CGNL1 (cingulin like 1)

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

Gene

• Entrez ID: 84952
• Gene name: Cingulin like 1
• Gene symbol: CGNL1
• Synonyms (NCBI Gene): JACOP, PCING
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs483352760	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

miRNA Show/Hide all (281)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018735	hsa-miR-335-5p	Microarray	18185580
MIRT024620	hsa-miR-215-5p	Microarray	19074876
MIRT026805	hsa-miR-192-5p	Microarray	19074876
MIRT045751	hsa-miR-125a-5p	CLASH	23622248
MIRT038313	hsa-miR-130b-5p	CLASH	23622248
MIRT037512	hsa-miR-744-5p	CLASH	23622248
MIRT437659	hsa-miR-195-5p	Microarray, qRT-PCR	22815788
MIRT737077	hsa-miR-31-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34201353
MIRT888295	hsa-miR-1229	CLIP-seq
MIRT888296	hsa-miR-1236	CLIP-seq
MIRT888297	hsa-miR-1243	CLIP-seq
MIRT888298	hsa-miR-1321	CLIP-seq
MIRT888299	hsa-miR-1322	CLIP-seq
MIRT888300	hsa-miR-193a-3p	CLIP-seq
MIRT888301	hsa-miR-193b	CLIP-seq
MIRT888302	hsa-miR-2052	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT888305	hsa-miR-219-5p	CLIP-seq
MIRT888306	hsa-miR-2467-3p	CLIP-seq
MIRT888307	hsa-miR-25	CLIP-seq
MIRT888308	hsa-miR-2909	CLIP-seq
MIRT888309	hsa-miR-297	CLIP-seq
MIRT888310	hsa-miR-3133	CLIP-seq
MIRT888311	hsa-miR-3163	CLIP-seq
MIRT888312	hsa-miR-3184	CLIP-seq
MIRT888313	hsa-miR-3187-3p	CLIP-seq
MIRT888314	hsa-miR-3189-5p	CLIP-seq
MIRT888315	hsa-miR-3194-5p	CLIP-seq
MIRT888316	hsa-miR-32	CLIP-seq
MIRT888317	hsa-miR-33a	CLIP-seq
MIRT888318	hsa-miR-33b	CLIP-seq
MIRT888319	hsa-miR-342-3p	CLIP-seq
MIRT888320	hsa-miR-34b	CLIP-seq
MIRT888321	hsa-miR-3609	CLIP-seq
MIRT888322	hsa-miR-3612	CLIP-seq
MIRT888323	hsa-miR-3614-5p	CLIP-seq
MIRT888324	hsa-miR-363	CLIP-seq
MIRT888325	hsa-miR-3654	CLIP-seq
MIRT888326	hsa-miR-3661	CLIP-seq
MIRT888327	hsa-miR-3668	CLIP-seq
MIRT888328	hsa-miR-367	CLIP-seq
MIRT888329	hsa-miR-3670	CLIP-seq
MIRT888330	hsa-miR-375	CLIP-seq
MIRT888331	hsa-miR-3978	CLIP-seq
MIRT888332	hsa-miR-423-5p	CLIP-seq
MIRT888333	hsa-miR-4257	CLIP-seq
MIRT888334	hsa-miR-4268	CLIP-seq
MIRT888335	hsa-miR-4270	CLIP-seq
MIRT888336	hsa-miR-4323	CLIP-seq
MIRT888337	hsa-miR-4325	CLIP-seq
MIRT888338	hsa-miR-4433	CLIP-seq
MIRT888339	hsa-miR-4435	CLIP-seq
MIRT888340	hsa-miR-4441	CLIP-seq
MIRT888341	hsa-miR-4445	CLIP-seq
MIRT888342	hsa-miR-4448	CLIP-seq
MIRT888343	hsa-miR-4511	CLIP-seq
MIRT888344	hsa-miR-4529-5p	CLIP-seq
MIRT888345	hsa-miR-4676-5p	CLIP-seq
