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	1009
Gene name	Cadherin 11
Gene symbol	CDH11
Synonyms (NCBI Gene)	CAD11CDHOBESWSOBOSF-4TBHS2
Chromosome	16
Chromosome location	16q21
Summary	This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555514463	AG>CTGATGATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555515331	C>A	Pathogenic	Splice donor variant
rs1555515924	G>C	Pathogenic	Stop gained, coding sequence variant

215

Show/Hide all (215)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018564	hsa-miR-335-5p	Microarray	18185580
MIRT022977	hsa-miR-124-3p	Microarray	18668037
MIRT054102	hsa-miR-200c-3p	ImmunohistochemistryLuciferase reporter assayMicroarrayQRTPCR	23497265
MIRT732299	hsa-miR-27b-3p	Luciferase reporter assayqRT-PCRWestern blot	26706910
MIRT732299	hsa-miR-27b-3p	Luciferase reporter assayqRT-PCRWestern blot	26706910
MIRT735017	hsa-miR-181a-5p	qRT-PCR	33102604
MIRT736395	hsa-miR-127-3p	Luciferase reporter assayWestern blottingqRT-PCR	33574696
MIRT879295	hsa-miR-101	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879297	hsa-miR-127-5p	CLIP-seq
MIRT879298	hsa-miR-1279	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879301	hsa-miR-151-3p	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879304	hsa-miR-204	CLIP-seq
MIRT879305	hsa-miR-205	CLIP-seq
MIRT879306	hsa-miR-211	CLIP-seq
MIRT879307	hsa-miR-2113	CLIP-seq
MIRT879308	hsa-miR-223	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT879311	hsa-miR-3141	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879313	hsa-miR-3145-3p	CLIP-seq
MIRT879314	hsa-miR-3152-5p	CLIP-seq
MIRT879315	hsa-miR-3161	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT879317	hsa-miR-3662	CLIP-seq
MIRT879318	hsa-miR-376c	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT879320	hsa-miR-4279	CLIP-seq
MIRT879321	hsa-miR-4289	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT879323	hsa-miR-4420	CLIP-seq
MIRT879324	hsa-miR-4422	CLIP-seq
MIRT879325	hsa-miR-4446-5p	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879328	hsa-miR-4697-3p	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT879330	hsa-miR-4709-5p	CLIP-seq
MIRT879331	hsa-miR-4755-5p	CLIP-seq
MIRT879332	hsa-miR-4774-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT879335	hsa-miR-539	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT879341	hsa-miR-623	CLIP-seq
MIRT879342	hsa-miR-758	CLIP-seq
MIRT879295	hsa-miR-101	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT1546367	hsa-miR-2964a-5p	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT1546368	hsa-miR-3183	CLIP-seq
MIRT1546369	hsa-miR-3607-3p	CLIP-seq
MIRT1546370	hsa-miR-3686	CLIP-seq
MIRT1546371	hsa-miR-3713	CLIP-seq
MIRT1546372	hsa-miR-3909	CLIP-seq
MIRT1546373	hsa-miR-4328	CLIP-seq
MIRT1546374	hsa-miR-4477a	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT879330	hsa-miR-4709-5p	CLIP-seq
MIRT1546375	hsa-miR-4723-3p	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT879313	hsa-miR-3145-3p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT879323	hsa-miR-4420	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT879296	hsa-miR-1206	CLIP-seq
MIRT879299	hsa-miR-128	CLIP-seq
MIRT2427228	hsa-miR-1297	CLIP-seq
MIRT879300	hsa-miR-144	CLIP-seq
MIRT2427229	hsa-miR-198	CLIP-seq
MIRT879302	hsa-miR-200b	CLIP-seq
MIRT879303	hsa-miR-200c	CLIP-seq
