CBY1 (chibby 1, beta catenin antagonist)

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

Gene

• Entrez ID: 25776
• Gene name: Chibby 1, beta catenin antagonist
• Gene symbol: CBY1
• Synonyms (NCBI Gene): C22orf2, CBY, Chibby1, HS508I15A, PGEA1, PIGEA-14, PIGEA14, arb1
• Chromosome: 22
• Chromosome location: 22q13.1
• Summary: Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcri

miRNA Show/Hide all (271)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029177	hsa-miR-26b-5p	Microarray	19088304
MIRT047988	hsa-miR-30c-5p	CLASH	23622248
MIRT552287	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT087870	hsa-miR-548n	PAR-CLIP	20371350
MIRT087867	hsa-miR-562	PAR-CLIP	20371350
MIRT552286	hsa-miR-1244	PAR-CLIP	20371350
MIRT087864	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT087866	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT087865	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT087869	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT087872	hsa-miR-3666	PAR-CLIP	20371350
MIRT087871	hsa-miR-4295	PAR-CLIP	20371350
MIRT087868	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT552285	hsa-miR-4255	PAR-CLIP	20371350
MIRT087849	hsa-miR-138-5p	PAR-CLIP	20371350
MIRT564524	hsa-miR-4533	PAR-CLIP	20371350
MIRT552284	hsa-miR-3202	PAR-CLIP	20371350
MIRT087862	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT087863	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT087853	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT564523	hsa-miR-3143	PAR-CLIP	20371350
MIRT087873	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT552283	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT087861	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT552282	hsa-miR-4752	PAR-CLIP	20371350
MIRT564522	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT552287	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT087870	hsa-miR-548n	PAR-CLIP	21572407
MIRT087867	hsa-miR-562	PAR-CLIP	21572407
MIRT552286	hsa-miR-1244	PAR-CLIP	21572407
MIRT087864	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT087866	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT087865	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT087869	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT087872	hsa-miR-3666	PAR-CLIP	21572407
MIRT087871	hsa-miR-4295	PAR-CLIP	21572407
MIRT087868	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT552285	hsa-miR-4255	PAR-CLIP	21572407
MIRT087852	hsa-miR-548q	PAR-CLIP	21572407
MIRT087849	hsa-miR-138-5p	PAR-CLIP	21572407
MIRT087854	hsa-miR-4327	PAR-CLIP	21572407
MIRT552284	hsa-miR-3202	PAR-CLIP	21572407
MIRT087856	hsa-miR-3907	PAR-CLIP	21572407
MIRT087862	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT087863	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT087851	hsa-miR-636	PAR-CLIP	21572407
MIRT087853	hsa-miR-3190-3p	PAR-CLIP	21572407
MIRT087873	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT552283	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT087861	hsa-miR-6833-5p	PAR-CLIP	21572407
MIRT552282	hsa-miR-4752	PAR-CLIP	21572407
MIRT552281	hsa-miR-6829-5p	PAR-CLIP	21572407
MIRT532673	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT532672	hsa-miR-6743-3p	PAR-CLIP	22012620
