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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2138
Gene name	EYA transcriptional coactivator and phosphatase 1
Gene symbol	EYA1
Synonyms (NCBI Gene)	BOPBORBOS1OFC1OTFCS
Chromosome	8
Chromosome location	8q13.3
Summary	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, bra

Show/Hide all (50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909195	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs121909196	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909197	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909198	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121909199	C>T	Likely-benign, uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs121909200	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909201	A>C	Pathogenic	Missense variant, coding sequence variant
rs121909202	G>A,T	Pathogenic	Synonymous variant, intron variant, stop gained, coding sequence variant
rs139717960	G>A,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs200164773	G>A,T	Pathogenic	Stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant
rs373102227	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397517916	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397517917	C>A,T	Pathogenic	Splice acceptor variant
rs397517918	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397517919	->A	Pathogenic	Coding sequence variant, frameshift variant
rs529483320	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs606231355	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231356	GTTGTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231357	C>T	Pathogenic	Intron variant
rs727503042	C>G	Pathogenic	Splice donor variant
rs727504494	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs753245290	C>T	Likely-pathogenic	Splice donor variant
rs869025180	C>T	Pathogenic	Splice donor variant
rs876657689	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs876657690	CCGTACGGCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657691	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039674	GT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886042006	C>T	Pathogenic	Splice donor variant
rs1057520766	T>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1060499603	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691667	G>A	Pathogenic	Coding sequence variant, stop gained
rs1481254965	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554541834	GAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554542073	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554548840	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554550637	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554596461	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554615511	A>C	Pathogenic	Coding sequence variant, stop gained
rs1554615536	AGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563422304	G>A	Pathogenic	Coding sequence variant, stop gained
rs1563422500	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1563423589	G>C	Pathogenic	Coding sequence variant, stop gained
rs1563630117	C>T	Pathogenic	Splice donor variant
rs1563630128	C>G	Pathogenic	Coding sequence variant, missense variant
rs1563630587	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1563634200	C>T	Pathogenic	Splice acceptor variant
rs1585812463	AGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585817892	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585820240	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586244371	->ACAC	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000035	hsa-miR-562	Luciferase reporter assay	19789318
MIRT973690	hsa-miR-101	CLIP-seq
MIRT973691	hsa-miR-1243	CLIP-seq
MIRT973692	hsa-miR-128	CLIP-seq
MIRT973693	hsa-miR-2278	CLIP-seq
MIRT973694	hsa-miR-27a	CLIP-seq
MIRT973695	hsa-miR-27b	CLIP-seq
MIRT973696	hsa-miR-28-3p	CLIP-seq
MIRT973697	hsa-miR-4320	CLIP-seq
MIRT973698	hsa-miR-4420	CLIP-seq
MIRT973699	hsa-miR-5096	CLIP-seq
MIRT973700	hsa-miR-513a-5p	CLIP-seq
MIRT973701	hsa-miR-646	CLIP-seq
MIRT973702	hsa-miR-933	CLIP-seq
MIRT973703	hsa-miR-1244	CLIP-seq
MIRT973704	hsa-miR-1261	CLIP-seq
MIRT973705	hsa-miR-1266	CLIP-seq
MIRT973706	hsa-miR-3144-3p	CLIP-seq
MIRT973707	hsa-miR-320a	CLIP-seq
MIRT973708	hsa-miR-320b	CLIP-seq
MIRT973709	hsa-miR-320c	CLIP-seq
MIRT973710	hsa-miR-320d	CLIP-seq
MIRT973711	hsa-miR-323-3p	CLIP-seq
MIRT973712	hsa-miR-3667-3p	CLIP-seq
MIRT973713	hsa-miR-3691-3p	CLIP-seq
MIRT973714	hsa-miR-369-3p	CLIP-seq
MIRT973715	hsa-miR-374a	CLIP-seq
MIRT973716	hsa-miR-374b	CLIP-seq
MIRT973717	hsa-miR-374c	CLIP-seq
MIRT973718	hsa-miR-4261	CLIP-seq
MIRT973719	hsa-miR-4429	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT973721	hsa-miR-4518	CLIP-seq
MIRT973722	hsa-miR-4719	CLIP-seq
MIRT973723	hsa-miR-4760-3p	CLIP-seq
MIRT973724	hsa-miR-4777-3p	CLIP-seq
MIRT973725	hsa-miR-513b	CLIP-seq
MIRT973726	hsa-miR-542-3p	CLIP-seq
MIRT973727	hsa-miR-593	CLIP-seq
MIRT973728	hsa-miR-622	CLIP-seq
MIRT973729	hsa-miR-655	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq
MIRT973731	hsa-miR-875-5p	CLIP-seq
MIRT1988454	hsa-miR-3121-3p	CLIP-seq
MIRT1988455	hsa-miR-421	CLIP-seq
MIRT973718	hsa-miR-4261	CLIP-seq
MIRT1988456	hsa-miR-433	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT1988457	hsa-miR-4502	CLIP-seq
MIRT1988458	hsa-miR-4691-5p	CLIP-seq
MIRT1988459	hsa-miR-4709-5p	CLIP-seq
MIRT1988460	hsa-miR-4762-3p	CLIP-seq
MIRT1988461	hsa-miR-4774-5p	CLIP-seq
MIRT1988462	hsa-miR-505	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq
MIRT1988454	hsa-miR-3121-3p	CLIP-seq
MIRT2222900	hsa-miR-3647-3p	CLIP-seq
MIRT1988455	hsa-miR-421	CLIP-seq
MIRT973720	hsa-miR-4496	CLIP-seq
MIRT1988457	hsa-miR-4502	CLIP-seq
MIRT1988459	hsa-miR-4709-5p	CLIP-seq
MIRT1988460	hsa-miR-4762-3p	CLIP-seq
MIRT2222901	hsa-miR-4789-5p	CLIP-seq
MIRT1988462	hsa-miR-505	CLIP-seq
MIRT973728	hsa-miR-622	CLIP-seq
MIRT973730	hsa-miR-873	CLIP-seq

