EYA4 (EYA transcriptional coactivator and phosphatase 4)

Gene

• Entrez ID: 2070
• Gene name: EYA transcriptional coactivator and phosphatase 4
• Gene symbol: EYA4
• Synonyms (NCBI Gene): CMD1J, DFNA10
• Chromosome: 6
• Chromosome location: 6q23.2
• Summary: This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41286200	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs143936434	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs876657644	A>C	Likely-pathogenic	Splice acceptor variant
rs878853223	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1554260888	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1554261728	->G	Likely-pathogenic	Intron variant
rs1554261974	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562447782	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583345314	TTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583410898	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583411013	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002568	hsa-miR-124-3p	Microarray	15685193
MIRT005750	hsa-miR-203a-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005754	hsa-miR-27b-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005755	hsa-miR-224-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT019463	hsa-miR-148b-3p	Microarray	17612493
MIRT021837	hsa-miR-132-3p	Microarray	17612493
MIRT022072	hsa-miR-128-3p	Microarray	17612493
MIRT002568	hsa-miR-124-3p	Microarray;Other	15685193
MIRT023358	hsa-miR-122-5p	Microarray	17612493
MIRT025147	hsa-miR-181a-5p	Microarray	17612493
MIRT973844	hsa-miR-1279	CLIP-seq
MIRT973845	hsa-miR-186	CLIP-seq
MIRT973846	hsa-miR-3133	CLIP-seq
MIRT973847	hsa-miR-3646	CLIP-seq
MIRT973848	hsa-miR-3922-5p	CLIP-seq
MIRT973849	hsa-miR-4744	CLIP-seq
MIRT973850	hsa-miR-513a-3p	CLIP-seq
MIRT973851	hsa-miR-129-5p	CLIP-seq
MIRT973852	hsa-miR-139-5p	CLIP-seq
MIRT973853	hsa-miR-4528	CLIP-seq
MIRT973854	hsa-miR-4797-5p	CLIP-seq
MIRT1988500	hsa-miR-4251	CLIP-seq
MIRT1988501	hsa-miR-4477b	CLIP-seq
MIRT1988502	hsa-miR-503	CLIP-seq
MIRT1988503	hsa-miR-3145-3p	CLIP-seq
MIRT2222954	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	19606496
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007601	Process	Visual perception	TAS	9887327
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9887327
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0045739	Process	Positive regulation of DNA repair	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	IEA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA

Other IDs

• MIM: 603550
• HGNC: 3522
• e!Ensembl: ENSG00000112319

Protein

• UniProt ID: O95677
• Protein name: Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absent homolog 4)
• Protein function: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair respo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00702	Hydrolase	369 → 615		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. {ECO:0000269|PubMed:15735644}.
• Sequence:

  MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSS
  TSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTF
  TGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTA
  YSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPGFSTPQPGQTPYSYQM
  PGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTA
  DGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNP
  SPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTH
  LFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRK
  LAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSWLTNALKSLSIISTRS
  NCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVV
  IGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL

• Sequence length: 639

Pathways

Reactome:

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

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
Autosomal dominant nonsyndromic hearing loss 10	Pathogenic; Likely pathogenic	rs2128674939, rs2128665075, rs2128665071, rs2128711268, rs2128707546, rs2128707619, rs1305000119, rs2128781753, rs878853223, rs2534855814, rs1554275988, rs1562505728, rs1800334076, rs1794473050	RCV001822876 RCV001823261 RCV001823238 RCV001580605 RCV002279737 RCV001804164 RCV002251117 RCV000006618 RCV000225045 RCV003155548 RCV001807645 RCV000761235 RCV001004794 RCV001262651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic	rs797045088, rs768710868	RCV002399708 RCV004516459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1J	Likely pathogenic; Pathogenic	rs2128268726, rs1441151762, rs2128674984, rs1199874172, rs1562470903, rs1293420539, rs2128674457, rs2484393292, rs2534357852, rs922202185, rs797045088, rs776491390, rs876657644, rs2535335554, rs2535379771, rs2535341785, rs1798601140, rs537561870, rs747954279, rs2535340134, rs2535525055, rs1793049226, rs1276849351, rs1554275988, rs1562498114	RCV001377326 RCV001377839 RCV001376836 RCV003507394 RCV001990312 RCV001954631 RCV002011598 RCV001892170 RCV002569775 RCV002594496 RCV002745225 RCV001378781 RCV002861754 RCV003037458 RCV003019639 RCV003034488 RCV003049924 RCV005104335 RCV003506823 RCV003616032 RCV003616429 RCV003616547 RCV003617056 RCV003117362 RCV002529807 RCV000693904	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EYA4-related disorder	Likely pathogenic; Pathogenic	rs797045088, rs1798601140, rs2535340015	RCV004528973 RCV004527945 RCV004531815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic	rs2128782580	RCV001375169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs1554275988	RCV006275871	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic	rs2128658900	RCV001544526	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2128674984	RCV005912582	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs797045088, rs876657644, rs1583345314	RCV004017475 RCV000223505 RCV000825583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1J	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEAFNESS, AUTOSOMAL DOMINANT 10	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	15824152		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28380439		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27378242		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	28767663	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	15824152		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31101108		★☆☆☆☆ Found in Text Mining only
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	BEFREE	15492887		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35607307, 37777742	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31385398	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31101108		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24096489		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37156847	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10769282, 26499333		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	15735644, 17567890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	15735644, 17567890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1J	Cardiomyopathy	ORPHANET_DG	15735644		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1J	Cardiomyopathy	GENOMICS_ENGLAND_DG	15735644, 9887327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1J	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated, 1J	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10769282, 17567890		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	33301229	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23867875	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16670426		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16469682, 23862763, 23867875, 25620232		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16670426, 21298349, 23867875, 23975090, 28351398, 28982739, 29436791, 32380793	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	15735644		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Deafness	Deafness	Pubtator	25963406, 34997062	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 10	Deafness	CLINVAR_DG	11159937, 15735644, 17567890, 25781927, 30828794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 10	Deafness	UNIPROT_DG	11159937, 22938506, 25809937, 25961296		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 10	Deafness	BEFREE	11558763, 26331839, 27142990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 10	Deafness	GENOMICS_ENGLAND_DG	15735644, 9887327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 10	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15735644, 17567890, 27142990		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15824152, 19939248		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15824152, 19939248		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36453428	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30231237		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22938506, 25242383, 25781927, 25963406, 30123251, 31101089, 32107406, 33301229, 39358765	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	25961296, 25963406, 31101089	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33301229	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15735644		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	BEFREE	19606496		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23347191	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19576303		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	36453428	Inhibit	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	27469137		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27231175	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27231175	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	27015871		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24306662, 27378242, 29764501, 30957411, 31385398		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24096489		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24096489	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15824152, 19939248		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24096489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	27015871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31101108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15824152, 27015871, 30231237		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19901965		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16670426		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19576303		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15735644, 17567890, 27142990		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16469682, 24096489, 24306662, 25620232, 27015871, 27231175, 27378242, 27469137, 28380439, 29660222, 29764501, 30231237, 30957411		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24096489		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10982027, 17567890		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11159937, 15735644, 17568404, 18219393, 25242383, 25681523, 25963406, 26331839, 27545760, 29054432		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	BEFREE	9887327		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	18219392, 29054432		★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical Syndrome	BEFREE	31379922		★☆☆☆☆ Found in Text Mining only
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	BEFREE	31379922		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27378242		★☆☆☆☆ Found in Text Mining only
Sensorineural deafness with dilated cardiomyopathy	Sensorineural Deafness With Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10769282, 11558763, 15735644, 17567890, 17568404, 19576303, 25809937, 25961296, 26331839, 29054432		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	15735644		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19939248, 29660222		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	36453428	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	29287889		★☆☆☆☆ Found in Text Mining only