MIRT888346	hsa-miR-4688	CLIP-seq
MIRT888347	hsa-miR-4700-3p	CLIP-seq
MIRT888348	hsa-miR-4701-5p	CLIP-seq
MIRT888349	hsa-miR-4719	CLIP-seq
MIRT888350	hsa-miR-4722-5p	CLIP-seq
MIRT888351	hsa-miR-4738-3p	CLIP-seq
MIRT888352	hsa-miR-4739	CLIP-seq
MIRT888353	hsa-miR-4756-5p	CLIP-seq
MIRT888354	hsa-miR-4779	CLIP-seq
MIRT888355	hsa-miR-4782-3p	CLIP-seq
MIRT888356	hsa-miR-486-3p	CLIP-seq
MIRT888357	hsa-miR-508-3p	CLIP-seq
MIRT888358	hsa-miR-508-5p	CLIP-seq
MIRT888359	hsa-miR-520d-5p	CLIP-seq
MIRT888360	hsa-miR-524-5p	CLIP-seq
MIRT888361	hsa-miR-548ah	CLIP-seq
MIRT888362	hsa-miR-548s	CLIP-seq
MIRT888363	hsa-miR-548t	CLIP-seq
MIRT888364	hsa-miR-567	CLIP-seq
MIRT888365	hsa-miR-575	CLIP-seq
MIRT888366	hsa-miR-588	CLIP-seq
MIRT888367	hsa-miR-593	CLIP-seq
MIRT888368	hsa-miR-631	CLIP-seq
MIRT888369	hsa-miR-650	CLIP-seq
MIRT888370	hsa-miR-766	CLIP-seq
MIRT888371	hsa-miR-767-3p	CLIP-seq
MIRT888372	hsa-miR-875-3p	CLIP-seq
MIRT888373	hsa-miR-92a	CLIP-seq
MIRT888374	hsa-miR-92b	CLIP-seq
MIRT888295	hsa-miR-1229	CLIP-seq
MIRT888296	hsa-miR-1236	CLIP-seq
MIRT1963327	hsa-miR-1255a	CLIP-seq
MIRT1963328	hsa-miR-1255b	CLIP-seq
MIRT1963329	hsa-miR-125b	CLIP-seq
MIRT1963330	hsa-miR-1268	CLIP-seq
MIRT1963331	hsa-miR-1268b	CLIP-seq
MIRT888298	hsa-miR-1321	CLIP-seq
MIRT1963332	hsa-miR-1324	CLIP-seq
MIRT1963333	hsa-miR-15a	CLIP-seq
MIRT1963334	hsa-miR-15b	CLIP-seq
MIRT1963335	hsa-miR-16	CLIP-seq
MIRT1963336	hsa-miR-195	CLIP-seq
MIRT1963337	hsa-miR-214	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT888305	hsa-miR-219-5p	CLIP-seq
MIRT1963338	hsa-miR-22	CLIP-seq
MIRT1963339	hsa-miR-24	CLIP-seq
MIRT888306	hsa-miR-2467-3p	CLIP-seq
MIRT888307	hsa-miR-25	CLIP-seq
MIRT1963340	hsa-miR-3183	CLIP-seq
MIRT888316	hsa-miR-32	CLIP-seq
MIRT888317	hsa-miR-33a	CLIP-seq
MIRT888318	hsa-miR-33b	CLIP-seq
MIRT888320	hsa-miR-34b	CLIP-seq
MIRT1963341	hsa-miR-3605-5p	CLIP-seq
MIRT888322	hsa-miR-3612	CLIP-seq
MIRT888323	hsa-miR-3614-5p	CLIP-seq
MIRT1963342	hsa-miR-3619-5p	CLIP-seq
MIRT888324	hsa-miR-363	CLIP-seq
MIRT1963343	hsa-miR-3652	CLIP-seq
MIRT888326	hsa-miR-3661	CLIP-seq
MIRT888328	hsa-miR-367	CLIP-seq
MIRT1963344	hsa-miR-3909	CLIP-seq
MIRT1963345	hsa-miR-424	CLIP-seq
MIRT1963346	hsa-miR-4256	CLIP-seq
MIRT888333	hsa-miR-4257	CLIP-seq
MIRT888335	hsa-miR-4270	CLIP-seq
MIRT1963347	hsa-miR-4284	CLIP-seq
MIRT1963348	hsa-miR-4287	CLIP-seq
MIRT1963349	hsa-miR-4319	CLIP-seq
MIRT1963350	hsa-miR-4430	CLIP-seq
MIRT888338	hsa-miR-4433	CLIP-seq
MIRT1963351	hsa-miR-4434	CLIP-seq
MIRT888340	hsa-miR-4441	CLIP-seq
