INVS (inversin)

Gene

• Entrez ID: 27130
• Gene name: Inversin
• Gene symbol: INVS
• Synonyms (NCBI Gene): INV, NPH2, NPHP2
• Disease Acronyms (UniProt): NPHP2
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocyst

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1052867	T>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs114056499	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs115042730	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs115754570	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs115937161	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs116314059	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs116606949	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs116686341	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs121964994	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121964995	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140255233	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs146901872	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs147041710	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs147112151	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149315279	C>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs150001738	A>G,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs200546215	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200844390	C>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs267607185	C>A,G,T	Benign, pathogenic	Synonymous variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs375416014	G>A	Likely-pathogenic	Splice donor variant
rs375753623	G>A,T	Uncertain-significance, pathogenic	Splice donor variant
rs376879175	C>A,T	Uncertain-significance, pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs751765105	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs753348470	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs755288504	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs755549444	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs769739938	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs878855332	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878855333	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs955421639	G>A	Likely-pathogenic	Splice donor variant
rs1322951938	T>C,G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1425211517	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1564123602	->CAGA	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564193130	AT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1588153872	->C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT531898	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	23313552
MIRT531896	hsa-miR-190b	HITS-CLIP	23313552
MIRT531895	hsa-miR-92b-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23313552
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23313552
MIRT531892	hsa-miR-3689e	HITS-CLIP	23313552
MIRT531891	hsa-miR-3689f	HITS-CLIP	23313552
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT531892	hsa-miR-3689e	HITS-CLIP	23824327
MIRT531891	hsa-miR-3689f	HITS-CLIP	23824327
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT609044	hsa-miR-3161	HITS-CLIP	23824327
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	24906430
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	24906430
MIRT531892	hsa-miR-3689e	HITS-CLIP	24906430
MIRT531891	hsa-miR-3689f	HITS-CLIP	24906430
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT609044	hsa-miR-3161	HITS-CLIP	24906430
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	24906430
MIRT531889	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT531898	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	PAR-CLIP	22012620
MIRT531896	hsa-miR-190b	PAR-CLIP	22012620
MIRT531895	hsa-miR-92b-5p	PAR-CLIP	22012620
MIRT531894	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531893	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531892	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531891	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531890	hsa-miR-4648	PAR-CLIP	22012620
MIRT531888	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT531889	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT531896	hsa-miR-190b	HITS-CLIP	27418678
MIRT609044	hsa-miR-3161	HITS-CLIP	27418678
MIRT609044	hsa-miR-3161	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531892	hsa-miR-3689e	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531891	hsa-miR-3689f	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT531889	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT531898	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT531897	hsa-miR-190a-5p	HITS-CLIP	23313552
MIRT531896	hsa-miR-190b	HITS-CLIP	23313552
MIRT531895	hsa-miR-92b-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23313552
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23313552
MIRT531892	hsa-miR-3689e	HITS-CLIP	23313552
MIRT531891	hsa-miR-3689f	HITS-CLIP	23313552
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT531894	hsa-miR-3689a-5p	HITS-CLIP	23824327
MIRT531893	hsa-miR-3689b-5p	HITS-CLIP	23824327
MIRT531892	hsa-miR-3689e	HITS-CLIP	23824327
MIRT531891	hsa-miR-3689f	HITS-CLIP	23824327
MIRT531888	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT609044	hsa-miR-3161	HITS-CLIP	23824327
MIRT609045	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT531889	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT531898	hsa-miR-511-3p	PAR-CLIP	22012620
MIRT531897	hsa-miR-190a-5p	PAR-CLIP	22012620
MIRT531896	hsa-miR-190b	PAR-CLIP	22012620
MIRT531895	hsa-miR-92b-5p	PAR-CLIP	22012620
MIRT531894	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531893	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531892	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531891	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531890	hsa-miR-4648	PAR-CLIP	22012620
MIRT531888	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT531889	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT1068277	hsa-miR-3125	CLIP-seq
MIRT1068278	hsa-miR-3174	CLIP-seq
MIRT1068279	hsa-miR-33a	CLIP-seq
MIRT1068280	hsa-miR-33b	CLIP-seq
MIRT1068281	hsa-miR-3916	CLIP-seq
MIRT1068282	hsa-miR-4476	CLIP-seq
MIRT1068283	hsa-miR-4684-3p	CLIP-seq
MIRT1068284	hsa-miR-4691-5p	CLIP-seq
MIRT1068285	hsa-miR-4755-3p	CLIP-seq
MIRT1068286	hsa-miR-921	CLIP-seq
MIRT1068287	hsa-miR-3660	CLIP-seq
MIRT1068288	hsa-miR-4256	CLIP-seq
MIRT1068289	hsa-miR-4261	CLIP-seq
MIRT1068290	hsa-miR-4526	CLIP-seq
MIRT1068291	hsa-miR-494	CLIP-seq
MIRT1068292	hsa-miR-543	CLIP-seq
MIRT2016633	hsa-miR-510	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18371931, 21565611, 21602787
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0007275	Process	Multicellular organism development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18371931
GO:0097543	Component	Ciliary inversin compartment	IBA	21873635
GO:1904108	Process	Protein localization to ciliary inversin compartment	IBA	21873635

