MAPKBP1 (mitogen-activated protein kinase binding protein 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23005
• Gene name: Mitogen-activated protein kinase binding protein 1
• Gene symbol: MAPKBP1
• Synonyms (NCBI Gene): JNKBP-1, JNKBP1, NPHP20
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold pro

SNPs Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs202001274	C>G,T	Pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
rs752616462	C>G,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1057519303	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519304	C>A,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519305	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057519306	G>A	Pathogenic	Splice acceptor variant
rs1596088812	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA Show/Hide all (218)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715515	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT715514	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT715513	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT715512	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT715511	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT715510	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT715509	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT715508	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT715507	hsa-miR-4290	HITS-CLIP	19536157
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT473684	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT473683	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT473682	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT473681	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT473679	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT473680	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT473678	hsa-miR-4493	PAR-CLIP	23592263
MIRT473677	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT473676	hsa-miR-3665	PAR-CLIP	23592263
MIRT473675	hsa-miR-657	PAR-CLIP	23592263
MIRT473674	hsa-miR-4451	PAR-CLIP	23592263
MIRT473673	hsa-miR-6126	PAR-CLIP	23592263
MIRT715515	hsa-miR-29b-3p	HITS-CLIP	19536157
MIRT715514	hsa-miR-29c-3p	HITS-CLIP	19536157
MIRT715513	hsa-miR-29a-3p	HITS-CLIP	19536157
MIRT715512	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT715511	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT715510	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT715509	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT715508	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT715507	hsa-miR-4290	HITS-CLIP	19536157
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT617689	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT617688	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT617687	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT617686	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT617685	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT617684	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT473684	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT473683	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT473682	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT473681	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT473679	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT473680	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT473678	hsa-miR-4493	PAR-CLIP	23592263
