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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	5076
Gene name	Paired box 2
Gene symbol	PAX2
Synonyms (NCBI Gene)	FSGS7PAPRSPAX-2
Chromosome	10
Chromosome location	10q24.31
Summary	PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcrip

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41291450	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs75399846	C>T	Pathogenic, not-provided	Stop gained, genic downstream transcript variant, coding sequence variant
rs75462234	G>-,GG,GGG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs76675173	TGGCCCACCAGGGTGTGCGGCC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs77777862	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs78122364	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs78738655	C>T	Likely-pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs79555199	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs104894170	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs139724326	C>G,T	Likely-pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs387906530	->AGACCG	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe insertion
rs543423053	G>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs587777708	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs747453876	T>C	Pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs754146050	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs878853000	G>A,T	Likely-pathogenic	Intron variant
rs886037754	GC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886037755	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs886037756	->GTGAACC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886037757	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1057518761	TACTACGAGACCGG>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1131692055	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1554856032	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1554856034	->GGGTG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554865146	C>G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1564706226	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1564706973	A>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1564722420	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1589813539	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1589813731	->GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant

139

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miRTarBase ID	miRNA	Experiments	Reference
MIRT038163	hsa-miR-423-5p	CLASH	23622248
MIRT488364	hsa-miR-1321	PAR-CLIP	23592263
MIRT488363	hsa-miR-4739	PAR-CLIP	23592263
MIRT488362	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488361	hsa-miR-4688	PAR-CLIP	23592263
MIRT488360	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT488359	hsa-miR-4270	PAR-CLIP	23592263
MIRT488357	hsa-miR-4441	PAR-CLIP	23592263
MIRT488358	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT488356	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT488355	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT038163	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT488354	hsa-miR-3148	PAR-CLIP	23592263
MIRT488353	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT488352	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT488351	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT488350	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT488349	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT488348	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT488347	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488346	hsa-miR-5090	PAR-CLIP	23592263
MIRT488344	hsa-miR-6775-5p	PAR-CLIP	23592263
MIRT488345	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT488343	hsa-miR-744-5p	PAR-CLIP	23592263
MIRT488342	hsa-miR-4649-5p	PAR-CLIP	23592263
MIRT488341	hsa-miR-6729-5p	PAR-CLIP	23592263
MIRT488340	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT488339	hsa-miR-4488	PAR-CLIP	23592263
MIRT488338	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT488364	hsa-miR-1321	PAR-CLIP	23592263
MIRT488363	hsa-miR-4739	PAR-CLIP	23592263
MIRT488362	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT488361	hsa-miR-4688	PAR-CLIP	23592263
