ASCL1 (achaete-scute family bHLH transcription factor 1)

Gene

• Entrez ID: 429
• Gene name: Achaete-scute family bHLH transcription factor 1
• Gene symbol: ASCL1
• Synonyms (NCBI Gene): ASH1, HASH1, MASH1, bHLHa46
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5`-CANNTG-3`). Dimerization with other BHLH proteins is required for efficient DNA binding. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT438551	hsa-let-7i-5p	ChIP-seq, GFP reporter assay, Immunocytochemistry, Immunohistochemistry, Luciferase reporter assay, qRT-PCR	23884650
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649375	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649374	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649373	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649372	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649371	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649370	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649369	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649368	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT649375	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649374	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649373	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649372	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT649371	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT649370	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649369	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649368	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT615972	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT615971	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT615970	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT615969	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT615968	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT615967	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT615966	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT615965	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT615964	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT802678	hsa-miR-150	CLIP-seq
MIRT802679	hsa-miR-210	CLIP-seq
MIRT802680	hsa-miR-3152-3p	CLIP-seq
MIRT802681	hsa-miR-4252	CLIP-seq
MIRT802682	hsa-miR-877	CLIP-seq
MIRT802678	hsa-miR-150	CLIP-seq
MIRT1937020	hsa-miR-3136-5p	CLIP-seq
MIRT1937021	hsa-miR-3170	CLIP-seq
MIRT1937022	hsa-miR-4439	CLIP-seq
MIRT1937023	hsa-miR-452	CLIP-seq
MIRT1937024	hsa-miR-4676-3p	CLIP-seq
MIRT1937025	hsa-miR-563	CLIP-seq
MIRT1937026	hsa-miR-942	CLIP-seq
MIRT1937027	hsa-miR-943	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HES1	Repression	11054669;21573214;9144241
HES6	Repression	16103883
HNRNPR	Unknown	25124043
LMO3	Activation	21573214
LMO3	Repression	21573214
NHLH2	Activation	21573214
NHLH2	Repression	21573214

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11736660
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11736660
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11736660
GO:0003358	Process	Noradrenergic neuron development	IEA
GO:0003358	Process	Noradrenergic neuron development	ISS
GO:0003359	Process	Noradrenergic neuron fate commitment	IMP	14532329
GO:0003676	Function	Nucleic acid binding	EXP	28402879
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10903890
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	10903890, 32296183, 33961781, 36931659
GO:0005634	Component	Nucleus	IDA	12858003, 17507989, 18311112
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007219	Process	Notch signaling pathway	IDA	16160079
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007400	Process	Neuroblast fate determination	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	ISS
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0021527	Process	Spinal cord association neuron differentiation	IEA
GO:0021529	Process	Spinal cord oligodendrocyte cell differentiation	IEA
GO:0021530	Process	Spinal cord oligodendrocyte cell fate specification	IEA
GO:0021750	Process	Vestibular nucleus development	IEA
GO:0021779	Process	Oligodendrocyte cell fate commitment	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEP	12050665
GO:0021902	Process	Commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IDA	19008346
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032526	Process	Response to retinoic acid	IEP	12000752
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17507989
GO:0043425	Function	BHLH transcription factor binding	IPI	10903890, 11940670
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IDA	12000752
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11736660
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10903890
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048485	Process	Sympathetic nervous system development	NAS	10903890
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048666	Process	Neuron development	IEA
GO:0048666	Process	Neuron development	ISS
GO:0048699	Process	Generation of neurons	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050883	Process	Musculoskeletal movement, spinal reflex action	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0060163	Process	Subpallium neuron fate commitment	IEA
GO:0060165	Process	Regulation of timing of subpallium neuron differentiation	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060487	Process	Lung epithelial cell differentiation	NAS	12858003
GO:0060579	Process	Ventral spinal cord interneuron fate commitment	IEA
GO:0060579	Process	Ventral spinal cord interneuron fate commitment	ISS
GO:0061100	Process	Lung neuroendocrine cell differentiation	IEA
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061102	Process	Stomach neuroendocrine cell differentiation	IEA
GO:0061103	Process	Carotid body glomus cell differentiation	IEA
GO:0061104	Process	Adrenal chromaffin cell differentiation	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061549	Process	Sympathetic ganglion development	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0070849	Process	Response to epidermal growth factor	IEA
GO:0070888	Function	E-box binding	IDA	10903890, 11736660
GO:0070888	Function	E-box binding	IEA
GO:0071259	Process	Cellular response to magnetism	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:0097475	Process	Motor neuron migration	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA

Other IDs

• MIM: 100790
• HGNC: 738
• e!Ensembl: ENSG00000139352

Protein

• UniProt ID: P50553
• Protein name: Achaete-scute homolog 1 (ASH-1) (hASH1) (Class A basic helix-loop-helix protein 46) (bHLHa46)
• Protein function: Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3')
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	119 → 171	Helix-loop-helix DNA-binding domain	Domain

• Sequence:

  MESSAKMESGGAGQQPQPQPQQPFLPPAACFFATAAAAAAAAAAAAAQSAQQQQQQQQQQ
  QQAPQLRPAADGQPSGGGHKSAPKQVKRQRSSSPELMRCKRRLNFSGFGYSLPQQQPAAV
  ARRNERERNRVKLVNLGFATLREHVPNGAANKKMSKVETLRSAVEYIRALQQLLDEHDAV
  SAAFQAGVLSPTISPNYSNDLNSMAGSPVSSYSSDEGSYDPLSPEEQELLDFTNWF