MIRT879307	hsa-miR-2113	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2427231	hsa-miR-2355-3p	CLIP-seq
MIRT2427232	hsa-miR-26a	CLIP-seq
MIRT2427233	hsa-miR-26b	CLIP-seq
MIRT879309	hsa-miR-27a	CLIP-seq
MIRT879310	hsa-miR-27b	CLIP-seq
MIRT1546367	hsa-miR-2964a-5p	CLIP-seq
MIRT879312	hsa-miR-3143	CLIP-seq
MIRT879316	hsa-miR-3163	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1546372	hsa-miR-3909	CLIP-seq
MIRT2427235	hsa-miR-3976	CLIP-seq
MIRT2427236	hsa-miR-4263	CLIP-seq
MIRT879319	hsa-miR-4277	CLIP-seq
MIRT879322	hsa-miR-429	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1546373	hsa-miR-4328	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2427239	hsa-miR-4465	CLIP-seq
MIRT1546374	hsa-miR-4477a	CLIP-seq
MIRT2427240	hsa-miR-4477b	CLIP-seq
MIRT879326	hsa-miR-4666-5p	CLIP-seq
MIRT879327	hsa-miR-4678	CLIP-seq
MIRT879329	hsa-miR-4699-3p	CLIP-seq
MIRT2427241	hsa-miR-4735-5p	CLIP-seq
MIRT2427242	hsa-miR-4775	CLIP-seq
MIRT2427243	hsa-miR-498	CLIP-seq
MIRT879334	hsa-miR-513a-5p	CLIP-seq
MIRT2427244	hsa-miR-520a-5p	CLIP-seq
MIRT2427245	hsa-miR-524-3p	CLIP-seq
MIRT2427246	hsa-miR-525-3p	CLIP-seq
MIRT2427247	hsa-miR-525-5p	CLIP-seq
MIRT879335	hsa-miR-539	CLIP-seq
MIRT879336	hsa-miR-543	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT879338	hsa-miR-548m	CLIP-seq
MIRT2427248	hsa-miR-576-5p	CLIP-seq
MIRT2427249	hsa-miR-590-3p	CLIP-seq
MIRT879339	hsa-miR-595	CLIP-seq
MIRT879340	hsa-miR-600	CLIP-seq
MIRT2427250	hsa-miR-656	CLIP-seq
MIRT2427251	hsa-miR-676	CLIP-seq
MIRT879342	hsa-miR-758	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2427228	hsa-miR-1297	CLIP-seq
MIRT2427232	hsa-miR-26a	CLIP-seq
MIRT2427233	hsa-miR-26b	CLIP-seq
MIRT2427239	hsa-miR-4465	CLIP-seq
MIRT2427243	hsa-miR-498	CLIP-seq
MIRT879337	hsa-miR-548c-3p	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2500587	hsa-miR-297	CLIP-seq
MIRT2500588	hsa-miR-3064-5p	CLIP-seq
MIRT2500589	hsa-miR-3115	CLIP-seq
MIRT2500590	hsa-miR-3126-3p	CLIP-seq
MIRT2500591	hsa-miR-3128	CLIP-seq
MIRT2500592	hsa-miR-3149	CLIP-seq
MIRT2500593	hsa-miR-320e	CLIP-seq
MIRT2500594	hsa-miR-335	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2500595	hsa-miR-4503	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT2500596	hsa-miR-4720-5p	CLIP-seq
MIRT2500597	hsa-miR-4799-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2500598	hsa-miR-629	CLIP-seq
MIRT2427250	hsa-miR-656	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq
MIRT2427230	hsa-miR-214	CLIP-seq
MIRT2500587	hsa-miR-297	CLIP-seq
MIRT2500588	hsa-miR-3064-5p	CLIP-seq
MIRT2500589	hsa-miR-3115	CLIP-seq
MIRT2500590	hsa-miR-3126-3p	CLIP-seq
MIRT2500591	hsa-miR-3128	CLIP-seq
MIRT2500592	hsa-miR-3149	CLIP-seq
MIRT2500593	hsa-miR-320e	CLIP-seq
MIRT2500594	hsa-miR-335	CLIP-seq
MIRT2427234	hsa-miR-3619-5p	CLIP-seq
MIRT1960644	hsa-miR-3658	CLIP-seq
MIRT2427237	hsa-miR-4291	CLIP-seq
MIRT1960645	hsa-miR-4426	CLIP-seq
MIRT2427238	hsa-miR-4427	CLIP-seq
MIRT2500595	hsa-miR-4503	CLIP-seq
MIRT1960646	hsa-miR-4647	CLIP-seq
MIRT1960647	hsa-miR-4662b	CLIP-seq
MIRT2500596	hsa-miR-4720-5p	CLIP-seq
MIRT2500597	hsa-miR-4799-3p	CLIP-seq
MIRT879333	hsa-miR-494	CLIP-seq
MIRT1960648	hsa-miR-548p	CLIP-seq
MIRT1960649	hsa-miR-564	CLIP-seq
MIRT2500598	hsa-miR-629	CLIP-seq
MIRT2427252	hsa-miR-761	CLIP-seq
MIRT2427253	hsa-miR-802	CLIP-seq
MIRT2427254	hsa-miR-922	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
AR	Unknown	20191612

