Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1000
Gene name	Cadherin 2
Gene symbol	CDH2
Synonyms (NCBI Gene)	ACOGSADHD8ARVD14CD325CDHNCDw325NCAD
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

Show/Hide all (9)

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

136

Show/Hide all (136)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005821	hsa-miR-204-5p	Microarray	21282569
MIRT005889	hsa-miR-194-5p	Luciferase reporter assayqRT-PCRWestern blot	20979124
MIRT005889	hsa-miR-194-5p	Luciferase reporter assayqRT-PCRWestern blot	20979124
MIRT007288	hsa-miR-145-5p	Luciferase reporter assayWestern 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-PCRWestern blot	21845495
MIRT007288	hsa-miR-145-5p	Microarray	22942087
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assayWestern blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCRLuciferase reporter assayWestern 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 assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern 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 assayqRT-PCRWestern 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

Show/Hide all (11)

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

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Show/Hide all (104)

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

MIM	HGNC	e!Ensembl
114020	1759	ENSG00000170558

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

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy		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

140

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Arrhythmogenic right ventricular dysplasia, familial, 14	Likely pathogenic; Pathogenic	rs2143975765, rs2510799501, rs965753331	RCV002248984 RCV004017191 RCV001194670
Attention deficit-hyperactivity disorder 8	Likely pathogenic	rs2510816952	RCV004584230
Auditory neuropathy	Likely pathogenic	rs777374626	RCV003484486
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
CDH2-related disorder	Pathogenic	rs199984052	RCV000991214
Cerebral arteriovenous malformation	Likely pathogenic	rs1555630396	RCV000656331
Corpus callosum, agenesis of	Pathogenic; Likely pathogenic	rs199984052, rs1598982483, rs1598982488, rs1599010918, rs754880999, rs201775968, rs1599011050, rs1599017933	RCV001007458 RCV001007460 RCV001007459 RCV001007457 RCV001007456 RCV001007455 RCV001007454 RCV001007453 RCV001007452
Syndromic neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs199984052, rs1598982483, rs1598982488, rs1599010918, rs1599011050, rs1599017933	RCV001261829 RCV001261831 RCV001261830 RCV001261828 RCV001261827 RCV001261826

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs17445840	RCV005924701
Arrhythmogenic right ventricular cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs199638301, rs188546474	RCV005361832 RCV005356135
Cardiovascular phenotype	Uncertain significance	rs199882009, rs750540712, rs753513462, rs758212729	RCV005405776 RCV005405966 RCV005406144 RCV005404768
Colon adenocarcinoma	Benign; Likely benign	rs17445840	RCV005924700
Colorectal cancer	Benign; Likely benign	rs17445840	RCV005924702
Primary dilated cardiomyopathy	Uncertain significance	rs763345128	RCV003319256
Thymoma	Benign; Likely benign	rs17445840	RCV005924703
Thyroid cancer, nonmedullary, 1	Likely benign	rs757405709	RCV005935019
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs17445840, rs758403489	RCV005924704 RCV005936582