MIRT888341	hsa-miR-4445	CLIP-seq
MIRT1963352	hsa-miR-4469	CLIP-seq
MIRT1963353	hsa-miR-4486	CLIP-seq
MIRT1963354	hsa-miR-4505	CLIP-seq
MIRT1963355	hsa-miR-4516	CLIP-seq
MIRT1963356	hsa-miR-4685-3p	CLIP-seq
MIRT888347	hsa-miR-4700-3p	CLIP-seq
MIRT1963357	hsa-miR-4704-3p	CLIP-seq
MIRT888350	hsa-miR-4722-5p	CLIP-seq
MIRT1963358	hsa-miR-4723-3p	CLIP-seq
MIRT1963359	hsa-miR-4731-3p	CLIP-seq
MIRT1963360	hsa-miR-4732-3p	CLIP-seq
MIRT888352	hsa-miR-4739	CLIP-seq
MIRT888353	hsa-miR-4756-5p	CLIP-seq
MIRT1963361	hsa-miR-4778-5p	CLIP-seq
MIRT888355	hsa-miR-4782-3p	CLIP-seq
MIRT1963362	hsa-miR-4801	CLIP-seq
MIRT1963363	hsa-miR-4802-3p	CLIP-seq
MIRT1963364	hsa-miR-488	CLIP-seq
MIRT1963365	hsa-miR-497	CLIP-seq
MIRT888357	hsa-miR-508-3p	CLIP-seq
MIRT1963366	hsa-miR-513a-5p	CLIP-seq
MIRT1963367	hsa-miR-585	CLIP-seq
MIRT1963368	hsa-miR-591	CLIP-seq
MIRT888367	hsa-miR-593	CLIP-seq
MIRT888368	hsa-miR-631	CLIP-seq
MIRT888369	hsa-miR-650	CLIP-seq
MIRT1963369	hsa-miR-670	CLIP-seq
MIRT1963370	hsa-miR-761	CLIP-seq
MIRT888373	hsa-miR-92a	CLIP-seq
MIRT888374	hsa-miR-92b	CLIP-seq
MIRT1963371	hsa-miR-942	CLIP-seq
MIRT888296	hsa-miR-1236	CLIP-seq
MIRT2199780	hsa-miR-1256	CLIP-seq
MIRT1963329	hsa-miR-125b	CLIP-seq
MIRT1963330	hsa-miR-1268	CLIP-seq
MIRT1963331	hsa-miR-1268b	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT888305	hsa-miR-219-5p	CLIP-seq
MIRT1963338	hsa-miR-22	CLIP-seq
MIRT2199781	hsa-miR-224	CLIP-seq
MIRT2199782	hsa-miR-23a	CLIP-seq
MIRT2199783	hsa-miR-23b	CLIP-seq
MIRT2199784	hsa-miR-23c	CLIP-seq
MIRT1963339	hsa-miR-24	CLIP-seq
MIRT888307	hsa-miR-25	CLIP-seq
MIRT888309	hsa-miR-297	CLIP-seq
MIRT888310	hsa-miR-3133	CLIP-seq
MIRT2199785	hsa-miR-3144-3p	CLIP-seq
MIRT888313	hsa-miR-3187-3p	CLIP-seq
MIRT888316	hsa-miR-32	CLIP-seq
MIRT888317	hsa-miR-33a	CLIP-seq
MIRT888318	hsa-miR-33b	CLIP-seq
MIRT888324	hsa-miR-363	CLIP-seq
MIRT1963343	hsa-miR-3652	CLIP-seq
MIRT888328	hsa-miR-367	CLIP-seq
MIRT2199786	hsa-miR-3674	CLIP-seq
MIRT2199787	hsa-miR-3679-3p	CLIP-seq
MIRT2199788	hsa-miR-3973	CLIP-seq
MIRT888331	hsa-miR-3978	CLIP-seq
MIRT1963347	hsa-miR-4284	CLIP-seq
MIRT1963348	hsa-miR-4287	CLIP-seq
MIRT1963349	hsa-miR-4319	CLIP-seq
MIRT888337	hsa-miR-4325	CLIP-seq
MIRT1963350	hsa-miR-4430	CLIP-seq
MIRT888338	hsa-miR-4433	CLIP-seq
MIRT888339	hsa-miR-4435	CLIP-seq
MIRT888341	hsa-miR-4445	CLIP-seq
MIRT1963352	hsa-miR-4469	CLIP-seq
MIRT1963353	hsa-miR-4486	CLIP-seq
MIRT1963354	hsa-miR-4505	CLIP-seq
MIRT888344	hsa-miR-4529-5p	CLIP-seq
