TTC39B (tetratricopeptide repeat domain 39B)

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

Gene

• Entrez ID: 158219
• Gene name: Tetratricopeptide repeat domain 39B
• Gene symbol: TTC39B
• Synonyms (NCBI Gene): C9orf52
• Chromosome: 9
• Chromosome location: 9p22.3

miRNA Show/Hide all (240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018991	hsa-miR-335-5p	Microarray	18185580
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT679003	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT679002	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT679001	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT679000	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678999	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678998	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678997	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT652072	hsa-miR-4517	HITS-CLIP	23824327
MIRT652071	hsa-miR-425-5p	HITS-CLIP	23824327
MIRT652070	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652068	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT652069	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT652067	hsa-miR-3117-5p	HITS-CLIP	23824327
MIRT652066	hsa-miR-623	HITS-CLIP	23824327
MIRT652065	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT652064	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT652062	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT652063	hsa-miR-4760-5p	HITS-CLIP	23824327
MIRT652061	hsa-miR-8061	HITS-CLIP	23824327
MIRT652060	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT652059	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541696	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT452404	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT452403	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452402	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452400	hsa-miR-4257	PAR-CLIP	23592263
MIRT452401	hsa-miR-4459	PAR-CLIP	23592263
MIRT452399	hsa-miR-665	PAR-CLIP	23592263
MIRT452398	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT452397	hsa-miR-1827	PAR-CLIP	23592263
MIRT452396	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT452395	hsa-miR-6086	PAR-CLIP	23592263
MIRT452394	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452393	hsa-miR-3612	PAR-CLIP	23592263
MIRT452392	hsa-miR-650	PAR-CLIP	23592263
MIRT452391	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT679003	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT679002	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT679001	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT679000	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678999	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678998	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678997	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT652072	hsa-miR-4517	HITS-CLIP	23824327
MIRT652071	hsa-miR-425-5p	HITS-CLIP	23824327
MIRT652070	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652068	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT652069	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT652067	hsa-miR-3117-5p	HITS-CLIP	23824327
MIRT652066	hsa-miR-623	HITS-CLIP	23824327
MIRT652065	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT652064	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT652062	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT652063	hsa-miR-4760-5p	HITS-CLIP	23824327
MIRT652061	hsa-miR-8061	HITS-CLIP	23824327
MIRT652060	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT652059	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT652058	hsa-miR-1288-5p	HITS-CLIP	23824327
MIRT652057	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652056	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT652055	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT652054	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT652053	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT652052	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT652051	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT652050	hsa-miR-7977	HITS-CLIP	23824327
MIRT652049	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT652048	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT652047	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT652046	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT652045	hsa-miR-3122	HITS-CLIP	23824327
MIRT652044	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT652043	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT652042	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT541695	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT541694	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT541696	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT541696	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT541695	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT541694	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT452404	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT452403	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452402	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452400	hsa-miR-4257	PAR-CLIP	23592263
MIRT452401	hsa-miR-4459	PAR-CLIP	23592263
MIRT452399	hsa-miR-665	PAR-CLIP	23592263
MIRT452398	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT452397	hsa-miR-1827	PAR-CLIP	23592263
MIRT452396	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT452395	hsa-miR-6086	PAR-CLIP	23592263
MIRT452394	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452393	hsa-miR-3612	PAR-CLIP	23592263
MIRT452392	hsa-miR-650	PAR-CLIP	23592263
MIRT452391	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT1461580	hsa-miR-128	CLIP-seq
MIRT1461581	hsa-miR-24	CLIP-seq
MIRT1461582	hsa-miR-27a	CLIP-seq
MIRT1461583	hsa-miR-27b	CLIP-seq
MIRT1461584	hsa-miR-3065-5p	CLIP-seq
MIRT1461585	hsa-miR-4284	CLIP-seq
MIRT1461586	hsa-miR-4670-3p	CLIP-seq
MIRT1461587	hsa-miR-606	CLIP-seq
MIRT1461588	hsa-miR-642b	CLIP-seq
MIRT1461589	hsa-miR-1224-5p	CLIP-seq
MIRT1461590	hsa-miR-3148	CLIP-seq
MIRT1461591	hsa-miR-3915	CLIP-seq
MIRT1461592	hsa-miR-3928	CLIP-seq
MIRT1461593	hsa-miR-4689	CLIP-seq
MIRT1461594	hsa-miR-23a	CLIP-seq
MIRT1461595	hsa-miR-23b	CLIP-seq
MIRT1461596	hsa-miR-23c	CLIP-seq
MIRT1461597	hsa-miR-323-3p	CLIP-seq
MIRT1461598	hsa-miR-4528	CLIP-seq
MIRT1461599	hsa-miR-4775	CLIP-seq
MIRT1461600	hsa-miR-5096	CLIP-seq
MIRT1461601	hsa-miR-590-3p	CLIP-seq
MIRT2138721	hsa-miR-4457	CLIP-seq
MIRT2138722	hsa-miR-513b	CLIP-seq
MIRT2138723	hsa-miR-593	CLIP-seq
MIRT1461580	hsa-miR-128	CLIP-seq
MIRT2694438	hsa-miR-4279	CLIP-seq
MIRT2694439	hsa-miR-4506	CLIP-seq
MIRT2694440	hsa-miR-4509	CLIP-seq
MIRT2694441	hsa-miR-548m	CLIP-seq
MIRT1461588	hsa-miR-642b	CLIP-seq

Gene ontology (GO) Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0006629	Process	Lipid metabolic process	IEA
GO:0010874	Process	Regulation of cholesterol efflux	IBA
GO:0010874	Process	Regulation of cholesterol efflux	ISS
GO:0010887	Process	Negative regulation of cholesterol storage	IBA
GO:0010887	Process	Negative regulation of cholesterol storage	ISS
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0090181	Process	Regulation of cholesterol metabolic process	IBA
GO:0090181	Process	Regulation of cholesterol metabolic process	ISS

Other IDs

• MIM: 613574
• HGNC: 23704
• e!Ensembl: ENSG00000155158

Protein

• UniProt ID: Q5VTQ0
• Protein name: Tetratricopeptide repeat protein 39B (TPR repeat protein 39B)
• Protein function: Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10300	DUF3808	140 → 598	Protein of unknown function (DUF3808)	Family

• Sequence:

  MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGG
  SSQRRNMALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGAS
  TVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQA
  VLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYA
  ECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGG
  VKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAF
  HTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCI
  SVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLP
  EEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEM
  MYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQR
  PLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYS
  LESRLHFRIQAALHLWRKPSSD

• Sequence length: 682

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 (26)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	20889312, 22925353, 34099189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	30504769, 34594039, 34651315, 37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	29212778	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	30504769, 34651315	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	33654266	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	20889312	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	20889312	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	32752121	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cholelithiasis	Cholecystolithiasis	Pubtator	39840844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27453397		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	27453397	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31396961		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	40102553	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATG16L2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. DDX17 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. FRAT2 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. GPR61 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog. IRF2BP1 2 shared diseasesCholecystolithiasis, Gallstones 2 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Gallstones) Related via 2 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATG16L2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
DDX17	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
FRAT2	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
GPR61	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]
IRF2BP1	2	["Cholecystolithiasis","Gallstones"]	0	[]	2	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Gallstones)"]

Diseases Linked via Similar Genes

Osteoarthritis Linked via 1 of 5 related genesIRF2BP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Osteoarthritis	1	["IRF2BP1"]