Show/Hide Text Mining Associations (223)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	26272359
Acrocephalosyndactylia	Associate	11341328
Adenocarcinoma	Associate	12194995
Adenocarcinoma of Lung	Associate	24705471, 29311567, 34118147, 35242247, 38182570
Adenocarcinoma of Lung	Inhibit	28077118, 29116025
Adenolymphoma	Associate	22738870
Adenoma	Associate	23029563
Adenoma Liver Cell	Associate	36010583
Adenomyosis	Associate	26307032
Adrenocortical Carcinoma	Associate	27468715
Agenesis of Corpus Callosum	Associate	31585109
Alzheimer Disease	Associate	29406991
Aneurysm Ascending Aorta	Associate	28935963
Aortic Dissection	Associate	36959563
Arrhythmogenic Right Ventricular Dysplasia	Associate	26549284, 33566628
Arthritis Rheumatoid	Associate	35904110
Autism Spectrum Disorder	Associate	23321619
Autistic Disorder	Associate	31808517
Biliary Atresia	Associate	30906331
Bone Diseases	Associate	21828122
Brain Neoplasms	Inhibit	19270647
Brain Neoplasms	Associate	21170270, 23097623
Brain Neoplasms	Stimulate	28952213
Breast Neoplasms	Associate	10545506, 14654713, 21347235, 21983900, 22012049, 22569290, 23438504, 24962344, 25031724, 25733818, 26702618, 28112378, 29123322, 29183998, 29575368 View all (14 more)
Breast Neoplasms	Stimulate	26150337, 32188112, 36315446
Calcinosis Cutis	Inhibit	22355346
Calcinosis Cutis	Associate	27919967
Carbon Monoxide Poisoning	Associate	35140817
Carcinogenesis	Associate	16521229, 19671168, 27468715, 28042956, 28570699
Carcinoma Ductal	Associate	22012049, 25645984, 30228172
Carcinoma Ductal Breast	Associate	22012049
Carcinoma Endometrioid	Associate	29237910
Carcinoma Hepatocellular	Associate	22488108, 25753478, 26165819, 26404322, 27611941, 31969493, 32829570, 32904434, 33176600, 33179108, 33336733, 33642822, 35260047, 35345355, 36010583, 37138218, 38212892 View all (2 more)
Carcinoma Intraductal Noninfiltrating	Associate	27247112, 35880695
Carcinoma Large Cell	Associate	12771988
Carcinoma Lobular	Associate	30228172
Carcinoma Merkel Cell	Associate	10923074
Carcinoma Non Small Cell Lung	Associate	12771988, 27073840, 27489122, 28508744, 30453281, 31210311, 31438892, 33108235, 34346845
Carcinoma Ovarian Epithelial	Associate	28097141
Carcinoma Pancreatic Ductal	Associate	25799022, 26219899, 31177911
Carcinoma Renal Cell	Associate	22888908, 30816490, 31692936, 31702026, 31915310, 32196582, 32633350, 33215419, 33850477, 34621242, 35414767, 36106411
Carcinoma Small Cell	Associate	12657131
Carcinoma Squamous Cell	Associate	19270647, 26617850, 27223886, 31886179, 35135489, 38212892, 8978829
Cardiomyopathy Dilated	Associate	34088908
Cholangiocarcinoma	Associate	18622386, 21423153, 22068819, 24406866, 25077440, 33725402, 35022330, 38212892, 39199357
Cholestasis Intrahepatic	Associate	18622386
Chordoma	Associate	11900566
Chronic Periodontitis	Associate	24347629
Clear cell metastatic renal cell carcinoma	Associate	11696444
Colorectal Neoplasms	Associate	22205702, 26830472, 29138007, 29202800, 29863249, 30272331, 30807603, 30892955, 31434836, 31640089, 32141497, 32373955, 33970103, 34173718, 35645356 View all (4 more)
Colorectal Neoplasms	Stimulate	27488539
Congenital contractural arachnodactyly	Associate	24969562
Death	Associate	27586584, 31655611
Death Sudden Cardiac	Associate	33566628
Developmental Disabilities	Associate	31585109
Diabetes Gestational	Associate	38290456
Diabetes Mellitus	Associate	21866211, 27411924
Diabetic Nephropathies	Associate	22629296, 35363774, 36211816
Drug Related Side Effects and Adverse Reactions	Associate	25733818
Duane Retraction Syndrome	Associate	31585109
Ectodermal Dysplasia	Inhibit	27468715
Ehlers Danlos syndrome type 3	Associate	27518164
Endodermal Sinus Tumor	Associate	30358221
Endometrial Neoplasms	Associate	11966474, 23743934, 26407074, 27829043, 28032599, 29080395, 31136293, 31864232, 32323819, 37169340
Endometriosis	Associate	11696444, 19898423, 37371583
Endometritis	Associate	33826645
Eosinophilic Esophagitis	Associate	35239721
Epidermolysis bullosa with pyloric atresia	Associate	36631635
Esophageal Neoplasms	Associate	19222093, 22767590, 32432570, 36475339
Esophageal Squamous Cell Carcinoma	Associate	19222093, 19448425, 26916665, 32042337, 32323849, 33909822, 35457185, 35578166, 35705994, 36085568