MIRT1963356	hsa-miR-4685-3p	CLIP-seq
MIRT888348	hsa-miR-4701-5p	CLIP-seq
MIRT1963357	hsa-miR-4704-3p	CLIP-seq
MIRT2199789	hsa-miR-4717-3p	CLIP-seq
MIRT1963359	hsa-miR-4731-3p	CLIP-seq
MIRT1963360	hsa-miR-4732-3p	CLIP-seq
MIRT888354	hsa-miR-4779	CLIP-seq
MIRT888355	hsa-miR-4782-3p	CLIP-seq
MIRT1963362	hsa-miR-4801	CLIP-seq
MIRT1963363	hsa-miR-4802-3p	CLIP-seq
MIRT888357	hsa-miR-508-3p	CLIP-seq
MIRT888358	hsa-miR-508-5p	CLIP-seq
MIRT2199790	hsa-miR-520g	CLIP-seq
MIRT2199791	hsa-miR-520h	CLIP-seq
MIRT888362	hsa-miR-548s	CLIP-seq
MIRT888364	hsa-miR-567	CLIP-seq
MIRT1963367	hsa-miR-585	CLIP-seq
MIRT888366	hsa-miR-588	CLIP-seq
MIRT888367	hsa-miR-593	CLIP-seq
MIRT2199792	hsa-miR-619	CLIP-seq
MIRT888370	hsa-miR-766	CLIP-seq
MIRT888372	hsa-miR-875-3p	CLIP-seq
MIRT2199793	hsa-miR-875-5p	CLIP-seq
MIRT888373	hsa-miR-92a	CLIP-seq
MIRT888374	hsa-miR-92b	CLIP-seq
MIRT2199794	hsa-miR-95	CLIP-seq
MIRT2385996	hsa-miR-2355-5p	CLIP-seq
MIRT2385997	hsa-miR-4530	CLIP-seq
MIRT2385998	hsa-miR-503	CLIP-seq
MIRT2446978	hsa-miR-186	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT2446979	hsa-miR-371-5p	CLIP-seq
MIRT2446980	hsa-miR-371b-5p	CLIP-seq
MIRT888351	hsa-miR-4738-3p	CLIP-seq
MIRT888298	hsa-miR-1321	CLIP-seq
MIRT2502429	hsa-miR-1912	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT888306	hsa-miR-2467-3p	CLIP-seq
MIRT2502430	hsa-miR-3130-5p	CLIP-seq
MIRT888320	hsa-miR-34b	CLIP-seq
MIRT2502431	hsa-miR-3545-3p	CLIP-seq
MIRT2502432	hsa-miR-3607-5p	CLIP-seq
MIRT888322	hsa-miR-3612	CLIP-seq
MIRT888323	hsa-miR-3614-5p	CLIP-seq
MIRT888333	hsa-miR-4257	CLIP-seq
MIRT888335	hsa-miR-4270	CLIP-seq
MIRT888338	hsa-miR-4433	CLIP-seq
MIRT888340	hsa-miR-4441	CLIP-seq
MIRT2502433	hsa-miR-4482	CLIP-seq
MIRT888350	hsa-miR-4722-5p	CLIP-seq
MIRT888352	hsa-miR-4739	CLIP-seq
MIRT888353	hsa-miR-4756-5p	CLIP-seq
MIRT1963368	hsa-miR-591	CLIP-seq
MIRT888369	hsa-miR-650	CLIP-seq
MIRT888298	hsa-miR-1321	CLIP-seq
MIRT888303	hsa-miR-216a	CLIP-seq
MIRT888304	hsa-miR-216b	CLIP-seq
MIRT888306	hsa-miR-2467-3p	CLIP-seq
MIRT888320	hsa-miR-34b	CLIP-seq
MIRT888322	hsa-miR-3612	CLIP-seq
MIRT888323	hsa-miR-3614-5p	CLIP-seq
MIRT888333	hsa-miR-4257	CLIP-seq
MIRT888335	hsa-miR-4270	CLIP-seq
MIRT888338	hsa-miR-4433	CLIP-seq
MIRT888340	hsa-miR-4441	CLIP-seq
MIRT2678076	hsa-miR-4662a-5p	CLIP-seq
MIRT888345	hsa-miR-4676-5p	CLIP-seq
MIRT888350	hsa-miR-4722-5p	CLIP-seq
MIRT888352	hsa-miR-4739	CLIP-seq
MIRT888353	hsa-miR-4756-5p	CLIP-seq
MIRT888365	hsa-miR-575	CLIP-seq
MIRT888369	hsa-miR-650	CLIP-seq