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine 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	15141091, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19234442, 19497856
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	19497856
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	19234442
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007501	Process	Mesodermal cell fate specification	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020840
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9020840
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	19234442
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032993	Component	Protein-DNA complex	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045664	Process	Regulation of neuron differentiation	IEA
GO:0045739	Process	Positive regulation of DNA repair	IBA
GO:0045739	Process	Positive regulation of DNA repair	IMP	19234442
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071600	Process	Otic vesicle morphogenesis	IEA
GO:0072513	Process	Positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0140793	Function	Histone H2AXY142 phosphatase activity	IDA	19234442
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
601653	3519	ENSG00000104313

Q99502

Protein name

Protein phosphatase EYA1 (EC 3.1.3.16) (EC 3.1.3.48) (Eyes absent homolog 1)

Protein function

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficien

Family and domains

Tissue specificity

TISSUE SPECIFICITY: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Sequence

MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGS
LNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQ
ATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPY
SYQMQGSSFTTSSGIYTGNNSLTNSSGFNSSQQDYPSYPSFGQGQYAQYYNSSPYPAHYM
TSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSD
GKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGL
RMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLT
LALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFER
IIQRFGRKVVYVVIGDGVEEEQGAKKHAMPFWRISSHSDLMALHHALELEYL

Sequence length

592

Interactions

View interactions

	KEGG		Reactome
	Transcriptional misregulation in cancer		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