Euthyroid Sick Syndromes	Associate	29216196
Eye Abnormalities	Associate	31585109
Familial cylindromatosis	Inhibit	22832488
Fatty Liver	Associate	38034016
Fibrocartilaginous embolism	Associate	25749011
Fibrosis	Associate	25149531, 30906331, 33860034, 40649899
Fibrous Dysplasia of Bone	Associate	35454175
Follicular Cyst	Associate	10329592
Frontotemporal Dementia	Stimulate	36578035
Fuchs' Endothelial Dystrophy	Associate	29294389, 29852040
Gallbladder Neoplasms	Associate	34913073
Gastrointestinal Neoplasms	Associate	38212892
Gastrointestinal Stromal Tumors	Associate	24133624
Glioblastoma	Associate	19357285, 23482671, 34080022, 35901345, 38306361
Glioma	Associate	19357285, 27589728, 28212546, 28851312, 32365279, 34937497, 37818686
Hashimoto Disease	Inhibit	35871446
Head and Neck Neoplasms	Associate	32188112
Heart Diseases	Associate	31585109
Heart Failure	Associate	33566628
Hemangiosarcoma	Associate	11900566
Hematoma Subdural Chronic	Associate	38030262
Hepatitis Viral Human	Associate	21423153
Heroin Dependence	Associate	28358908
HIV Infections	Associate	28358908
Huntington Disease	Associate	33065279
Hyperkeratosis Epidermolytic	Inhibit	35421402
Hyperplasia	Associate	19448425
Hypomagnesemia primary	Associate	26579841
Hypoplastic Left Heart Syndrome	Associate	22405962
Hypoxia	Stimulate	21680037, 25168373, 29123322, 35059742, 36243933
Hypoxia	Inhibit	27093376, 30739528
Hypoxia Brain	Associate	21887310
Hypoxia Brain	Stimulate	29592811
Idiopathic Pulmonary Fibrosis	Associate	22295148, 26390052, 29273797
Infarction Anterior Cerebral Artery	Inhibit	27468715
Infections	Stimulate	36157109
Inflammatory Bowel Diseases	Associate	35212366
Intellectual Disability	Associate	31585109
Intracranial Arteriovenous Malformations	Associate	36934253
Kidney Neoplasms	Associate	25149531, 33846795
Klatskin Tumor	Associate	18622386
Laryngeal Neoplasms	Associate	33336738
Leiomyosarcoma	Associate	20651304
Leukemia	Associate	19101069, 37305402
Leukemia Myeloid Acute	Associate	25149531, 26592446, 37305402
Liver Failure	Associate	38212892
Lung Diseases	Stimulate	32396269
Lung Diseases Interstitial	Associate	37266432
Lung Neoplasms	Associate	19270647, 23520479, 24705471, 24983967, 25609022, 27073840, 28677797, 30060029, 35627232, 36517633, 40650414
Lymphatic Diseases	Associate	33761659
Lymphatic Metastasis	Associate	19222093, 19448425, 24418088, 25645984, 27505247, 28570699, 33761659
Lymphatic Metastasis	Stimulate	27830374, 28002521
Lymphoma Large B Cell Diffuse	Associate	40459191
Lymphoma Non Hodgkin	Associate	29216196
Malignant mesenchymal tumor	Associate	10550312, 27571935
Mannose Binding Protein Deficiency	Associate	33610554
Medulloblastoma	Associate	15508347
Melanoma	Associate	10621837, 11900566, 15855653, 15987741, 16371504, 16969099, 17235241, 20738806, 20856146, 22022384, 22503751, 22810307, 23208503, 23462101, 24466036 View all (12 more)
Melanoma Cutaneous Malignant	Associate	18398036
Melanosis	Associate	24940649
Meningioma	Associate	32968068
Mental Disorders	Associate	23321619
Mesenchymoma	Associate	30272331
Mesothelioma	Associate	11900566, 12194995
Mesothelioma Malignant	Associate	12194995, 18973227, 38212892
Monoclonal Gammopathy of Undetermined Significance	Associate	30134812
Mouth Neoplasms	Associate	32928102, 36096526, 39201464
Multiple Myeloma	Associate	21828122, 28008160, 30563499
Multiple Myeloma	Stimulate	23438504
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	31464093
Myotonic Dystrophy	Associate	35363774
Nasal Polyps	Associate	27393708, 31839751
Nasal Polyps	Stimulate	34953475
Nasopharyngeal Carcinoma	Associate	26461269, 27149165, 27737648, 35421264
Nasopharyngeal Neoplasms	Associate	27149165
Neoplasm Invasiveness	Associate	16675571, 25077440, 26617850, 36418517
Neoplasm Metastasis	Inhibit	10550312, 24059685
Neoplasm Metastasis	Associate	18362184, 19448425, 21170270, 22302998, 22355346, 22976797, 23520479, 24418088, 24962344, 25077440, 25230372, 26219900, 26702618, 27586584, 28056869 View all (17 more)
Neoplasm Metastasis	Stimulate	31947504
