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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1959
Gene name	Early growth response 2
Gene symbol	EGR2
Synonyms (NCBI Gene)	AT591CMT1DCMT4EKROX20
Chromosome	10
Chromosome location	10q21.3
Summary	The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sotta

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894158	A>T	Pathogenic	Missense variant, coding sequence variant
rs104894159	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894160	C>A,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894161	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121434563	C>T	Pathogenic	Missense variant, coding sequence variant
rs139147487	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs143793213	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs146631014	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs281865136	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs281865137	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs281865138	A>C	Pathogenic	Coding sequence variant, missense variant
rs281865139	G>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs530614586	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565355765	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs751448371	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs864622273	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs879254278	T>C	Pathogenic	Coding sequence variant, missense variant
rs1589080524	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003417	hsa-miR-100-5p	MicroarrayqRT-PCR	19396866
MIRT003222	hsa-miR-150-5p	Luciferase reporter assaysemi-qRT-PCRWestern blot	20067763
MIRT020183	hsa-miR-130b-3p	Sequencing	20371350
MIRT022653	hsa-miR-124-3p	Microarray	18668037
MIRT028079	hsa-miR-93-5p	Sequencing	20371350
MIRT053247	hsa-miR-142-3p	FlowMicroarrayqRT-PCRWestern blot	23602969
MIRT053563	hsa-miR-20a-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23924943
MIRT003222	hsa-miR-150-5p	Luciferase reporter assayMicroarrayqRT-PCR	23604034
MIRT756073	hsa-miR-141-3p	Luciferase reporter assay	36811100
MIRT756074	hsa-miR-200a-3p	Luciferase reporter assay	36811100
MIRT955023	hsa-miR-34a	CLIP-seq
MIRT955024	hsa-miR-34c-5p	CLIP-seq
MIRT955025	hsa-miR-3978	CLIP-seq
MIRT955026	hsa-miR-449a	CLIP-seq
MIRT955027	hsa-miR-449b	CLIP-seq
MIRT955028	hsa-miR-486-3p	CLIP-seq
MIRT955029	hsa-miR-621	CLIP-seq
MIRT2217828	hsa-miR-124	CLIP-seq
MIRT2217829	hsa-miR-3618	CLIP-seq
MIRT2217830	hsa-miR-377	CLIP-seq
MIRT2217831	hsa-miR-4457	CLIP-seq
MIRT2217832	hsa-miR-4731-3p	CLIP-seq
MIRT2217833	hsa-miR-4801	CLIP-seq
MIRT2217834	hsa-miR-499-3p	CLIP-seq
MIRT2217835	hsa-miR-499a-3p	CLIP-seq
MIRT2217836	hsa-miR-506	CLIP-seq
MIRT2217837	hsa-miR-934	CLIP-seq
MIRT2521704	hsa-miR-1296	CLIP-seq
MIRT2521705	hsa-miR-197	CLIP-seq
MIRT2521706	hsa-miR-2909	CLIP-seq
MIRT2521707	hsa-miR-4512	CLIP-seq
MIRT2521704	hsa-miR-1296	CLIP-seq
MIRT2521705	hsa-miR-197	CLIP-seq
MIRT2679854	hsa-miR-28-3p	CLIP-seq
MIRT2521706	hsa-miR-2909	CLIP-seq
MIRT2679855	hsa-miR-3194-3p	CLIP-seq
MIRT2679856	hsa-miR-3920	CLIP-seq
MIRT2521707	hsa-miR-4512	CLIP-seq
MIRT2679857	hsa-miR-549	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
EWSR1	Unknown	22327514
GLI1	Repression	18924150
SCD5	Unknown	22510410