Other IDs

• MIM: 243305
• HGNC: 17870
• e!Ensembl: ENSG00000119509

Protein

• UniProt ID: Q9Y283
• Protein name: Inversin (Inversion of embryo turning homolog) (Nephrocystin-2)
• Protein function: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradati
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	18 → 111	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	85 → 179	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	173 → 252	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	246 → 317	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	311 → 387	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	394 → 486	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	460 → 554	Ankyrin repeats (3 copies)	Repeat
  PF00612	IQ	557 → 576	IQ calmodulin-binding motif	Motif
  PF00612	IQ	917 → 937	IQ calmodulin-binding motif	Motif

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Strongly expressed in the primary cilia of renal tubular cells. {ECO:0000269|PubMed:11935322, ECO:0000269|PubMed:12872123}.
• Sequence:

  MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADR
  LDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHL
  TTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDV
  EGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQDYEGRTPLHFAVADGNVTVVDVL
  TSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSN
  FAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTA
  LHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
  QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNA
  DPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVI
  QFMLEHGALSIAAIQDIAAFKIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEE
  NKRKEAEQQKGRRSPDSCRPQALPCLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRG
  SPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVP
  SVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRH
  DTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL
  TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRL
  QIIQRERRRKELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTAL
  LLQVWRKELELKFPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSV
  KASSVLRLNSVSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP

• Sequence length: 1065

Pathways

KEGG:

Wnt signaling pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
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
Hypertension	Hypertensive disease	rs13306026
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephronophthisis	Nephronophthisis, NEPHRONOPHTHISIS 2, Infantile nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	21866095, 12872123, 23559409, 20798123, 18076122, 19177160
Renal dysplasia and retinal aplasia	Renal dysplasia and retinal aplasia (disorder)	rs121918244, rs387906980, rs753627675, rs866982675, rs1573920009, rs1576559094	12872123, 16522655, 22819833
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803, rs121908282, rs549625604, rs137852837, rs281865192, rs80044281, rs75895925, rs121918244, rs750962965, rs104893678, rs104893680, rs28940313, rs386834261, rs28940314, rs104894471, rs104894474, rs104894475, rs28940315, rs121434337, rs202126574, rs111033578, rs119103283, rs199476183, rs267607017, rs80338903, rs111033367, rs121912599, rs80338902, rs111033364, rs121912600, rs121909398, rs119103286, rs587777809, rs606231137, rs28940274, rs28941468, rs28941469, rs121918283, rs28940276, rs28940570, rs28940278, rs281865528, rs121918284, rs121918286, rs121918288, rs121918289, rs80100937, rs119466001, rs121434241, rs121434242, rs121434236, rs121434238, rs121907899, rs267606876, rs267606875, rs121434286, rs387906312, rs587776590, rs111033258, rs587776595, rs587776596, rs1362648752, rs74315205, rs121908175, rs121908177, rs121908178, rs138043021, rs121908180, rs111033270, rs1131690770, rs28937883, rs80356530, rs121908375, rs1480243085, rs397515359, rs267606739, rs397515360, rs74315396, rs730880273, rs119489105, rs371956016, rs104894492, rs104894493, rs28937873, rs121912631, rs62637014, rs137853005, rs137853006, rs62635656, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs62638214, rs62638624, rs104894082, rs869320726, rs80358322, rs80358312, rs28939709, rs72664233, rs796051866, rs121918358, rs141659620, rs111033570, rs121909074, rs121909076, rs1581742970, rs104894672, rs61748436, rs104894673, rs2123743692, rs61750415, rs201578674, rs61751408, rs61749438, rs61750061, rs61750064, rs61751374, rs61748548, rs61750200, rs121909205, rs61750130, rs61752410, rs387906387, rs61751383, rs121909206, rs61753033, rs267607077, rs62638191, rs62638193, rs111033593, rs104894374, rs121434491, rs796051871, rs397515379, rs121917851, rs104893967, rs121434631, rs61750172, rs61750173, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs199476104, rs199476112, rs61752063, rs61752067, rs104894928, rs104894933, rs104894930, rs61752068, rs62638634, rs606231180, rs606231181, rs28933687, rs104894927, rs104894878, rs104894880, rs132630264, rs587776746, rs132630266, rs122456134, rs28934610, rs104895317, rs113624356, rs137853300, rs587776778, rs777094000, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs104893780, rs104893787, rs104893783, rs104893786, rs104893782, rs104893790, rs104893791, rs104893793, rs104893794, rs104893795, rs137853290, rs28933990, rs137853291, rs121918579, rs730880317, rs121918581, rs61752895, rs61752871, rs121917745, rs61755806, rs121918563, rs61755793, rs61755792, rs61748429, rs61755816, rs61755798, rs121918565, rs61755769, rs61755786, rs61755771, rs121918567, rs61755783, rs121912550, rs121912552, rs62625014, rs121912884, rs80356555, rs121434542, rs80359870, rs193302848, rs193302849, rs387906646, rs121909835, rs61749433, rs61751399, rs387906836, rs387906837, rs374390376, rs786200928, rs201391050, rs373909351, rs140287375, rs148374859, rs483352908, rs140511594, rs387907136, rs770066665, rs376586707, rs387907268, rs142968179, rs150726175, rs387907294, rs200311463, rs149648640, rs747425652, rs387907314, rs199476198, rs199476187, rs199476189, rs199476190, rs207482233, rs199476197, rs62645748, rs786205121, rs140256288, rs201153410, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033182, rs111033276, rs397516317, rs111033215, rs397516323, rs111033192, rs397516326, rs111033486, rs111033284, rs111033285, rs367928692, rs370983472, rs371981035, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs397517973, rs397517976, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033417, rs397517990, rs397517994, rs111033273, rs397518011, rs397518014, rs375668376, rs397518021, rs397518022, rs111033386, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518048, rs73090721, rs111033263, rs386833612, rs386833697, rs386833728, rs386833749, rs386834148, rs386834153, rs786200944, rs398122391, rs386834239, rs199469697, rs267598278, rs267601099, rs398122960, rs398122525