• Sequence length: 236

Pathways

Reactome:

NGF-stimulated transcription

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASCL1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Haddad syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ 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
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	15701827, 26482608, 27628324, 27785690, 30429033, 31231131		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21737174, 22696682, 24037524, 28460442, 30121393		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16943582		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	9186001		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	16103883		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	30060049, 38160718	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31836808		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	16103883, 17146289		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	37958729	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	31212628		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22422124, 27628324		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35690220	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22696682, 23114535, 33191657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	19765735, 22696682, 26403073, 39581377	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	26008974	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11948117, 21684625, 22422124		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36755802	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	16862075, 30121393, 35608806, 38086335, 38126617	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18587322, 30414538	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11948117, 15466176, 16322211, 17507989, 20124469, 21684625, 21856745, 22696682, 23300791, 23706418, 24037524, 25267614, 29413762, 29501727, 9144241		★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	14657947, 16862075, 18587322, 26340530, 27764802, 33248321, 34145257, 34534680, 37931445	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24078426	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	15701827, 17102592, 18587321, 23375646, 27628324, 29413762, 30946934		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	15701827, 18587321		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	20736965, 28832532		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Occlusion	Cerebrovascular Occlusion	BEFREE	20736965		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30101434		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23423517	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	14532329		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	11434725		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	24262292	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17711980		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25380300		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	20452788	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	18587321, 23375646		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28130400	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18796682, 23707066, 28712938, 30538287, 35149717	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23707066, 28712938, 28832532, 30538287		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32182224	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16103883, 18796682, 23707066, 28712938, 28832532, 30538287		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28742165		★☆☆☆☆ Found in Text Mining only
Haddad syndrome	Haddad Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	25380300		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	17436255, 22648184		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Islet Cell Tumor	Islet Cell Tumor	BEFREE	19744316		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29858089		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	14657947, 17549667, 20124469, 22696682, 25267614	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17507989		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	17549667, 21684625		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24078426, 33191657	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15701827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	27628324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22422124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11948117, 15466176, 16103883, 16322211, 17507989, 17549667, 18339843, 20124469, 20659153, 21684625, 21856745, 22696682, 23706418, 24037524, 25267614, 27628324, 29413762, 29501727, 8390674, 9126746, 9144241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31836808		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15492808, 16103883, 28742165, 28832532, 30121393, 30538287		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	17090547, 8390674, 8751579, 9186001		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20515335		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19150107	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	12209986, 30414538		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	LHGDN	18587322		★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	14720503		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	25143124		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	15701827		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10945598, 11306509, 14759067, 15272537, 15492808, 19150107, 19176379, 22172490, 23375646, 24037524, 25267614, 25882982, 25892663, 27452466, 27628324, 28621224, 28742165, 30043754, 30121393, 9186001		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	23203475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	10080936		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	31523200		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10080936, 10903890, 11054669, 11736660, 12107114, 15390277, 15492808, 17124508, 19150107, 20842449, 21573214, 23889332, 25124043, 25480889, 31819055		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12107114, 19150107, 21573214, 24521712, 31819055, 33046535, 36121500, 38060444, 38331110	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	9270024		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	9270024		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	18587321, 19097999, 23375646, 25892663, 27628324, 28130400, 28621224, 29413762, 30121393		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	22996044		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11948117, 16619573, 25267614		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10704189		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24262292, 25059804		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	17146289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	18796682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19744316	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16021468, 20097173		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	19669229	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	9186001		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	14759067		★☆☆☆☆ Found in Text Mining only
Pituitary carcinoma	Pituitary carcinoma	BEFREE	16943582		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	30538287		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31836808		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18311112		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18311112, 31836808, 34599169, 35477723, 37552603, 37823778, 37995683	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28285791		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	19150107	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16899352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	34911938, 37958729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10080936, 10945598, 11306509, 11948117, 16619573, 19176379, 20124469, 21684625, 22172490, 23530560, 23706418, 25267614, 26253517, 26482608, 27452466, 27785690, 28534531, 28742165, 29413762, 29501727, 29787820, 29866045, 29876935, 30043754, 30429033, 30723171, 30926931, 30968324, 31068386, 31231131, 31324758, 31671086, 31691490, 31782890, 9144241, 9186001		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	26253517		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12107114, 18587322, 20124469, 25267614, 26340530, 28212573, 30121393, 31068386, 31292388, 31782890, 32669118, 33011388, 33086069, 33191657, 33514539, 34417454, 34653364, 34931456, 35194152, 35220975, 35263037, 35440124, 35489038, 35612556, 35789143, 35815661, 36149789, 36378541, 36399951, 36517551, 37054974, 37253435, 37752152, 38126617, 38233864, 38241363, 39210380, 40649874	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29866045, 31691490	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37801008	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	15701827, 27628324		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25612142	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	17090547, 8751579	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	14668716		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1B	Usher Syndrome	BEFREE	10704189		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34558659, 36366827, 38160718	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30101434, 36366827	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	17146289		★☆☆☆☆ Found in Text Mining only