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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4761
Gene name	Neuronal differentiation 2
Gene symbol	NEUROD2
Synonyms (NCBI Gene)	DEE72EIEE72NDRFbHLHa1
Chromosome	17
Chromosome location	17q12
Summary	This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1323339153	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1567841596	A>G	Pathogenic	Coding sequence variant, missense variant

195

Show/Hide all (195)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018380	hsa-miR-335-5p	Microarray	18185580
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740019	hsa-miR-297	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740020	hsa-miR-3149	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740021	hsa-miR-4307	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740018	hsa-miR-567	HITS-CLIP	27418678
MIRT740022	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT740019	hsa-miR-297	HITS-CLIP	28735896
MIRT740020	hsa-miR-3149	HITS-CLIP	28735896
MIRT740021	hsa-miR-4307	HITS-CLIP	28735896
MIRT740018	hsa-miR-567	HITS-CLIP	28735896
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT711087	hsa-miR-1247-3p	HITS-CLIP	19536157
MIRT711086	hsa-miR-4532	HITS-CLIP	19536157
MIRT711085	hsa-miR-6784-5p	HITS-CLIP	19536157
MIRT711084	hsa-miR-5090	HITS-CLIP	19536157
MIRT711083	hsa-miR-6775-5p	HITS-CLIP	19536157
MIRT711082	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT711081	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT492938	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT492937	hsa-miR-663a	HITS-CLIP	19536157
MIRT492936	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT711080	hsa-miR-6781-5p	HITS-CLIP	19536157
MIRT711079	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT711078	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT492962	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492961	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492960	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT492959	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT492958	hsa-miR-4467	PAR-CLIP	23592263
MIRT492957	hsa-miR-3180	PAR-CLIP	23592263
MIRT492956	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT492954	hsa-miR-3196	PAR-CLIP	23592263
MIRT492955	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT492953	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT492952	hsa-miR-4488	PAR-CLIP	23592263
MIRT492951	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT492950	hsa-miR-183-5p	PAR-CLIP	23592263
MIRT492949	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT492948	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT492947	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT492946	hsa-miR-449a	PAR-CLIP	23592263
MIRT492945	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT492944	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT492943	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT492942	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT492940	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT492941	hsa-miR-5693	PAR-CLIP	23592263
MIRT492939	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT492938	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT492937	hsa-miR-663a	PAR-CLIP	23592263
MIRT492936	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT492935	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT492934	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT492933	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT492932	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT492931	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT492929	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT492930	hsa-miR-5698	PAR-CLIP	23592263
MIRT492928	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT492927	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1181279	hsa-miR-185	CLIP-seq
MIRT1181280	hsa-miR-1908	CLIP-seq
MIRT1181281	hsa-miR-3191	CLIP-seq
MIRT1181282	hsa-miR-34a	CLIP-seq
MIRT1181283	hsa-miR-3648	CLIP-seq
MIRT1181284	hsa-miR-4254	CLIP-seq
MIRT1181285	hsa-miR-4292	CLIP-seq
MIRT1181286	hsa-miR-4306	CLIP-seq
MIRT1181287	hsa-miR-4308	CLIP-seq
MIRT1181288	hsa-miR-4434	CLIP-seq
MIRT1181289	hsa-miR-449b	CLIP-seq
MIRT1181290	hsa-miR-4516	CLIP-seq
MIRT1181291	hsa-miR-4531	CLIP-seq
MIRT1181292	hsa-miR-4644	CLIP-seq
MIRT1181293	hsa-miR-4706	CLIP-seq
MIRT1181294	hsa-miR-4712-3p	CLIP-seq
MIRT1181295	hsa-miR-4749-5p	CLIP-seq
MIRT1181296	hsa-miR-663	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq
MIRT2052494	hsa-miR-1470	CLIP-seq
MIRT2052495	hsa-miR-4469	CLIP-seq
MIRT2052496	hsa-miR-4667-3p	CLIP-seq
MIRT2281859	hsa-miR-583	CLIP-seq
MIRT1181297	hsa-miR-765	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8816493
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8816493
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	8816493
GO:0007423	Process	Sensory organ development	IBA
GO:0008306	Process	Associative learning	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	ISS
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021695	Process	Cerebellar cortex development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048666	Process	Neuron development	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0071257	Process	Cellular response to electrical stimulus	ISS
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0090129	Process	Positive regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000297	Process	Negative regulation of synapse maturation	IEA
GO:2000297	Process	Negative regulation of synapse maturation	ISS

MIM	HGNC	e!Ensembl
601725	7763	ENSG00000171532

Q15784

Protein name

Neurogenic differentiation factor 2 (NeuroD2) (Class A basic helix-loop-helix protein 1) (bHLHa1) (NeuroD-related factor) (NDRF)

Protein function

Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	122 → 174	Helix-loop-helix DNA-binding domain	Domain
PF12533	Neuro_bHLH	180 → 310	Neuronal helix-loop-helix transcription factor	Family

Sequence

MLTRLFSEPGLLSDVPKFASWGDGEDDEPRSDKGDAPPPPPPAPGPGAPGPARAAKPVPL
RGEEGTEATLAEVKEEGELGGEEEEEEEEEEGLDEAEGERPKKRGPKKRKMTKARLERSK
LRRQKANARERNRMHDLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
KRPDLVSYVQTLCKGLSQPTTNLVAGCLQLNSRNFLTEQGADGAGRFHGSGGPFAMHPYP
YPCSRLAGAQCQAAGGLGGGAAHALRTHGYCAAYETLYAAAGGGGASPDYNSSEYEGPLS
PPLCLNGNFSLKQDSSPDHEKSYHYSMHYSALPGSRPTGHGLVFGSSAVRGGVHSENLLS
YDMHLHHDRGPMYEELNAFFHN

Sequence length

382

Interactions

View 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 72	Pathogenic; Likely pathogenic	rs558808033, rs1323339153, rs1567841596	RCV003337739 RCV000766210 RCV000766211	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROD2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	BEFREE	20880594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20880594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	25906114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36494631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	30323019		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29226333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29226333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28470106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	9270024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25250690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25906114, 29226333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	9270024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	28470106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28470106		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	35830182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	30323019		★★★★★ ★☆☆☆☆ Found in Text Mining only

NEUROD2 (neuronal differentiation 2)