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12687019
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	IDA	17717711
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
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	12687019
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	14532282
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	14532282
GO:0005634	Component	Nucleus	IC	14532282
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006611	Process	Protein export from nucleus	IEA
GO:0006611	Process	Protein export from nucleus	ISS
GO:0007420	Process	Brain development	TAS	9537424
GO:0007422	Process	Peripheral nervous system development	TAS	9537424
GO:0007622	Process	Rhythmic behavior	IEA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0014037	Process	Schwann cell differentiation	ISS
GO:0014040	Process	Positive regulation of Schwann cell differentiation	IEA
GO:0014040	Process	Positive regulation of Schwann cell differentiation	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0021569	Process	Rhombomere 3 development	IEA
GO:0021612	Process	Facial nerve structural organization	IEA
GO:0021612	Process	Facial nerve structural organization	ISS
GO:0021659	Process	Rhombomere 3 structural organization	IEA
GO:0021659	Process	Rhombomere 3 structural organization	ISS
GO:0021660	Process	Rhombomere 3 formation	IEA
GO:0021665	Process	Rhombomere 5 structural organization	IEA
GO:0021665	Process	Rhombomere 5 structural organization	ISS
GO:0021666	Process	Rhombomere 5 formation	IEA
GO:0030278	Process	Regulation of ossification	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19651900
GO:0031643	Process	Positive regulation of myelination	IEA
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0035284	Process	Brain segmentation	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	ISS
GO:0042552	Process	Myelination	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	17717711
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell 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	IDA	12687019, 17717711
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0061665	Function	SUMO ligase activity	IEA
GO:0061665	Function	SUMO ligase activity	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
129010	3239	ENSG00000122877

P11161

Protein name

E3 SUMO-protein ligase EGR2 (EC 2.3.2.-) (AT591) (E3 SUMO-protein transferase ERG2) (Early growth response protein 2) (EGR-2) (Zinc finger protein Krox-20)

Protein function

Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of ge

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11928	DUF3446	94 → 184	Early growth response N-terminal domain	Domain
PF00096	zf-C2H2	340 → 364	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	370 → 392	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	398 → 420	Zinc finger, C2H2 type	Domain

Sequence

MMTAKAVDKIPVTLSGFVHQLSDNIYPVEDLAATSVTIFPNAELGGPFDQMNGVAGDGMI
NIDMTGEKRSLDLPYPSSFAPVSAPRNQTFTYMGKFSIDPQYPGASCYPEGIINIVSAGI
LQGVTSPASTTASSSVTSASPNPLATGPLGVCTMSQTQPDLDHLYSPPPPPPPYSGCAGD
LYQDPSAFLSAATTSTSSSLAYPPPPSYPSPKPATDPGLFPMIPDYPGFFPSQCQRDLHG
TAGPDRKPFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGGSEGPRLPGSSSA
AAAAAAAAAYNPHHLPLRPILRPRKYPNRPSKTPVHERPYPCPAEGCDRRFSRSDELTRH
IRIHTGHKPFQCRICMRNFSRSDHLTTHIRTHTGEKPFACDYCGRKFARSDERKRHTKIH
LRQKERKSSAPSASVPAPSTASCSGGVQPGGTLCSSNSSSLGGGPLAPCSSRTRTP

Sequence length

476

Interactions

View interactions

	KEGG		Reactome
	C-type lectin receptor signaling pathway Hepatitis B Human T-cell leukemia virus 1 infection Viral carcinogenesis		NGF-stimulated transcription EGR2 and SOX10-mediated initiation of Schwann cell myelination