MIRT473677	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT473676	hsa-miR-3665	PAR-CLIP	23592263
MIRT473675	hsa-miR-657	PAR-CLIP	23592263
MIRT473674	hsa-miR-4451	PAR-CLIP	23592263
MIRT473673	hsa-miR-6126	PAR-CLIP	23592263
MIRT1131558	hsa-miR-1307	CLIP-seq
MIRT1131559	hsa-miR-132	CLIP-seq
MIRT1131560	hsa-miR-1827	CLIP-seq
MIRT1131561	hsa-miR-197	CLIP-seq
MIRT1131562	hsa-miR-2110	CLIP-seq
MIRT1131563	hsa-miR-212	CLIP-seq
MIRT1131564	hsa-miR-296-5p	CLIP-seq
MIRT1131565	hsa-miR-29a	CLIP-seq
MIRT1131566	hsa-miR-29b	CLIP-seq
MIRT1131567	hsa-miR-29c	CLIP-seq
MIRT1131568	hsa-miR-3125	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT1131570	hsa-miR-3202	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT1131572	hsa-miR-3916	CLIP-seq
MIRT1131573	hsa-miR-3929	CLIP-seq
MIRT1131574	hsa-miR-411	CLIP-seq
MIRT1131575	hsa-miR-4270	CLIP-seq
MIRT1131576	hsa-miR-4271	CLIP-seq
MIRT1131577	hsa-miR-4284	CLIP-seq
MIRT1131578	hsa-miR-4316	CLIP-seq
MIRT1131579	hsa-miR-4419b	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT1131581	hsa-miR-4438	CLIP-seq
MIRT1131582	hsa-miR-4441	CLIP-seq
MIRT1131583	hsa-miR-4464	CLIP-seq
MIRT1131584	hsa-miR-4478	CLIP-seq
MIRT1131585	hsa-miR-4481	CLIP-seq
MIRT1131586	hsa-miR-4638-5p	CLIP-seq
MIRT1131587	hsa-miR-4640-5p	CLIP-seq
MIRT1131588	hsa-miR-4666-3p	CLIP-seq
MIRT1131589	hsa-miR-4695-3p	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT1131592	hsa-miR-4709-5p	CLIP-seq
MIRT1131593	hsa-miR-4716-5p	CLIP-seq
MIRT1131594	hsa-miR-4725-3p	CLIP-seq
MIRT1131595	hsa-miR-4726-5p	CLIP-seq
MIRT1131596	hsa-miR-4731-5p	CLIP-seq
MIRT1131597	hsa-miR-4745-5p	CLIP-seq
MIRT1131598	hsa-miR-4747-5p	CLIP-seq
MIRT1131599	hsa-miR-4748	CLIP-seq
MIRT1131600	hsa-miR-4749-3p	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT1131602	hsa-miR-4781-3p	CLIP-seq
MIRT1131603	hsa-miR-491-5p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT1131605	hsa-miR-5095	CLIP-seq
MIRT1131606	hsa-miR-5096	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT1131609	hsa-miR-877	CLIP-seq
MIRT1131610	hsa-miR-1238	CLIP-seq
MIRT1131611	hsa-miR-3124-3p	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT1131573	hsa-miR-3929	CLIP-seq
MIRT1131579	hsa-miR-4419b	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT1131584	hsa-miR-4478	CLIP-seq
MIRT1131589	hsa-miR-4695-3p	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT1131602	hsa-miR-4781-3p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT2037461	hsa-miR-103a	CLIP-seq
MIRT2037462	hsa-miR-107	CLIP-seq
MIRT2037463	hsa-miR-1184	CLIP-seq
MIRT2037464	hsa-miR-1976	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT2037465	hsa-miR-4279	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2037466	hsa-miR-4722-3p	CLIP-seq