, rs398122991, rs369037463, rs61750120, rs61752435, rs1800728, rs398123339, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs431905521, rs104895298, rs104895316, rs61749679, rs61750161, rs61750168, rs61750183, rs61750185, rs61749669, rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs281865372, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814, rs61755815, rs62645935, rs61755766, rs281865373, rs61748430, rs61748433, rs281865301, rs62635001, rs62635002, rs62653029, rs62635009, rs62638627, rs62638626, rs62638642, rs281865297, rs62638648, rs62650218, rs62640583, rs62640592, rs281865295, rs61751276, rs61751281, rs62636295, rs62636299, rs61752873, rs281865285, rs62642584, rs61752877, rs62642582, rs61751279, rs61752906, rs62645885, rs62645889, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs62645879, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753170, rs61753171, rs61753174, rs281865352, rs281865354, rs281865355, rs281865356, rs281865357, rs281865358, rs281865359, rs281865361, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs61748547, rs63749083, rs62642569, rs61748550, rs61751410, rs61752391, rs61748552, rs61748523, rs61748556, rs150774447, rs61748558, rs61748559, rs61751385, rs61751393, rs55732384, rs61749409, rs61749410, rs61749412, rs61751394, rs61749414, rs61749415, rs61749418, rs61752401, rs61751263, rs62654395, rs61749420, rs201738997, rs61749422, rs62654397, rs61749423, rs61749425, rs61751412, rs61748526, rs61749428, rs61751395, rs61750202, rs61749436, rs61752406, rs61749444, rs61749446, rs61748529, rs61749448, rs61749449, rs61749450, rs61749451, rs61749453, rs61752411, rs62645948, rs61748530, rs61751413, rs61749456, rs61751262, rs61749459, rs61751397, rs61750062, rs61752415, rs61750065, rs61748531, rs61751398, rs61752416, rs61752417, rs62645946, rs61752419, rs61750121, rs1801269, rs61752421, rs61752423, rs61752425, rs281865514, rs61751400, rs61752427, rs61752428, rs62642573, rs61750137, rs61750139, rs61754044, rs61750138, rs61750140, rs61750141, rs61750142, rs61752434, rs61750145, rs61750146, rs61750147, rs61751402, rs281865377, rs62646861, rs61750152, rs62642574, rs62645957, rs61750153, rs61750155, rs61752438, rs61752439, rs61751403, rs61750562, rs62646872, rs61750564, rs61753021, rs61750566, rs61750567, rs61751377, rs61751405, rs61750569, rs61753028, rs61750571, rs61750573, rs61751406, rs61750574, rs61753029, rs61753030, rs62642562, rs62642576, rs61750633, rs62642579, rs61748534, rs61751407, rs61753032, rs61751389, rs61753036, rs61750639, rs61753037, rs61748517, rs61750641, rs61750643, rs61753038, rs61750644, rs61750645, rs281865382, rs61750648, rs62642565, rs61750649, rs61748520, rs61750651, rs61753043, rs61750652, rs61750653, rs61750654, rs61751384, rs63749058, rs61748538, rs61751409, rs61753045, rs61753046, rs63749055, rs61750659, rs62645958, rs62646864, rs62645944, rs61748545, rs61751418, rs62636512, rs281865516, rs62636511, rs281865168, rs281865171, rs281865529, rs281865204, rs281865221, rs281865224, rs281865206, rs281865227, rs281865228, rs281865230, rs281865209, rs281865236, rs200277476, rs281865238, rs281865239, rs281865244, rs281865246, rs281865247, rs137853905, rs281865213, rs281865214, rs281865215, rs281865216, rs281865250, rs281865253, rs281865255, rs1805143, rs281865257, rs281865258, rs281865218, rs1805144, rs281865259, rs281865261, rs281865262, rs281865265, rs281865269, rs281865271, rs281865277, rs62637025, rs281865194, rs62640580, rs62640570, rs62636266, rs62636271, rs62636273, rs62636276, rs281865174, rs62645752, rs137853907, rs137853923, rs377177061, rs202210819, rs587777377, rs199882533, rs587777599, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs527236129, rs148460146, rs527236048, rs527236101, rs527236100, rs527236062, rs527236056, rs527236092, rs527236065, rs527236068, rs527236069, rs527236066, rs527236076, rs527236067, rs527236082, rs372989281, rs527236116, rs201493928, rs527236105, rs527236083, rs527236113, rs527236086, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236123, rs55958016, rs587777694, rs587783009, rs587783017, rs713993049, rs727504551, rs727505116, rs727503731, rs146733615, rs727503715, rs727505343, rs727503723, rs376764423, rs727504075, rs782252317, rs797044513, rs797044516, rs150232843, rs730882143, rs730882261, rs142422525, rs746523071, rs786204428, rs61750423, rs372006750, rs786204762, rs373862340, rs773372519, rs786204444, rs786204701, rs786204761, rs750228923, rs749909863, rs786205148, rs748902766, rs786205445, rs2723341, rs786205493, rs368098126, rs786205579, rs786205626, rs786205