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0001501	Process	Skeletal system development	TAS	8163513
GO:0001503	Process	Ossification	NAS	8163513
GO:0003189	Process	Aortic valve formation	ISS	26188246
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0007043	Process	Cell-cell junction assembly	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	8163513
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	ISS	26188246
GO:0021957	Process	Corticospinal tract morphogenesis	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	33811546
GO:0031589	Process	Cell-substrate adhesion	IMP	33811546
GO:0034332	Process	Adherens junction organization	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048041	Process	Focal adhesion assembly	IMP	33811546
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
600023	1750	ENSG00000140937

P55287

Protein name

Cadherin-11 (OSF-4) (Osteoblast cadherin) (OB-cadherin)

Protein function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	59 → 150	Cadherin domain	Domain
PF00028	Cadherin	164 → 259	Cadherin domain	Domain
PF00028	Cadherin	273 → 375	Cadherin domain	Domain
PF00028	Cadherin	388 → 479	Cadherin domain	Domain
PF01049	Cadherin_C	641 → 789	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in brain but also found in other tissues. Expressed in neuroblasts. In the embryo from 67 to 72 days of gestation, detected at high levels in facial mesenchyme including the central palatal mesenchyme, dental mesenchym

Sequence

MKENYCLQAALVCLGMLCHSHAFAPERRGHLRPSFHGHHEKGKEGQVLQRSKRGWVWNQF
FVIEEYTGPDPVLVGRLHSDIDSGDGNIKYILSGEGAGTIFVIDDKSGNIHATKTLDREE
RAQYTLMAQAVDRDTNRPLEPPSEFIVKVQDINDNPPEFLHETYHANVPERSNVGTSVIQ
VTASDADDPTYGNSAKLVYSILEGQPYFSVEAQTGIIRTALPNMDREAKEEYHVVIQAKD
MGGHMGGLSGTTKVTITLTDVNDNPPKFPQSVYQMSVSEAAVPGEEVGRVKAKDPDIGEN
GLVTYNIVDGDGMESFEITTDYETQEGVIKLKKPVDFETKRAYSLKVEAANVHIDPKFIS
NGPFKDTVTVKISVEDADEPPMFLAPSYIHEVQENAAAGTVVGRVHAKDPDAANSPIRYS
IDRHTDLDRFFTINPEDGFIKTTKPLDREETAWLNITVFAAEIHNRHQEAKVPVAIRVLD
VNDNAPKFAAPYEGFICESDQTKPLSNQPIVTISADDKDDTANGPRFIFSLPPEIIHNPN
FTVRDNRDNTAGVYARRGGFSRQKQDLYLLPIVISDGGIPPMSSTNTLTIKVCGCDVNGA
LLSCNAEAYILNAGLSTGALIAILACIVILLVIVVLFVTLRRQKKEPLIVFEEEDVRENI
ITYDDEGGGEEDTEAFDIATLQNPDGINGFIPRKDIKPEYQYMPRPGLRPAPNSVDVDDF
INTRIQEADNDPTAPPYDSIQIYGYEGRGSVAGSLSSLESATTDSDLDYDYLQNWGPRFK
KLADLYGSKDTFDDDS

