NUP133 (nucleoporin 133)

Gene

• Entrez ID: 55746
• Gene name: Nucleoporin 133
• Gene symbol: NUP133
• Synonyms: GAMOS8, NPHS18, hNUP133
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs376476266	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1433513056	A>G,T	Pathogenic	Intron variant
rs1558091788	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558108130	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT035996	hsa-miR-1301-3p	CLASH	23622248
MIRT461348	hsa-miR-590-3p	PAR-CLIP	23592263
MIRT461347	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT461346	hsa-miR-3126-3p	PAR-CLIP	23592263
MIRT461345	hsa-miR-1298-3p	PAR-CLIP	23592263
MIRT461344	hsa-miR-1289	PAR-CLIP	23592263
MIRT461342	hsa-miR-4294	PAR-CLIP	23592263
MIRT461343	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT461341	hsa-miR-3198	PAR-CLIP	23592263
MIRT461340	hsa-miR-4309	PAR-CLIP	23592263
MIRT461339	hsa-miR-1303	PAR-CLIP	23592263
MIRT440074	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440074	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT727057	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727056	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT461348	hsa-miR-590-3p	PAR-CLIP	23592263
MIRT461347	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT461346	hsa-miR-3126-3p	PAR-CLIP	23592263
MIRT461345	hsa-miR-1298-3p	PAR-CLIP	23592263
MIRT461344	hsa-miR-1289	PAR-CLIP	23592263
MIRT461342	hsa-miR-4294	PAR-CLIP	23592263
MIRT461343	hsa-miR-516b-5p	PAR-CLIP	23592263
MIRT461341	hsa-miR-3198	PAR-CLIP	23592263
MIRT461340	hsa-miR-4309	PAR-CLIP	23592263
MIRT461339	hsa-miR-1303	PAR-CLIP	23592263
MIRT1198986	hsa-miR-3607-5p	CLIP-seq
MIRT1198987	hsa-miR-4468	CLIP-seq
MIRT1198988	hsa-miR-4666-5p	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT1198990	hsa-miR-646	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2057681	hsa-miR-142-5p	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2057687	hsa-miR-340	CLIP-seq
MIRT2057688	hsa-miR-3649	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2057690	hsa-miR-3685	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2057693	hsa-miR-4729	CLIP-seq
MIRT2057694	hsa-miR-489	CLIP-seq
MIRT2057695	hsa-miR-516a-3p	CLIP-seq
MIRT2057696	hsa-miR-545	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2057698	hsa-miR-548p	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2057700	hsa-miR-656	CLIP-seq
MIRT2057701	hsa-miR-659	CLIP-seq
MIRT2057702	hsa-miR-9	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286047	hsa-miR-376a	CLIP-seq
MIRT2286048	hsa-miR-376b	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2286052	hsa-miR-4717-3p	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057682	hsa-miR-224	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2583972	hsa-miR-325	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286047	hsa-miR-376a	CLIP-seq
MIRT2286048	hsa-miR-376b	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2583973	hsa-miR-4671-3p	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT2583974	hsa-miR-4775	CLIP-seq
MIRT2583975	hsa-miR-494	CLIP-seq
MIRT1198989	hsa-miR-516b	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2583976	hsa-miR-628-3p	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq
MIRT2286039	hsa-miR-1236	CLIP-seq
MIRT2286040	hsa-miR-125a-3p	CLIP-seq
MIRT2057678	hsa-miR-128	CLIP-seq
MIRT2057679	hsa-miR-130a	CLIP-seq
MIRT2057680	hsa-miR-130b	CLIP-seq
MIRT2286041	hsa-miR-148a	CLIP-seq
MIRT2286042	hsa-miR-148b	CLIP-seq
MIRT2286043	hsa-miR-152	CLIP-seq
MIRT2286044	hsa-miR-19a	CLIP-seq
MIRT2286045	hsa-miR-19b	CLIP-seq
MIRT2057683	hsa-miR-27a	CLIP-seq
MIRT2057684	hsa-miR-27b	CLIP-seq
MIRT2057685	hsa-miR-301a	CLIP-seq
MIRT2057686	hsa-miR-301b	CLIP-seq
MIRT2286046	hsa-miR-3148	CLIP-seq
MIRT2057689	hsa-miR-3666	CLIP-seq
MIRT2286049	hsa-miR-3934	CLIP-seq
MIRT2286050	hsa-miR-3973	CLIP-seq
MIRT2286051	hsa-miR-4276	CLIP-seq
MIRT2057691	hsa-miR-4295	CLIP-seq
MIRT2057692	hsa-miR-454	CLIP-seq
MIRT2286053	hsa-miR-4753-3p	CLIP-seq
MIRT2583975	hsa-miR-494	CLIP-seq
MIRT2286054	hsa-miR-518a-5p	CLIP-seq
MIRT2286055	hsa-miR-527	CLIP-seq
MIRT2057697	hsa-miR-548aa	CLIP-seq
MIRT2286056	hsa-miR-548l	CLIP-seq
MIRT2057699	hsa-miR-570	CLIP-seq
MIRT2286057	hsa-miR-642b	CLIP-seq
MIRT2286058	hsa-miR-764	CLIP-seq
MIRT2057703	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000777	Component	Condensed chromosome kinetochore	IDA	17098863
GO:0000940	Component	Condensed chromosome outer kinetochore	IDA	17363900
GO:0000972	Process	Transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11564755, 15146057, 17363900, 24315095, 24725412, 24947832, 26411495, 26496610, 27194810, 31046837
GO:0005635	Component	Nuclear envelope	TAS
GO:0005643	Component	Nuclear pore	IDA	11564755, 11684705, 17098863
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006406	Process	MRNA export from nucleus	IDA	11684705
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006606	Process	Protein import into nucleus	IBA	21873635
GO:0006999	Process	Nuclear pore organization	IMP	15146057
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	TAS
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IBA	21873635
GO:0017056	Function	Structural constituent of nuclear pore	IBA	21873635
GO:0017056	Function	Structural constituent of nuclear pore	IDA	11684705
GO:0019083	Process	Viral transcription	TAS
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0031080	Component	Nuclear pore outer ring	IBA	21873635
GO:0031080	Component	Nuclear pore outer ring	IDA	15146057, 17360435
GO:0031080	Component	Nuclear pore outer ring	NAS	17363900
GO:0031965	Component	Nuclear membrane	IDA
GO:0043657	Component	Host cell	IEA
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0061053	Process	Somite development	IEA
GO:0072006	Process	Nephron development	IMP	30179222
GO:0075733	Process	Intracellular transport of virus	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS

