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

703

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anomaly of kidney and urinary tract	Pathogenic	rs75462234	RCV001328165
Congenital ocular coloboma	Pathogenic	rs2492900348	RCV002291342
Focal segmental glomerulosclerosis	Likely pathogenic; Pathogenic	rs2133836347, rs1845411121, rs75462234	RCV001849674 RCV001849675 RCV001849315
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 RCV005225461 RCV001807962 RCV001807981 RCV001910668 RCV001976574 RCV002044807 RCV000144050 RCV001813758 RCV000587907 RCV002251202 RCV003074946 RCV005032292 RCV002593113 RCV002662664 RCV002847567 RCV002863053 RCV002858606 RCV002876762 RCV002999881 RCV003027543 RCV003044305 RCV003130906 RCV004577583 RCV004577591 RCV004577597 RCV004577603 RCV004577609 RCV003484558 RCV001377629 RCV002504787 RCV003813044 RCV003813113 RCV002489149 RCV000549890 RCV005223120 RCV002290036 RCV001029782 RCV001037111 RCV001169839 RCV002499441
Glomerular sclerosis	Pathogenic	rs75462234	RCV004798785
Nephrotic syndrome	Likely pathogenic	rs1054215531	RCV001328164
Papillorenal syndrome with macular abnormalities	Pathogenic	rs104894170	RCV000014816
PAX2-related disorder	Pathogenic; Likely pathogenic	rs1217241110, rs922533851, rs76492282, rs75462234, rs2133833987, rs2492893048, rs2493149679, rs139724326, rs79555199	RCV004531187 RCV001733843 RCV005867925 RCV004532628 RCV004531572 RCV004529287 RCV003389233 RCV004531959 RCV004527736 RCV004738005
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 RCV002503302 RCV001808303 RCV005414340 RCV001910668 RCV001976574 RCV002044807 RCV002498654 RCV000014815 RCV000014806 RCV002250171 RCV002251091 RCV002283783 RCV003074946 RCV005032292 RCV002593113 RCV002662664 RCV002847567 RCV002863053 RCV002858606 RCV002876762 RCV002999881 RCV003027543 RCV003044305 RCV003314477 RCV003388805 RCV000014805 RCV000014808 RCV000014810 RCV000014811 RCV000014812 RCV000014813 RCV000014814 RCV003813044 RCV003813113 RCV003988782 RCV003989936 RCV003991814 RCV004555326 RCV004556908 RCV002489149 RCV000549890 RCV005414330 RCV005223120 RCV000786943 RCV003388597 RCV001391111 RCV001037111 RCV001169839 RCV001281302 RCV001281257 RCV001281258 RCV001281256 RCV001281259
Renal cyst	Likely pathogenic	rs1057518761	RCV000415347
Renal hypoplasia	Likely pathogenic	rs2133897844	RCV001807653
See cases	Likely pathogenic	rs79555199	RCV003325974
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs2133836347, rs1845411121, rs75462234	RCV001849674 RCV001849675 RCV001849315

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Renal cysts and diabetes syndrome	Uncertain significance	rs781489326	RCV000416568
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs370214925, rs756570535, rs78738655, rs1848500533	RCV004815378 RCV004816936 RCV000504921 RCV001073551
Uterine corpus endometrial carcinoma	Benign	rs56283258	RCV005922035

