PAX2 (paired box 2)

Gene

• Entrez ID: 5076
• Gene name: Paired box 2
• Gene symbol: PAX2
• Synonyms: FSGS7, PAPRS, PAX-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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
WT1	Repression	9738017;9916932

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	9178767, 16368682, 16735463, 19048125
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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	ISS
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:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007409	Process	Axonogenesis	TAS	9106533
GO:0007501	Process	Mesodermal cell fate specification	ISS
GO:0007568	Process	Aging	IEA
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:0031667	Process	Response to nutrient levels	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:0043154	Process	Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	10980123, 17357786
GO:0043491	Process	Protein kinase B signaling	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	19118900
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16368682, 17357786, 19048125, 24676634
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	11940591
GO:0045893	Process	Positive regulation of transcription, DNA-templated	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:0048793	Process	Pronephros development	ISS
GO:0048854	Process	Brain morphogenesis	ISS
GO:0048856	Process	Anatomical structure development	IBA	21873635
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:0070301	Process	Cellular response to hydrogen peroxide	ISS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0071333	Process	Cellular response to glucose stimulus	ISS
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
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:0072593	Process	Reactive oxygen species metabolic process	ISS
GO:0090102	Process	Cochlea development	ISS
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0090190	Process	Positive regulation of branching involved in ureteric bud 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

Other IDs

• MIM: 167409
• HGNC: 8616
• e!Ensembl: ENSG00000075891

Protein

• UniProt ID: 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

• Sequence:

  MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRV
  SHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLA
  EGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTAPGHTIVPSTASPPVSSASND
  PVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGGGGLHLVWTLRDVSEGSVPNGDS
  QSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPGL
  DEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTSTLAG
  MVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH

• Sequence length: 417

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Focal segmental glomerulosclerosis	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818	24676634, 26571382, 9916932
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	24676634
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Renal coloboma syndrome	Papillorenal syndrome, Renal coloboma syndrome	rs77777862, rs76675173, rs79555199, rs387906530, rs75462234, rs78122364, rs104894170, rs76492282, rs75399846, rs1589813539, rs759356936	22213154, 24676634, 10533062, 9760197, 19954729, 8589702, 15652857, 27657687, 11168927, 9916932
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	rs387907123
Renal insufficiency	Renal Insufficiency	rs1596536873
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease name	Disease term	dbSNP ID	References
Allanson pantzar mcleod syndrome	Allanson Pantzar McLeod syndrome		27657687
Arnold-chiari malformation	Arnold-Chiari Malformation, Type I
Bilateral renal hypoplasia	Bilateral renal hypoplasia		22138676, 23539225, 11461952, 17513325
Cardiovascular diseases	Cardiovascular Diseases		30595370
Chorioretinal atrophy	Chorioretinal atrophy
Coloboma of optic disc	Coloboma of optic disc		26571382
Endometrioma	Endometrioma		22473392
Endometriosis	Endometriosis	rs1800629, rs1143634	22473392
Female urogenital diseases	Female Urogenital Diseases		16002989
Fundus coloboma	Fundus coloboma
Genetic steroid-resistant nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome
Glomerular hyalinosis	Hyalinosis, Segmental Glomerular
Glomerulosclerosis	Focal glomerulosclerosis
Kidney failure	Kidney Failure, Chronic		16631587
Morning glory anomaly	Morning glory anomaly
Multicystic renal dysplasia	Multicystic Dysplastic Kidney
Nephritis	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE		24676634
Orbital cyst	Orbital cyst
Renal glomerular disease	Renal glomerular disease
Renal hypoplasia	Congenital hypoplasia of kidney, Renal hypoplasia, bilateral, RENAL HYPOPLASIA, ISOLATED (disorder)	rs561111097
Retinal coloboma	Coloboma of the Retina
Strabismus	Strabismus