NEK8 (NIMA related kinase 8)

Gene

• Entrez ID: 284086
• Gene name: NIMA related kinase 8
• Gene symbol: NEK8
• Synonyms (NCBI Gene): JCK, NEK12A, NPHP9, PKD8, RHPD2
• Chromosome: 17
• Chromosome location: 17q11.2
• Summary: This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204032	C>T	Pathogenic	Coding sequence variant, missense variant
rs140255077	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375661404	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs376531637	C>T	Pathogenic	Coding sequence variant, missense variant
rs751440831	G>A	Pathogenic	Coding sequence variant, missense variant
rs752792782	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs755820155	->C	Pathogenic	Coding sequence variant, frameshift variant, stop lost
rs756231248	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs762826555	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs770284675	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs773883764	C>T	Pathogenic	Missense variant, coding sequence variant
rs780247729	G>T	Likely-pathogenic	Splice donor variant
rs1555563725	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555563787	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555564134	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555564214	T>-	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724383	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT724382	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT724381	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT724380	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT724379	hsa-miR-6131	HITS-CLIP	19536157
MIRT724378	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT724377	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT724376	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT724375	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT649295	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT649294	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT649293	hsa-miR-622	HITS-CLIP	23824327
MIRT649291	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT649292	hsa-miR-4264	HITS-CLIP	23824327
MIRT649290	hsa-miR-3176	HITS-CLIP	23824327
MIRT649289	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT649288	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT649287	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT649286	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT649285	hsa-miR-548s	HITS-CLIP	23824327
MIRT649284	hsa-miR-4435	HITS-CLIP	23824327
MIRT649283	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT649282	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT649281	hsa-miR-1303	HITS-CLIP	23824327
MIRT518866	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT518865	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT518864	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT518863	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT518862	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT518861	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT518860	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT518859	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT518858	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT518857	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT518856	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT518855	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT518854	hsa-miR-302e	PAR-CLIP	23446348
MIRT518853	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT518852	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT518851	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT518850	hsa-miR-520b	PAR-CLIP	23446348
MIRT518849	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT518848	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT518847	hsa-miR-520e	PAR-CLIP	23446348
MIRT518846	hsa-miR-4438	PAR-CLIP	23446348
MIRT518845	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT518844	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518843	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT518842	hsa-miR-520h	PAR-CLIP	23446348
MIRT518841	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518840	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518839	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT518838	hsa-miR-4252	PAR-CLIP	23446348
MIRT518837	hsa-miR-4297	PAR-CLIP	23446348
MIRT518836	hsa-miR-5581-5p	PAR-CLIP	23446348
MIRT518835	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT518834	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT518833	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT518832	hsa-miR-5095	PAR-CLIP	23446348
MIRT518831	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518830	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518829	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT724383	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT724382	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT724381	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT724380	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT724379	hsa-miR-6131	HITS-CLIP	19536157
MIRT724378	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT724377	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT724376	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT724375	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT649295	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT649294	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT649293	hsa-miR-622	HITS-CLIP	23824327
MIRT649291	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT649292	hsa-miR-4264	HITS-CLIP	23824327
MIRT649290	hsa-miR-3176	HITS-CLIP	23824327
MIRT649289	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT649288	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT649287	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT649286	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT649285	hsa-miR-548s	HITS-CLIP	23824327
MIRT649284	hsa-miR-4435	HITS-CLIP	23824327
