	Cafe-Au-Lait Macules With Pulmonary Stenosis	ORPHANET_DG	24311457		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29064427, 30355600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	20407018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34048471	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22930530, 28844099, 35725908, 37914022, 9223425	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23217386		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	9121773		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31583713	Associate	★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG	16439621, 17366577, 17704260, 17981815, 18413255, 18456719, 20518782, 23875798, 25487361		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	GENOMICS_ENGLAND_DG	16439621, 21396583, 23379592, 23875798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINVAR_DG	16439621, 17981815, 18039235, 18042262, 18413255, 20358587, 29493581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CTD_human_DG	16439621, 17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	ORPHANET_DG	16825433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	17211612, 17551924, 17661820, 18039235, 18470943, 19156172, 19376813, 20358587, 23379592, 24311457, 25487361, 26855057, 27751966, 29704308, 29799162, 31125963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	17483702, 18039235, 18854871, 19156172, 20186801, 20358587, 21062266, 21495173, 23379592, 33482860, 35509048, 35524774, 37697378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOFACIOCUTANEOUS SYNDROME 4	Cardiofaciocutaneous Syndrome	UNIPROT_DG	16439621, 18042262, 20358587		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOFACIOCUTANEOUS SYNDROME 4	Cardiofaciocutaneous Syndrome	GENOMICS_ENGLAND_DG	18042262, 21396583, 23379592, 23875798, 27799067		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIOFACIOCUTANEOUS SYNDROME 4	Cardiofaciocutaneous Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	31163979	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39762845	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11544480		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	17461449		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	17461449, 21492330	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21557394	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19014680		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19014680, 28000901		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19014680		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19372556, 20413844, 24025253, 25794709, 27636997, 28655712, 35091088	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	19156172, 25853300	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19363666		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	17661820, 17704260, 18042262, 26855057		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	29752777	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23248257		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23379592, 25853300, 30355600	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31125963		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35628588, 36736734	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26269521	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15327405		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	BEFREE	28382689		★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis symmetrica hereditaria	Pubtator	28382689	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21720253, 22706224	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24064688	Associate	★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	38111702	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37286356	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19164283, 36848349	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	19156172	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27098723	Associate	★☆☆☆☆ Found in Text Mining only
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	23379592	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	LHGDN	18617556		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18398503, 19158480, 21364665	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26189368		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30225541	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27751966		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37697378	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25853300	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	19156172, 23379592	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	31768065	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	30867592, 31768065		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18327563		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	27606810	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	17331965	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19014680		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	25853300	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	18039235	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	17218385, 19414379, 19773546, 31056348, 37322258	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26990290		★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	12576324	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11238126	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11238126, 37845689, 39273530	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19816936, 29706623		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25794709	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16912199		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23362830, 37816716	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34239803	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	24746703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	9121773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	14654942, 15547692, 27301426		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23217386		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12866581, 15547692, 19014680, 24717435		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11544480		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19362540, 21477078, 22589389, 23174022, 24055054, 24265154, 24466036, 25452114, 25850435, 26084293, 26588333, 28387310, 28655712, 30819666, 30989459, 31900433, 31980996, 35290123, 37379213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	22197931, 23174022, 23248257, 24055054, 25452114, 28919996, 31804055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	22197931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CLINVAR_DG	24265153, 24265154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	35319795	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26956845		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31675726		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17540843, 17854307, 21911831, 24594907	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	36619896	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	24609540	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14654942, 19681119, 24055054, 29706623, 31675726		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30615146		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26384788, 34807483	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	30615146		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan Syndrome	ORPHANET_DG	24311457		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	27494873	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25722381, 30087028		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	17603483, 17661820, 20302979, 31125963		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	17703371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	17981815, 18039235, 18413255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	23875798, 24311457, 25862627		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	31163979	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	17703371		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	17412493	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18060073		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	14654942, 15547692, 27301426		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27301426, 36999792	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28933595		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37339976	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	31675726		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26983806, 32859632	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32063702	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	24465776	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	23379592	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24192080, 32381551, 33051434	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19858308	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	BEFREE	27751966		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19500021, 25294906	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19500021, 22090271, 30768848, 37932340	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30108112, 34168046	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21557394		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32196955	Associate	★☆☆☆☆ Found in Text Mining only