Neoplasms	Associate	11121435, 11438452, 11900566, 12095980, 12414534, 12771988, 16675571, 18362184, 18398036, 18505915, 19222093, 19448425, 19584275, 19898423, 21170270 View all (56 more)
Neoplasms	Inhibit	12657131, 26045824
Neoplasms	Stimulate	23251387, 26297435, 28002521, 28802099, 30993852, 32668208
Neoplasms Germ Cell and Embryonal	Associate	30358221
Neoplasms Squamous Cell	Associate	29081407
Neural crest tumor	Associate	38212892
Neurilemmoma	Associate	22247700
Neuroblastoma	Associate	11232642, 14500366, 22355346, 35531888
Neuroendocrine Tumors	Associate	38212892
Norrie disease	Associate	25749011
Obesity	Associate	34621242
Obsessive Compulsive Disorder	Associate	23321619, 31808517
Odontogenic Tumors	Associate	25879017
Oropharyngeal Neoplasms	Associate	36378845
Osteoarthritis	Associate	24148886, 30403184, 31288825, 38423139
Osteoarthritis Knee	Associate	31288825
Osteosarcoma	Associate	10550312, 29048621, 29518783, 32312946, 38538251, 39311783, 9556063
Ovarian Neoplasms	Associate	22479527, 24244294, 27144941, 28601643, 30628686, 31634778, 32547317, 32706063, 33629295, 34027641, 35953860, 36922678, 37684273, 38179758
Pancreatic Neoplasms	Associate	18362184, 21909380, 23991074, 25421630, 27182158, 27605668, 31515968
Placenta Accreta	Stimulate	31322233
Prostatic Neoplasms	Associate	24264315, 24418088, 26041890, 26847404, 29164579, 29300772, 30563499, 30899277, 30993852, 34399719, 34602817, 36880595
Prostatic Neoplasms Castration Resistant	Associate	31464093, 32091413
Prostatitis	Associate	21315068, 34602817, 36232736
Pseudomyxoma Peritonei	Associate	17031402
Pterygium	Associate	33299863
Pulmonary Disease Chronic Obstructive	Stimulate	34210319
Radicular Cyst	Associate	25879017
Renal cell carcinoma 1	Stimulate	25609022
Respiratory Tract Infections	Associate	27830374
Retinal Vein Occlusion	Associate	36820679
Retinoblastoma	Associate	33098307
Retrograde Degeneration	Associate	31585109
Rhabdomyosarcoma	Associate	22976797
Salivary Gland Neoplasms	Associate	22738870
Sarcoma	Associate	11900566, 21983934
Sarcoma Clear Cell	Associate	11900566
Sarcoma Ewing	Associate	25008066
Sarcoma Synovial	Associate	11900566
Seminoma	Associate	30358221
Sexual Dysfunction Physiological	Associate	35920182
Sick Sinus Syndrome	Associate	26219900
Small Cell Lung Carcinoma	Associate	26823791
Spherocytosis Type 1	Associate	37922232
Squamous Cell Carcinoma of Head and Neck	Associate	22072429, 25607384, 26040981, 28319306, 28570699, 28574664, 29216196, 31450902, 31861233, 32188112, 32701933, 33761659, 34781814, 34847839, 37077062, 39442128 View all (1 more)
Stomach Neoplasms	Associate	16367923, 16521229, 24568530, 25767376, 26271669, 26617790, 30308487, 30646925, 32357145, 32373959, 33000178, 33095806, 34078310, 34880371, 35189810 View all (9 more)
Stomach Neoplasms	Inhibit	28983895
Syndrome	Associate	31585109
Tachycardia Ventricular	Associate	33566628
Tarlov Cysts	Associate	22738870
Tertiary Lymphoid Structures	Associate	28112378
Testicular Germ Cell Tumor	Associate	30358221, 35575252
Thyroid Cancer Papillary	Associate	26219900, 30175973, 30414611, 34522174, 38237535
Thyroid Cancer Papillary	Stimulate	28042956
Thyroid Cancer Papillary	Inhibit	35871446
Thyroid Neoplasms	Associate	28042956, 39179334
Thyroid Neoplasms	Stimulate	31648166
Tissue Adhesions	Associate	33860034
Tourette Syndrome	Associate	23321619
Triple Negative Breast Neoplasms	Associate	25953261, 28802099, 30602372, 32244385, 39819723
Tuberous Sclerosis 1	Inhibit	25149531
Typical Teratoid Rhabdoid Tumor	Associate	15508347
Urethral Neoplasms	Associate	28002521
Urethritis	Associate	38212892
Urinary Bladder Neoplasms	Associate	16675571, 24325461, 27402302, 27683053, 30003751, 32519230, 34565009, 35669725, 37461061, 37932474
Urinary Bladder Overactive	Associate	24829917
Uterine Cervical Neoplasms	Associate	15989693, 26579841, 29899322, 30720157, 30791957, 32373949, 33649791, 36088372, 37845756, 38035707
Uterine Cervical Neoplasms	Inhibit	34516350
Uterine Cervicitis	Associate	35144405
Uveal melanoma	Associate	33120861
Varicella Zoster Virus Infection	Associate	30835269
Ventricular Remodeling	Associate	22405962
Virus Diseases	Associate	21423153
Waldenstrom Macroglobulinemia	Associate	32571273
Wilms Tumor	Associate	37904849

CDH2 (cadherin 2)