Show/Hide Text Mining Associations (95)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	12200552, 16400326
Adenoma Oxyphilic	Associate	15502805, 24771139
Adenoma Pleomorphic	Associate	24771139
Alcohol Related Disorders	Associate	31060108, 34696790, 36835576, 40282888
Breast Neoplasms	Associate	19005469, 22168360, 24203627, 28412963, 32843722
Cakut	Associate	23539225, 24429398, 24676634, 26489027, 27657687, 32203225, 34696790, 36835576
Carcinogenesis	Associate	14627715, 20562848, 20597068, 20631067, 23890189, 27764784, 29270778
Carcinoma Acinar Cell	Associate	24771139
Carcinoma Hepatocellular	Associate	35028121
Carcinoma in Situ	Associate	20562848
Carcinoma Non Small Cell Lung	Associate	26823795, 31522607
Carcinoma Pancreatic Ductal	Associate	31622355
Carcinoma Papillary	Inhibit	22766790
Carcinoma Renal Cell	Associate	11240827, 15502805, 19401348, 20670131, 20679884, 21151099, 22495365, 23194047, 23890189, 26527083, 36510186, 37511191
Carcinoma Small Cell	Associate	26823795
Carcinoma Transitional Cell	Associate	11240827
Central Nervous System Neoplasms	Associate	34417833
Clear cell metastatic renal cell carcinoma	Associate	20670131
Coloboma	Associate	21380624, 26571382
Coloboma of optic nerve	Associate	9598733
Colonic Neoplasms	Associate	19467152, 20670131
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	36918055
Daneman Davy Mancer syndrome	Associate	23539225
Diabetes Mellitus	Associate	21380624
Endodermal Sinus Tumor	Stimulate	22495365
Endometrial Hyperplasia	Inhibit	20597068
Endometrial Hyperplasia	Associate	22317873
Endometrial Neoplasms	Associate	27764784, 35018885
Endometrial Stromal Tumors	Associate	30340515
Endometriosis	Associate	35387670
Esophageal Neoplasms	Associate	25613757
Esophageal Squamous Cell Carcinoma	Associate	25613757
Eye Abnormalities	Associate	11168927, 20359920, 31060108, 36835576
Eye Diseases	Associate	36490268
Fallopian Tube Diseases	Associate	20597068
Glioblastoma	Associate	36980184
Glomerulosclerosis Focal Segmental	Associate	26571382, 30399566, 31001663, 31538321, 37897632, 38029557, 38139322, 40282888
Glycosuria Renal	Associate	11168927, 19839859, 29973660, 36835576, 40282888
Hearing Disorders	Associate	40572647
Hearing Loss	Associate	9106533
Heart Diseases	Associate	36598310
Hemangioblastoma	Associate	24040464, 25973115, 36510186
Hereditary Breast and Ovarian Cancer Syndrome	Associate	19118900
Hereditary renal agenesis	Associate	21380624, 29973660, 40572647
Hyperplasia	Associate	22317873, 29270778
Hyperuricemia	Associate	32776440
Hypokalemia Familial	Associate	32776440
Hypotrichosis	Associate	34545858
Hypoxia	Stimulate	19401348
Jensen syndrome	Associate	19839859
Kidney Cortex Necrosis	Associate	11073823
Kidney Diseases	Associate	22035350, 31538321, 36835576, 40282888, 40572647, 8755656, 9783702
Kidney Failure Chronic	Associate	29973660, 31538321
Kidney Neoplasms	Associate	15502805, 23194047, 40282888
Leukemia	Associate	19467152
Leukemia B Cell	Associate	19467152
Lung Neoplasms	Associate	26823795
Lymphatic Metastasis	Stimulate	25613757, 26823795, 35028121
Lymphoma	Associate	19467152
Melanoma	Associate	19467152, 21876729
Mullerian aplasia	Associate	20562848, 20949455, 27722936
Muscular Dystrophy Congenital Megaconial Type	Associate	32776440
Nail Patella Syndrome	Associate	29973660
Neoplasm Metastasis	Associate	24771139
Neoplasm Metastasis	Stimulate	25613757
Neoplasms	Associate	12697057, 19005469, 19118900, 19467152, 20631067, 20971497, 22080059, 22766793, 24771139, 28412963, 30340515, 32843722, 33828085, 35796805
Neoplasms Cystic Mucinous and Serous	Associate	20597068, 22089527
Neoplasms Germ Cell and Embryonal	Associate	22495365
Nephritis Hereditary	Associate	37897632
Nephroblastomatosis fetal ascites macrosomia and Wilms tumor	Associate	25871299
Nephrosis	Associate	34696790, 40282888
Nephrotic Syndrome	Associate	31001663
Oligohydramnios	Associate	38139322
Optic Nerve Diseases	Associate	11168927, 40282888
Optic Nerve Hypoplasia	Associate	32776440, 36835576
Ovarian Neoplasms	Associate	17529925, 19525924, 20562848, 31983104, 33828085, 35387670
Pain	Associate	33530940
Papillorenal syndrome	Associate	10739767, 11168927, 19839859, 21285886, 22581475, 23902562, 24676634, 26571382, 28674456, 31001663, 31538321, 32776440, 34057964, 34217267, 34285019 View all (7 more)
Pelvic Neoplasms	Associate	22080059
Pneumonia	Associate	26823795
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	14531904
Prostatic Neoplasms	Associate	19118900
Proteinuria	Associate	26571382, 40282888, 40572647
Renal Insufficiency Chronic	Associate	29973660, 40282888
Retinitis	Associate	11168927
Salivary Gland Neoplasms	Associate	24771139
Sarcoma Kaposi	Associate	14627715
Senior Loken Syndrome	Associate	19839859, 36835576
Small Cell Lung Carcinoma	Associate	26823795
Tufted angioma	Inhibit	22766790
Urologic Diseases	Associate	21380624
Uterine Diseases	Associate	20631067, 22317873, 32300484
Vesico Ureteral Reflux	Associate	29973660, 9598733, 9783702
von Hippel Lindau Disease	Inhibit	19401348
Xeroderma Pigmentosum	Associate	14627715

PAX2 (paired box 2)