NEUROD1 (neuronal differentiation 1)

Gene

• Entrez ID: 4760
• Gene name: Neuronal differentiation 1
• Gene symbol: NEUROD1
• Synonyms (NCBI Gene): BETA2, BHF-1, MODY6, NEUROD, T2D, bHLHa3
• Chromosome: 2
• Chromosome location: 2q31.3
• Summary: This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. I

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893649	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs149703259	G>C,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant
rs387906384	GGG>-,GGGG	Pathogenic	Intron variant, coding sequence variant, inframe deletion, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007297	hsa-miR-30a-5p	Western blot	23338554
MIRT725343	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT725342	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT725341	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT725340	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT725339	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT725338	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT725337	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT725335	hsa-miR-6131	HITS-CLIP	19536157
MIRT725336	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT725334	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT725333	hsa-miR-6071	HITS-CLIP	19536157
MIRT725332	hsa-miR-4263	HITS-CLIP	19536157
MIRT725331	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT725330	hsa-miR-544a	HITS-CLIP	19536157
MIRT725329	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT725327	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT734569	hsa-miR-30a-3p	Immunoprecipitaion (IP)	33344724
MIRT725343	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT725342	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT725341	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT725340	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT725339	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT725338	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT725337	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT725335	hsa-miR-6131	HITS-CLIP	19536157
MIRT725336	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT725334	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT725333	hsa-miR-6071	HITS-CLIP	19536157
MIRT725332	hsa-miR-4263	HITS-CLIP	19536157
MIRT725331	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT725330	hsa-miR-544a	HITS-CLIP	19536157
MIRT725329	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT725327	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT756403	hsa-miR-25-3p	Luciferase reporter assay, Western blotting	35194770
MIRT1181229	hsa-miR-1208	CLIP-seq
MIRT1181230	hsa-miR-128	CLIP-seq
MIRT1181231	hsa-miR-130a	CLIP-seq
MIRT1181232	hsa-miR-130b	CLIP-seq
MIRT1181233	hsa-miR-132	CLIP-seq
MIRT1181234	hsa-miR-148a	CLIP-seq
MIRT1181235	hsa-miR-148b	CLIP-seq
MIRT1181236	hsa-miR-152	CLIP-seq
MIRT1181237	hsa-miR-153	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181239	hsa-miR-18a	CLIP-seq
MIRT1181240	hsa-miR-18b	CLIP-seq
MIRT1181241	hsa-miR-194	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT1181244	hsa-miR-212	CLIP-seq
MIRT1181245	hsa-miR-24	CLIP-seq
MIRT1181246	hsa-miR-297	CLIP-seq
MIRT1181247	hsa-miR-301a	CLIP-seq
MIRT1181248	hsa-miR-301b	CLIP-seq
MIRT1181249	hsa-miR-3149	CLIP-seq
MIRT1181250	hsa-miR-3666	CLIP-seq
MIRT1181251	hsa-miR-369-3p	CLIP-seq
MIRT1181252	hsa-miR-374c	CLIP-seq
MIRT1181253	hsa-miR-3923	CLIP-seq
MIRT1181254	hsa-miR-4295	CLIP-seq
MIRT1181255	hsa-miR-4330	CLIP-seq
MIRT1181256	hsa-miR-448	CLIP-seq
MIRT1181257	hsa-miR-454	CLIP-seq
MIRT1181258	hsa-miR-4666-5p	CLIP-seq
MIRT1181259	hsa-miR-4704-3p	CLIP-seq
MIRT1181260	hsa-miR-4735-3p	CLIP-seq
MIRT1181261	hsa-miR-548a-5p	CLIP-seq
MIRT1181262	hsa-miR-548ab	CLIP-seq
MIRT1181263	hsa-miR-548ak	CLIP-seq
MIRT1181264	hsa-miR-548b-5p	CLIP-seq
MIRT1181265	hsa-miR-548c-3p	CLIP-seq
MIRT1181266	hsa-miR-548c-5p	CLIP-seq
MIRT1181267	hsa-miR-548d-5p	CLIP-seq
MIRT1181268	hsa-miR-548h	CLIP-seq
MIRT1181269	hsa-miR-548i	CLIP-seq
MIRT1181270	hsa-miR-548j	CLIP-seq
MIRT1181271	hsa-miR-548n	CLIP-seq
MIRT1181272	hsa-miR-548w	CLIP-seq
MIRT1181273	hsa-miR-548y	CLIP-seq
MIRT1181274	hsa-miR-556-3p	CLIP-seq
MIRT1181275	hsa-miR-559	CLIP-seq
MIRT1181276	hsa-miR-567	CLIP-seq
MIRT1181277	hsa-miR-655	CLIP-seq
MIRT1181278	hsa-miR-802	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT2052492	hsa-miR-3714	CLIP-seq
MIRT2052493	hsa-miR-4635	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT2579931	hsa-miR-134	CLIP-seq
MIRT2579932	hsa-miR-2113	CLIP-seq
MIRT2579933	hsa-miR-3118	CLIP-seq
MIRT2579934	hsa-miR-3163	CLIP-seq
MIRT2579935	hsa-miR-3164	CLIP-seq
MIRT2579936	hsa-miR-3924	CLIP-seq
MIRT2579937	hsa-miR-4668-3p	CLIP-seq
MIRT2579938	hsa-miR-568	CLIP-seq
MIRT2579939	hsa-miR-758	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT2686211	hsa-miR-300	CLIP-seq
MIRT2686212	hsa-miR-381	CLIP-seq
MIRT2579936	hsa-miR-3924	CLIP-seq
MIRT2686213	hsa-miR-4517	CLIP-seq
MIRT2686214	hsa-miR-4666-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NEUROG3	Unknown	16855267