Sequence length

796

Interactions

View interactions

	Reactome
			Adherens junctions interactions

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Elsahy-Waters syndrome	Likely pathogenic; Pathogenic	rs2142492118, rs1555515331, rs1555514463, rs1555515924	RCV004785330 RCV003314254 RCV000626316 RCV000626317 RCV000626318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teebi hypertelorism syndrome 2	Pathogenic; Likely pathogenic	rs2142480699, rs2142528709, rs1000294766, rs2142492118, rs2142459670, rs2142481275, rs2506893332	RCV001823799 RCV001823800 RCV001823801 RCV001823802 RCV001823803 RCV001823804 RCV003387444 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BRANCHIO-SKELETO-GENITAL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRANCHIOSKELETOGENITAL SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDH11-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oromandibular-limb hypogenesis spectrum	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (168)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28292214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	19097204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28854563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelia involving the lower limbs	Amelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	39675431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26212797	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	24356423, 30359089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	36809926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21798287, 24681547, 25173800, 28115292, 30359089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19274078, 21385358, 22127696, 25975695, 26134265, 29476097, 30828336, 30876808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11269942		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	24839052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24839052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	34051265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24839052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24839052, 31046797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31046797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27363029	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	21876473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharochalasis	Blepharochalasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23951053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Branchio-skeleto-genital syndrome	Brachioskeletogenital syndrome	BEFREE	28988429, 29271567, 30194892		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-skeleto-genital syndrome	Brachioskeletogenital syndrome	ORPHANET_DG	28988429, 29271567		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-skeleto-genital syndrome	Brachioskeletogenital syndrome	GENOMICS_ENGLAND_DG	29271567		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-skeleto-genital syndrome	Brachioskeletogenital syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchioskeletogenital syndrome	Branchioskeletogenital Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	10029089, 24681547, 24810778, 29296180, 30691241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11775026, 19274078, 33899544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	36809926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22968929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10550312, 22139084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32311840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30290240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20121140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31689861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18821672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22127696	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	28854563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28292214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	14675328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30509494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28854563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31504344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24025712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22968929, 36377223, 40001597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absent nipple	Congenital Absent Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	26121083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31504344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20060954, 21798287, 31829201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentin dysplasia, type 1	Dentin Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28758901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28758901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33102604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28854563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25811593	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26092671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exodeviation	Exodeviation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16107186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30509494, 31269038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	14675328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	14675328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21722156, 23951053, 30876808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21722156, 23951053, 30876808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21722156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22374749, 27397103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33811546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	26671310	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	14675328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	14675328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	14675328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	35421402	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias, penoscrotal	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21990376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	16107186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34051265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	9767543	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28422868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30509494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	27855278, 36610328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	18821672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27513329, 30290240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28854563	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21722156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22374749, 27397103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	17062665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10029089, 12438268, 24681547, 24810778, 29296180, 30691241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30290240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31689861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27855278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18708358, 20191612, 20484040, 23490727, 23913163, 25466890, 26519476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30323620, 30987656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22374749, 24681547, 25687954, 29805672, 31248373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24025712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18193170, 18575746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24681547, 24810778		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22374749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24999589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	24839052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31534054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	37979904	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10029089, 10550312, 10861576, 15383628, 17099872, 18211953, 20191612, 22139084, 22374749, 23675755, 23951053, 25687954, 27397103, 27750399, 28449806, 29075357 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10861576, 20187302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	24681547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28758901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	8532024, 8751871, 9153282, 9555938, 9842990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	17986612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	20060954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	23971040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10550312, 18359978, 29181064, 9556063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10550312, 18359978, 23971040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	18359978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	26178921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31689861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31689861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27855278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27855278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	27855278	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	25173800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28292214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18708358, 20191612, 20484040, 23490727, 23913163, 25466890, 26519476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18057003, 20484040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18708358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21990376, 31269038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	26121083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	10398117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10398117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15383628, 17099872, 18785023, 27750399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	15383628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34285060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15611293, 19274078, 19404963, 21798287, 24574497, 24681547, 25173800, 28115292, 30186380, 30828336, 30876808, 31534054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10550312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	38113033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22765916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	26671310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18490578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27397103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30323620, 30987656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26769141, 30987656, 32463580, 36610328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	18821672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31829201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	24757152, 26121083, 28115292, 31436586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30691241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25546151, 31504344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Upper limb peromelia	Upper limb peromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36595851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15989693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CDH11 (cadherin 11)