Gene ontology (GO) Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20936779, 22891260, 25753039, 28514442, 33961781, 36931259
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007015	Process	Actin filament organization	IMP	22891260
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0032991	Component	Protein-containing complex	IDA	25753039
GO:0043296	Component	Apical junction complex	IEA
GO:0051058	Process	Negative regulation of small GTPase mediated signal transduction	IMP	22891260
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	25753039
GO:0070161	Component	Anchoring junction	IEA
GO:0150105	Process	Protein localization to cell-cell junction	IBA
GO:0150105	Process	Protein localization to cell-cell junction	IMP	25753039

Other IDs

• MIM: 607856
• HGNC: 25931
• e!Ensembl: ENSG00000128849

Protein

• UniProt ID: Q0VF96
• Protein name: Cingulin-like protein 1 (Junction-associated coiled-coil protein) (Paracingulin)
• Protein function: May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01576	Myosin_tail_1	1015 → 1257	Myosin tail	Coiled-coil
  PF01576	Myosin_tail_1	576 → 1042	Myosin tail	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Smooth muscle, spleen, testis, fetal brain, amygdala, corpus callosum, cerebellum, thalamus and subthalamic nucleus of adult brain. {ECO:0000269|PubMed:11214970}.
• Sequence:

  MELYFGEYQHVQQEYGVHLRLASDDTQKSRSSQNSKAGSYGVSIRVQGIDGHPYIVLNNT
  ERCLAGTSFSENGPPFPPPVINNLPLHSSNGSVPKENSEELQLPENPYAQPSPIRNLKQP
  LLHEGKNGVLDRKDGSVKPSHLLNFQRHPELLQPYDPEKNELNLQNHQPSESNWLKTLTE
  EGINNKKPWTCFPKPSNSQPTSPSLEDPAKSGVTAIRLCSSVVIEDPKKQTSVCVNVQSC
  TKERVGEEALFTSGRPLTAHSPHAHPETKKTRPDVLPFRRQDSAGPVLDGARSRRSSSSS
  TTPTSANSLYRFLLDDQECAIHADNVNRHENRRYIPFLPGTGRDIDTGSIPGVDQLIEKF
  DQKPGLQRRGRSGKRNRINTDDRKRSRSVDSAFPFGLQGNSEYLIEFSRNLGKSSEHLLR
  PSQVCPQRPLSQERRGKQSVGRTFAKLQGAAHGASCAHSRPPQPNIDGKVLETEGSQEST
  VIRAPSLGAQSKKEEEVKTATATLMLQNRATATSPDSGAKKISVKTFPSASNTQATPDLL
  KGQQELTQQTNEETAKQILYNYLKEGSTDNDDATKRKVNLVFEKIQTLKSRAAGSAQGNN
  QACNSTSEVKDLLEQKSKLTIEVAELQRQLQLEVKNQQNIKEERERMRANLEELRSQHNE
  KVEENSTLQQRLEESEGELRKNLEELFQVKMEREQHQTEIRDLQDQLSEMHDELDSAKRS
  EDREKGALIEELLQAKQDLQDLLIAKEEQEDLLRKRERELTALKGALKEEVSSHDQEMDK
  LKEQYDAELQALRESVEEATKNVEVLASRSNTSEQDQAGTEMRVKLLQEENEKLQGRSEE
  LERRVAQLQRQIEDLKGDEAKAKETLKKYEGEIRQLEEALVHARKEEKEAVSARRALENE
  LEAAQGNLSQTTQEQKQLSEKLKEESEQKEQLRRLKNEMENERWHLGKTIEKLQKEMADI
  VEASRTSTLELQNQLDEYKEKNRRELAEMQRQLKEKTLEAEKSRLTAMKMQDEMRLMEEE
  LRDYQRAQDEALTKRQLLEQTLKDLEYELEAKSHLKDDRSRLVKQMEDKVSQLEMELEEE
  RNNSDLLSERISRSREQMEQLRNELLQERAARQDLECDKISLERQNKDLKSRIIHLEGSY
  RSSKEGLVVQMEARIAELEDRLESEERDRANLQLSNRRLERKVKELVMQVDDEHLSLTDQ
  KDQLSLRLKAMKRQVEEAEEEIDRLESSKKKLQRELEEQMDMNEHLQGQLNSMKKDLRLK
  KLPSKVLDDMDDDDDLSTDGGSLYEAPVSYTFSKDSTVASQI