868

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal anterior chamber morphology	Pathogenic	rs121909198	RCV000008399
Anhydramnios	Pathogenic	rs2128850253	RCV001807680
Anterior segment anomalies and cataract	Pathogenic	rs121909197	RCV000008398
Bilateral renal agenesis	Pathogenic	rs2128850253	RCV001807680
Branchiooculofacial syndrome	Likely pathogenic; Pathogenic	rs2128951565, rs121909196	RCV001849643 RCV001849260
Branchiootic syndrome 1	Likely pathogenic; Pathogenic	rs2129000663, rs2128850973, rs1812855196, rs2129000653, rs2128850318, rs2128835296, rs727503042, rs121909195, rs2538023469, rs2537060641, rs121909196, rs121909202, rs606231356, rs780203392, rs2537209124 View all (9 more)	RCV002290700 RCV001568415 RCV001568418 RCV002051750 RCV002497892 RCV002254379 RCV002498692 RCV005049321 RCV000008393 RCV000008394 RCV002288475 RCV000008405 RCV000008407 RCV003330135 RCV003447693 RCV003449006 RCV004577628 RCV000477858 RCV001568416 RCV002483377 RCV002485576 RCV000763604 RCV000995541 RCV001568417
Branchiootorenal syndrome 1	Pathogenic; Likely pathogenic	rs530147851, rs2128904621, rs2128999627, rs2128850318, rs2128948223, rs2537009990, rs727503042, rs121909195, rs2537297705, rs606231355, rs121909196, rs2537010834, rs121909200, rs121909201, rs121909202 View all (16 more)	RCV004554859 RCV001733513 RCV003985859 RCV002497892 RCV002272754 RCV002288389 RCV002498692 RCV000008391 RCV000008392 RCV000008396 RCV000008397 RCV000008401 RCV000008402 RCV000008403 RCV000008406 RCV000008408 RCV003123356 RCV003148472 RCV000477858 RCV002481568 RCV002483377 RCV000625536 RCV002485576 RCV002470952 RCV000763604 RCV000995542 RCV001003414 RCV001029972 RCV003336276 RCV001281295 RCV001251477
EYA1-related disorder	Pathogenic; Likely pathogenic	rs121909195, rs121909196, rs121909200, rs121909202, rs774997460, rs2537297433, rs1131691667, rs1563423589	RCV003390657 RCV004739295 RCV004739296 RCV004554585 RCV003394414 RCV003984389 RCV003403141 RCV003947952
Focal segmental glomerulosclerosis	Likely pathogenic	rs397517920	RCV001849294
Hereditary ataxia	Likely pathogenic; Pathogenic	rs2537297433	RCV005626832
Melnick-Fraser syndrome	Pathogenic; Likely pathogenic	rs530147851, rs2128835339, rs2128850357, rs2129000663, rs2128854024, rs2129031508, rs2128999627, rs2128853840, rs2129025227, rs2128854678, rs2128851194, rs2128999606, rs2128854105, rs2128853806, rs2128904613 View all (59 more)	RCV001380783 RCV001380784 RCV001385240 RCV001381440 RCV001945743 RCV001960114 RCV001980140 RCV001878771 RCV001994827 RCV001962923 RCV002013780 RCV001964954 RCV001956351 RCV001972766 RCV001947082 RCV001951414 RCV001963158 RCV001881858 RCV002015784 RCV005095968 RCV003058198 RCV003037298 RCV002795252 RCV002810306 RCV002851401 RCV002847544 RCV002847545 RCV002863615 RCV002858361 RCV002872633 RCV002943391 RCV003045977 RCV003019374 RCV001851734 RCV002228019 RCV003593858 RCV002512904 RCV002228020 RCV001851735 RCV003594819 RCV003595230 RCV003595469 RCV003593372 RCV003594548 RCV003760827 RCV003761111 RCV000695248 RCV002231040 RCV002231280 RCV002231282 RCV002233903 RCV002233959 RCV002234431 RCV002233960 RCV005414328 RCV002232989 RCV002233368 RCV002232861 RCV003594024 RCV000798562 RCV000813567 RCV002235903 RCV001858815 RCV002549211 RCV001059296 RCV001035542 RCV001061934 RCV001047595 RCV001039015 RCV001059303 RCV001216108 RCV001224614 RCV001230973 RCV001230509 RCV001328201
Otofaciocervical syndrome 1	Pathogenic; Likely pathogenic	rs2128850318, rs727503042, rs121909195, rs121909196, rs869025180, rs121909202, rs2537205726, rs1060499603, rs1131691667, rs200164773, rs1563630117, rs397517920	RCV002497892 RCV002498692 RCV005049321 RCV004795383 RCV000008404 RCV005042015 RCV003219188 RCV000477858 RCV002481568 RCV002483377 RCV002485576 RCV000763604
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727503042, rs727504494, rs876657689, rs876657691, rs876657690, rs121909195, rs121909196, rs1554550637, rs397517916, rs397517917, rs397517918, rs397517919, rs397517920, rs1585820240	RCV000150668 RCV000155629 RCV000221224 RCV000219278 RCV000215585 RCV000844696 RCV000844628 RCV000600507 RCV000041385 RCV000041388 RCV000041389 RCV000041390 RCV000041392 RCV000825582