MIRT532670	hsa-miR-3658	PAR-CLIP	22012620
MIRT552287	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT087870	hsa-miR-548n	PAR-CLIP	20371350
MIRT087867	hsa-miR-562	PAR-CLIP	20371350
MIRT552286	hsa-miR-1244	PAR-CLIP	20371350
MIRT087864	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT087866	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT087865	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT087869	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT087872	hsa-miR-3666	PAR-CLIP	20371350
MIRT087871	hsa-miR-4295	PAR-CLIP	20371350
MIRT087868	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT552285	hsa-miR-4255	PAR-CLIP	20371350
MIRT087849	hsa-miR-138-5p	PAR-CLIP	20371350
MIRT564524	hsa-miR-4533	PAR-CLIP	20371350
MIRT552284	hsa-miR-3202	PAR-CLIP	20371350
MIRT087862	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT087863	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT087853	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT564523	hsa-miR-3143	PAR-CLIP	20371350
MIRT087873	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT552283	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT087861	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT552282	hsa-miR-4752	PAR-CLIP	20371350
MIRT564522	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT552287	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT087870	hsa-miR-548n	PAR-CLIP	21572407
MIRT087867	hsa-miR-562	PAR-CLIP	21572407
MIRT552286	hsa-miR-1244	PAR-CLIP	21572407
MIRT087864	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT087866	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT087865	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT087869	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT087872	hsa-miR-3666	PAR-CLIP	21572407
MIRT087871	hsa-miR-4295	PAR-CLIP	21572407
MIRT087868	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT552285	hsa-miR-4255	PAR-CLIP	21572407
MIRT087852	hsa-miR-548q	PAR-CLIP	21572407
MIRT087849	hsa-miR-138-5p	PAR-CLIP	21572407
MIRT087854	hsa-miR-4327	PAR-CLIP	21572407
MIRT552284	hsa-miR-3202	PAR-CLIP	21572407
MIRT087856	hsa-miR-3907	PAR-CLIP	21572407
MIRT087862	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT087863	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT087851	hsa-miR-636	PAR-CLIP	21572407
MIRT087853	hsa-miR-3190-3p	PAR-CLIP	21572407
MIRT087873	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT552283	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT087861	hsa-miR-6833-5p	PAR-CLIP	21572407
MIRT552282	hsa-miR-4752	PAR-CLIP	21572407
MIRT552281	hsa-miR-6829-5p	PAR-CLIP	21572407
MIRT532673	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT532672	hsa-miR-6743-3p	PAR-CLIP	22012620
MIRT532670	hsa-miR-3658	PAR-CLIP	22012620
MIRT866939	hsa-miR-1294	CLIP-seq
MIRT866940	hsa-miR-130a	CLIP-seq
MIRT866941	hsa-miR-130b	CLIP-seq
MIRT866942	hsa-miR-19a	CLIP-seq
MIRT866943	hsa-miR-19b	CLIP-seq
MIRT866944	hsa-miR-301a	CLIP-seq
MIRT866945	hsa-miR-301b	CLIP-seq
MIRT866946	hsa-miR-3137	CLIP-seq
MIRT866947	hsa-miR-3173-3p	CLIP-seq
MIRT866948	hsa-miR-3190	CLIP-seq
MIRT866949	hsa-miR-3591-3p	CLIP-seq
MIRT866950	hsa-miR-3915	CLIP-seq
