EYA1 (EYA transcriptional coactivator and phosphatase 1)

Gene

• Entrez ID: 2138
• Gene name: EYA transcriptional coactivator and phosphatase 1
• Gene symbol: EYA1
• Synonyms (NCBI Gene): BOP, BOR, BOS1, OFC1, OTFCS
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601653
• HGNC: 3519
• e!Ensembl: ENSG00000104313

Protein

• UniProt ID: 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
• 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

Pathways

KEGG:

Transcriptional misregulation in cancer

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
Abnormal anterior chamber morphology	Pathogenic	rs121909198	RCV000008399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anhydramnios	Pathogenic	rs2128850253	RCV001807680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior segment anomalies and cataract	Pathogenic	rs121909197	RCV000008398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral renal agenesis	Pathogenic	rs2128850253	RCV001807680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Branchiooculofacial syndrome	Likely pathogenic; Pathogenic	rs2128951565, rs121909196	RCV001849643 RCV001849260	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Branchiootic syndrome 1	Likely pathogenic; Pathogenic	rs2129000663, rs2128850973, rs1812855196, rs2129000653, rs2128850318, rs2128835296, rs727503042, rs121909195, rs2538023469, rs2537060641, rs121909196, rs121909202, rs606231356, rs780203392, rs2537209124, rs2536810012, rs2537274776, rs1060499603, rs1131691667, rs200164773, rs1563630117, rs397517920, rs397517917, rs1816289467	RCV002290700 RCV001568415 RCV001568418 RCV002051750 RCV002497892 RCV002254379 RCV002498692 RCV005049321 RCV000008393 RCV000008394 RCV002288475 RCV000008405 RCV000008407 RCV003330135 RCV003447693 RCV003449006 RCV004577628 RCV000477858 RCV001568416 RCV002483377 RCV002485576 RCV000763604 RCV000995541 RCV001568417	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal syndrome 1	Pathogenic; Likely pathogenic	rs530147851, rs2128904621, rs2128999627, rs2128850318, rs2128948223, rs2537009990, rs727503042, rs121909195, rs2537297705, rs606231355, rs121909196, rs2537010834, rs121909200, rs121909201, rs121909202, rs606231357, rs2537208469, rs2538023318, rs1060499603, rs1131691667, rs200164773, rs1554615511, rs1563630117, rs1563422304, rs397517920, rs529483320, rs139717960, rs1586244371, rs1816578250, rs1816566795, rs1809266780	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EYA1-related disorder	Pathogenic; Likely pathogenic	rs121909195, rs121909196, rs121909200, rs121909202, rs774997460, rs2537297433, rs1131691667, rs1563423589	RCV003390657 RCV004739295 RCV004739296 RCV004554585 RCV003394414 RCV003984389 RCV003403141 RCV003947952	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal segmental glomerulosclerosis	Likely pathogenic	rs397517920	RCV001849294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs2537297433	RCV005626832	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melnick-Fraser syndrome	Pathogenic; Likely pathogenic	rs530147851, rs2128835339, rs2128850357, rs2129000663, rs2128854024, rs2129031508, rs2128999627, rs2128853840, rs2129025227, rs2128854678, rs2128851194, rs2128999606, rs2128854105, rs2128853806, rs2128904613, rs2129000083, rs2128850318, rs2128835431, rs2128854556, rs2128854635, rs2537208023, rs529483320, rs2536797545, rs2537300215, rs2538021302, rs2537274008, rs2537274776, rs778305743, rs2537652626, rs2537280352, rs2537209067, rs2538053242, rs1563630117, rs121909195, rs121909196, rs121909200, rs869025180, rs121909202, rs606231357, rs2537017451, rs2537017106, rs2538054464, rs2537297433, rs2536811675, rs2537018716, rs2537012229, rs1131691667, rs1481254965, rs200164773, rs1554541834, rs1554615511, rs1554615536, rs1554596461, rs1554548840, rs1563621870, rs1563634200, rs1563422304, rs1563423589, rs1585717154, rs1585812463, rs1585817892, rs397517917, rs139717960, rs727503047, rs1816578250, rs1819903817, rs1586333305, rs1808471410, rs1816289467, rs1808464696, rs1812855196, rs1475718221, rs1822069596, rs1819990660	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR CHAMBER ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASYMMETRIC CRYING FACE ASSOCIATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOR SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRANCHIO-OTO-RENAL SYNDROME	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRANCHIOOTIC SYNDROME	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootorenal Spectrum Disorders	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootorenal syndrome with cataract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAYLER CARDIOFACIAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
common Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCTIVE HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METACHRONOUS COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOFACIOCERVICAL SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Serpentine fibula with polycystic kidney disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25816987		★☆☆☆☆ Found in Text Mining only
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT	Anterior segment anomalies	ORPHANET_DG	23840632, 9359046		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23979607		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23979607		★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	BEFREE	15493068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asymmetric crying face association	Asymmetric crying face association	CTD_human_DG	15493068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30394313		★☆☆☆☆ Found in Text Mining only
BOR syndrome	BOR Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	20695804		★☆☆☆☆ Found in Text Mining only
Branchio-Oculo-Facial Syndrome	Branchiooculofacial Syndrome	BEFREE	10767004		★☆☆☆☆ Found in Text Mining only
Branchio-Oculo-Facial Syndrome	Branchiooculofacial Syndrome	CTD_human_DG	12834866		★☆☆☆☆ Found in Text Mining only
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	CLINGEN_DG	10072433, 11734542, 14628042, 18220287, 19206155, 19951260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	BEFREE	10077726, 10429368, 10464653, 10471511, 10655545, 10767004, 11409867, 11734542, 11950062, 12404110, 14696767, 15146463, 15492887, 15684871, 16005355, 16491411, 16797546, 16971658, 17049623, 17357085, 17364338, 18220287, 18330911, 18759246, 19206155, 19951260, 20956555, 20979191, 21955869, 22447252, 23506628, 23840632, 24489909, 24590738, 24752894, 25816987, 27542115, 28583505, 30086703, 8786145, 8824802, 9361030, 9603436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	LHGDN	11683347, 16005355, 17049623, 17637804, 18220287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	CTD_human_DG	12834866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchioma	Branchioma	BEFREE	24590738		★☆☆☆☆ Found in Text Mining only
