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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	253738
Gene name	EBF transcription factor 3
Gene symbol	EBF3
Synonyms (NCBI Gene)	COE3EBF-3HADDSO/E-2OE-2
Chromosome	10
Chromosome location	10q26.3
Summary	This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protei

Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs778076484	G>C,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs779003155	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs869312668	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs886040976	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519389	C>A,G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1057519437	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1057519518	T>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1057519519	T>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1057519520	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs1057519521	TCTC>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057519522	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057524002	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1064794961	GTACTGCTGGGGA>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1064796766	A>C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1085307482	CT>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1131692258	C>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1131692259	C>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1131692260	G>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1131692261	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1131692262	T>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1172303286	G>A,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1554902885	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554904330	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554934855	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1554935456	->ATCTCGTGG	Pathogenic	Non coding transcript variant, inframe insertion, coding sequence variant, genic upstream transcript variant
rs1554935464	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1554935484	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1554937243	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1554937249	CCG>TCA	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1564816319	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1564840008	->A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1564927062	CA>AG	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1589745620	C>-,CC	Pathogenic, not-provided	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1589767274	C>T	Pathogenic	Splice donor variant
rs1589767433	AGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1589962586	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1589974634	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments
MIRT951373	hsa-miR-1283	CLIP-seq
MIRT951374	hsa-miR-197	CLIP-seq
MIRT951375	hsa-miR-299-3p	CLIP-seq
MIRT951376	hsa-miR-30a	CLIP-seq