MIRT2037467	hsa-miR-4740-3p	CLIP-seq
MIRT2267398	hsa-miR-2467-3p	CLIP-seq
MIRT2267399	hsa-miR-3184	CLIP-seq
MIRT1131569	hsa-miR-3187-3p	CLIP-seq
MIRT2267400	hsa-miR-3612	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT2267401	hsa-miR-3664-3p	CLIP-seq
MIRT2267402	hsa-miR-3944-5p	CLIP-seq
MIRT2267403	hsa-miR-423-5p	CLIP-seq
MIRT2267404	hsa-miR-4252	CLIP-seq
MIRT2267405	hsa-miR-4433	CLIP-seq
MIRT1131580	hsa-miR-4435	CLIP-seq
MIRT2267406	hsa-miR-4443	CLIP-seq
MIRT2267407	hsa-miR-4459	CLIP-seq
MIRT2267408	hsa-miR-4474-3p	CLIP-seq
MIRT2267409	hsa-miR-4675	CLIP-seq
MIRT1131590	hsa-miR-4701-5p	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2267410	hsa-miR-4741	CLIP-seq
MIRT1131601	hsa-miR-4755-3p	CLIP-seq
MIRT2267411	hsa-miR-4768-3p	CLIP-seq
MIRT1131607	hsa-miR-548s	CLIP-seq
MIRT1131608	hsa-miR-588	CLIP-seq
MIRT2267412	hsa-miR-650	CLIP-seq
MIRT2037461	hsa-miR-103a	CLIP-seq
MIRT2037462	hsa-miR-107	CLIP-seq
MIRT2037463	hsa-miR-1184	CLIP-seq
MIRT1131571	hsa-miR-3648	CLIP-seq
MIRT1131591	hsa-miR-4707-3p	CLIP-seq
MIRT2567168	hsa-miR-1182	CLIP-seq
MIRT2567169	hsa-miR-1229	CLIP-seq
MIRT2567170	hsa-miR-140-3p	CLIP-seq
MIRT1131560	hsa-miR-1827	CLIP-seq
MIRT2037464	hsa-miR-1976	CLIP-seq
MIRT2567171	hsa-miR-3121-5p	CLIP-seq
MIRT2567172	hsa-miR-3156-3p	CLIP-seq
MIRT2267399	hsa-miR-3184	CLIP-seq
MIRT2567173	hsa-miR-328	CLIP-seq
MIRT2267400	hsa-miR-3612	CLIP-seq
MIRT2267403	hsa-miR-423-5p	CLIP-seq
MIRT2267404	hsa-miR-4252	CLIP-seq
MIRT2037465	hsa-miR-4279	CLIP-seq
MIRT2567174	hsa-miR-4281	CLIP-seq
MIRT2567175	hsa-miR-4301	CLIP-seq
MIRT2567176	hsa-miR-4427	CLIP-seq
MIRT2267406	hsa-miR-4443	CLIP-seq
MIRT2567177	hsa-miR-4446-5p	CLIP-seq
MIRT2267409	hsa-miR-4675	CLIP-seq
MIRT2037466	hsa-miR-4722-3p	CLIP-seq
MIRT2037467	hsa-miR-4740-3p	CLIP-seq
MIRT2267410	hsa-miR-4741	CLIP-seq
MIRT2567178	hsa-miR-4755-5p	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT2567179	hsa-miR-499-3p	CLIP-seq
MIRT2567180	hsa-miR-499a-3p	CLIP-seq
MIRT2567181	hsa-miR-642a	CLIP-seq
MIRT2267412	hsa-miR-650	CLIP-seq
MIRT2567182	hsa-miR-940	CLIP-seq
MIRT2567168	hsa-miR-1182	CLIP-seq
MIRT2567172	hsa-miR-3156-3p	CLIP-seq
MIRT2567174	hsa-miR-4281	CLIP-seq
MIRT2567175	hsa-miR-4301	CLIP-seq
MIRT2567177	hsa-miR-4446-5p	CLIP-seq
MIRT2684606	hsa-miR-4735-5p	CLIP-seq
MIRT2567178	hsa-miR-4755-5p	CLIP-seq
MIRT2684607	hsa-miR-4775	CLIP-seq
MIRT1131604	hsa-miR-498	CLIP-seq
MIRT2684608	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	22700971, 25416956, 28089251, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28089251
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0032717	Process	Negative regulation of interleukin-8 production	IMP	22700971
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	22700971
GO:0046330	Process	Positive regulation of JNK cascade	IBA
GO:0097431	Component	Mitotic spindle pole	IDA	28089251
GO:1900425	Process	Negative regulation of defense response to bacterium	IMP	22700971
GO:1902531	Process	Regulation of intracellular signal transduction	IEA

