CDH2 (cadherin 2)

Gene

• Entrez ID: 1000
• Gene name: Cadherin 2
• Gene symbol: CDH2
• Synonyms (NCBI Gene): ACOGS, ADHD8, ARVD14, CD325, CDHN, CDw325, NCAD
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell ad

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199984052	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201775968	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs754880999	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1555630396	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598982483	->AACA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1598982488	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1599010918	T>C	Pathogenic	Coding sequence variant, missense variant
rs1599011050	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1599017933	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005821	hsa-miR-204-5p	Microarray	21282569
MIRT005889	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	20979124
MIRT005889	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	20979124
MIRT007288	hsa-miR-145-5p	Luciferase reporter assay, Western blot	22370644
MIRT021006	hsa-miR-155-5p	Proteomics	19386588
MIRT021684	hsa-miR-138-5p	qRT-PCR	21770894
MIRT023197	hsa-miR-124-3p	Microarray	18668037
MIRT024104	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028671	hsa-miR-30a-5p	Proteomics	18668040
MIRT040123	hsa-miR-615-3p	CLASH	23622248
MIRT038654	hsa-miR-27b-5p	CLASH	23622248
MIRT005889	hsa-miR-194-5p	qRT-PCR, Western blot	21845495
MIRT007288	hsa-miR-145-5p	Microarray	22942087
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT659656	hsa-miR-8485	HITS-CLIP	23824327
MIRT659655	hsa-miR-603	HITS-CLIP	23824327
MIRT659654	hsa-miR-1244	HITS-CLIP	23824327
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT659652	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT440968	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440968	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT659654	hsa-miR-1244	HITS-CLIP	27418678
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	27418678
MIRT659652	hsa-miR-411-5p	HITS-CLIP	27418678
MIRT659655	hsa-miR-603	HITS-CLIP	27418678
MIRT659656	hsa-miR-8485	HITS-CLIP	27418678
MIRT732740	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT659656	hsa-miR-8485	HITS-CLIP	23824327
MIRT659655	hsa-miR-603	HITS-CLIP	23824327
MIRT659654	hsa-miR-1244	HITS-CLIP	23824327
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT659652	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT879782	hsa-miR-1179	CLIP-seq
MIRT879783	hsa-miR-1224-3p	CLIP-seq
MIRT879784	hsa-miR-1260	CLIP-seq
MIRT879785	hsa-miR-1260b	CLIP-seq
MIRT879786	hsa-miR-1263	CLIP-seq
MIRT879787	hsa-miR-127-5p	CLIP-seq
MIRT879788	hsa-miR-1280	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT879790	hsa-miR-129-5p	CLIP-seq
MIRT879791	hsa-miR-2052	CLIP-seq
MIRT879792	hsa-miR-221	CLIP-seq
MIRT879793	hsa-miR-222	CLIP-seq
MIRT879794	hsa-miR-2681	CLIP-seq
MIRT879795	hsa-miR-299-5p	CLIP-seq
MIRT879796	hsa-miR-3124-3p	CLIP-seq
MIRT879797	hsa-miR-3129-3p	CLIP-seq
MIRT879798	hsa-miR-380	CLIP-seq
MIRT879799	hsa-miR-3924	CLIP-seq
MIRT879800	hsa-miR-4495	CLIP-seq
MIRT879801	hsa-miR-452	CLIP-seq
MIRT879802	hsa-miR-4676-3p	CLIP-seq
MIRT879803	hsa-miR-4766-5p	CLIP-seq
MIRT879804	hsa-miR-532-3p	CLIP-seq
MIRT879805	hsa-miR-543	CLIP-seq
MIRT879806	hsa-miR-548m	CLIP-seq
MIRT879807	hsa-miR-548v	CLIP-seq
MIRT879808	hsa-miR-653	CLIP-seq
MIRT879790	hsa-miR-129-5p	CLIP-seq
MIRT879796	hsa-miR-3124-3p	CLIP-seq
MIRT2500645	hsa-miR-1225-3p	CLIP-seq
MIRT2500646	hsa-miR-1233	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT2500647	hsa-miR-1301	CLIP-seq
MIRT2500648	hsa-miR-136	CLIP-seq
MIRT2500649	hsa-miR-3122	CLIP-seq
MIRT2500650	hsa-miR-3140-3p	CLIP-seq
MIRT2500651	hsa-miR-3145-3p	CLIP-seq
MIRT2500652	hsa-miR-325	CLIP-seq
MIRT2500653	hsa-miR-3913-5p	CLIP-seq
MIRT2500654	hsa-miR-3921	CLIP-seq
MIRT2500655	hsa-miR-3938	CLIP-seq
MIRT2500656	hsa-miR-411	CLIP-seq
MIRT2500657	hsa-miR-4303	CLIP-seq
MIRT2500658	hsa-miR-4325	CLIP-seq
MIRT2500659	hsa-miR-4427	CLIP-seq
MIRT2500660	hsa-miR-4530	CLIP-seq
MIRT2500661	hsa-miR-4653-5p	CLIP-seq
MIRT2500662	hsa-miR-4680-3p	CLIP-seq
MIRT2500663	hsa-miR-4793-3p	CLIP-seq
MIRT2500664	hsa-miR-5047	CLIP-seq
MIRT2500665	hsa-miR-515-5p	CLIP-seq
MIRT2500666	hsa-miR-520d-5p	CLIP-seq
MIRT2500667	hsa-miR-524-5p	CLIP-seq
MIRT2500668	hsa-miR-642a	CLIP-seq
MIRT2500669	hsa-miR-766	CLIP-seq
MIRT2500645	hsa-miR-1225-3p	CLIP-seq
MIRT2500646	hsa-miR-1233	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT2500647	hsa-miR-1301	CLIP-seq
MIRT2500648	hsa-miR-136	CLIP-seq
MIRT2500650	hsa-miR-3140-3p	CLIP-seq
MIRT2500651	hsa-miR-3145-3p	CLIP-seq
MIRT2500652	hsa-miR-325	CLIP-seq
MIRT2500654	hsa-miR-3921	CLIP-seq
MIRT2500655	hsa-miR-3938	CLIP-seq
MIRT2500656	hsa-miR-411	CLIP-seq
MIRT2500657	hsa-miR-4303	CLIP-seq
MIRT2500658	hsa-miR-4325	CLIP-seq
MIRT2500659	hsa-miR-4427	CLIP-seq
MIRT2500660	hsa-miR-4530	CLIP-seq
MIRT2500661	hsa-miR-4653-5p	CLIP-seq
MIRT2500662	hsa-miR-4680-3p	CLIP-seq
MIRT2500664	hsa-miR-5047	CLIP-seq
MIRT2500665	hsa-miR-515-5p	CLIP-seq
MIRT2500666	hsa-miR-520d-5p	CLIP-seq
MIRT2500667	hsa-miR-524-5p	CLIP-seq
MIRT2500668	hsa-miR-642a	CLIP-seq
MIRT2500669	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	17297473;18535113
KLF8	Repression	20728449
MSX2	Repression	21730974
MZF1	Unknown	15541732
SNAI1	Unknown	21796367
SNAI2	Unknown	21796367
SP1	Unknown	15541732
SP3	Unknown	15541732
TWIST1	Unknown	21796367
TWIST2	Repression	19581928
TWIST2	Unknown	21796367