MIRT488360	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT488359	hsa-miR-4270	PAR-CLIP	23592263
MIRT488357	hsa-miR-4441	PAR-CLIP	23592263
MIRT488358	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT488356	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT488355	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT038163	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT488354	hsa-miR-3148	PAR-CLIP	23592263
MIRT488353	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT488352	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT488351	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT488350	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT488349	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT488348	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT488347	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT488346	hsa-miR-5090	PAR-CLIP	23592263
MIRT488344	hsa-miR-6775-5p	PAR-CLIP	23592263
MIRT488345	hsa-miR-2277-5p	PAR-CLIP	23592263
MIRT488343	hsa-miR-744-5p	PAR-CLIP	23592263
MIRT488342	hsa-miR-4649-5p	PAR-CLIP	23592263
MIRT488341	hsa-miR-6729-5p	PAR-CLIP	23592263
MIRT488340	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT488339	hsa-miR-4488	PAR-CLIP	23592263
MIRT488338	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT1215260	hsa-miR-2467-5p	CLIP-seq
MIRT1215261	hsa-miR-3180	CLIP-seq
MIRT1215262	hsa-miR-3180-3p	CLIP-seq
MIRT1215263	hsa-miR-3188	CLIP-seq
MIRT1215264	hsa-miR-3196	CLIP-seq
MIRT1215265	hsa-miR-342-5p	CLIP-seq
MIRT1215266	hsa-miR-3975	CLIP-seq
MIRT1215267	hsa-miR-4316	CLIP-seq
MIRT1215268	hsa-miR-4505	CLIP-seq
MIRT1215269	hsa-miR-4651	CLIP-seq
MIRT1215270	hsa-miR-4654	CLIP-seq
MIRT1215271	hsa-miR-4664-5p	CLIP-seq
MIRT1215272	hsa-miR-4710	CLIP-seq
MIRT1215273	hsa-miR-4731-5p	CLIP-seq
MIRT1215274	hsa-miR-4769-5p	CLIP-seq
MIRT1215275	hsa-miR-485-5p	CLIP-seq
MIRT1215276	hsa-miR-608	CLIP-seq
MIRT1215277	hsa-miR-1289	CLIP-seq
MIRT1215278	hsa-miR-3619-3p	CLIP-seq
MIRT1215279	hsa-miR-4700-3p	CLIP-seq
MIRT1215280	hsa-miR-4716-5p	CLIP-seq
MIRT1215281	hsa-miR-591	CLIP-seq
MIRT1215282	hsa-let-7a	CLIP-seq
MIRT1215283	hsa-let-7b	CLIP-seq
MIRT1215284	hsa-let-7c	CLIP-seq
MIRT1215285	hsa-let-7d	CLIP-seq
MIRT1215286	hsa-let-7e	CLIP-seq
MIRT1215287	hsa-let-7f	CLIP-seq
MIRT1215288	hsa-let-7g	CLIP-seq
MIRT1215289	hsa-let-7i	CLIP-seq
MIRT1215290	hsa-miR-1273	CLIP-seq
MIRT1215291	hsa-miR-127-3p	CLIP-seq
MIRT1215292	hsa-miR-139-3p	CLIP-seq
MIRT1215293	hsa-miR-202	CLIP-seq
MIRT1215260	hsa-miR-2467-5p	CLIP-seq
MIRT1215294	hsa-miR-3141	CLIP-seq
MIRT1215261	hsa-miR-3180	CLIP-seq
MIRT1215262	hsa-miR-3180-3p	CLIP-seq
MIRT1215263	hsa-miR-3188	CLIP-seq
MIRT1215264	hsa-miR-3196	CLIP-seq
MIRT1215295	hsa-miR-3612	CLIP-seq
MIRT1215266	hsa-miR-3975	CLIP-seq
MIRT1215296	hsa-miR-4293	CLIP-seq
MIRT1215297	hsa-miR-4458	CLIP-seq
MIRT1215298	hsa-miR-4500	CLIP-seq
MIRT1215268	hsa-miR-4505	CLIP-seq
MIRT1215273	hsa-miR-4731-5p	CLIP-seq
MIRT1215299	hsa-miR-4743	CLIP-seq
MIRT1215300	hsa-miR-4767	CLIP-seq
MIRT1215275	hsa-miR-485-5p	CLIP-seq
MIRT1215301	hsa-miR-596	CLIP-seq
MIRT1215302	hsa-miR-650	CLIP-seq
MIRT1215303	hsa-miR-658	CLIP-seq
MIRT1215304	hsa-miR-98	CLIP-seq
MIRT2290435	hsa-miR-1276	CLIP-seq
MIRT1215292	hsa-miR-139-3p	CLIP-seq
MIRT2290436	hsa-miR-185	CLIP-seq
MIRT2290437	hsa-miR-1972	CLIP-seq
MIRT2290438	hsa-miR-214	CLIP-seq
MIRT2290439	hsa-miR-2682	CLIP-seq
MIRT2290440	hsa-miR-3150a-3p	CLIP-seq
MIRT2290441	hsa-miR-3175	CLIP-seq
MIRT2290442	hsa-miR-3190	CLIP-seq
MIRT2290443	hsa-miR-3192	CLIP-seq
MIRT2290444	hsa-miR-3619-5p	CLIP-seq
MIRT2290445	hsa-miR-3665	CLIP-seq
MIRT2290446	hsa-miR-4306	CLIP-seq
MIRT2290447	hsa-miR-4459	CLIP-seq
MIRT2290448	hsa-miR-449c	CLIP-seq
MIRT2290449	hsa-miR-4519	CLIP-seq
MIRT2290450	hsa-miR-4530	CLIP-seq
MIRT2290451	hsa-miR-4644	CLIP-seq
MIRT2290452	hsa-miR-4667-5p	CLIP-seq
MIRT2290453	hsa-miR-4700-5p	CLIP-seq
MIRT2290454	hsa-miR-665	CLIP-seq
MIRT2290455	hsa-miR-7	CLIP-seq
MIRT2290456	hsa-miR-761	CLIP-seq
MIRT2290457	hsa-miR-765	CLIP-seq
MIRT2290458	hsa-miR-939	CLIP-seq
MIRT2290459	hsa-miR-940	CLIP-seq
MIRT2392148	hsa-miR-4728-5p	CLIP-seq
MIRT2290459	hsa-miR-940	CLIP-seq

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Transcription factor	Regulation	Reference
WT1	Repression	9738017;9916932