Branchioma	Branchioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Branchiootic syndrome	Branchiootic Syndrome	BEFREE	16813606, 24803398, 25926005, 29257230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootic syndrome	Branchiootic syndrome	Pubtator	16813606, 30221713	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootic syndrome	Branchiootic Syndrome	ORPHANET_DG	23840632, 9359046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootic syndrome	Branchiootic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Branchiootic syndrome	Branchiootic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	UNIPROT_DG	10655545, 12701758, 16691597, 9359046		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	ORPHANET_DG	23840632, 9359046		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	BEFREE	30221713		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	GENOMICS_ENGLAND_DG	9603436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRANCHIOOTIC SYNDROME 1	Branchiootic syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 1	Melnick-Fraser syndrome	CLINVAR_DG	10464653, 10991693, 15146463, 16691597, 18177466, 18220287, 19951260, 21280147, 24489909, 26969326, 27657687, 28832562		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 1	Melnick-Fraser syndrome	UNIPROT_DG	10464653, 10655545, 10991693, 11558900, 21280147, 9361030		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 1	Melnick-Fraser syndrome	CTD_human_DG	12834866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 1	Melnick-Fraser syndrome	GENOMICS_ENGLAND_DG	16441263, 9603436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 1	Melnick-Fraser syndrome	BEFREE	30221713		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchiootorenal Syndrome 2	Branchiootorenal Syndrome	CTD_human_DG	12834866		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23636126, 24752894, 24954506, 27082308, 27795300		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27795300	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	BEFREE	10471511, 11683347, 15141091, 16813606, 18763178, 25780253, 25926005, 28245130, 29257230, 9359046, 9556298		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	24429398, 27657687, 37499630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31731191	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37156847	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25816987		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18522750		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	21297019	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	21297019	Associate	★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	36833263	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	6700618		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29496520		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29496520		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	10471511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	CTD_human_DG	10471511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	24590738, 29500469		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	10655545, 15802522, 24489909		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	15493068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	22703781		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	LHGDN	16691597		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9603436		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	29043394		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30221713, 31992338, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23979607		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20979191	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	21968101		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	11409867		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34588521	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	29257230		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	36183486	Associate	★☆☆☆☆ Found in Text Mining only
Euthyroid Goiter	Euthyroid Goiter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	30221713	Associate	★☆☆☆☆ Found in Text Mining only
Fistula of branchial cleft	Fistula Of Branchial Cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23506628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	23727239	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20979191		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	23506628	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	20979191	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	22703781		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35114279, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34588521	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	7849713		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	21968101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17364338		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29500469		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31105839, 31731191		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23636126, 24752894, 24954506, 27082308, 27795300		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24729159		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24729159, 29496520, 30394313		★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23636126		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25816987		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29285235		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23979607		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29285235		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	CLINVAR_DG	27657687		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24729159, 29285235, 29496520, 31105839, 31686241		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19789318		★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	16441263, 21297019		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	21297019	Associate	★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical Syndrome	BEFREE	11409867, 16441263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otofaciocervical Syndrome	Otofaciocervical Syndrome	ORPHANET_DG	16441263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otofaciocervical syndrome	Otofaciocervical Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otofaciocervical Syndrome	Otofaciocervical Syndrome	GENOMICS_ENGLAND_DG	9603436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otofaciocervical Syndrome	Otofaciocervical Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	BEFREE	16441263, 31379922		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	GENOMICS_ENGLAND_DG	16441263, 9603436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillorenal syndrome	Renal Coloboma Syndrome	BEFREE	16971658		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	21968101		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	34864618	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	37612603	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	6964893		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	BEFREE	16971658		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	6964893		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29500469		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	15493068		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24729159		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34773364	Associate	★☆☆☆☆ Found in Text Mining only
Townes syndrome	Townes Syndrome	BEFREE	16971658		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16005355		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG	27657687		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	19789318	Associate	★☆☆☆☆ Found in Text Mining only