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0003323	Process	Type B pancreatic cell development	IEA
GO:0003323	Process	Type B pancreatic cell development	ISS
GO:0003723	Function	RNA binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	7650039, 17057644, 17098867, 17510365, 17679699, 18948590, 21357690, 29366904, 33961781, 35271311, 36950384
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22467863
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IDA	22467863
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	7650039
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	19101069, 24046456
GO:0005912	Component	Adherens junction	IEA
GO:0005916	Component	Fascia adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007043	Process	Cell-cell junction assembly	IBA
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007043	Process	Cell-cell junction assembly	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2384753
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007416	Process	Synapse assembly	IBA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IPI	19830702
GO:0008013	Function	Beta-catenin binding	TAS	16344550
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0014032	Process	Neural crest cell development	ISS
GO:0014704	Component	Intercalated disc	IBA
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	24046456
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA	28169360
GO:0030057	Component	Desmosome	IEA
GO:0030057	Component	Desmosome	ISS
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24046456
GO:0031012	Component	Extracellular matrix	HDA	27559042
GO:0034332	Process	Adherens junction organization	IBA
GO:0035995	Process	Detection of muscle stretch	TAS	30568254
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IEA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	ISS
GO:0044853	Component	Plasma membrane raft	IEA
GO:0045177	Component	Apical part of cell	IBA
GO:0045202	Component	Synapse	IEA
GO:0045294	Function	Alpha-catenin binding	IPI	7650039
GO:0045295	Function	Gamma-catenin binding	IPI	7650039
GO:0045296	Function	Cadherin binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0060019	Process	Radial glial cell differentiation	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070445	Process	Regulation of oligodendrocyte progenitor proliferation	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090497	Process	Mesenchymal cell migration	IEA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0097091	Process	Synaptic vesicle clustering	ISS
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IMP	31585109
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0098793	Component	Presynapse	IEA
GO:1902897	Process	Regulation of postsynaptic density protein 95 clustering	IEA
GO:2000809	Process	Positive regulation of synaptic vesicle clustering	IEA