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-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	IDA	14752053, 19619559
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003326	Process	Pancreatic A cell fate commitment	IEA
GO:0003329	Process	Pancreatic PP cell fate commitment	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10545951, 17941991
GO:0005515	Function	Protein binding	IPI	14752053, 28514442, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	10545951
GO:0005634	Component	Nucleus	IDA	14752053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0009749	Process	Response to glucose	IMP	10545951
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021542	Process	Dentate gyrus development	ISS
GO:0021549	Process	Cerebellum development	IEA
GO:0021549	Process	Cerebellum development	ISS
GO:0022008	Process	Neurogenesis	TAS	8786144
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030073	Process	Insulin secretion	IDA	17941991
GO:0030154	Process	Cell differentiation	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0031018	Process	Endocrine pancreas development	ISS	9308961
GO:0032024	Process	Positive regulation of insulin secretion	IDA	19619559
GO:0035881	Process	Amacrine cell differentiation	IEA
GO:0035881	Process	Amacrine cell differentiation	ISS
GO:0035883	Process	Enteroendocrine cell differentiation	IEA
GO:0035883	Process	Enteroendocrine cell differentiation	ISS
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS	9308961
GO:0043010	Process	Camera-type eye development	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	10545951
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10545951, 17941991, 19619559
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	14752053
GO:0046982	Function	Protein heterodimerization activity	IPI	10545951
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048562	Process	Embryonic organ morphogenesis	ISS	9308961
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050796	Process	Regulation of insulin secretion	IC	10545951
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	14752053
GO:0060730	Process	Regulation of intestinal epithelial structure maintenance	IEA
GO:0060730	Process	Regulation of intestinal epithelial structure maintenance	ISS
GO:0061564	Process	Axon development	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	10545951, 16321656, 19619559
GO:0070888	Function	E-box binding	IBA
GO:0070888	Function	E-box binding	IDA	14752053
GO:0070888	Function	E-box binding	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEP	19619559
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	10545951
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	IEA
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	ISS	9308961

Other IDs

• MIM: 601724
• HGNC: 7762
• e!Ensembl: ENSG00000162992

Protein

• UniProt ID: Q13562
• Protein name: Neurogenic differentiation factor 1 (NeuroD) (NeuroD1) (Class A basic helix-loop-helix protein 3) (bHLHa3)
• Protein function: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	102 → 154	Helix-loop-helix DNA-binding domain	Domain
  PF12533	Neuro_bHLH	160 → 284	Neuronal helix-loop-helix transcription factor	Family

• Sequence:

  MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEE
  DEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAA
  LDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKSPDLVSFVQTLCKGLSQPT
  TNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVF
  HVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFT
  MHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD

• Sequence length: 356

Pathways

KEGG:

Maturity onset diabetes of the young

Reactome:

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

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
Maturity-onset diabetes of the young type 6	Pathogenic	rs149703259	RCV000202380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEUROD1-related disorder	Likely pathogenic	rs2468610661	RCV003911656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs2105594483	RCV003889379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus	Pathogenic	rs104893649	RCV000008303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoinsulinemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young	Uncertain significance; Benign	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY, TYPE 6	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23364532		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	14759067, 18228160, 30719226		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31715070, 9270024		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31401713		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	21389145		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10780896, 10873550, 21294785		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25684977	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	40474235	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	17436254		★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	21275797	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1347417, 18463976, 18519782, 19353266, 26295469, 27930738		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18519782	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31715070, 34937609, 37987107	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	18587321	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18752043, 23553831		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24719457	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	16862075	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	30414538	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34654408	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	16862075, 32721553, 33248321, 34145257, 34534680, 37931445, 40275187	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	17102592		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	18587321		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34654408	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	20573748, 25684977	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22018873		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22018873		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	28892561		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31715070, 9270024		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23328482		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28951451		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25371200, 26989024		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30621030, 31715070		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25371200, 31715070, 35587572	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	34497584	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28677747		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29498756		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10230653, 10334323, 10905500, 11078465, 11246894, 11344245, 11756345, 15592940, 17440689, 18331410, 26773576, 27070593, 28664602, 29521454, 30359270, 31519700		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10230653, 10334323, 10905500, 11078465, 11246894, 11344245, 11756345, 15592940, 17440689, 18331410, 26773576, 27070593, 28664602, 29521454, 30359270, 31519700		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20573748, 33484326, 34654408, 35769090, 36208030, 40474235	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31578821	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	20573748	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	25477324, 25684977	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32882526	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16936201, 20573748, 22296034, 25684977, 26287533, 28095440, 30259503, 31578821, 31595705, 32882526, 35592779, 36208030, 37234924, 40026692, 40474235	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10334323, 10633878, 10808064, 10905500, 12639765, 12951629, 15047635, 15592940, 16357810, 16909454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12639765, 12951629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10230653, 10334323, 10545951, 10808064, 10905500, 11078465, 11272211, 11719843, 12861411, 12951629, 15277395, 16026366, 16773428, 16873704, 22296034, 23018631, 23203005, 25684977, 26551672, 28432716, 29521454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	10545951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12861411, 17327436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG	20573748, 26669242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	29521454		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	25684977	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	17436254		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29498756		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28427858		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	30297428		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25876658	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	35139773	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	27899417		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28418837	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	20573748, 25684977, 33484326	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23328482		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30864675		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	18519782	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23896721		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33065279	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17615265, 30793219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32531444	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30793219		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	19307926		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20573748	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29692408		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	15014026		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17549667, 23553831		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17549667, 24719457	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	40107154	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	35139773	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	29113800		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1347417, 18463976, 18519782, 19353266, 26295469, 27930738		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17236203		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17126478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30106147, 31614322		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17126478, 17925286, 19806464, 22576709, 23873099, 23982216, 24848707, 27930738, 30548372, 30621030, 31715070		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22018873		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25371200, 26989024		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18519782		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19353266		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10230653, 11078465, 11344245, 11719843, 15047635, 15955369, 16026366, 18331410, 21521318, 23203005, 25684977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG	20573748, 26669242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	21844708, 22498247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	UNIPROT_DG	10545951, 11719843, 26773576		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	GENOMICS_ENGLAND_DG	20573748, 26669242		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	BEFREE	30793219		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)	Mason type diabetes	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17522332, 31715070, 9270024		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28213356, 31715070	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	28427858		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30414538		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY Type 6	Maturity-onset diabetes of the young	Pubtator	34654408, 39264012, 40026692	Associate	★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG	20573748, 26669242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	BEFREE	31578821		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19307926		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	20573748, 23203005, 25477324		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1347417, 15014026, 16382005, 18676824, 19353266, 19806464, 21098398, 21349947, 21383526, 22127840, 22907430, 23328482, 23553831, 24804973, 26989024, 27452466, 28865461, 29226333, 30621030		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35269707	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	23203475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	21349947, 25652313, 31715070, 9952112		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31715070, 32641824, 34937609, 36121500	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	19097999, 27452466, 30719226		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21738778		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18331410		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	21512513		★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	21328338		★☆☆☆☆ Found in Text Mining only
Pallister-Hall syndrome	Pallister-Hall Syndrome	BEFREE	17436254		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17236203		★☆☆☆☆ Found in Text Mining only
PITT-HOPKINS SYNDROME	Pitt-Hopkins Syndrome	BEFREE	17436254, 27132474		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	14759067, 17761887		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	21383526		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	14759067		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16094422, 8078932		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30719226		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17126478		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21385481, 27840924, 34599169	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL	PERSISTENT FETAL VASCULATURE	BEFREE	28192794		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25477324, 30359287	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	28427858		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	15735646, 17003487, 28220539, 8988166, 9792856		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28072411		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26634621		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	34654408	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23530560, 27452466, 28089889, 30926931, 31782890		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	19679880, 24719457, 28212573, 33011388, 33086069, 33514539, 34653364, 35220975, 35263037, 35440124, 35489038, 35612556, 35789143, 36149789, 36378541, 36399951, 36517551, 36935366, 37253435, 37752152, 37987107, 39201435, 39210380, 39283755, 39413714, 40107154, 40649874	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15014026		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28427858		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30106147, 31614322		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40275187	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	20573748, 25684977	Associate	★☆☆☆☆ Found in Text Mining only