Other IDs

• MIM: 616786
• HGNC: 29536
• e!Ensembl: ENSG00000137802

Protein

• UniProt ID: O60336
• Protein name: Mitogen-activated protein kinase-binding protein 1 (JNK-binding protein 1) (JNKBP-1)
• Protein function: Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity). {ECO:0000250
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	75 → 120	WD domain, G-beta repeat	Repeat
  PF00400	WD40	693 → 731	WD domain, G-beta repeat	Repeat
  PF00400	WD40	326 → 372	WD domain, G-beta repeat	Repeat
  PF00400	WD40	125 → 163	WD domain, G-beta repeat	Repeat
  PF00400	WD40	381 → 427	WD domain, G-beta repeat	Repeat
  PF00400	WD40	168 → 203	WD domain, G-beta repeat	Repeat
  PF00400	WD40	272 → 306	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in intestinal mucosa, where it is detected in epithelial cells, endothelial cells, smooth muscle cells and immune cells, such as lymphocytes (PubMed:22700971). Expressed in kidney (PubMed:28089251). {ECO:0000269|PubMed:227009
• Sequence:

  MAVEGSTITSRIKNLLRSPSIKLRRSKAGNRREDLSSKVTLEKVLGITVSGGRGLACDPR
  SGLVAYPAGCVVVLFNPRKHKQHHILNSSRKTITALAFSPDGKYLVTGESGHMPAVRVWD
  VAEHSQVAELQEHKYGVACVAFSPSAKYIVSVGYQHDMIVNVWAWKKNIVVASNKVSSRV
  TAVSFSEDCSYFVTAGNRHIKFWYLDDSKTSKVNATVPLLGRSGLLGELRNNLFTDVACG
  RGKKADSTFCITSSGLLCEFSDRRLLDKWVELRNIDSFTTTVAHCISVSQDYIFCGCADG
  TVRLFNPSNLHFLSTLPRPHALGTDIASVTEASRLFSGVANARYPDTIALTFDPTNQWLS
  CVYNDHSIYVWDVRDPKKVGKVYSALYHSSCVWSVEVYPEVKDSNQACLPPSSFITCSSD
  NTIRLWNTESSGVHGSTLHRNILSSDLIKIIYVDGNTQALLDTELPGGDKADASLLDPRV
  GIRSVCVSPNGQHLASGDRMGTLRVHELQSLSEMLKVEAHDSEILCLEYSKPDTGLKLLA
  SASRDRLIHVLDAGREYSLQQTLDEHSSSITAVKFAASDGQVRMISCGADKSIYFRTAQK
  SGDGVQFTRTHHVVRKTTLYDMDVEPSWKYTAIGCQDRNIRIFNISSGKQKKLFKGSQGE
  DGTLIKVQTDPSGIYIATSCSDKNLSIFDFSSGECVATMFGHSEIVTGMKFSNDCKHLIS
  VSGDSCIFVWRLSSEMTISMRQRLAELRQRQRGGKQQGPSSPQRASGPNRHQAPSMLSPG
  PALSSDSDKEGEDEGTEEELPALPVLAKSTKKALASVPSPALPRSLSHWEMSRAQESVGF
  LDPAPAANPGPRRRGRWVQPGVELSVRSMLDLRQLETLAPSLQDPSQDSLAIIPSGPRKH
  GQEALETSLTSQNEKPPRPQASQPCSYPHIIRLLSQEEGVFAQDLEPAPIEDGIVYPEPS
  DNPTMDTSEFQVQAPARGTLGRVYPGSRSSEKHSPDSACSVDYSSSCLSSPEHPTEDSES
  TEPLSVDGISSDLEEPAEGDEEEEEEEGGMGPYGLQEGSPQTPDQEQFLKQHFETLASGA
  APGAPVQVPERSESRSISSRFLLQVQTRPLREPSPSSSSLALMSRPAQVPQASGEQPRGN
  GANPPGAPPEVEPSSGNPSPQQAASVLLPRCRLNPDSSWAPKRVATASPFSGLQKAQSVH
  SLVPQERHEASLQAPSPGALLSREIEAQDGLGSLPPADGRPSRPHSYQNPTTSSMAKISR
  SISVGENLGLVAEPQAHAPIRVSPLSKLALPSRAHLVLDIPKPLPDRPTLAAFSPVTKGR
  APGEAEKPGFPVGLGKAHSTTERWACLGEGTTPKPRTECQAHPGPSSPCAQQLPVSSLFQ
  GPENLQPPPPEKTPNPMECTKPGAALSQDSEPAVSLEQCEQLVAELRGSVRQAVRLYHSV
  AGCKMPSAEQSRIAQLLRDTFSSVRQELEAVAGAVLSSPGSSPGAVGAEQTQALLEQYSE
  LLLRAVERRMERKL