Other IDs

• MIM: 114020
• HGNC: 1759
• e!Ensembl: ENSG00000170558

Protein

• UniProt ID: P19022
• Protein name: Cadherin-2 (CDw325) (Neural cadherin) (N-cadherin) (CD antigen CD325)
• Protein function: Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of n
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08758	Cadherin_pro	31 → 121	Cadherin prodomain like	Domain
  PF00028	Cadherin	164 → 258	Cadherin domain	Domain
  PF00028	Cadherin	272 → 373	Cadherin domain	Domain
  PF00028	Cadherin	387 → 489	Cadherin domain	Domain
  PF00028	Cadherin	502 → 596	Cadherin domain	Domain
  PF00028	Cadherin	608 → 701	Cadherin domain	Domain
  PF01049	Cadherin_C	751 → 904	Cadherin cytoplasmic region	Family

• Sequence:

  MCRIAGALRTLLPLLAALLQASVEASGEIALCKTGFPEDVYSAVLSKDVHEGQPLLNVKF
  SNCNGKRKVQYESSEPADFKVDEDGMVYAVRSFPLSSEHAKFLIYAQDKETQEKWQVAVK
  LSLKPTLTEESVKESAEVEEIVFPRQFSKHSGHLQRQKRDWVIPPINLPENSRGPFPQEL
  VRIRSDRDKNLSLRYSVTGPGADQPPTGIFIINPISGQLSVTKPLDREQIARFHLRAHAV
  DINGNQVENPIDIVINVIDMNDNRPEFLHQVWNGTVPEGSKPGTYVMTVTAIDADDPNAL
  NGMLRYRIVSQAPSTPSPNMFTINNETGDIITVAAGLDREKVQQYTLIIQATDMEGNPTY
  GLSNTATAVITVTDVNDNPPEFTAMTFYGEVPENRVDIIVANLTVTDKDQPHTPAWNAVY
  RISGGDPTGRFAIQTDPNSNDGLVTVVKPIDFETNRMFVLTVAAENQVPLAKGIQHPPQS
  TATVSVTVIDVNENPYFAPNPKIIRQEEGLHAGTMLTTFTAQDPDRYMQQNIRYTKLSDP
  ANWLKIDPVNGQITTIAVLDRESPNVKNNIYNATFLASDNGIPPMSGTGTLQIYLLDIND
  NAPQVLPQEAETCETPDPNSINITALDYDIDPNAGPFAFDLPLSPVTIKRNWTITRLNGD
  FAQLNLKIKFLEAGIYEVPIIITDSGNPPKSNISILRVKVCQCDSNGDCTDVDRIVGAGL
  GTGAIIAILLCIIILLILVLMFVVWMKRRDKERQAKQLLIDPEDDVRDNILKYDEEGGGE
  EDQDYDLSQLQQPDTVEPDAIKPVGIRRMDERPIHAEPQYPVRSAAPHPGDIGDFINEGL
  KAADNDPTAPPYDSLLVFDYEGSGSTAGSLSSLNSSSSGGEQDYDYLNDWGPRFKKLADM
  YGGGDD

• Sequence length: 906

Pathways

KEGG:

Cell adhesion molecules
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Adherens junctions interactions
Myogenesis
Post-translational protein phosphorylation