• Sequence length: 1302

Pathways

KEGG Pathway:

Tight junction

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)

Unknown / Other Associations Show/Hide Unknown Diseases (16)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	28416818	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	21305692	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CGNL1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF ESOPHAGUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	30566433	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	32239439	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	38162683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	35893037	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	21305692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	26325594	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36626444	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	38484114	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37980450	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38297362	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39344312	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24163246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24163246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34201353	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RYR3 2 shared diseasesDiabetic neuropathy, Premature ovarian failure 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), Disgenet (Premature ovarian failure) Related via 2 shared diseases including Diabetic neuropathy, Premature ovarian failure — evidence mostly GWAS catalog. NOTCH2 2 shared diseasesDiabetic neuropathy, Premature ovarian failure 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), Disgenet (Premature ovarian failure) Related via 2 shared diseases including Diabetic neuropathy, Premature ovarian failure — evidence mostly GWAS catalog. CDKAL1 2 shared diseasesCongenital esophageal anomaly, Diabetic neuropathy 2 shared evidence sourcesDisgenet (Congenital esophageal anomaly), GWAS catalog (Diabetic neuropathy) Related via 2 shared diseases including Congenital esophageal anomaly, Diabetic neuropathy — evidence mostly Disgenet. RAD51B 2 shared diseasesDiabetic neuropathy, Premature ovarian failure 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), Disgenet (Premature ovarian failure) Related via 2 shared diseases including Diabetic neuropathy, Premature ovarian failure — evidence mostly GWAS catalog. KDR 2 shared diseasesDiabetic neuropathy, Premature ovarian failure 1 shared evidence sourceDisgenet (Premature ovarian failure) Related via 2 shared diseases including Diabetic neuropathy, Premature ovarian failure — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RYR3	2	["Diabetic neuropathy","Premature ovarian failure"]	0	[]	2	["GWAS catalog (Diabetic neuropathy)","Disgenet (Premature ovarian failure)"]
NOTCH2	2	["Diabetic neuropathy","Premature ovarian failure"]	0	[]	2	["GWAS catalog (Diabetic neuropathy)","Disgenet (Premature ovarian failure)"]
CDKAL1	2	["Congenital esophageal anomaly","Diabetic neuropathy"]	0	[]	2	["Disgenet (Congenital esophageal anomaly)","GWAS catalog (Diabetic neuropathy)"]
RAD51B	2	["Diabetic neuropathy","Premature ovarian failure"]	0	[]	2	["GWAS catalog (Diabetic neuropathy)","Disgenet (Premature ovarian failure)"]
KDR	2	["Diabetic neuropathy","Premature ovarian failure"]	0	[]	1	["Disgenet (Premature ovarian failure)"]

Diseases Linked via Similar Genes

Breast cancer Linked via 4 of 5 related genesRYR3, NOTCH2, CDKAL1, RAD51B Breast neoplasms Linked via 3 of 5 related genesNOTCH2, RAD51B, KDR Glioblastoma Linked via 3 of 5 related genesNOTCH2, CDKAL1, RAD51B Major depressive disorder Linked via 3 of 5 related genesCDKAL1, RAD51B, KDR Color vision deficiency Linked via 2 of 5 related genesRYR3, RAD51B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	4	["RYR3","NOTCH2","CDKAL1","RAD51B"]
Breast neoplasms	3	["NOTCH2","RAD51B","KDR"]
Glioblastoma	3	["NOTCH2","CDKAL1","RAD51B"]
Major depressive disorder	3	["CDKAL1","RAD51B","KDR"]
Color vision deficiency	2	["RYR3","RAD51B"]