CTNND2 (catenin delta 2)

Gene

• Entrez ID: 1501
• Gene name: Catenin delta 2
• Gene symbol: CTNND2
• Synonyms (NCBI Gene): GT24, NPRAP
• Chromosome: 5
• Chromosome location: 5p15.2
• Summary: This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886041494	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1057518120	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, intron variant
rs1064796494	G>T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, intron variant
rs1554008611	T>C	Likely-pathogenic	Splice acceptor variant
rs1554046915	T>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1561136548	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1580669869	->CC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1581078962	C>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735742	hsa-miR-218-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31520422
MIRT915178	hsa-miR-1286	CLIP-seq
MIRT915179	hsa-miR-218	CLIP-seq
MIRT915180	hsa-miR-23a	CLIP-seq
MIRT915181	hsa-miR-23b	CLIP-seq
MIRT915182	hsa-miR-23c	CLIP-seq
MIRT915183	hsa-miR-3074-3p	CLIP-seq
MIRT915184	hsa-miR-337-3p	CLIP-seq
MIRT915185	hsa-miR-3607-3p	CLIP-seq
MIRT915186	hsa-miR-3614-3p	CLIP-seq
MIRT915187	hsa-miR-3667-3p	CLIP-seq
MIRT915188	hsa-miR-3671	CLIP-seq
MIRT915189	hsa-miR-3686	CLIP-seq
MIRT915190	hsa-miR-3688-3p	CLIP-seq
MIRT915191	hsa-miR-3691-5p	CLIP-seq
MIRT915192	hsa-miR-4297	CLIP-seq
MIRT915193	hsa-miR-431	CLIP-seq
MIRT915194	hsa-miR-4438	CLIP-seq
MIRT915195	hsa-miR-4652-3p	CLIP-seq
MIRT915196	hsa-miR-4659a-3p	CLIP-seq
MIRT915197	hsa-miR-4659b-3p	CLIP-seq
MIRT915198	hsa-miR-4711-3p	CLIP-seq
MIRT915199	hsa-miR-4719	CLIP-seq
MIRT915200	hsa-miR-4720-3p	CLIP-seq
MIRT915201	hsa-miR-4722-5p	CLIP-seq
MIRT915202	hsa-miR-4731-3p	CLIP-seq
MIRT915203	hsa-miR-4752	CLIP-seq
MIRT915204	hsa-miR-4768-3p	CLIP-seq
MIRT915205	hsa-miR-4778-3p	CLIP-seq
MIRT915206	hsa-miR-4778-5p	CLIP-seq
MIRT915207	hsa-miR-4801	CLIP-seq
MIRT915208	hsa-miR-4804-3p	CLIP-seq
MIRT915209	hsa-miR-495	CLIP-seq
MIRT915210	hsa-miR-499-3p	CLIP-seq
MIRT915211	hsa-miR-499a-3p	CLIP-seq
MIRT915212	hsa-miR-513a-3p	CLIP-seq
MIRT915213	hsa-miR-523	CLIP-seq
MIRT915214	hsa-miR-581	CLIP-seq
MIRT915215	hsa-miR-586	CLIP-seq
MIRT915216	hsa-miR-636	CLIP-seq
MIRT1971449	hsa-miR-1203	CLIP-seq
MIRT1971450	hsa-miR-1208	CLIP-seq
MIRT1971451	hsa-miR-1279	CLIP-seq
MIRT915180	hsa-miR-23a	CLIP-seq
MIRT915181	hsa-miR-23b	CLIP-seq
MIRT915182	hsa-miR-23c	CLIP-seq