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
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Likely pathogenic; Pathogenic	rs2143975765, rs199984052, rs1598982483, rs1598982488, rs1599011050, rs2013040501, rs2013111940	RCV003330106 RCV001195094 RCV001195096 RCV001195095 RCV001195093 RCV001195092 RCV001195097 RCV001195098	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arrhythmogenic right ventricular dysplasia, familial, 14	Likely pathogenic; Pathogenic	rs2143975765, rs2510799501, rs965753331	RCV002248984 RCV004017191 RCV001194670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention deficit-hyperactivity disorder 8	Likely pathogenic	rs2510816952	RCV004584230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Likely pathogenic	rs777374626	RCV003484486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Axon pathfinding, cardiac, ocular and genital defects	Pathogenic; Likely pathogenic	rs199984052, rs1598982483, rs1598982488, rs1599010918, rs754880999, rs201775968, rs1599011050, rs1599017933	RCV001007458 RCV001007460 RCV001007459 RCV001007457 RCV001007456 RCV001007455 RCV001007454 RCV001007453 RCV001007452	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDH2-related disorder	Pathogenic	rs199984052	RCV000991214	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arteriovenous malformation	Likely pathogenic	rs1555630396	RCV000656331	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Pathogenic; Likely pathogenic	rs199984052, rs1598982483, rs1598982488, rs1599010918, rs754880999, rs201775968, rs1599011050, rs1599017933	RCV001007458 RCV001007460 RCV001007459 RCV001007457 RCV001007456 RCV001007455 RCV001007454 RCV001007453 RCV001007452	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs199984052, rs1598982483, rs1598982488, rs1599010918, rs1599011050, rs1599017933	RCV001261829 RCV001261831 RCV001261830 RCV001261828 RCV001261827 RCV001261826	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25149531		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30832661		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24705471, 30832661		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29237910		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23029563		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	27468715	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31346954		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31585109, 31650526		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29406991	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31177911		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36959563	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	26549284, 33566628	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	28280076, 30239670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35904110	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23321619	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23321619, 31808517		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31808517	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30747219		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	30906331	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	11996105, 16675571		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23438504		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21828122	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19270647	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	21170270, 23097623	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28952213	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23216791, 26825466		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	27811057		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10545506, 14654713, 21347235, 21983900, 22012049, 22569290, 23438504, 24962344, 25031724, 25733818, 26702618, 28112378, 29123322, 29183998, 29575368, 30570852, 30710426, 31947504, 31947762, 31963833, 32085795, 32300922, 32316333, 32775417, 33280520, 33899544, 34093853, 34096887, 34932597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	26150337, 32188112, 36315446	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	16521229, 19671168, 27468715, 28042956, 28570699	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28000879, 28930679		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	22012049, 25645984, 30228172	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	22012049	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29237910	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22488108, 25753478, 26165819, 26404322, 27611941, 31969493, 32829570, 32904434, 33176600, 33179108, 33336733, 33642822, 35260047, 35345355, 36010583, 37138218, 38212892	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	27247112, 35880695	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	12771988	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	30228172	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	10923074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23438504		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24705471, 27073840, 30127990		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	28097141	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25799022, 26219899, 31177911	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22888908, 30816490, 31692936, 31702026, 31915310, 32196582, 32633350, 33215419, 33850477, 34621242, 35414767, 36106411	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	12657131	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19270647, 26617850, 27223886, 31886179, 35135489, 38212892, 8978829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29237910		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28326674		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34088908	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	18495274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31346954		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18622386, 21423153, 22068819, 24406866, 25077440, 33725402, 35022330, 38212892, 39199357	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	18622386	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	11900566	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	24347629	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15252840		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22205702, 26830472, 29138007, 29202800, 29863249, 30272331, 30807603, 30892955, 31434836, 31640089, 32141497, 32373955, 33970103, 34173718, 35645356, 35647190, 36135759, 36242053, 36281556	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27488539	Stimulate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	12125071		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	24969562	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31476285		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31326419		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17852836, 21981776, 31326419		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31326419		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	31350544		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24148886		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38290456	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21866211, 27411924	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17852836		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22629296, 35363774, 36211816	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22629296		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	GENOMICS_ENGLAND_DG	17222817		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	18414176		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	27468715	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	11966474, 23743934, 26407074, 27829043, 28032599, 29080395, 31136293, 31864232, 32323819, 37169340	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	11696444, 19898423, 37371583	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35239721	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	36631635	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19222093, 22767590, 32432570, 36475339	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19222093, 19448425, 26916665, 32042337, 32323849, 33909822, 35457185, 35578166, 35705994, 36085568	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25008066		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	28179411		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	22832488	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	38034016	Associate	★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	10329592	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36578035	Stimulate	★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28608272		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	29294389, 29852040	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	34913073	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	38212892	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	24133624	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31749661		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	23321619		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19357285, 23482671, 34080022, 35901345, 38306361	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29731893, 7669572		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29731893, 7669572		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15527101		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19357285, 27589728, 28212546, 28851312, 32365279, 34937497, 37818686	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29731893		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	17222817		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	12125071		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28608943		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35871446	Inhibit	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32188112	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33566628	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	11900566	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33065279	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	35421402	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	19448425	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25893345		