MIRT951377	hsa-miR-30b	CLIP-seq
MIRT951378	hsa-miR-30c	CLIP-seq
MIRT951379	hsa-miR-30d	CLIP-seq
MIRT951380	hsa-miR-30e	CLIP-seq
MIRT951381	hsa-miR-3162-5p	CLIP-seq
MIRT951382	hsa-miR-3613-3p	CLIP-seq
MIRT951383	hsa-miR-3618	CLIP-seq
MIRT951384	hsa-miR-4491	CLIP-seq
MIRT951385	hsa-miR-4657	CLIP-seq
MIRT951386	hsa-miR-590-3p	CLIP-seq
MIRT1548129	hsa-miR-3153	CLIP-seq
MIRT1548130	hsa-miR-4668-5p	CLIP-seq
MIRT1981813	hsa-miR-145	CLIP-seq
MIRT1981814	hsa-miR-3684	CLIP-seq
MIRT1981815	hsa-miR-4788	CLIP-seq
MIRT1981816	hsa-miR-505	CLIP-seq
MIRT1981817	hsa-miR-548k	CLIP-seq
MIRT1981818	hsa-miR-548n	CLIP-seq
MIRT1981819	hsa-miR-548t	CLIP-seq
MIRT2216663	hsa-miR-1271	CLIP-seq
MIRT2216664	hsa-miR-182	CLIP-seq
MIRT2216665	hsa-miR-3591-3p	CLIP-seq
MIRT2216666	hsa-miR-4470	CLIP-seq
MIRT2216667	hsa-miR-4719	CLIP-seq
MIRT2216668	hsa-miR-518a-5p	CLIP-seq
MIRT2216669	hsa-miR-527	CLIP-seq
MIRT2216670	hsa-miR-96	CLIP-seq
MIRT2387201	hsa-miR-218	CLIP-seq
MIRT2387202	hsa-miR-636	CLIP-seq
MIRT2448635	hsa-miR-2392	CLIP-seq
MIRT2448636	hsa-miR-3688-3p	CLIP-seq
MIRT2448637	hsa-miR-3978	CLIP-seq
MIRT2520599	hsa-miR-1256	CLIP-seq
MIRT2520600	hsa-miR-1343	CLIP-seq
MIRT2520601	hsa-miR-2355-3p	CLIP-seq
MIRT2448635	hsa-miR-2392	CLIP-seq
MIRT951375	hsa-miR-299-3p	CLIP-seq
MIRT2520602	hsa-miR-3144-5p	CLIP-seq
MIRT2520603	hsa-miR-3191	CLIP-seq
MIRT2520604	hsa-miR-33a	CLIP-seq
MIRT2520605	hsa-miR-33b	CLIP-seq
MIRT2520606	hsa-miR-3616-5p	CLIP-seq
MIRT2520607	hsa-miR-3647-5p	CLIP-seq
MIRT2448636	hsa-miR-3688-3p	CLIP-seq
MIRT2520608	hsa-miR-382	CLIP-seq
MIRT2520609	hsa-miR-3945	CLIP-seq
MIRT2448637	hsa-miR-3978	CLIP-seq
MIRT2520610	hsa-miR-4253	CLIP-seq
MIRT2520611	hsa-miR-4265	CLIP-seq
MIRT2520612	hsa-miR-4296	CLIP-seq
MIRT2520613	hsa-miR-4322	CLIP-seq
MIRT2520614	hsa-miR-4417	CLIP-seq
MIRT2520615	hsa-miR-4646-3p	CLIP-seq
MIRT2520616	hsa-miR-4652-3p	CLIP-seq
MIRT2520617	hsa-miR-4652-5p	CLIP-seq
MIRT2520618	hsa-miR-4667-5p	CLIP-seq
MIRT2520619	hsa-miR-4700-5p	CLIP-seq
MIRT2520620	hsa-miR-4775	CLIP-seq
MIRT2520621	hsa-miR-4778-5p	CLIP-seq
MIRT2520622	hsa-miR-4795-5p	CLIP-seq
MIRT2520623	hsa-miR-573	CLIP-seq
MIRT951386	hsa-miR-590-3p	CLIP-seq
MIRT2520624	hsa-miR-653	CLIP-seq
MIRT2520600	hsa-miR-1343	CLIP-seq
MIRT2520601	hsa-miR-2355-3p	CLIP-seq
MIRT2448635	hsa-miR-2392	CLIP-seq
MIRT2520602	hsa-miR-3144-5p	CLIP-seq
MIRT2520603	hsa-miR-3191	CLIP-seq
MIRT2520604	hsa-miR-33a	CLIP-seq
MIRT2520605	hsa-miR-33b	CLIP-seq
MIRT2448636	hsa-miR-3688-3p	CLIP-seq
MIRT2520608	hsa-miR-382	CLIP-seq
MIRT2448637	hsa-miR-3978	CLIP-seq
MIRT2520615	hsa-miR-4646-3p	CLIP-seq
MIRT2520616	hsa-miR-4652-3p	CLIP-seq
MIRT2520617	hsa-miR-4652-5p	CLIP-seq
MIRT2520618	hsa-miR-4667-5p	CLIP-seq
MIRT2520619	hsa-miR-4700-5p	CLIP-seq
MIRT2520620	hsa-miR-4775	CLIP-seq
MIRT2520621	hsa-miR-4778-5p	CLIP-seq
MIRT951386	hsa-miR-590-3p	CLIP-seq
MIRT2520624	hsa-miR-653	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	28017373
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	28017370, 28017372, 28017373
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
607407	19087	ENSG00000108001