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic	rs104894161, rs749558026, rs281865136, rs281865137, rs1589080524	RCV000856959 RCV000789746 RCV000789743 RCV000789745 RCV000789748	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1D	Pathogenic	rs104894159, rs104894161, rs749558026, rs281865136, rs281865137, rs1589080524	RCV000018234 RCV000018237 RCV003447138 RCV000033900 RCV000033901 RCV003447251 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, type I	Pathogenic; Likely pathogenic	rs281865137, rs864622273, rs104894159, rs104894161, rs121434563, rs749558026, rs281865136, rs751448371, rs1589080524, rs1842187600	RCV001389257 RCV000206846 RCV001049422 RCV000231023 RCV001233037 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dejerine-Sottas disease	Pathogenic	rs2132702182, rs2132702519, rs104894161, rs121434563	RCV002051605 RCV002249928 RCV000032120 RCV003447084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dejerine-sottas neuropathy, autosomal dominant	Pathogenic	rs104894161, rs121434563	RCV000018236 RCV000018238	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs751448371	RCV004669089	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 3	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4E	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, GenCC, Orphanet ClinVar, GenCC, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EGR2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERG2-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EWING SARCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY SENSORY AND MOTOR NEUROPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETT SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOMA, EWING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tip-toe gait	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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 (150)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37549144	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	25344368, 26711547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20194224, 27856665, 27911796, 29728568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	28166214, 29907633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	29158447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22089088, 23747400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22089088, 23747400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	22089088	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	22370066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	31844579		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	34932815, 36788602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23924943, 31918125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28485808, 31543683, 33023539	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36046377	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34326314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31842182		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29156789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29156789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10502832, 10541586, 10762521, 11493034, 15241803, 15947997, 17717711, 18826755, 19244508, 22271166, 22546699, 22734907, 25091364, 26204789, 28704293, 9537424 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease type 4E	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease, Type 1D (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	10502832, 10762521, 11239949, 12736090, 15241803, 15947997, 9537424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 1D (disorder)	Charcot-Marie-Tooth disease	BEFREE	22522483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 1D (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	9537424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 1D (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 1D (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 4E	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	30804558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27890934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	29153954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32908909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27890934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	10369870, 10371530, 11523566, 12030330, 16136673, 19244508, 22522483, 22734907, 30843326, 31777123, 9537424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29153954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28166214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	21946934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	40262821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	10371530, 10541586, 11523566, 30843326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	10371530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	ORPHANET_DG	11523566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas syndrome	Dejerine-Sottas Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	31852952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	31511620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31511620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37713834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28842216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27667480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31511620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	17910586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	17910586	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10080384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22327514, 26214589, 27792997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	GWASDB_DG	22327514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	GWASCAT_DG	22327514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	CTD_human_DG	26214589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	21703609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15494095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38536014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	19244508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36859608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	10541586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CLINVAR_DG	10369870, 10371530, 10762521, 11239949, 11523566, 12471219, 12609493, 15947997, 16198564, 17717711, 20513111, 22765307, 25720245, 26204789, 27013732, 27159987, 9537424 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	BEFREE	10520946, 10648431, 11239949, 11523566, 12030330, 12736090		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	31852952	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary, Type VII, Motor and Sensory Neuropathy	Motor and Sensory Neuropathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	34868007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34868007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	GWASCAT_DG	27723758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29580816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30212930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21703609	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28166214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28596280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	1864967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28569789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31492897	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	23602969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31492897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	23602969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28485808, 28542387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	20035903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	20035903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18209054, 20035903, 20194224, 25351606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	20035903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28064239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	28064239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20067763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29156789, 29728568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29156789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38001098	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16170569, 17938205, 25185189, 25582080, 26708423, 28542387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	8584037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19000991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17717711, 20427655, 21193208, 22522483, 22546699, 26204789, 30843326		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	Neuropathy	UNIPROT_DG	22522483, 9537424		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	Neuropathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE	Neuropathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29375712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37291167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28130449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18490762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26238942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26708423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	10716658, 11493034, 16198564, 22734907, 30843326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	10915613, 12030330, 12609493, 16136673, 17717711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	10915613, 31852952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	10915613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27528026, 37857190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome	Rett Syndrome	LHGDN	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett Syndrome	Rett Syndrome	CTD_human_DG	19000991		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20194224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20687139, 22089088, 22691714, 26119399		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20687139, 22089088, 22691714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	21514423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	40262821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	16198564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	LHGDN	16198564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GWASCAT_DG	27723758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35927660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20067763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23924943, 28078605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21514423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37328520	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32432752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38305604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	21703609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34436011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	31669406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	25108386, 26628628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	32437414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	36797040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EGR2 (early growth response 2)