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	22405962	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21680037, 25168373, 29123322, 35059742, 36243933	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27093376, 30739528	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	22295148, 26390052, 29273797	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29273797		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35212366	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	17222817		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31585109		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31585109	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	36934253	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28608943		★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	31650526		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	25149531, 33846795	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	33336738	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	20651304		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	20651304	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19101069, 37305402	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25149531, 26592446, 37305402	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25149531		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16596172, 17944884, 18801083		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	38212892	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32396269	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	37266432	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19270647, 23520479, 24705471, 24983967, 25609022, 27073840, 28677797, 30060029, 35627232, 36517633, 40650414	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19222093, 19448425, 24418088, 25645984, 27505247, 28570699, 33761659	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27830374, 28002521	Stimulate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	GENOMICS_ENGLAND_DG	17222817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23216791, 26825466		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	27811057		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24705471, 27073840, 30127990		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30147335, 30993852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23438504		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24264315, 26458489, 27630154, 29516011, 30051594		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	27811057		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	27811057		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	27811057		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	15508347	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31346954		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10621837, 11900566, 15855653, 15987741, 16371504, 16969099, 17235241, 20738806, 20856146, 22022384, 22503751, 22810307, 23208503, 23462101, 24466036, 24558503, 27549189, 27586584, 27919967, 28056869, 30393081, 32305668, 34990694, 36361539, 37286800, 38212892, 9182820	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	11996105, 12545205, 15987741, 16371504, 16969099, 17668445		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16204047, 28930679		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	18398036	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	32968068	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11900566, 12194995	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12194995, 18973227, 38212892	Associate	★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	GENOMICS_ENGLAND_DG	17222817		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	31585109		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	30134812		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	25008066		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32928102, 36096526, 39201464	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21828122, 28008160, 30563499	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	23438504, 26194766		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23438504	Stimulate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23299311		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31350544		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	35363774	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	27393708, 31839751	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	34953475	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26461269, 27149165, 27737648, 35421264	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27149165, 28454316		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	27149165	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23669222, 26194766, 27630154, 29518783, 30147335, 30832661, 30993852		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10810377		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11232642, 14500366, 22355346, 35531888	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31585109		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	28179411		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	12125071		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14500366, 19190132, 23086683, 25595426, 27073840		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17653278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	34621242	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23321619, 26093892, 31808517		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	36378845	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24148886, 30403184, 31288825, 38423139	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	31288825	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31288825		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10550312, 29048621, 29518783, 32312946, 38538251, 39311783, 9556063	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25096247, 29518783, 30655890		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22479527, 24244294, 27144941, 28601643, 30628686, 31634778, 32547317, 32706063, 33629295, 34027641, 35953860, 36922678, 37684273, 38179758	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31177911		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18362184, 21909380, 23991074, 25421630, 27182158, 27605668, 31515968	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30414611		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	12125071		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16585154, 30147335, 30993852		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16173043		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24264315, 24418088, 26041890, 26847404, 29164579, 29300772, 30563499, 30899277, 30993852, 34399719, 34602817, 36880595	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34210319	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31476285		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	27830374	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	33098307	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	22976797	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	22738870	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	11900566, 21983934	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	11900566	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	25008066	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	11900566	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	30358221	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	26219900	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29115924		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26823791	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	37922232	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	14985090, 23086683, 30832661		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22072429, 25607384, 26040981, 28319306, 28570699, 28574664, 29216196, 31450902, 31861233, 32188112, 32701933, 33761659, 34781814, 34847839, 37077062, 39442128	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26040981		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	31326419		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	12125071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	12125071		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 16521229, 24568530, 25767376, 26271669, 26617790, 30308487, 30646925, 32357145, 32373959, 33000178, 33095806, 34078310, 34880371, 35189810, 35287556, 36157109, 36203485, 36786018, 37277751, 37573302, 37587724, 39206977, 39521152	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17512904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	28983895	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	33566628	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	30358221, 35575252	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26219900, 30175973, 30414611, 34522174, 38237535	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28042956	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35871446	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28042956, 39179334	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31648166	Stimulate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	23321619	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25953261, 28802099, 30602372, 32244385, 39819723	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27768598, 28392805		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	25149531	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16675571, 24325461, 27402302, 27683053, 30003751, 32519230, 34565009, 35669725, 37461061, 37932474	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	24829917	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15989693, 26579841, 29899322, 30720157, 30791957, 32373949, 33649791, 36088372, 37845756, 38035707	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34516350	Inhibit	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33120861	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29524576		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	22405962	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	32571273	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	37904849	Associate	★☆☆☆☆ Found in Text Mining only