Q9H4W6

Protein name

Transcription factor COE3 (Early B-cell factor 3) (EBF-3) (Olf-1/EBF-like 2) (O/E-2) (OE-2)

Protein function

Transcriptional activator (PubMed:28017370, PubMed:28017372, PubMed:28017373). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity). {ECO:0000250|UniProtKB:Q07802, ECO:0000269|PubMed:28017370, ECO:0000269|PubMe

PDB

3MUJ , 3N50

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16422	COE1_DBD	17 → 247	Transcription factor COE1 DNA-binding domain	Domain
PF01833	TIG	263 → 345	IPT/TIG domain	Domain
PF16423	COE1_HLH	348 → 391	Transcription factor COE1 helix-loop-helix domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:12355068}.

Sequence

MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQSGVGLARAHFEKQPPS
NLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVEKEKEPNNEKTNNGIHYKLQLLYSNGV
RTEQDLYVRLIDSMTKQAIVYEGQDKNPEMCRVLLTHEIMCSRCCDKKSCGNRNETPSDP
VIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHVLAVSDNMFVHNNSKH
GRRARRLDPSEGTAPSYLENATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVVFGTML
VWSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFVYTALNEPTIDYGFQRL
QKVIPRHPGDPERLPKEVLLKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHN
QIPTLGNNPAHTGMMGVNSFSSQLAVNVSETSQANDQVGYSRNTSSVSPRGYVPSSTPQQ
SNYNTVSTSMNGYGSGAMASLGVPGSPGFLNGSSANSPYGIVPSSPTMAASSVTLPSNCS
STHGIFSFSPANVISAVKQKSAFAPVVRPQASPPPSCTSANGNGLQAMSGLVVPPM

Sequence length

596

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ataxia	Pathogenic	rs1057519389	RCV000417075 RCV000417073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs2493681198	RCV003127425	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Broad-based gait	Pathogenic	rs1057519437	RCV000416467	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental regression	Pathogenic	rs1057519437	RCV000416467	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EBF3-related disorder	Likely pathogenic; Pathogenic	rs2494042487, rs2493684497, rs1564816319	RCV004531571 RCV004528777 RCV002221583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Expressive language delay	Pathogenic	rs1057519389	RCV000417075 RCV000417073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Pathogenic	rs1057519437	RCV000416467	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs1057519389	RCV000417075 RCV000417073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Pathogenic	rs1057519389	RCV000417075 RCV000417073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia, ataxia, and delayed development syndrome	Likely pathogenic; Pathogenic	rs1268207836, rs1859684125, rs2134129705, rs2134129845, rs2134659512, rs2134610864, rs1484783852, rs2134659091, rs2134610480, rs2134610777, rs2134129924, rs2134659487, rs2134108087, rs1057519092, rs2134129636 View all (34 more)	RCV001331434 RCV001334634 RCV001594472 RCV001638191 RCV001706809 View all (48 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1057519389, rs1131692258	RCV000417075 RCV000417073 RCV005625639	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated Pierre-Robin syndrome	Pathogenic	rs1057519389	RCV000663416	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1057519522	RCV000505244	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurogenic bladder	Pathogenic	rs1057519437	RCV000416467	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oromandibular-limb hypogenesis spectrum	Likely pathogenic	rs886040976	RCV000258066	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis	Pathogenic	rs1057519437	RCV000416467	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-ATAXIA-HYPOTONIA-FACIAL DYSMORPHISM SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL DELETION 10Q SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MONOSOMY 10Q SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 102	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICO-URETERAL REFLUX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (96)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25609158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22684456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21132329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG	28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23456299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28017372, 28017373, 28487885, 29162653, 34999443	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29162653, 34256850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	17018599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	17018599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28017370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25609158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22684456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG	28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34999443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31383000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	28017373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23456299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28017370, 28017372, 28017373, 28487885, 29162653, 34256850, 34999443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Dysarthria	CLINVAR_DG	28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19627984, 20300201, 28017370, 28017372, 28017373, 28487885, 29062322, 29162653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29750239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29750239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	28017370, 28017373, 28487885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25609158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25609158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25609158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	28017372		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	BEFREE	28017373, 29062322		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	29162653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	29522175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29145252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME	Hypotonia, Ataxia, And Delayed Development Syndrome	UNIPROT_DG	28017370, 28017372, 28017373		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME	Hypotonia, Ataxia, And Delayed Development Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME	Hypotonia, Ataxia, And Delayed Development Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME	Hypotonia, Ataxia, And Delayed Development Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28017370, 28017372, 28017373, 28487885, 29162653	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	28017373		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	28017373, 28487885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25609158, 37271497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25609158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ 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 stomach	Stomach Neoplasms	BEFREE	21387304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22684456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22684456		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28030832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28030832, 29522175, 31383000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29522175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28030832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINVAR_DG	19627984, 20300201, 28017370, 28017372, 28017373, 28487885, 29062322, 29162653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34906623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17018599, 18559491, 21387304, 25609158, 29522175, 31383000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28017372, 28017373, 29062322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
obsolete Prominent epicanthal folds	Obsolete Prominent Epicanthal Folds	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23456299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30083784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	CLINVAR_DG	28017370, 28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29913442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23456299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	28017372, 29062322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18559491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21387304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	28017370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG	28017372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	29062322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	28017372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EBF3 (EBF transcription factor 3)