JAG2 (jagged canonical Notch ligand 2)

Gene

• Entrez ID: 3714
• Gene name: Jagged canonical Notch ligand 2
• Gene symbol: JAG2
• Synonyms (NCBI Gene): HJ2, LGMDR27, SER2
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016805	hsa-miR-335-5p	Microarray	18185580
MIRT022161	hsa-miR-124-3p	Microarray	18668037
MIRT049515	hsa-miR-92a-3p	CLASH	23622248
MIRT042161	hsa-miR-484	CLASH	23622248
MIRT053421	hsa-miR-624-3p	Microarray	23807165
MIRT647293	hsa-miR-6165	HITS-CLIP	23824327
MIRT647292	hsa-miR-8083	HITS-CLIP	23824327
MIRT647291	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT647290	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT647289	hsa-miR-761	HITS-CLIP	23824327
MIRT647288	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647287	hsa-miR-1286	HITS-CLIP	23824327
MIRT647286	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647285	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT647284	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT647283	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT647282	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT647281	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT647280	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT647278	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647279	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT731729	hsa-miR-410-3p	Immunofluorescence, Microarray, qRT-PCR, Western blot	25998143
MIRT731729	hsa-miR-410-3p	Immunofluorescence, Microarray, qRT-PCR, Western blot	25998143
MIRT647293	hsa-miR-6165	HITS-CLIP	23824327
MIRT647292	hsa-miR-8083	HITS-CLIP	23824327
MIRT647291	hsa-miR-214-3p	HITS-CLIP	23824327
MIRT647290	hsa-miR-3619-5p	HITS-CLIP	23824327
MIRT647289	hsa-miR-761	HITS-CLIP	23824327
MIRT647288	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647287	hsa-miR-1286	HITS-CLIP	23824327
MIRT647286	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647285	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT647284	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT647283	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT647282	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT647281	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT647280	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT647278	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647279	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT1075945	hsa-miR-1227	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT1075948	hsa-miR-4517	CLIP-seq
MIRT1075949	hsa-miR-4643	CLIP-seq
MIRT1075950	hsa-miR-466	CLIP-seq
MIRT1075951	hsa-miR-4789-3p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075953	hsa-miR-485-3p	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT1075959	hsa-miR-889	CLIP-seq
MIRT1075960	hsa-miR-1224-3p	CLIP-seq
MIRT1075961	hsa-miR-1229	CLIP-seq
MIRT1075962	hsa-miR-1256	CLIP-seq
MIRT1075963	hsa-miR-1260	CLIP-seq
MIRT1075964	hsa-miR-1260b	CLIP-seq
MIRT1075965	hsa-miR-1280	CLIP-seq
MIRT1075966	hsa-miR-136	CLIP-seq
MIRT1075967	hsa-miR-148a	CLIP-seq
MIRT1075968	hsa-miR-148b	CLIP-seq
MIRT1075969	hsa-miR-152	CLIP-seq
MIRT1075970	hsa-miR-193a-5p	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT1075971	hsa-miR-30a	CLIP-seq
MIRT1075972	hsa-miR-30b	CLIP-seq
MIRT1075973	hsa-miR-30c	CLIP-seq
MIRT1075974	hsa-miR-30d	CLIP-seq
MIRT1075975	hsa-miR-30e	CLIP-seq
MIRT1075976	hsa-miR-3145-5p	CLIP-seq
MIRT1075977	hsa-miR-3157-5p	CLIP-seq
MIRT1075978	hsa-miR-3607-3p	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT1075979	hsa-miR-3686	CLIP-seq
MIRT1075980	hsa-miR-3918	CLIP-seq
MIRT1075981	hsa-miR-4272	CLIP-seq
MIRT1075948	hsa-miR-4517	CLIP-seq
MIRT1075982	hsa-miR-4640-5p	CLIP-seq
MIRT1075949	hsa-miR-4643	CLIP-seq
MIRT1075950	hsa-miR-466	CLIP-seq
MIRT1075983	hsa-miR-4685-5p	CLIP-seq
MIRT1075984	hsa-miR-4691-3p	CLIP-seq
MIRT1075985	hsa-miR-4699-5p	CLIP-seq
MIRT1075986	hsa-miR-4705	CLIP-seq
MIRT1075987	hsa-miR-4726-5p	CLIP-seq
MIRT1075988	hsa-miR-4778-5p	CLIP-seq
MIRT1075951	hsa-miR-4789-3p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075989	hsa-miR-508-5p	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT1075959	hsa-miR-889	CLIP-seq
MIRT2018850	hsa-miR-124	CLIP-seq
MIRT2018851	hsa-miR-151-5p	CLIP-seq
MIRT2018852	hsa-miR-151b	CLIP-seq
MIRT2018853	hsa-miR-200b	CLIP-seq
MIRT2018854	hsa-miR-200c	CLIP-seq
MIRT1075946	hsa-miR-2115	CLIP-seq
MIRT2018855	hsa-miR-300	CLIP-seq
MIRT2018856	hsa-miR-3135b	CLIP-seq
MIRT2018857	hsa-miR-3138	CLIP-seq
MIRT2018858	hsa-miR-3180	CLIP-seq
MIRT2018859	hsa-miR-3180-3p	CLIP-seq
MIRT2018860	hsa-miR-3184	CLIP-seq
MIRT2018861	hsa-miR-3196	CLIP-seq
MIRT2018862	hsa-miR-3611	CLIP-seq
MIRT2018863	hsa-miR-3660	CLIP-seq
MIRT1075947	hsa-miR-3671	CLIP-seq
MIRT2018864	hsa-miR-381	CLIP-seq
MIRT2018865	hsa-miR-423-5p	CLIP-seq
MIRT2018866	hsa-miR-429	CLIP-seq
MIRT2018867	hsa-miR-4427	CLIP-seq
MIRT2018868	hsa-miR-4493	CLIP-seq
MIRT2018869	hsa-miR-4520a-3p	CLIP-seq
MIRT2018870	hsa-miR-4526	CLIP-seq
MIRT2018871	hsa-miR-4645-3p	CLIP-seq
MIRT2018872	hsa-miR-4666-3p	CLIP-seq
MIRT1075986	hsa-miR-4705	CLIP-seq
MIRT2018873	hsa-miR-4724-5p	CLIP-seq
MIRT2018874	hsa-miR-4736	CLIP-seq
MIRT2018875	hsa-miR-4737	CLIP-seq
MIRT2018876	hsa-miR-4767	CLIP-seq
MIRT2018877	hsa-miR-4779	CLIP-seq
MIRT2018878	hsa-miR-4789-5p	CLIP-seq
MIRT1075952	hsa-miR-4797-5p	CLIP-seq
MIRT1075953	hsa-miR-485-3p	CLIP-seq
MIRT2018879	hsa-miR-506	CLIP-seq
MIRT1075954	hsa-miR-516a-3p	CLIP-seq
MIRT1075955	hsa-miR-520d-5p	CLIP-seq
MIRT1075956	hsa-miR-520f	CLIP-seq
MIRT1075957	hsa-miR-524-5p	CLIP-seq
MIRT1075958	hsa-miR-759	CLIP-seq
MIRT2018880	hsa-miR-935	CLIP-seq
MIRT1075977	hsa-miR-3157-5p	CLIP-seq
MIRT1075984	hsa-miR-4691-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	9315665
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16713569
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	10910909
GO:0005886	Component	Plasma membrane	TAS
GO:0007154	Process	Cell communication	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	NAS	11056013
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEP	11700865
GO:0008083	Function	Growth factor activity	IDA	10383933
GO:0009912	Process	Auditory receptor cell fate commitment	IEA
GO:0009912	Process	Auditory receptor cell fate commitment	ISS	10080181
GO:0016020	Component	Membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0030154	Process	Cell differentiation	IDA	11700865
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030217	Process	T cell differentiation	IDA	10383933
GO:0042127	Process	Regulation of cell population proliferation	IDA	10383933
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042492	Process	Gamma-delta T cell differentiation	IEA
GO:0045061	Process	Thymic T cell selection	IDA	10383933
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:1990134	Process	Epithelial cell apoptotic process involved in palatal shelf morphogenesis	IEA

