INVS (inversin)

Gene

• Entrez ID: 27130
• Gene name: Inversin
• Gene symbol: INVS
• Synonyms (NCBI Gene): INV, NPH2, 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:0001822	Process	Kidney development	IBA
GO:0005515	Function	Protein binding	IPI	18371931, 21565611, 21602787, 29959317, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0042995	Component	Cell projection	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18371931
GO:1904108	Process	Protein localization to ciliary inversin compartment	IBA

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Infantile nephronophthisis	Pathogenic; Likely pathogenic	rs1833004339, rs935629850, rs779545419, rs2118494165, rs777723411, rs777556837, rs773049314, rs2491244807, rs2490137922, rs121964994, rs267607185, rs200844390, rs753348470, rs2491192429, rs2491236702, rs368746630, rs750287289, rs374520570, rs1831817207, rs1564177022, rs752609119, rs2490877060, rs1369878554, rs2490115316, rs1179816505, rs1166667492, rs1425211517, rs1322951938, rs375416014, rs755288504, rs1588153872, rs1329661241, rs149055711	RCV004762277 RCV002504632 RCV002488200 RCV001780423 RCV002497887 RCV005050522 RCV002482466 RCV003219185 RCV003225660 RCV000012737 RCV000012739 RCV000012740 RCV000012741 RCV003335871 RCV003335872 RCV005051296 RCV003486324 RCV005047705 RCV005871231 RCV005051350 RCV005047728 RCV005051357 RCV005356516 RCV005040546 RCV005040604 RCV005051413 RCV001644766 RCV002499336 RCV002507430 RCV000851309 RCV000851310 RCV002489535 RCV001281145	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INVS-related disorder	Likely pathogenic; Pathogenic	rs773049314, rs267607185, rs200844390, rs753348470, rs368746630, rs1179816505	RCV003911056 RCV004752702 RCV003415689 RCV003934826 RCV003391578 RCV004753736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Pathogenic; Likely pathogenic	rs1833004339, rs935629850, rs2118799345, rs779545419, rs757019335, rs2118781593, rs763565647, rs777723411, rs2118762244, rs777556837, rs1588145141, rs773049314, rs772917131, rs755549444, rs778745264, rs2490118392, rs1833643967, rs1833814168, rs2490036732, rs2491257149, rs2491192423, rs2490114604, rs2491245262, rs2490055960, rs878855332, rs376879175, rs769739938, rs121964994, rs267607185, rs200844390, rs753348470, rs1442064385, rs2490003602, rs985435686, rs2490055816, rs2491201847, rs2490003475, rs2490118090, rs1303311376, rs2491256806, rs2490088747, rs2491202052, rs374520570, rs2490115909, rs2491192231, rs2490087462, rs2490087284, rs375757276, rs1831817207, rs1564177022, rs2490005816, rs752609119, rs2490877865, rs2490877060, rs2490134421, rs2491192475, rs886063266, rs2490115774, rs772665481, rs2490036502, rs765201028, rs1369878554, rs1292147160, rs2490118043, rs2490115316, rs768677542, rs1409741643, rs1179816505, rs1166667492, rs1564171882, rs150001738, rs1564123602, rs1425211517, rs1322951938, rs375753623, rs375416014, rs955421639, rs755288504, rs1205325321, rs1329661241, rs764384987, rs1007394906, rs149055711	RCV001958795 RCV001378836 RCV001377905 RCV001380935 RCV001388144 RCV001917757 RCV001962975 RCV001949543 RCV001951326 RCV002046047 RCV002042073 RCV001876509 RCV003058437 RCV001852129 RCV003112865 RCV002584120 RCV002761253 RCV002829210 RCV002857405 RCV002852101 RCV002895021 RCV003031898 RCV003037949 RCV003055293 RCV003035766 RCV000234834 RCV000234833 RCV002518920 RCV000816190 RCV001851809 RCV000234825 RCV001382990 RCV003586512 RCV003586853 RCV003587082 RCV003587581 RCV003587474 RCV003587542 RCV003587543 RCV003587604 RCV003587605 RCV003587558 RCV003587702 RCV003587703 RCV003587616 RCV003587712 RCV003587867 RCV003587913 RCV003587966 RCV003748558 RCV003748596 RCV003748535 RCV003749200 RCV003749611 RCV003750106 RCV003750127 RCV003749967 RCV003747794 RCV003747898 RCV003748789 RCV003748820 RCV003748854 RCV003748912 RCV003749675 RCV003830939 RCV003831516 RCV003861123 RCV003874174 RCV003871774 RCV003880067 RCV003881828 RCV000638094 RCV000689190 RCV000687565 RCV000819646 RCV001855632 RCV003586219 RCV000817228 RCV000826209 RCV003748288 RCV001066092 RCV001034945 RCV001209172 RCV001242107 RCV002570439	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney failure	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	—	CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO CTD, ClinGen, Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	28596234		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	24339792		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	11935322		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34750413	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28618971		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39596188	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31802548		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26091520		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17216245, 19177160		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 23559409	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29963541		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24349560	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	11935322		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	18218308, 24677454, 28618971		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	18218308		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	LHGDN	18218308		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	8644714	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26091520		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	17216245, 24339792		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	20485333	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	18218308, 18607645		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile nephronophthisis	Nephronophthisis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	28618971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	28618971	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases Cystic	Kidney disease	Pubtator	28618971	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	16522655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	19177160	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17216245, 19177160		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17216245		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2129034		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11455976		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28618971	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28618971	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28618971		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28618971		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	24339792		★☆☆☆☆ Found in Text Mining only
Medullary cystic kidney disease 1	Medullary Cystic Kidney Disease	BEFREE	10966501, 11261687		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	13952722	Associate	★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	BEFREE	29889867		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	8644714	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	12234310, 12872122, 12872123, 16522655, 16816842, 17216245, 18218308, 20798123, 23713026, 24339792, 28618971, 28978526, 29889867		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG	12872123		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	CLINVAR_DG	12872123, 21866095, 23559409		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 1	Nephronophthisis	BEFREE	12234310, 20798123		★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 2	Nephronophthisis	BEFREE	12872123, 18218308, 19177160, 28978526, 29889867, 31706999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	CLINVAR_DG	12872123, 18076122, 19177160, 20798123, 21866095, 23559409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	GENOMICS_ENGLAND_DG	12872123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	UNIPROT_DG	12872123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis 2	Nephronophthisis	Pubtator	19177160	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	12205563, 17617513, 18076122, 28618971	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis, familial juvenile	Nephronophthisis	BEFREE	20798123		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28618971, 29115441		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG	12872123		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	16522655, 22819833		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22076433		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16522655		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16522655		★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	BEFREE	12872123, 18218308, 20798123		★☆☆☆☆ Found in Text Mining only