Other IDs

• MIM: 607613
• HGNC: 18016
• e!Ensembl: ENSG00000069248

Protein

• UniProt ID: Q8WUM0
• Protein name: Nuclear pore complex protein Nup133 (133 kDa nucleoporin) (Nucleoporin Nup133)
• Protein function: Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).
• PDB: 1XKS, 3CQC, 3CQG, 3I4R, 5A9Q, 7PEQ, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03177	Nucleoporin_C	594 → 1024	Non-repetitive/WGA-negative nucleoporin C-terminal	Family

• Sequence:

  MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSS
  RGTPTRMFPHHSITESVNYDVKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCK
  EKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSYSSPSGEAHSTQAVAVMVATR
  EGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSSGSQLIRLIPESSGKI
  HQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELD
  DSSEKHAYSWDINRALKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWH
  SADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLY
  NESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVS
  ILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAAFLQYCRKDLGHAQMV
  VDELFSSHSDLDSDSELDRAVTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQ
  LEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLLCEHAEKLSAAIVLKNHHSRL
  SDLVNTAILIALNKREYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIE
  WAEVVINVNNILKDMLQAASHYRQNRNSLYRREESLEKEPEYVPWTATSGPGGIRTVIIR
  QHEIVLKVAYPQADSNLRNIVTEQLVALIDCFLDGYVSQLKSVDKSSNRERYDNLEMEYL
  QKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTDNQSRLQRYMTQFADQNFSDF
  LFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANME
  TRYFAKKKTLLGLSKLAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNL
  SAMPVLTAPQLIGLYICEENRRANEYDFKKALDLLEYIDEEEDININDLKLEILCKALQR
  DNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLPEVKDLLQADQLGSLKSNPYF
  EFVLKANYEYYVQGQI

• Sequence length: 1156

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
RHO GTPases Activate Formins
tRNA processing in the nucleus
Mitotic Prometaphase
HCMV Early Events
HCMV Late Events
Postmitotic nuclear pore complex (NPC) reformation
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Galloway-mowat syndrome	Galloway Mowat syndrome, Galloway-Mowat syndrome	rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209, rs1557211410, rs1431526147, rs1432218739, rs773814837, rs1233885358, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811, rs374322839, rs773173317, rs140583554, rs1292041526, rs1569314907, rs779449710, rs1433513056, rs745342141, rs866551482, rs1282630153, rs1596050297, rs774069989	30427554
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nephrotic syndrome	Nephrotic Syndrome, NEPHROTIC SYNDROME, TYPE 18	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	30179222, 30427554
Steroid resistant nephrotic syndrome	Steroid resistant nephrotic syndrome of childhood	rs74315342, rs74315343, rs74315347, rs74315348, rs202128397, rs879255251, rs775170915, rs749740335, rs530318579, rs778055996, rs775006954, rs1291398331, rs748812981, rs1334894971, rs763782471, rs138047529, rs1196820381

Unknown
Disease name	Disease term	dbSNP ID	References
Aqueductal stenosis	Aqueductal Stenosis
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Dwarfism	Dwarfism
Focal cortical dysplasia	Focal cortical dysplasia
Genetic steroid-resistant nephrotic syndrome	Genetic steroid-resistant nephrotic syndrome
Glomerulosclerosis	Focal glomerulosclerosis
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Hiatal hernia	Hiatal Hernia
Hypoalbuminemia	Hypoalbuminemia
Impaired cognition	Impaired cognition
Macrotia	Macrotia
Micrognathism	Micrognathism
Nephritis	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE		30179222
Pachygyria	Pachygyria
Strabismus	Strabismus