MIRT866951	hsa-miR-3928	CLIP-seq
MIRT866952	hsa-miR-3934	CLIP-seq
MIRT866953	hsa-miR-4316	CLIP-seq
MIRT866954	hsa-miR-4476	CLIP-seq
MIRT866955	hsa-miR-454	CLIP-seq
MIRT866956	hsa-miR-4695-5p	CLIP-seq
MIRT866957	hsa-miR-626	CLIP-seq
MIRT1957285	hsa-miR-136	CLIP-seq
MIRT1957286	hsa-miR-4716-5p	CLIP-seq
MIRT866939	hsa-miR-1294	CLIP-seq
MIRT866940	hsa-miR-130a	CLIP-seq
MIRT866941	hsa-miR-130b	CLIP-seq
MIRT1957285	hsa-miR-136	CLIP-seq
MIRT2194251	hsa-miR-150	CLIP-seq
MIRT2194252	hsa-miR-1825	CLIP-seq
MIRT2194253	hsa-miR-193a-5p	CLIP-seq
MIRT866942	hsa-miR-19a	CLIP-seq
MIRT866943	hsa-miR-19b	CLIP-seq
MIRT866944	hsa-miR-301a	CLIP-seq
MIRT866945	hsa-miR-301b	CLIP-seq
MIRT866952	hsa-miR-3934	CLIP-seq
MIRT866953	hsa-miR-4316	CLIP-seq
MIRT2194254	hsa-miR-4528	CLIP-seq
MIRT866955	hsa-miR-454	CLIP-seq
MIRT866956	hsa-miR-4695-5p	CLIP-seq
MIRT2194255	hsa-miR-4713-5p	CLIP-seq
MIRT1957286	hsa-miR-4716-5p	CLIP-seq
MIRT2194256	hsa-miR-4786-3p	CLIP-seq
MIRT2194257	hsa-miR-515-3p	CLIP-seq
MIRT2194258	hsa-miR-515-5p	CLIP-seq
MIRT2194259	hsa-miR-519e	CLIP-seq
MIRT2194260	hsa-miR-532-3p	CLIP-seq
MIRT2194261	hsa-miR-550a	CLIP-seq
MIRT2446273	hsa-miR-148a	CLIP-seq
MIRT2446274	hsa-miR-148b	CLIP-seq
MIRT2194251	hsa-miR-150	CLIP-seq
MIRT2446275	hsa-miR-152	CLIP-seq
MIRT2446276	hsa-miR-2682	CLIP-seq
MIRT2446277	hsa-miR-3123	CLIP-seq
MIRT2446278	hsa-miR-34a	CLIP-seq
MIRT2446279	hsa-miR-34c-5p	CLIP-seq
MIRT866949	hsa-miR-3591-3p	CLIP-seq
MIRT2446280	hsa-miR-3936	CLIP-seq
MIRT2446281	hsa-miR-449a	CLIP-seq
MIRT2446282	hsa-miR-449b	CLIP-seq
MIRT2446283	hsa-miR-449c	CLIP-seq
MIRT2446284	hsa-miR-4514	CLIP-seq
MIRT2446285	hsa-miR-4680-5p	CLIP-seq
MIRT2446286	hsa-miR-4692	CLIP-seq
MIRT2194255	hsa-miR-4713-5p	CLIP-seq
MIRT2446287	hsa-miR-4803	CLIP-seq
MIRT2446288	hsa-miR-508-5p	CLIP-seq
MIRT2194260	hsa-miR-532-3p	CLIP-seq
MIRT2446289	hsa-miR-766	CLIP-seq
MIRT2497662	hsa-miR-1299	CLIP-seq
MIRT2497663	hsa-miR-1302	CLIP-seq
MIRT1957285	hsa-miR-136	CLIP-seq
MIRT2497664	hsa-miR-147	CLIP-seq
MIRT2446273	hsa-miR-148a	CLIP-seq
MIRT2446274	hsa-miR-148b	CLIP-seq
MIRT2194251	hsa-miR-150	CLIP-seq
MIRT2446275	hsa-miR-152	CLIP-seq
MIRT2194252	hsa-miR-1825	CLIP-seq
MIRT2497665	hsa-miR-185	CLIP-seq
MIRT2194253	hsa-miR-193a-5p	CLIP-seq
MIRT2446276	hsa-miR-2682	CLIP-seq
MIRT2497666	hsa-miR-29a	CLIP-seq
MIRT2497667	hsa-miR-29b	CLIP-seq
MIRT2497668	hsa-miR-29c	CLIP-seq
MIRT2446277	hsa-miR-3123	CLIP-seq
MIRT2497669	hsa-miR-3192	CLIP-seq
MIRT2446278	hsa-miR-34a	CLIP-seq
MIRT2446279	hsa-miR-34c-5p	CLIP-seq
MIRT866949	hsa-miR-3591-3p	CLIP-seq
MIRT2497670	hsa-miR-3663-3p	CLIP-seq
MIRT2497671	hsa-miR-3911	CLIP-seq
MIRT2446280	hsa-miR-3936	CLIP-seq
MIRT2497672	hsa-miR-4298	CLIP-seq
MIRT2497673	hsa-miR-4306	CLIP-seq
MIRT2497674	hsa-miR-4314	CLIP-seq
MIRT2446281	hsa-miR-449a	CLIP-seq
MIRT2446282	hsa-miR-449b	CLIP-seq
MIRT2446283	hsa-miR-449c	CLIP-seq
MIRT2497675	hsa-miR-450a	CLIP-seq
MIRT2446284	hsa-miR-4514	CLIP-seq
MIRT2497676	hsa-miR-4644	CLIP-seq
MIRT2497677	hsa-miR-4646-5p	CLIP-seq
MIRT2446285	hsa-miR-4680-5p	CLIP-seq
MIRT2446286	hsa-miR-4692	CLIP-seq
MIRT2194255	hsa-miR-4713-5p	CLIP-seq
MIRT1957286	hsa-miR-4716-5p	CLIP-seq
MIRT2497678	hsa-miR-4737	CLIP-seq
MIRT2497679	hsa-miR-4778-5p	CLIP-seq