Other IDs

• MIM: 602570
• HGNC: 6189
• e!Ensembl: ENSG00000184916

Protein

• UniProt ID: Q9Y219
• Protein name: Protein jagged-2 (Jagged2) (hJ2)
• Protein function: Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).
• PDB: 5MW5, 5MW7, 5MWF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07657	MNNL	27 → 103	N terminus of Notch ligand	Family
  PF01414	DSL	178 → 240	Delta serrate ligand	Domain
  PF00008	EGF	311 → 343	EGF-like domain	Domain
  PF00008	EGF	351 → 381	EGF-like domain	Domain
  PF00008	EGF	389 → 419	EGF-like domain	Domain
  PF07645	EGF_CA	423 → 465	Calcium-binding EGF domain	Domain
  PF12661	hEGF	469 → 490	Human growth factor-like EGF	Domain
  PF12661	hEGF	507 → 528	Human growth factor-like EGF	Domain
  PF12661	hEGF	606 → 628	Human growth factor-like EGF	Domain
  PF00008	EGF	640 → 670	EGF-like domain	Domain
  PF00008	EGF	678 → 708	EGF-like domain	Domain
  PF00008	EGF	716 → 746	EGF-like domain	Domain
  PF00008	EGF	755 → 785	EGF-like domain	Domain
  PF00008	EGF	793 → 823	EGF-like domain	Domain
  PF00008	EGF	831 → 861	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, placenta and skeletal muscle and to a lesser extent in pancreas. Very low expression in brain, lung, liver and kidney.
• Sequence:

  MRAQGRGRLPRRLLLLLALWVQAARPMGYFELQLSALRNVNGELLSGACCDGDGRTTRAG
  GCGHDECDTYVRVCLKEYQAKVTPTGPCSYGHGATPVLGGNSFYLPPAGAAGDRARARAR
  AGGDQDPGLVVIPFQFAWPRSFTLIVEAWDWDNDTTPNEELLIERVSHAGMINPEDRWKS
  LHFSGHVAHLELQIRVRCDENYYSATCNKFCRPRNDFFGHYTCDQYGNKACMDGWMGKEC
  KEAVCKQGCNLLHGGCTVPGECRCSYGWQGRFCDECVPYPGCVHGSCVEPWQCNCETNWG
  GLLCDKDLNYCGSHHPCTNGGTCINAEPDQYRCTCPDGYSGRNCEKAEHACTSNPCANGG
  SCHEVPSGFECHCPSGWSGPTCALDIDECASNPCAAGGTCVDQVDGFECICPEQWVGATC
  QLDANECEGKPCLNAFSCKNLIGGYYCDCIPGWKGINCHINVNDCRGQCQHGGTCKDLVN
  GYQCVCPRGFGGRHCELERDECASSPCHSGGLCEDLADGFHCHCPQGFSGPLCEVDVDLC
  EPSPCRNGARCYNLEGDYYCACPDDFGGKNCSVPREPCPGGACRVIDGCGSDAGPGMPGT
  AASGVCGPHGRCVSQPGGNFSCICDSGFTGTYCHENIDDCLGQPCRNGGTCIDEVDAFRC
  FCPSGWEGELCDTNPNDCLPDPCHSRGRCYDLVNDFYCACDDGWKGKTCHSREFQCDAYT
  CSNGGTCYDSGDTFRCACPPGWKGSTCAVAKNSSCLPNPCVNGGTCVGSGASFSCICRDG
  WEGRTCTHNTNDCNPLPCYNGGICVDGVNWFRCECAPGFAGPDCRINIDECQSSPCAYGA
  TCVDEINGYRCSCPPGRAGPRCQEVIGFGRSCWSRGTPFPHGSSWVEDCNSCRCLDGRRD
  CSKVWCGWKPCLLAGQPEALSAQCPLGQRCLEKAPGQCLRPPCEAWGECGAEEPPSTPCL
  PRSGHLDNNCARLTLHFNRDHVPQGTTVGAICSGIRSLPATRAVARDRLLVLLCDRASSG
  ASAVEVAVSFSPARDLPDSSLIQGAAHAIVAAITQRGNSSLLLAVTEVKVETVVTGGSST
  GLLVPVLCGAFSVLWLACVVLCVWWTRKRRKERERSRLPREESANNQWAPLNPIRNPIER
  PGGHKDVLYQCKNFTPPPRRADEALPGPAGHAAVREDEEDEDLGRGEEDSLEAEKFLSHK
  FTKDPGRSPGRPAHWASGPKVDNRAVRSINEARYAGKE

• Sequence length: 1238

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Pathways in cancer
Breast cancer

Reactome:

Activated NOTCH1 Transmits Signal to the Nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH3 Activation and Transmission of Signal to the Nucleus

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
Muscular dystrophy, limb-girdle, autosomal recessive 27	Likely pathogenic; Pathogenic	rs781734780, rs2140979845, rs1377648342, rs751347948, rs1426938760	RCV001731214 RCV002074459 RCV002074460 RCV002223156 RCV003989928	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JAG2-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mendelian syndromes with cleft lip/palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFTING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	16136053		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21403400		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29736309		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16136053		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24708907, 25576913, 31594641		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	26035058		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	20337864		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25009283		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25351917, 26934555		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29225348		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29225348	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29225348		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37796367	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28111308		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21499308		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20030805	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21499308, 21990379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	32250571	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24708907	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21922151	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24708907, 25576913, 31594641		★☆☆☆☆ Found in Text Mining only
Circadian Rhythm Disorders	Circadian Rhythm Disorders	BEFREE	31411808		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	16327884	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	26151095		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	16327884	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30473216, 31198409		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28881809, 31198409		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26744411	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27909050		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37796700	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31308481		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	20624166, 21403400		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	15361705		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	21129727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	21129727, 21649900	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21129727		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	21892607		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	23074278, 30296338		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25480889		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	25480889	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21499308, 25166211	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31619270		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27175940		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	CTD_human_DG	20038814		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21499308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25351917		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	20508033		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15292061, 21499308, 30280784		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30473216, 31198409		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24708907, 25576913, 31594641		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	24708907, 25576913	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	15292061		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15292061, 19417136, 27023728, 31582544		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15292061, 15920166, 37834003	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20337864, 21402725, 21499308, 29736309, 31594641		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25480889	Associate	★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33926256	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20624166, 37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25351917		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19258443	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	23955600		★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	CTD_human_DG	9531541		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26341090	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27661116	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16899352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16899352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	25565632	Stimulate	★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20508033		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24351288, 32250571	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27349552	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36071128	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CTD_human_DG	9531541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Teratoma	BEFREE	15361705		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	15361705	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30280784		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30280784	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	20572854		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24228105	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	23211831		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	23211831	Associate	★☆☆☆☆ Found in Text Mining only