652, rs750542962, rs863223339, rs779007169, rs201422368, rs786205664, rs786205663, rs746559651, rs786205665, rs786205662, rs786205661, rs794726979, rs794727001, rs794727006, rs794727120, rs794727139, rs794727197, rs797044676, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs377311148, rs794727631, rs794727640, rs201657446, rs372347027, rs758329611, rs797044761, rs148660051, rs779791079, rs753330544, rs796065331, rs199946797, rs794729650, rs373273223, rs781192528, rs534542684, rs386833744, rs886041039, rs746174328, rs797045089, rs752683070, rs774122562, rs376306240, rs368049814, rs797045228, rs770558150, rs772624348, rs200692438, rs772136379, rs863224941, rs759781200, rs771214648, rs370483961, rs869025207, rs777668842, rs753874898, rs371525247, rs749439750, rs780624853, rs727503855, rs863225212, rs201541131, rs80358295, rs80358284, rs869312182, rs869312180, rs869312186, rs869312184, rs869312188, rs869312183, rs869312181, rs869312187, rs869312185, rs200460601, rs768933093, rs879255593, rs869320709, rs749012133, rs762951570, rs869320785, rs760225886, rs766590491, rs876657731, rs397517963, rs876657718, rs876661298, rs775177930, rs886044764, rs886044761, rs886044759, rs886044758, rs752147871, rs886044756, rs142253670, rs886044754, rs886044753, rs886044752, rs760549861, rs886044750, rs886044749, rs886044747, rs886044732, rs886044746, rs759672616, rs886044745, rs568792949, rs886044742, rs200967229, rs886044741, rs886044740, rs746541266, rs886044738, rs886044737, rs886044736, rs768278935, rs1047376, rs756840095, rs886044731, rs886044735, rs201471607, rs61749441, rs746566873, rs61749427, rs766570903, rs886044730, rs61752398, rs886044728, rs886044727, rs886044726, rs886044725, rs765707028, rs61752390, rs886044722, rs886044721, rs886044720, rs886044719, rs778908435, rs878853366, rs878853364, rs767648174, rs878853371, rs878853367, rs878853369, rs746837034, rs368675850, rs878853407, rs878853413, rs878853414, rs878853411, rs878853405, rs758705873, rs878853404, rs878853408, rs765293412, rs878853410, rs878853372, rs878853397, rs878853396, rs878853355, rs878853354, rs878853353, rs750151209, rs201186440, rs761440783, rs757470958, rs878853359, rs878853357, rs878853358, rs768660614, rs878853379, rs878853352, rs878853351, rs878853400, rs762078182, rs372513650, rs199584830, rs878853348, rs878853350, rs878853349, rs143994166, rs878853382, rs746359399, rs557432569, rs769156393, rs878853327, rs878853329, rs878853328, rs878853326, rs751788879, rs878853337, rs878853347, rs878853378, rs878853376, rs781112960, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878853392, rs878853391, rs878853390, rs577932201, rs878853389, rs878853341, rs878853338, rs878853339, rs878853385, rs377031435, rs760430056, rs878853394, rs878853387, rs878853342, rs878853383, rs878853331, rs878853335, rs878853334, rs868538598, rs878853374, rs878853381, rs867451420, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs757557272, rs552069173, rs139027297, rs765998048, rs886039311, rs748810737, rs886039867, rs748706582, rs886041040, rs886041502, rs886041951, rs748394238, rs886041233, rs367877017, rs886041141, rs780225183, rs886041142, rs769035379, rs753353134, rs886041176, rs886041179, rs886041177, rs886041376, rs886041178, rs758109813, rs760165634, rs750396156, rs749526785, rs371777049, rs886043023, rs776256380, rs773539640, rs776740276, rs575453437, rs201855602, rs886044148, rs886044302, rs770748359, rs753018563, rs779426136, rs200094982, rs141563823, rs770218590, rs752953889, rs886063161, rs199877211, rs749199721, rs1057517533, rs536593247, rs758921360, rs1057517251, rs1057516451, rs376894444, rs746875134, rs147030232, rs1057517692, rs1057517844, rs374536346, rs116471343, rs865990202, rs61752902, rs387906385, rs1057517869, rs1057517700, rs543698823, rs752179149, rs1057517857, rs1057517982, rs62645894, rs1057517715, rs1057518922, rs1057518955, rs775796581, rs1057518793, rs368088025, rs1057519165, rs1057519193, rs556788423, rs1057519342, rs1057520152, rs759898765, rs397517979, rs199840367, rs61750638, rs779466403, rs760790294, rs1057520213, rs371489809, rs1057521112, rs763797356, rs1057521475, rs766246531, rs1060499783, rs747656448, rs745340459, rs1166022838, rs775950661, rs375413604, rs1064793289, rs200712760, rs137954284, rs1064793014, rs762150575, rs141823837, rs1064793006, rs769317780, rs559155109, rs753925314, rs769671323, rs199740930, rs1064794848, rs771898125, rs775283269, rs1064794012, rs763762899, rs139842473, rs777849213, rs112005636, rs1064797133, rs1064797134, rs770011113, rs1064797247, rs777497868, rs773065850, rs1064797365, 