MIRT2446287	hsa-miR-4803	CLIP-seq
MIRT2446288	hsa-miR-508-5p	CLIP-seq
MIRT2194257	hsa-miR-515-3p	CLIP-seq
MIRT2194258	hsa-miR-515-5p	CLIP-seq
MIRT2194259	hsa-miR-519e	CLIP-seq
MIRT2194260	hsa-miR-532-3p	CLIP-seq
MIRT2194261	hsa-miR-550a	CLIP-seq
MIRT2497680	hsa-miR-581	CLIP-seq
MIRT2497681	hsa-miR-644	CLIP-seq
MIRT2446289	hsa-miR-766	CLIP-seq
MIRT2497682	hsa-miR-875-3p	CLIP-seq
MIRT2497662	hsa-miR-1299	CLIP-seq
MIRT2497663	hsa-miR-1302	CLIP-seq
MIRT1957285	hsa-miR-136	CLIP-seq
MIRT2497664	hsa-miR-147	CLIP-seq
MIRT2446273	hsa-miR-148a	CLIP-seq
MIRT2446274	hsa-miR-148b	CLIP-seq
MIRT2194251	hsa-miR-150	CLIP-seq
MIRT2446275	hsa-miR-152	CLIP-seq
MIRT2194252	hsa-miR-1825	CLIP-seq
MIRT2497665	hsa-miR-185	CLIP-seq
MIRT2194253	hsa-miR-193a-5p	CLIP-seq
MIRT2446276	hsa-miR-2682	CLIP-seq
MIRT2446277	hsa-miR-3123	CLIP-seq
MIRT2497669	hsa-miR-3192	CLIP-seq
MIRT2446278	hsa-miR-34a	CLIP-seq
MIRT2446279	hsa-miR-34c-5p	CLIP-seq
MIRT866949	hsa-miR-3591-3p	CLIP-seq
MIRT2497671	hsa-miR-3911	CLIP-seq
MIRT2446280	hsa-miR-3936	CLIP-seq
MIRT2497672	hsa-miR-4298	CLIP-seq
MIRT2497673	hsa-miR-4306	CLIP-seq
MIRT2497674	hsa-miR-4314	CLIP-seq
MIRT2446281	hsa-miR-449a	CLIP-seq
MIRT2446282	hsa-miR-449b	CLIP-seq
MIRT2446283	hsa-miR-449c	CLIP-seq
MIRT2497675	hsa-miR-450a	CLIP-seq
MIRT2446284	hsa-miR-4514	CLIP-seq
MIRT2194254	hsa-miR-4528	CLIP-seq
MIRT2497676	hsa-miR-4644	CLIP-seq
MIRT2497677	hsa-miR-4646-5p	CLIP-seq
MIRT2446285	hsa-miR-4680-5p	CLIP-seq
MIRT2446286	hsa-miR-4692	CLIP-seq
MIRT2194255	hsa-miR-4713-5p	CLIP-seq
MIRT1957286	hsa-miR-4716-5p	CLIP-seq
MIRT2497678	hsa-miR-4737	CLIP-seq
MIRT2497679	hsa-miR-4778-5p	CLIP-seq
MIRT2446287	hsa-miR-4803	CLIP-seq
MIRT2446288	hsa-miR-508-5p	CLIP-seq
MIRT2194257	hsa-miR-515-3p	CLIP-seq
MIRT2194258	hsa-miR-515-5p	CLIP-seq
MIRT2194259	hsa-miR-519e	CLIP-seq
MIRT2194260	hsa-miR-532-3p	CLIP-seq
MIRT2194261	hsa-miR-550a	CLIP-seq
MIRT2497680	hsa-miR-581	CLIP-seq
MIRT2497681	hsa-miR-644	CLIP-seq
MIRT2446289	hsa-miR-766	CLIP-seq
MIRT2497682	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15194699, 16424001, 18573912, 19940019, 21182262, 25416956, 27173435, 27528616, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12712206
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	15194699
GO:0005813	Component	Centrosome	IDA
GO:0005814	Component	Centriole	IDA	22911743
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0008013	Function	Beta-catenin binding	IDA	12712206
GO:0008013	Function	Beta-catenin binding	IPI	16424001
GO:0008104	Process	Intracellular protein localization	IMP	15194699
GO:0016607	Component	Nuclear speck	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IBA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	12712206, 16424001
GO:0031514	Component	Motile cilium	IEA
GO:0033504	Process	Floor plate development	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042802	Function	Identical protein binding	IPI	15194699
GO:0042803	Function	Protein homodimerization activity	IDA	21182262
GO:0042995	Component	Cell projection	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12712206
GO:0051289	Process	Protein homotetramerization	IDA	21182262
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA

Other IDs

• MIM: 607757
• HGNC: 1307
• e!Ensembl: ENSG00000100211

Protein

• UniProt ID: Q9Y3M2
• Protein name: Protein chibby homolog 1 (ARPP-binding protein) (Cytosolic leucine-rich protein) (PIGEA-14) (PKD2 interactor, Golgi and endoplasmic reticulum-associated 1)
• Protein function: Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors (PubMed:12712206, PubMed:19435523). Has also been shown to
• PDB: 4WRQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14645	Chibby	1 → 116	Chibby family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher levels in heart, skeletal muscle, kidney and placenta. Also found in brain, lung, liver and testis. Significantly down-regulated in thyroid and metastatic uterine tumors. {ECO:0000269|PubMed:127122
• Sequence:

  MPFFGNTFSPKKTPPRKSASLSNLHSLDRSTREVELGLEYGSPTMNLAGQSLKFENGQWI
  AETGVSGGVDRREVQRLRRRNQQLEEENNLLRLKVDILLDMLSESTAESHLMEKELDELR
  ISRKRK

• Sequence length: 126

Pathways

KEGG Pathway:

Wnt signaling pathway

Reactome Pathway:

Deactivation of the beta-catenin transactivating complex

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
Joubert syndrome	Pathogenic	rs747514855, rs1318058212	RCV001263194 RCV001263195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CILIOPATHIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	33131181	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25175341		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15245581		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15245581	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	18663750		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	LHGDN	18663750		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	25175341, 25838250		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26147002	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24339928, 25389112, 26147002, 29152155		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15245581		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KATNIP 3 shared diseasesCiliopathy, Aplasia of the vermis, Joubert syndrome 3 shared evidence sourcesDisgenet (Ciliopathy), Disgenet (Aplasia of the vermis), Orphanet (Joubert syndrome) Related via 3 shared diseases including Ciliopathy, Aplasia of the vermis — evidence mostly Disgenet. CEP41 3 shared diseasesCiliopathy, Aplasia of the vermis, Joubert syndrome 2 shared evidence sourcesDisgenet (Aplasia of the vermis), Orphanet (Joubert syndrome) Related via 3 shared diseases including Ciliopathy, Aplasia of the vermis — evidence mostly Disgenet. ARL13B 2 shared diseasesAplasia of the vermis, Joubert syndrome 3 shared evidence sourcesDisgenet (Aplasia of the vermis), Orphanet (Joubert syndrome), GWAS catalog (Joubert syndrome) Related via 2 shared diseases including Aplasia of the vermis, Joubert syndrome — evidence mostly Disgenet. PDE6D 3 shared diseasesCiliopathy, Aplasia of the vermis, Joubert syndrome 2 shared evidence sourcesDisgenet (Aplasia of the vermis), Orphanet (Joubert syndrome) Related via 3 shared diseases including Ciliopathy, Aplasia of the vermis — evidence mostly Disgenet. TMEM138 3 shared diseasesCiliopathy, Aplasia of the vermis, Joubert syndrome 4 shared evidence sourcesDisgenet (Ciliopathy), Disgenet (Aplasia of the vermis), Orphanet (Joubert syndrome), GWAS catalog (Joubert syndrome) Related via 3 shared diseases including Ciliopathy, Aplasia of the vermis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KATNIP	3	["Ciliopathy","Aplasia of the vermis","Joubert syndrome"]	0	[]	3	["Disgenet (Ciliopathy)","Disgenet (Aplasia of the vermis)","Orphanet (Joubert syndrome)"]
CEP41	3	["Ciliopathy","Aplasia of the vermis","Joubert syndrome"]	0	[]	2	["Disgenet (Aplasia of the vermis)","Orphanet (Joubert syndrome)"]
ARL13B	2	["Aplasia of the vermis","Joubert syndrome"]	0	[]	3	["Disgenet (Aplasia of the vermis)","Orphanet (Joubert syndrome)","GWAS catalog (Joubert syndrome)"]
PDE6D	3	["Ciliopathy","Aplasia of the vermis","Joubert syndrome"]	0	[]	2	["Disgenet (Aplasia of the vermis)","Orphanet (Joubert syndrome)"]
TMEM138	3	["Ciliopathy","Aplasia of the vermis","Joubert syndrome"]	0	[]	4	["Disgenet (Ciliopathy)","Disgenet (Aplasia of the vermis)","Orphanet (Joubert syndrome)","GWAS catalog (Joubert syndrome)"]

Diseases Linked via Similar Genes

Scoliosis Linked via 1 of 5 related genesKATNIP Autism Linked via 1 of 5 related genesCEP41 Obstructive pulmonary disease Linked via 1 of 5 related genesCEP41 Retinitis pigmentosa Linked via 1 of 5 related genesCEP41 Venous thromboembolism Linked via 1 of 5 related genesCEP41

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Scoliosis	1	["KATNIP"]
Autism	1	["CEP41"]
Obstructive pulmonary disease	1	["CEP41"]
Retinitis pigmentosa	1	["CEP41"]
Venous thromboembolism	1	["CEP41"]