MIRT649283	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT649282	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT649281	hsa-miR-1303	HITS-CLIP	23824327
MIRT518866	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT518865	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT518864	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT518863	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT518862	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT518861	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT518860	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT518859	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT518858	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT518857	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT518856	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT518855	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT518854	hsa-miR-302e	PAR-CLIP	23446348
MIRT518853	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT518852	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT518851	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT518850	hsa-miR-520b	PAR-CLIP	23446348
MIRT518849	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT518848	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT518847	hsa-miR-520e	PAR-CLIP	23446348
MIRT518846	hsa-miR-4438	PAR-CLIP	23446348
MIRT518845	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT518844	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT518843	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT518842	hsa-miR-520h	PAR-CLIP	23446348
MIRT518841	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT518840	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT518839	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT518838	hsa-miR-4252	PAR-CLIP	23446348
MIRT518837	hsa-miR-4297	PAR-CLIP	23446348
MIRT518836	hsa-miR-5581-5p	PAR-CLIP	23446348
MIRT518835	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT518834	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT518833	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT518832	hsa-miR-5095	PAR-CLIP	23446348
MIRT518831	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT518830	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT518829	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1180421	hsa-miR-106a	CLIP-seq
MIRT1180422	hsa-miR-106b	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT1180426	hsa-miR-150	CLIP-seq
MIRT1180427	hsa-miR-17	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180430	hsa-miR-20a	CLIP-seq
MIRT1180431	hsa-miR-20b	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180433	hsa-miR-302a	CLIP-seq
MIRT1180434	hsa-miR-302b	CLIP-seq
MIRT1180435	hsa-miR-302c	CLIP-seq
MIRT1180436	hsa-miR-302d	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT1180439	hsa-miR-372	CLIP-seq
MIRT1180440	hsa-miR-373	CLIP-seq
MIRT1180441	hsa-miR-4454	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT1180444	hsa-miR-4707-3p	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT1180449	hsa-miR-519d	CLIP-seq
MIRT1180450	hsa-miR-520g	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180454	hsa-miR-93	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT2052201	hsa-miR-1200	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT2052203	hsa-miR-4279	CLIP-seq
MIRT2052204	hsa-miR-4324	CLIP-seq
MIRT2052205	hsa-miR-4468	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT2052206	hsa-miR-4722-3p	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT2052207	hsa-miR-544b	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180421	hsa-miR-106a	CLIP-seq
MIRT1180422	hsa-miR-106b	CLIP-seq
MIRT1180423	hsa-miR-1193	CLIP-seq
MIRT2052201	hsa-miR-1200	CLIP-seq
MIRT1180424	hsa-miR-1207-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT1180426	hsa-miR-150	CLIP-seq
MIRT1180427	hsa-miR-17	CLIP-seq
MIRT1180428	hsa-miR-197	CLIP-seq
MIRT1180429	hsa-miR-1976	CLIP-seq
MIRT1180430	hsa-miR-20a	CLIP-seq
MIRT1180431	hsa-miR-20b	CLIP-seq
MIRT1180432	hsa-miR-2392	CLIP-seq
MIRT1180433	hsa-miR-302a	CLIP-seq
MIRT1180434	hsa-miR-302b	CLIP-seq
MIRT1180435	hsa-miR-302c	CLIP-seq
MIRT1180436	hsa-miR-302d	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT1180439	hsa-miR-372	CLIP-seq
MIRT1180440	hsa-miR-373	CLIP-seq
MIRT2052203	hsa-miR-4279	CLIP-seq
MIRT2052204	hsa-miR-4324	CLIP-seq
MIRT1180441	hsa-miR-4454	CLIP-seq
MIRT2052205	hsa-miR-4468	CLIP-seq
MIRT1180442	hsa-miR-4662a-5p	CLIP-seq
MIRT1180443	hsa-miR-4676-5p	CLIP-seq
MIRT1180444	hsa-miR-4707-3p	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT2052206	hsa-miR-4722-3p	CLIP-seq
MIRT1180448	hsa-miR-5096	CLIP-seq
MIRT1180449	hsa-miR-519d	CLIP-seq
MIRT1180450	hsa-miR-520g	CLIP-seq
MIRT2052207	hsa-miR-544b	CLIP-seq
MIRT1180451	hsa-miR-575	CLIP-seq
MIRT1180453	hsa-miR-646	CLIP-seq
MIRT1180454	hsa-miR-93	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq
MIRT1180425	hsa-miR-1227	CLIP-seq
MIRT2455053	hsa-miR-1273f	CLIP-seq
MIRT2052202	hsa-miR-129-5p	CLIP-seq
MIRT2455054	hsa-miR-3149	CLIP-seq
MIRT1180437	hsa-miR-3170	CLIP-seq
MIRT1180438	hsa-miR-3199	CLIP-seq
MIRT2455055	hsa-miR-411	CLIP-seq
MIRT1180445	hsa-miR-4715-3p	CLIP-seq
MIRT1180446	hsa-miR-4735-5p	CLIP-seq
MIRT1180447	hsa-miR-4775	CLIP-seq
MIRT1180452	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	22939624, 23418306, 25036637, 25416956, 26188091, 26638075, 26967905, 32296183, 32707033, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	26967905
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	IMP	18199800
GO:0005929	Component	Cilium	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0009887	Process	Animal organ morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	IMP	23418306
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035330	Process	Regulation of hippo signaling	IDA	23418306
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0097543	Component	Ciliary inversin compartment	IEA
GO:0097546	Component	Ciliary base	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 609799
• HGNC: 13387
• e!Ensembl: ENSG00000160602