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rs2073970450, rs2074043162, rs2064852005, rs759131391, rs2067513100, rs775124094, rs890128759, rs2088652401, rs1300228825, rs2089115544, rs752395624, rs756223600, rs1925733148, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs2067114709, rs2067117239, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs1569235999, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169164, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067175855, rs2067176160, rs2067176379, rs1373833359, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs2067196140, rs2067201139, rs2067217398, rs2067217662, rs2067217874, rs2067218363, rs2067267431, rs2067277129, rs2067406342, rs2067449854, rs2067451355, rs62642057, rs2067700774, rs2067877357, rs2067878321, rs2067878443, rs2067976665, rs2067985696, rs2064376489, rs2064378728, rs1924521211, rs1924895234, rs1924896735, rs1924897230, rs1924901288, rs1924904407, rs1925035229, rs2065644808, rs2065701414, rs2065717735, rs2065740868, rs2065833366, rs2065833777, rs1244003380, rs1926202704, rs1926208067, rs1926208868, rs1929999634, rs1930006988, rs1930414140, rs1930421028, rs1930424797, rs1930435879, rs1930445401, rs1934694621, rs762837543, rs1927017073, rs1649583816, rs1292874452, rs1654722914, rs760287363, rs1664686689, rs1665282720, rs1235430504, rs1371160062, rs1661818720, rs2031604509, rs1558244152, rs2034951427, rs2037617658, rs912980910, rs2037658254, rs756111113, rs1658918693, rs759513613, rs61750156, rs1659914923, rs751319688, rs1659997092, rs1168144507, rs544428779, rs1662599697, rs1677289241, rs1687854945, rs1005130980, rs1334444660, rs1560664459, rs1577845276, rs1722845773, rs1472802723, rs898144119, rs1383907349, rs781616522, rs369896113, rs1753232409, rs1751572548, rs769286352, rs1761904690, rs1768621810, rs1769469813, rs1826145876, rs1951414426, rs1402893508, rs764824311, rs1865145294, rs769524849, rs1280991447, rs762805265, rs1841921374, rs547198427, rs2058440863, rs1941247515, rs1941898895, rs1856202628, rs1856699646, rs1956849074, rs1957972028, rs1939312423, rs1399741348, rs752197734, rs2035880971, rs2038012556, rs760391688, rs2054201689, rs2065735740, rs748523056, rs2034739931, rs1961362638, rs2073798309, rs2073871791, rs2073961843, rs2073971858, rs752137434, rs2035758739, rs1928365871, rs1928241490, rs2067453631, rs1924915809, rs1925389524, rs782557600, rs2065753439, rs1924181543, rs1930090887, rs1603263147, rs1931625021, rs1934693393, rs748680704, rs765070399, rs765676754, rs1366609497, rs1657036615, rs1467000353, rs1667513233, rs1167380267, rs2084786704, rs1295259849, rs1819778622, rs374517178, rs368984997, rs2040644756, rs775073228, rs148045000, rs2067140574, rs2067148119, rs2067179633, rs2067190976, rs2067200470, rs2067498092, rs1924193863
Senior-loken syndrome	Senior-Loken syndrome	rs397515335, rs387906218, rs397515336, rs397515337, rs2137713030, rs121918244, rs750962965, rs1156803164, rs1474058708, rs121918245, rs137852922, rs137852923, rs387906980, rs786200929, rs373909351, rs387907009, rs398123538, rs62638179, rs587777348, rs587777351, rs79436363, rs587777352, rs587783011, rs727503968, rs727503969, rs786204852, rs374400438, rs794727964, rs797045946, rs797045947, rs797045948, rs771454167, rs886037896, rs765903345, rs886037897, rs886037898, rs886037899, rs886039814, rs886041912, rs201405662, rs745340459, rs866982675, rs1189889920, rs370210428, rs1280238814, rs1390963789, rs748174246, rs779696701, rs745954112, rs1949141890

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Senior-Loken Syndrome	Senior-Loken syndrome			GenCC
Preeclampsia	Preeclampsia			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Biliary Atresia	Associate	34750413
Carcinoma Non Small Cell Lung	Associate	28618971
Carcinoma Renal Cell	Associate	39596188
Ciliopathies	Associate	21068128, 23559409
Colorectal Neoplasms	Associate	24349560
Down Syndrome	Associate	8644714
Glomerulonephritis IGA	Inhibit	20485333
Inflammation	Associate	39596188
Kidney Diseases	Associate	28618971
Kidney Diseases Cystic	Associate	28618971
Kidney Failure Chronic	Associate	19177160
Lung Neoplasms	Associate	28618971
Lymphatic Metastasis	Stimulate	28618971
Medullary cystic kidney disease 1	Associate	12234310
Multiple Myeloma	Associate	13952722
Myeloproliferative Syndrome Transient	Associate	8644714
Neoplasm Metastasis	Associate	39596188
Neoplasms	Associate	30576868
Neoplasms	Inhibit	39596188
Nephronophthisis 2	Associate	19177160
Nephronophthisis familial juvenile	Associate	12205563, 17617513, 18076122, 28618971