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9178767, 16368682, 16735463, 19048125
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:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	19118900
GO:0001655	Process	Urogenital system development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEP	1337742
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001709	Process	Cell fate determination	ISS
GO:0001823	Process	Mesonephros development	ISS
GO:0001843	Process	Neural tube closure	ISS
GO:0002072	Process	Optic cup morphogenesis involved in camera-type eye development	ISS
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0003406	Process	Retinal pigment epithelium development	ISS
GO:0003677	Function	DNA binding	IDA	24676634
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003677	Function	DNA binding	TAS	9106533
GO:0003700	Function	DNA-binding transcription factor activity	IMP	11940591
GO:0005515	Function	Protein binding	IPI	9178767, 15785774, 21575608
GO:0005634	Component	Nucleus	IDA	19048125
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IBA
GO:0007409	Process	Axonogenesis	TAS	9106533
GO:0007423	Process	Sensory organ development	IBA
GO:0007501	Process	Mesodermal cell fate specification	ISS
GO:0007601	Process	Visual perception	TAS	9106533
GO:0008134	Function	Transcription factor binding	IPI	24676634
GO:0010001	Process	Glial cell differentiation	ISS
GO:0021554	Process	Optic nerve development	ISS
GO:0021631	Process	Optic nerve morphogenesis	ISS
GO:0021633	Process	Optic nerve structural organization	ISS
GO:0021650	Process	Vestibulocochlear nerve formation	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0032993	Component	Protein-DNA complex	ISS
GO:0034451	Component	Centriolar satellite	IDA	18000879
GO:0035566	Process	Regulation of metanephros size	IMP	17513325
GO:0035799	Process	Ureter maturation	ISS
GO:0039003	Process	Pronephric field specification	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0043010	Process	Camera-type eye development	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10980123
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17357786
GO:0043069	Process	Negative regulation of programmed cell death	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	19118900
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16368682, 17357786, 19048125, 24676634
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	11940591
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16735463
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0048793	Process	Pronephros development	ISS
GO:0048854	Process	Brain morphogenesis	ISS
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IDA	17357786
GO:0060231	Process	Mesenchymal to epithelial transition	ISS
GO:0061360	Process	Optic chiasma development	ISS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0071333	Process	Cellular response to glucose stimulus	ISS
GO:0072075	Process	Metanephric mesenchyme development	ISS
GO:0072108	Process	Positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	ISS
GO:0072162	Process	Metanephric mesenchymal cell differentiation	ISS
GO:0072179	Process	Nephric duct formation	ISS
GO:0072189	Process	Ureter development	ISS
GO:0072205	Process	Metanephric collecting duct development	ISS
GO:0072207	Process	Metanephric epithelium development	IEP	7856737
GO:0072221	Process	Metanephric distal convoluted tubule development	ISS
GO:0072289	Process	Metanephric nephron tubule formation	ISS
GO:0072300	Process	Positive regulation of metanephric glomerulus development	ISS
GO:0072305	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis	ISS
GO:0072307	Process	Regulation of metanephric nephron tubule epithelial cell differentiation	ISS
GO:0090102	Process	Cochlea development	ISS
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:1900212	Process	Negative regulation of mesenchymal cell apoptotic process involved in metanephros development	ISS
GO:1900215	Process	Negative regulation of apoptotic process involved in metanephric collecting duct development	ISS
GO:1900218	Process	Negative regulation of apoptotic process involved in metanephric nephron tubule development	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IDA	17357786
GO:2000594	Process	Positive regulation of metanephric DCT cell differentiation	ISS
GO:2000597	Process	Positive regulation of optic nerve formation	ISS

MIM	HGNC	e!Ensembl
167409	8616	ENSG00000075891

Q02962

Protein name

Paired box protein Pax-2

Protein function

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00292	PAX	16 → 140		Domain
PF12403	Pax2_C	304 → 416	Paired-box protein 2 C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Sequence

MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRV
SHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLA
EGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTAPGHTIVPSTASPPVSSASND
PVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGGGGLHLVWTLRDVSEGSVPNGDS
QSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGL
DEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAG
MVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH

Sequence length

417

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 (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anomaly of kidney and urinary tract	Pathogenic	rs75462234	RCV001328165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital ocular coloboma	Pathogenic	rs2492900348	RCV002291342	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Likely pathogenic; Pathogenic	rs2133836347, rs1845411121, rs75462234	RCV001849674 RCV001849675 RCV001849315	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis 7	Pathogenic; Likely pathogenic	rs1217241110, rs2133836340, rs2133894054, rs2133956435, rs1554856032, rs922533851, rs2133833948, rs2133950639, rs2133950621, rs1845366198, rs2133894273, rs1131692055, rs76492282, rs75462234, rs2133956351 View all (27 more)	RCV001377630 RCV001385353 RCV001390508 RCV001385354 RCV001391110 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glomerular sclerosis	Pathogenic	rs75462234	RCV004798785	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs1054215531	RCV001328164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillorenal syndrome with macular abnormalities	Pathogenic	rs104894170	RCV000014816	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAX2-related disorder	Pathogenic; Likely pathogenic	rs1217241110, rs922533851, rs76492282, rs75462234, rs2133833987, rs2492893048, rs2493149679, rs139724326, rs79555199	RCV004531187 RCV001733843 RCV005867925 RCV004532628 RCV004531572 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal coloboma syndrome	Pathogenic; Likely pathogenic	rs1217241110, rs2133836340, rs2133894054, rs2133956435, rs922533851, rs2133950639, rs2133834027, rs1845411121, rs2133950621, rs1845366198, rs2133894273, rs76492282, rs75399846, rs75462234, rs2133950547 View all (38 more)	RCV001377630 RCV001385353 RCV001390508 RCV001385354 RCV002243456 View all (53 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cyst	Likely pathogenic	rs1057518761	RCV000415347	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal hypoplasia	Likely pathogenic	rs2133897844	RCV001807653	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs2133836347, rs1845411121, rs75462234	RCV001849674 RCV001849675 RCV001849315	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL HYPOPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL HYALINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL GLOMERULONEPHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, FOCAL AND SEGMENTAL GLOMERULAR LESIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLORENAL SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cysts and diabetes syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (234)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	22168360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22274645, 22963903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	22766790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16400326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG	27657687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	31576025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	BEFREE	22350371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23158209, 29357419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	10532715		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31622355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30804206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	10532715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11371938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral renal hypoplasia	Bilateral renal hypoplasia	ORPHANET_DG	11461952, 17513325, 22138676, 23539225		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral renal hypoplasia	Bilateral renal hypoplasia	BEFREE	29973660		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12970747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11850818, 22168360, 23230135, 29857823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19005469, 22168360, 24203627, 28412963, 32843722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	23539225, 24633556, 26489027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	23539225, 24429398, 24676634, 26489027, 27657687, 32203225, 34696790, 36835576	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	14627715, 20562848, 20597068, 20631067, 23890189, 27764784, 29270778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19118900, 19525924, 20562848, 22498671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35028121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	20562848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12970747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31622355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11240827, 15502805, 19401348, 20670131, 20679884, 21151099, 22495365, 23194047, 23890189, 26527083, 36510186, 37511191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26823795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	11240827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	21196340, 30400021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21761365, 27513319, 27991925, 30096791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	34417833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar hemangioblastoma	Cerebellar hemangioblastoma	BEFREE	29629948		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30132866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30132866		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	10869107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23800802, 29973660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21380624, 23800802, 29973660, 30241513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	28426529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	21380624, 26571382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	BEFREE	11730657, 17541647, 20943750, 8661132, 9132492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	CLINVAR_DG	26571382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of optic nerve	Coloboma	Pubtator	9598733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	BEFREE	12503095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23135283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19467152, 20670131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19342968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	36918055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21380624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	10533062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	10466411, 12503095, 8188301, 8661132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	29054766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11274636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	10535325, 10587573, 17541647, 22213154, 30241513		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	23647375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	10587573, 12503095, 21108633, 26571382, 7795640, 9783702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11240827, 16609680, 19401348, 20679884, 20952286, 21880579, 23957913, 7664285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	12138259, 8737865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	10694420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	12488983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28315934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21380624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28315934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	BEFREE	12488983		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	30400021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	20631067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16355216, 20597068, 21627862, 22274645, 27764784, 30405846, 30511741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	20597068	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	22317873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	30511741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27764784, 35018885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22473392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22473392		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	CTD_human_DG	22473392		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	35387670	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	17082250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25613757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25613757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25613757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25613757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	11168927, 20359920, 31060108, 36835576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	36490268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23800802, 24154691, 26571382, 30399566, 31001663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	Focal segmental glomerulosclerosis	CLINVAR_DG	24676634		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	24676634, 26571382, 9916932		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	Focal segmental glomerulosclerosis	UNIPROT_DG	24676634		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	31001663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	36980184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19954729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	26571382, 30399566, 31001663, 31538321, 37897632, 38029557, 38139322, 40282888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	