Protein

• UniProt ID: Q86SG6
• Protein name: Serine/threonine-protein kinase Nek8 (EC 2.7.11.1) (Never in mitosis A-related kinase 8) (NimA-related protein kinase 8) (Nima-related protein kinase 12a)
• Protein function: Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 258	Protein kinase domain	Domain
  PF00415	RCC1	409 → 458	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	463 → 510	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	579 → 628	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	631 → 681	Regulator of chromosome condensation (RCC1) repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma. {E
• Sequence:

  MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNH
  PNVIEYYENFLEDKALMIAMEYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVH
  THLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYISPELCEGKPY
  NQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLS
  LEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPR
  GPVRPAIPPPLSSVYAWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPP
  LGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSN
  GCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTR
  ESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVP
  HQQVEEALSFTLLGSAPLDQEPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRG
  SRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKGARGRLGRRDEDAGLPRPVQL
  DETHPYTVTSVSCCHGNTLLAVRSVTDEPVPP

• Sequence length: 692

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
NEK8-related disorder	Likely pathogenic; Pathogenic	rs778770826, rs1403427403, rs375661404	RCV003900988 RCV003414413 RCV004754289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 9	Likely pathogenic; Pathogenic	rs1282492342, rs2151732872, rs1226393603, rs118204032, rs763288569, rs2544444797, rs141973397, rs1555564134, rs752792782, rs770284675, rs780247729, rs1555564214, rs375661404, rs749866369	RCV002503649 RCV001931248 RCV001925927 RCV000001553 RCV002922544 RCV003602515 RCV003600350 RCV000540179 RCV005004257 RCV005019006 RCV000648812 RCV000648813 RCV005089461 RCV001041320	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease 8	Pathogenic; Likely pathogenic	rs752792782, rs770284675, rs780247729	RCV005004257 RCV005019006 RCV005004296	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian insufficiency	Likely pathogenic; Pathogenic	rs375661404	RCV000766162	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal-hepatic-pancreatic dysplasia 2	Pathogenic; Likely pathogenic	rs2151732018, rs1282492342, rs762826555, rs778770826, rs141973397, rs755820155, rs1555563787, rs751440831, rs1367268677, rs752792782, rs770284675, rs780247729, rs375661404, rs772543894	RCV001533170 RCV002503649 RCV000581604 RCV003224943 RCV005356505 RCV000583089 RCV000582388 RCV000584400 RCV000582467 RCV005004257 RCV000581336 RCV005004296 RCV000055629 RCV001281189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cystic renal disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	27120335	Associate	★☆☆☆☆ Found in Text Mining only
Asplenia Syndrome	Asplenia	BEFREE	26697755		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10213225, 23026745		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37100815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23376929	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15517871		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	11107175		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26697755		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	20179356, 23026745, 23973371, 23973373		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10213225, 28486761		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37596667	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26697755		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	18199800, 22106379, 23418306, 26967905		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	18199800, 20179356, 22106379, 23418306		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	27114383		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	2524024		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	2524024		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34374193	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	23026745, 23418306		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile nephronophthisis	Nephronophthisis	Orphanet			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29805522		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	18199800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	26697755		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23026745		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15517871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30333866		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28486761		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15019993		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15019993, 19287191, 28486761		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	18199800, 22106379, 22899815, 23418306, 23973373, 26697755, 31005771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG	23418306, 26862157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Nephronophthisis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	ORPHANET_DG	18199800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 9	Nephronophthisis	BEFREE	18199800, 26697755		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 9	Nephronophthisis	UNIPROT_DG	18199800		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 9	Nephronophthisis	GENOMICS_ENGLAND_DG	23418306, 26862157		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 9	Nephronophthisis	CLINVAR_DG	23418306		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 9	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic Neoplasm	Pancreatic Neoplasm	CLINVAR_DG	20581473		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20581473	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	23973373, 27114383, 31005771		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA	RENAL-HEPATIC-PANCREATIC DYSPLASIA	GENOMICS_ENGLAND_DG	23418306, 26862157		★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA	RENAL-HEPATIC-PANCREATIC DYSPLASIA	ORPHANET_DG	23418306		★☆☆☆☆ Found in Text Mining only
Renal-hepatic-pancreatic dysplasia	RENAL-HEPATIC-PANCREATIC DYSPLASIA	Orphanet			★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2	RENAL-HEPATIC-PANCREATIC DYSPLASIA	GENOMICS_ENGLAND_DG	23418306, 26862157		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2	RENAL-HEPATIC-PANCREATIC DYSPLASIA	BEFREE	26697755		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2	RENAL-HEPATIC-PANCREATIC DYSPLASIA	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30333866		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only