MIRT915183	hsa-miR-3074-3p	CLIP-seq
MIRT1971452	hsa-miR-3160-5p	CLIP-seq
MIRT1971453	hsa-miR-339-3p	CLIP-seq
MIRT1971454	hsa-miR-361-5p	CLIP-seq
MIRT1971455	hsa-miR-3691-3p	CLIP-seq
MIRT1971456	hsa-miR-4307	CLIP-seq
MIRT1971457	hsa-miR-4661-3p	CLIP-seq
MIRT915199	hsa-miR-4719	CLIP-seq
MIRT915202	hsa-miR-4731-3p	CLIP-seq
MIRT915207	hsa-miR-4801	CLIP-seq
MIRT915215	hsa-miR-586	CLIP-seq
MIRT1971458	hsa-miR-651	CLIP-seq
MIRT2207151	hsa-miR-1297	CLIP-seq
MIRT2207152	hsa-miR-141	CLIP-seq
MIRT2207153	hsa-miR-200a	CLIP-seq
MIRT2207154	hsa-miR-200b	CLIP-seq
MIRT2207155	hsa-miR-200c	CLIP-seq
MIRT915180	hsa-miR-23a	CLIP-seq
MIRT915181	hsa-miR-23b	CLIP-seq
MIRT915182	hsa-miR-23c	CLIP-seq
MIRT2207156	hsa-miR-26a	CLIP-seq
MIRT2207157	hsa-miR-26b	CLIP-seq
MIRT915183	hsa-miR-3074-3p	CLIP-seq
MIRT2207158	hsa-miR-3125	CLIP-seq
MIRT1971452	hsa-miR-3160-5p	CLIP-seq
MIRT1971454	hsa-miR-361-5p	CLIP-seq
MIRT1971455	hsa-miR-3691-3p	CLIP-seq
MIRT915191	hsa-miR-3691-5p	CLIP-seq
MIRT2207159	hsa-miR-3914	CLIP-seq
MIRT2207160	hsa-miR-3916	CLIP-seq
MIRT2207161	hsa-miR-3928	CLIP-seq
MIRT2207162	hsa-miR-429	CLIP-seq
MIRT2207163	hsa-miR-4465	CLIP-seq
MIRT915195	hsa-miR-4652-3p	CLIP-seq
MIRT1971457	hsa-miR-4661-3p	CLIP-seq
MIRT2207164	hsa-miR-4718	CLIP-seq
MIRT915199	hsa-miR-4719	CLIP-seq
MIRT2207165	hsa-miR-4729	CLIP-seq
MIRT915203	hsa-miR-4752	CLIP-seq
MIRT2207166	hsa-miR-4797-5p	CLIP-seq
MIRT2207167	hsa-miR-494	CLIP-seq
MIRT2207168	hsa-miR-579	CLIP-seq
MIRT915215	hsa-miR-586	CLIP-seq
MIRT1971458	hsa-miR-651	CLIP-seq
MIRT2207169	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19706605, 19706687, 22022388, 24550280, 25009281, 30126976
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	9342840
GO:0005886	Component	Plasma membrane	IBA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9223106
GO:0007165	Process	Signal transduction	TAS	9223106
GO:0008013	Function	Beta-catenin binding	IPI	25807484
GO:0014069	Component	Postsynaptic density	IBA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IDA	22022388
GO:0043204	Component	Perikaryon	IEA
GO:0045296	Function	Cadherin binding	IBA
GO:0050808	Process	Synapse organization	IMP	25807484
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	25807484
GO:0060997	Process	Dendritic spine morphogenesis	IBA
GO:0060997	Process	Dendritic spine morphogenesis	IMP	25807484
GO:0070161	Component	Anchoring junction	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