• Sequence length: 1514

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
MAPKBP1-related disorder	Likely pathogenic; Pathogenic	rs2152080114, rs1219418471	RCV003418358 RCV003939726	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 20	Likely pathogenic; Pathogenic	rs2152080114, rs2551103543, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1596088812	RCV002052245 RCV003990406 RCV000415517 RCV000415560 RCV000415593 RCV000415534 RCV000415552 RCV000415598 RCV000984998	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (14)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEPHRONOPHTHISIS	—	Orphanet	28089251	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS, FAMILIAL JUVENILE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256, 38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (16)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	32055034	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	28089251		★☆☆☆☆ Found in Text Mining only
Juvenile nephronophthisis	Nephronophthisis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	32505465	Associate	★☆☆☆☆ Found in Text Mining only
Late-onset nephronophthisis	Nephronophthisis	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25924238	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	28089251		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 20	Nephronophthisis	GENOMICS_ENGLAND_DG	28089251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 20	Nephronophthisis	UNIPROT_DG	28089251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 20	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 20	Nephronophthisis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	32505465	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis, familial juvenile	Nephronophthisis	ORPHANET_DG	28089251		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GLIS2 1 shared diseaseNephronophthisis 6 shared evidence sourcesOrphanet (Nephronophthisis), Disgenet (Nephronophthisis), ClinVar (Nephronophthisis), ClinGen (Nephronophthisis), CTD (Nephronophthisis), HPO (Nephronophthisis) Related via 1 shared disease including Nephronophthisis — evidence mostly Orphanet. CEP164 1 shared diseaseNephronophthisis 4 shared evidence sourcesDisgenet (Nephronophthisis), ClinVar (Nephronophthisis), CTD (Nephronophthisis), HPO (Nephronophthisis) Related via 1 shared disease including Nephronophthisis — evidence mostly Disgenet. CEP83 1 shared diseaseNephronophthisis 4 shared evidence sourcesDisgenet (Nephronophthisis), ClinVar (Nephronophthisis), CTD (Nephronophthisis), HPO (Nephronophthisis) Related via 1 shared disease including Nephronophthisis — evidence mostly Disgenet. ANKS6 1 shared diseaseNephronophthisis 6 shared evidence sourcesOrphanet (Nephronophthisis), Disgenet (Nephronophthisis), ClinVar (Nephronophthisis), ClinGen (Nephronophthisis), CTD (Nephronophthisis), HPO (Nephronophthisis) Related via 1 shared disease including Nephronophthisis — evidence mostly Orphanet. INVS 1 shared diseaseNephronophthisis 5 shared evidence sourcesDisgenet (Nephronophthisis), ClinVar (Nephronophthisis), ClinGen (Nephronophthisis), CTD (Nephronophthisis), HPO (Nephronophthisis) Related via 1 shared disease including Nephronophthisis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GLIS2	1	["Nephronophthisis"]	0	[]	6	["Orphanet (Nephronophthisis)","Disgenet (Nephronophthisis)","ClinVar (Nephronophthisis)","ClinGen (Nephronophthisis)","CTD (Nephronophthisis)","HPO (Nephronophthisis)"]
CEP164	1	["Nephronophthisis"]	0	[]	4	["Disgenet (Nephronophthisis)","ClinVar (Nephronophthisis)","CTD (Nephronophthisis)","HPO (Nephronophthisis)"]
CEP83	1	["Nephronophthisis"]	0	[]	4	["Disgenet (Nephronophthisis)","ClinVar (Nephronophthisis)","CTD (Nephronophthisis)","HPO (Nephronophthisis)"]
ANKS6	1	["Nephronophthisis"]	0	[]	6	["Orphanet (Nephronophthisis)","Disgenet (Nephronophthisis)","ClinVar (Nephronophthisis)","ClinGen (Nephronophthisis)","CTD (Nephronophthisis)","HPO (Nephronophthisis)"]
INVS	1	["Nephronophthisis"]	0	[]	5	["Disgenet (Nephronophthisis)","ClinVar (Nephronophthisis)","ClinGen (Nephronophthisis)","CTD (Nephronophthisis)","HPO (Nephronophthisis)"]

Diseases Linked via Similar Genes

Kidney disease Linked via 3 of 5 related genesGLIS2, ANKS6, INVS Ciliopathy Linked via 2 of 5 related genesCEP164, CEP83 Metabolic syndrome Linked via 2 of 5 related genesCEP164, ANKS6 Retinitis pigmentosa Linked via 2 of 5 related genesCEP164, INVS Senior-loken syndrome Linked via 2 of 5 related genesCEP164, INVS

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Kidney disease	3	["GLIS2","ANKS6","INVS"]
Ciliopathy	2	["CEP164","CEP83"]
Metabolic syndrome	2	["CEP164","ANKS6"]
Retinitis pigmentosa	2	["CEP164","INVS"]
Senior-loken syndrome	2	["CEP164","INVS"]