11168927, 19839859, 29973660, 36835576, 40282888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	40572647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	9106533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	10466411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36598310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19342968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16509931, 25385517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19118900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	12503095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	23890189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21844226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	12138259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	22317873, 29270778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	32776440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	34545858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19401348	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	25227403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	14627715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	LHGDN	14627715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10535325, 12138259, 20358591, 22138676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22035350, 31538321, 36835576, 40282888, 40572647, 8755656, 9783702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10587573, 14566649, 21108633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29973660, 31538321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	CTD_human_DG	16631587		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	23800802, 29973660		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11274636, 21204715, 9502393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	LHGDN	18439754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15502805, 23194047, 40282888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14531904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19467152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26823795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25613757, 26823795, 35028121	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19467152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11850818, 22168360, 23230135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20597068, 21627862, 22274645, 27764784, 30405846, 30511741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25613757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18439754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21761365, 27513319, 27991925, 30096791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11371938, 16996682, 19118900, 23765687, 25132193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12970747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19048125, 19118900, 20017165, 20631067, 21627862, 21880579, 23135283, 23765687, 25130537, 30096791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30132866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23135283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11850818, 28412963, 29857823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19467152, 21876729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21876729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	11093271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Morning glory anomaly	Morning glory anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	BEFREE	11390716, 16049068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	24676634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	15785774, 29973660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11240827, 11274636, 1378753, 16436683, 16814811, 18439754, 19401348, 19525924, 21627862, 22274645, 22963903, 24203627, 26797858, 27733182, 27991925, 28873352, 30511741, 7909843 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	16509931, 25385517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11240827, 11850818, 1378753, 14531904, 16814811, 18666806, 19048125, 19342968, 19531566, 20154279, 24154691, 28426529, 29357419, 7856737, 7909843, 8178926 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	12138259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis 1	Nephronophthisis	BEFREE	12138259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis, familial juvenile	Nephronophthisis	BEFREE	12138259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrotic syndrome	Pubtator	34696790, 40282888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	8188301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31001663		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31001663	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	24676634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orbital cyst	Orbital cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19525924, 21761365, 27513319, 27991925, 30096791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17529925, 19525924, 20562848, 31983104, 33828085, 35387670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	19525924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	23890189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31622355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	23219441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillorenal syndrome	Renal Coloboma Syndrome	BEFREE	10466411, 10533062, 10587573, 11093271, 11730657, 12503095, 14566649, 15808183, 16049068, 16971658, 17269592, 17541647, 18609495, 19048125, 19954729 View all (18 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Renal Coloboma Syndrome	GENOMICS_ENGLAND_DG	10533062, 22213154, 8589702, 9760197, 9916932		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Papillorenal syndrome	Pubtator	10739767, 11168927, 19839859, 21285886, 22581475, 23902562, 24676634, 26571382, 28674456, 31001663, 31538321, 32776440, 34057964, 34217267, 34285019 View all (7 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Renal Coloboma Syndrome	UNIPROT_DG	11168927, 15652857, 19954729, 22213154, 24676634, 9760197		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Renal Coloboma Syndrome	ORPHANET_DG	22213154		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Renal Coloboma Syndrome	CLINVAR_DG	22213154, 24676634, 27657687, 9760197		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillorenal syndrome	Renal Coloboma Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	10694420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	11195048, 17082250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	25854853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11371938, 16996682, 19118900, 23765687, 25132193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19118900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23765687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26571382, 40282888, 40572647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent pyelonephritis	Pyelonephritis	BEFREE	11297491		★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21380624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	18439754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11240827, 11274636, 16609680, 18439754, 20679884, 20952286, 21151099, 21880579, 23158209, 23957913, 7664285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15502805, 16609680, 18685487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	20943750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal coloboma syndrome	Renal Coloboma Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	BEFREE	16971658		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Renal dysplasia	Renal dysplasia	BEFREE	20943750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30117015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal hypoplasia, bilateral	Renal hypoplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL HYPOPLASIA, ISOLATED (disorder)	Renal hypoplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	14566649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	LHGDN	14566649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31788758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	10532715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	24771139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	14627715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	19839859, 36835576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	BEFREE	10694420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26823795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25613757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	31001663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	21836481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11241473, 19839859		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	11195048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	9783702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	20631067, 22317873, 32300484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveoretinal Coloboma	Uveoretinal Coloboma	BEFREE	12503095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	31060108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	10466411, 21731775, 24633556, 25912758, 29973660, 7795640, 9598733, 9783702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	10466411, 10739767, 24633556, 25912758, 9598733, 9783702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	19401348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	14627715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PAX2 (paired box 2)