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs117149407	RCV005890238
Branchiootorenal Spectrum Disorders	Uncertain significance; Likely benign; Benign	rs886063095, rs35320129, rs886063099, rs886063085, rs570995924, rs371488223, rs886063096, rs886063100, rs553875263, rs146202037, rs142792208, rs574723016, rs112480709	RCV000326952 RCV000401334 RCV000337642 RCV000393653 RCV000355286 RCV000272473 RCV000292091 RCV000402343 RCV000392551 RCV000300595 RCV000338465 RCV000262420 RCV000348756 RCV000308373
Branchiootorenal syndrome with cataract	Conflicting classifications of pathogenicity	rs121909199	RCV000008400
Clear cell carcinoma of kidney	Benign	rs117149407	RCV005890241
common Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)	Uncertain significance	rs202168841	RCV005254689
Developmental cataract	Conflicting classifications of pathogenicity	rs139717960	RCV001775005
Familial pancreatic carcinoma	Benign	rs117149407	RCV005890242
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs138234228, rs201504674	RCV001375407 RCV001375139
Malignant tumor of esophagus	Benign	rs117149407	RCV005890239
Ovarian cancer	Benign	rs117149407	RCV005890240
Ovarian serous cystadenocarcinoma	Benign	rs117149407	RCV005890244
Prostate cancer	Uncertain significance	rs193920835	RCV000149002
Renal hypoplasia	Conflicting classifications of pathogenicity	rs561111097	RCV000234887
Sarcoma	Benign	rs117149407	RCV005890243
Serpentine fibula with polycystic kidney disease	Uncertain significance	rs202168841	RCV005254689
Thymoma	Benign	rs117149407	RCV005890246
Uterine carcinosarcoma	Benign	rs117149407	RCV005890245

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Branchio Oto Renal Syndrome	Associate	15141091, 16813606, 17357085, 19215039, 20979191, 21280147, 23506628, 23840632, 30086703, 30221713, 33880118, 34160378, 35046468, 35545373, 35698919 View all (7 more)
Branchiootic syndrome	Associate	16813606, 30221713
Breast Neoplasms	Associate	27795300
Buschke Ollendorff syndrome	Associate	33880118
Cakut	Associate	24429398, 27657687, 37499630
Carcinoma Hepatocellular	Associate	31731191
Carcinoma Renal Cell	Associate	37156847
Cochlear Diseases	Associate	36833263
Deafness	Associate	30221713, 31992338, 35248088
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	15141091
Developmental Disabilities	Associate	20979191
Epilepsy	Associate	34588521
Essential Tremor	Associate	36183486
familial dilated cardiomyopathy	Associate	30221713
Fetal Diseases	Associate	36316881
Glioma	Associate	23727239
Glomerulosclerosis Focal Segmental	Associate	23506628
Growth Disorders	Associate	20979191
Hearing Loss	Associate	35114279, 35248088
Hemangioma Cavernous Central Nervous System	Associate	34588521
Hemorrhage	Associate	34588521
Nonsyndromic sensorineural hearing loss	Associate	30733538
Peptic Ulcer	Associate	34864618
Proteinuria	Associate	37612603
Renal Insufficiency Chronic	Associate	18522750
Severe Acute Respiratory Syndrome	Associate	30733538
Stomach Ulcer	Associate	34864618
Thyroid Cancer Papillary	Associate	34773364
Vesico Ureteral Reflux	Associate	22558067
Wilms Tumor	Associate	19789318

EYA1 (EYA transcriptional coactivator and phosphatase 1)