Other IDs

• MIM: 604275
• HGNC: 2516
• e!Ensembl: ENSG00000169862

Protein

• UniProt ID: Q9UQB3
• Protein name: Catenin delta-2 (Delta-catenin) (GT24) (Neural plakophilin-related ARM-repeat protein) (NPRAP) (Neurojungin)
• Protein function: Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin tur
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	581 → 621	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	625 → 666	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	834 → 875	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	882 → 921	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain; highest expression is observed in fetal brain (PubMed:25807484). {ECO:0000269|PubMed:25807484}.
• Sequence:

  MFARKPPGAAPLGAMPVPDQPSSASEKTSSLSPGLNTSNGDGSETETTSAILASVKEQEL
  QFERLTRELEAERQIVASQLERCKLGSETGSMSSMSSAEEQFQWQSQDGQKDIEDELTTG
  LELVDSCIRSLQESGILDPQDYSTGERPSLLSQSALQLNSKPEGSFQYPASYHSNQTLAL
  GETTPSQLPARGTQARATGQSFSQGTTSRAGHLAGPEPAPPPPPPPREPFAPSLGSAFHL
  PDAPPAAAAAALYYSSSTLPAPPRGGSPLAAPQGGSPTKLQRGGSAPEGATYAAPRGSSP
  KQSPSRLAKSYSTSSPINIVVSSAGLSPIRVTSPPTVQSTISSSPIHQLSSTIGTYATLS
  PTKRLVHASEQYSKHSQELYATATLQRPGSLAAGSRASYSSQHGHLGPELRALQSPEHHI
  DPIYEDRVYQKPPMRSLSQSQGDPLPPAHTGTYRTSTAPSSPGVDSVPLQRTGSQHGPQN
  AAAATFQRASYAAGPASNYADPYRQLQYCPSVESPYSKSGPALPPEGTLARSPSIDSIQK
  DPREFGWRDPELPEVIQMLQHQFPSVQSNAAAYLQHLCFGDNKIKAEIRRQGGIQLLVDL
  LDHRMTEVHRSACGALRNLVYGKANDDNKIALKNCGGIPALVRLLRKTTDLEIRELVTGV
  LWNLSSCDALKMPIIQDALAVLTNAVIIPHSGWENSPLQDDRKIQLHSSQVLRNATGCLR
  NVSSAGEEARRRMRECDGLTDALLYVIQSALGSSEIDSKTVENCVCILRNLSYRLAAETS
  QGQHMGTDELDGLLCGEANGKDAESSGCWGKKKKKKKSQDQWDGVGPLPDCAEPPKGIQM
  LWHPSIVKPYLTLLSECSNPDTLEGAAGALQNLAAGSWKWSVYIRAAVRKEKGLPILVEL
  LRIDNDRVVCAVATALRNMALDVRNKELIGKYAMRDLVHRLPGGNNSNNTASKAMSDDTV
  TAVCCTLHEVITKNMENAKALRDAGGIEKLVGISKSKGDKHSPKVVKAASQVLNSMWQYR
  DLRSLYKKDGWSQYHFVASSSTIERDRQRPYSSSRTPSISPVRVSPNNRSASAPASPREM
  ISLKERKTDYECTGSNATYHGAKGEHTSRKDAMTAQNTGISTLYRNSYGAPAEDIKHNQV
  SAQPVPQEPSRKDYETYQPFQNSTRNYDESFFEDQVHHRPPASEYTMHLGLKSTGNYVDF
  YSAARPYSELNYETSHYPASPDSWV

• Sequence length: 1225

Pathways

KEGG:

Wnt signaling pathway

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
CTNND2-related disorder	Likely pathogenic	rs2546872978	RCV003402431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRI-DU-CHAT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTNND2-associated Neurodevelopmental syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ADULT MYOCLONIC EPILEPSY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21106062		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22213037, 29251319		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	12115574		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22022388, 22984439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	24256404, 30981806		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34236339	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24256404, 30981806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety disorder	Pubtator	24256404	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	31520422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	25106414	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25106414		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25807484, 26601658, 27793771, 30981806		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	35164838	Associate	★☆☆☆☆ Found in Text Mining only
Benign adult familial myoclonic epilepsy	Benign Myoclonic Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	12115574		★☆☆☆☆ Found in Text Mining only
Breast cancer, lobular	Breast Cancer	BEFREE	25273174		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25273174		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18302937		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24966965	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21070476, 22213037, 29251319		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22699932		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22984439	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	23695280	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23423910, 26062780		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	22984439		★☆☆☆☆ Found in Text Mining only
Cri-du-Chat Syndrome	5p partial monosomy syndrome	BEFREE	10673328, 16953888, 24677774, 25724647, 30981806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cri-du-Chat Syndrome	5p partial monosomy syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	32681239	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	24256404	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	40667715	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	28839234	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	26744416		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	31520422		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29127138		★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1	Myoclonic Epilepsy	ORPHANET_DG	29127138		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	21734802, 30880778	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23917401		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	23917401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	23917401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23917401		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23917401	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30872378		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25473103		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31208038	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10673328, 16953888, 25724647, 25839933, 30981806, 31814264		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22022388	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	25106414	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	25724647		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30221043, 30458179, 31421822		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25273174		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20048286, 21070476, 22213037		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22699932		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12115574, 18978817, 21106062, 24727894, 29629558, 29849951, 30833716		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18302937, 18978817, 22213037, 25273174, 29251319		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	25817443		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24256404		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10673328, 16953888, 30981806		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	25473103		★☆☆☆☆ Found in Text Mining only
Monosomy 5p	Monosomy 5p	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Monosomy 5p	Monosomy 5p	Orphanet			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12835311, 15733271, 25106414, 25473103, 25807484, 25839933, 26601658, 29127138		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21095009, 36945837	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	21911587, 24672220		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	22759899		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17259561, 20048286, 22213037, 23220088, 24727894, 25817443, 26062780		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21070476, 22213037		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22699932		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	34236339	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25106414		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12115574, 18978817, 21106062, 24727894, 29629558, 29849951, 30833716		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16226102, 18978817		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18978817	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24256404	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	10673328		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21095009, 21911587, 27034204		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16328025, 17487424		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	24256404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations