MFHAS1 (multifunctional ROCO family signaling regulator 1)

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

Gene

• Entrez ID: 9258
• Gene name: Multifunctional ROCO family signaling regulator 1
• Gene symbol: MFHAS1
• Synonyms (NCBI Gene): LRRC65, MASL1, ROCO4
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leu

miRNA Show/Hide all (211)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028381	hsa-miR-32-5p	Sequencing	20371350
MIRT029740	hsa-miR-26b-5p	Microarray	19088304
MIRT050879	hsa-miR-17-5p	CLASH	23622248
MIRT050073	hsa-miR-26a-5p	CLASH	23622248
MIRT045976	hsa-miR-125b-5p	CLASH	23622248
MIRT042688	hsa-miR-196b-5p	CLASH	23622248
MIRT037195	hsa-miR-877-3p	CLASH	23622248
MIRT050073	hsa-miR-26a-5p	HITS-CLIP	27418678
MIRT029740	hsa-miR-26b-5p	HITS-CLIP	27418678
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146132	hsa-miR-1245b-3p	CLIP-seq
MIRT1146133	hsa-miR-1253	CLIP-seq
MIRT1146134	hsa-miR-125a-5p	CLIP-seq
MIRT1146135	hsa-miR-125b	CLIP-seq
MIRT1146136	hsa-miR-1260	CLIP-seq
MIRT1146137	hsa-miR-1260b	CLIP-seq
MIRT1146138	hsa-miR-128	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT1146141	hsa-miR-188-3p	CLIP-seq
MIRT1146142	hsa-miR-199a-5p	CLIP-seq
MIRT1146143	hsa-miR-199b-5p	CLIP-seq
MIRT1146144	hsa-miR-223	CLIP-seq
MIRT1146145	hsa-miR-23a	CLIP-seq
MIRT1146146	hsa-miR-23b	CLIP-seq
MIRT1146147	hsa-miR-23c	CLIP-seq
MIRT1146148	hsa-miR-2467-5p	CLIP-seq
MIRT1146149	hsa-miR-25	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146152	hsa-miR-27a	CLIP-seq
MIRT1146153	hsa-miR-27b	CLIP-seq
MIRT1146154	hsa-miR-298	CLIP-seq
MIRT1146155	hsa-miR-3120-3p	CLIP-seq
MIRT1146156	hsa-miR-3130-5p	CLIP-seq
MIRT1146157	hsa-miR-3137	CLIP-seq
MIRT1146158	hsa-miR-3149	CLIP-seq
MIRT1146159	hsa-miR-3156-3p	CLIP-seq
MIRT1146160	hsa-miR-3167	CLIP-seq
MIRT1146161	hsa-miR-3177-3p	CLIP-seq
MIRT1146162	hsa-miR-3188	CLIP-seq
MIRT1146163	hsa-miR-3189-3p	CLIP-seq
MIRT1146164	hsa-miR-32	CLIP-seq
MIRT1146165	hsa-miR-3614-3p	CLIP-seq
MIRT1146166	hsa-miR-363	CLIP-seq
MIRT1146167	hsa-miR-367	CLIP-seq
MIRT1146168	hsa-miR-3672	CLIP-seq
MIRT1146169	hsa-miR-3688-3p	CLIP-seq
MIRT1146170	hsa-miR-3908	CLIP-seq
MIRT1146171	hsa-miR-3934	CLIP-seq
MIRT1146172	hsa-miR-3942-3p	CLIP-seq
MIRT1146173	hsa-miR-3975	CLIP-seq
MIRT1146174	hsa-miR-4251	CLIP-seq
MIRT1146175	hsa-miR-4274	CLIP-seq
MIRT1146176	hsa-miR-4277	CLIP-seq
MIRT1146177	hsa-miR-4297	CLIP-seq
MIRT1146178	hsa-miR-4302	CLIP-seq
MIRT1146179	hsa-miR-4319	CLIP-seq
MIRT1146180	hsa-miR-432	CLIP-seq
MIRT1146181	hsa-miR-4324	CLIP-seq
MIRT1146182	hsa-miR-4328	CLIP-seq
MIRT1146183	hsa-miR-4443	CLIP-seq
MIRT1146184	hsa-miR-4448	CLIP-seq
MIRT1146185	hsa-miR-4482	CLIP-seq
MIRT1146186	hsa-miR-455-5p	CLIP-seq
MIRT1146187	hsa-miR-4649-3p	CLIP-seq
MIRT1146188	hsa-miR-4668-3p	CLIP-seq
MIRT1146189	hsa-miR-4732-3p	CLIP-seq
MIRT1146190	hsa-miR-4753-3p	CLIP-seq
MIRT1146191	hsa-miR-4786-3p	CLIP-seq
MIRT1146192	hsa-miR-4789-5p	CLIP-seq
MIRT1146193	hsa-miR-485-5p	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT1146197	hsa-miR-548g	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146200	hsa-miR-570	CLIP-seq
MIRT1146201	hsa-miR-605	CLIP-seq
MIRT1146202	hsa-miR-642a	CLIP-seq
MIRT1146203	hsa-miR-670	CLIP-seq
MIRT1146204	hsa-miR-7	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146206	hsa-miR-876-5p	CLIP-seq
MIRT1146207	hsa-miR-92a	CLIP-seq
MIRT1146208	hsa-miR-92b	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146150	hsa-miR-26a	CLIP-seq
MIRT1146151	hsa-miR-26b	CLIP-seq
MIRT1146198	hsa-miR-562	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT2041546	hsa-miR-1224-3p	CLIP-seq
MIRT1146133	hsa-miR-1253	CLIP-seq
MIRT1146134	hsa-miR-125a-5p	CLIP-seq
MIRT1146135	hsa-miR-125b	CLIP-seq
MIRT2041547	hsa-miR-1276	CLIP-seq
MIRT2041548	hsa-miR-1283	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT2041549	hsa-miR-1911	CLIP-seq
MIRT2041550	hsa-miR-2277-3p	CLIP-seq
MIRT2041551	hsa-miR-3136-3p	CLIP-seq
MIRT1146157	hsa-miR-3137	CLIP-seq
MIRT1146160	hsa-miR-3167	CLIP-seq
MIRT1146161	hsa-miR-3177-3p	CLIP-seq
MIRT2041552	hsa-miR-3189-5p	CLIP-seq
MIRT2041553	hsa-miR-3190	CLIP-seq
MIRT2041554	hsa-miR-3194-3p	CLIP-seq
MIRT2041555	hsa-miR-3202	CLIP-seq
MIRT2041556	hsa-miR-328	CLIP-seq
MIRT2041557	hsa-miR-3618	CLIP-seq
MIRT1146174	hsa-miR-4251	CLIP-seq
MIRT1146179	hsa-miR-4319	CLIP-seq
MIRT1146181	hsa-miR-4324	CLIP-seq
MIRT2041558	hsa-miR-4491	CLIP-seq
MIRT2041559	hsa-miR-4533	CLIP-seq
MIRT1146186	hsa-miR-455-5p	CLIP-seq
MIRT2041560	hsa-miR-4639-3p	CLIP-seq
MIRT2041561	hsa-miR-4657	CLIP-seq
MIRT1146188	hsa-miR-4668-3p	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2041563	hsa-miR-4728-3p	CLIP-seq
MIRT1146189	hsa-miR-4732-3p	CLIP-seq
MIRT1146191	hsa-miR-4786-3p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT2041565	hsa-miR-493	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146200	hsa-miR-570	CLIP-seq
MIRT2041566	hsa-miR-576-3p	CLIP-seq
MIRT1146201	hsa-miR-605	CLIP-seq
MIRT1146203	hsa-miR-670	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146206	hsa-miR-876-5p	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146138	hsa-miR-128	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT1146142	hsa-miR-199a-5p	CLIP-seq
MIRT1146143	hsa-miR-199b-5p	CLIP-seq
MIRT2271158	hsa-miR-200b	CLIP-seq
MIRT2271159	hsa-miR-200c	CLIP-seq
MIRT1146145	hsa-miR-23a	CLIP-seq
MIRT1146146	hsa-miR-23b	CLIP-seq
MIRT1146147	hsa-miR-23c	CLIP-seq
MIRT1146152	hsa-miR-27a	CLIP-seq
MIRT1146153	hsa-miR-27b	CLIP-seq
MIRT2041552	hsa-miR-3189-5p	CLIP-seq
MIRT2271160	hsa-miR-3200-5p	CLIP-seq
MIRT2041556	hsa-miR-328	CLIP-seq
MIRT2271161	hsa-miR-3612	CLIP-seq
MIRT1146169	hsa-miR-3688-3p	CLIP-seq
MIRT1146176	hsa-miR-4277	CLIP-seq
MIRT2271162	hsa-miR-429	CLIP-seq
MIRT1146178	hsa-miR-4302	CLIP-seq
MIRT2271163	hsa-miR-4303	CLIP-seq
MIRT2271164	hsa-miR-4426	CLIP-seq
MIRT2271165	hsa-miR-4432	CLIP-seq
MIRT2271166	hsa-miR-4495	CLIP-seq
MIRT2271167	hsa-miR-4647	CLIP-seq
MIRT1146187	hsa-miR-4649-3p	CLIP-seq
MIRT2271168	hsa-miR-4662b	CLIP-seq
MIRT2271169	hsa-miR-4682	CLIP-seq
MIRT2271170	hsa-miR-4695-5p	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2271171	hsa-miR-4799-5p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT1146194	hsa-miR-513a-3p	CLIP-seq
MIRT1146197	hsa-miR-548g	CLIP-seq
MIRT2271172	hsa-miR-548u	CLIP-seq
MIRT1146199	hsa-miR-568	CLIP-seq
MIRT1146202	hsa-miR-642a	CLIP-seq
MIRT2271173	hsa-miR-650	CLIP-seq
MIRT1146205	hsa-miR-765	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT2271158	hsa-miR-200b	CLIP-seq
MIRT2271159	hsa-miR-200c	CLIP-seq
MIRT2271162	hsa-miR-429	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2271171	hsa-miR-4799-5p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT1146131	hsa-miR-1183	CLIP-seq
MIRT1146139	hsa-miR-135a	CLIP-seq
MIRT1146140	hsa-miR-135b	CLIP-seq
MIRT2041562	hsa-miR-4715-3p	CLIP-seq
MIRT2041564	hsa-miR-486-5p	CLIP-seq
MIRT2041547	hsa-miR-1276	CLIP-seq
MIRT2041548	hsa-miR-1283	CLIP-seq
MIRT2041550	hsa-miR-2277-3p	CLIP-seq
MIRT2041553	hsa-miR-3190	CLIP-seq
MIRT2041554	hsa-miR-3194-3p	CLIP-seq
MIRT2041555	hsa-miR-3202	CLIP-seq
MIRT2041557	hsa-miR-3618	CLIP-seq
MIRT2041558	hsa-miR-4491	CLIP-seq
MIRT2041559	hsa-miR-4533	CLIP-seq
MIRT2041561	hsa-miR-4657	CLIP-seq
MIRT2041565	hsa-miR-493	CLIP-seq
MIRT1146195	hsa-miR-520d-5p	CLIP-seq
MIRT1146196	hsa-miR-524-5p	CLIP-seq
MIRT2041566	hsa-miR-576-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	23327923, 24286120, 28609714, 29513927, 33961781
GO:0005525	Function	GTP binding	IDA	24286120
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	24286120, 28471450
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	24286120
GO:0005764	Component	Lysosome	IDA	24286120
GO:0005856	Component	Cytoskeleton	IDA	24286120
GO:0006952	Process	Defense response	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	IMP	26599367, 28471450, 28609714
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0030218	Process	Erythrocyte differentiation	IMP	23327923
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	28471450
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IEA
GO:0034136	Process	Negative regulation of toll-like receptor 2 signaling pathway	IMP	26599367
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IEA
GO:0034137	Process	Positive regulation of toll-like receptor 2 signaling pathway	IMP	26599367, 28471450
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IMP	28609714
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IMP	28609714
GO:0043030	Process	Regulation of macrophage activation	IMP	28471450
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	IMP	28471450, 28609714
GO:0046330	Process	Positive regulation of JNK cascade	IMP	28471450
GO:0050728	Process	Negative regulation of inflammatory response	IMP	29168081
GO:0051721	Function	Protein phosphatase 2A binding	IDA	28609714
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	29168081
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	23327923
GO:1900181	Process	Negative regulation of protein localization to nucleus	IMP	28609714
GO:1900745	Process	Positive regulation of p38MAPK cascade	IMP	28471450

Other IDs

• MIM: 605352
• HGNC: 16982
• e!Ensembl: ENSG00000147324

Protein

• UniProt ID: Q9Y4C4
• Protein name: Malignant fibrous histiocytoma-amplified sequence 1 (Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1)
• Protein function: Probable GTP-binding protein (PubMed:24286120). Functions in innate immunity and more specifically the inflammatory response as a regulator of the Toll-like receptor TLR2 and TLR4 signaling pathways (PubMed:26599367, PubMed:28471450, PubMed:2860
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08477	Roc	411 → 541		Domain
  PF13855	LRR_8	111 → 170	Leucine rich repeat	Repeat
  PF13855	LRR_8	87 → 147	Leucine rich repeat	Repeat
  PF13855	LRR_8	250 → 308	Leucine rich repeat	Repeat
  PF13855	LRR_8	181 → 239	Leucine rich repeat	Repeat
  PF13855	LRR_8	204 → 262	Leucine rich repeat	Repeat
  PF13855	LRR_8	150 → 193	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Overexpressed in malignant fibrous histiocytomas (PubMed:9973190). Expressed in red blood cells (at protein level) (PubMed:23327923). {ECO:0000269|PubMed:23327923, ECO:0000269|PubMed:9973190}.
• Sequence:

  MAGMDSGNLKTARLWRDAALRARKLRSNLRQLTLTAAGACPGAGADALESPASPQLVLPA
  NLGDIEALNLGNNGLEEVPEGLGSALGSLRVLVLRRNRFARLPPAVAELGHHLTELDVSH
  NRLTALGAEVVSALRELRKLNLSHNQLPALPAQLGALAHLEELDVSFNRLAHLPDSLSCL
  SRLRTLDVDHNQLTAFPRQLLQLVALEELDVSSNRLRGLPEDISALRALKILWLSGAELG
  TLPAGFCELASLESLMLDNNGLQALPAQFSCLQRLKMLNLSSNLFEEFPAALLPLAGLEE
  LYLSRNQLTSVPSLISGLGRLLTLWLDNNRIRYLPDSIVELTGLEELVLQGNQIAVLPDH
  FGQLSRVGLWKIKDNPLIQPPYEVCMKGIPYIAAYQKELAHSQPAVQPRLKLLLMGHKAA
  GKTLLRHCLTEERVEGCPGGGDKEKCYPPSPPPVSKGIEVTSWTADASRGLRFIVYDLAG
  DESYEVIQPFFLSPGALYVLVVNLATYEPRHFPTTVGSFLHRVGARVPHAVVCIVGTHAD
  LCGERELEEKCLDIHRQIALQEKHDAEGLSRLAKVVDEALARDFELRSASPHAAYYGVSD
  KNLRRRKAHFQYLLNHRLQILSPVLPVSCRDPRHLRRLRDKLLSVAEHREIFPNLHRVLP
  RSWQVLEELHFQPPQAQRLWLSWWDSARLGLQAGLTEDRLQSALSYLHESGKLLYFEDSP
  ALKEHVFHNLTRLIDILNVFFQRDPSLLLHKLLLGTSGEGKAEGESSPPMARSTPSQELL
  RATQLHQYVEGFLLHGLLPAHVIRLLLKPHVQAQQDLQLLLELLEKMGLCYCLNKPKGKP
  LNGSTAWYKFPCYVQNEVPHAEAWINGTNLAGQSFVAEQLQIEYSFPFTFPLGLFARYSV
  QINSHVVHRSDGKFQIFAYRGKVPVVVSYRPARGVLQPDTLSIASHASLPNIWTAWQAIT
  PLVEELNVLLQEWPGLHYTVHILCSKCLKRGSPNPHAFPGELLSQPRPEGVAEIICPKNG
  SERVNVALVYPPTPTVISPCSKKNVGEKHRNQ

• Sequence length: 1052

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 (28)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	35472084	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	38565336	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	39580447	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	30804561	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	18846501	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM INFECTIOUS DISORDER	—	GWAS catalog	32152699	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	35472084	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	38102678, 38643935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	33859377	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MFHAS1-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	27067015, 29255261, 30643256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	36889626	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	36653343	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	22210626	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	39358599	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	28714469, 36750564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32541925, 38685053	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (24)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	14691450		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	14691450		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19047905	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27783989		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23045723	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	22763110		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29168081		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31696221		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	14691450		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31476310		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28488351		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28289186	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29625966		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	15041220, 22988871, 9973190		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28488351		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19047905		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	28433457		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36297114	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	22689969, 24470158		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31696221		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	19047905		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17229543	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PKD1L2 2 shared diseasesConduct disorder, Otosclerosis 1 shared evidence sourceGWAS catalog (Conduct disorder) Related via 2 shared diseases including Conduct disorder, Otosclerosis — evidence mostly GWAS catalog. MED12L 2 shared diseasesDigestive system disease, Irritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Digestive system disease), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Digestive system disease, Irritable bowel syndrome — evidence mostly GWAS catalog. COP1 1 shared diseaseIrritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Endometriosis), GWAS catalog (Irritable bowel syndrome) Related via 1 shared disease including Irritable bowel syndrome — evidence mostly GWAS catalog. CLDN23 1 shared diseaseOtosclerosis 2 shared evidence sourcesGWAS catalog (Endometriosis), GWAS catalog (Otosclerosis) Related via 1 shared disease including Otosclerosis — evidence mostly GWAS catalog. CARMIL1 2 shared diseasesDigestive system disease, Irritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Digestive system disease), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Digestive system disease, Irritable bowel syndrome — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PKD1L2	2	["Conduct disorder","Otosclerosis"]	0	[]	1	["GWAS catalog (Conduct disorder)"]
MED12L	2	["Digestive system disease","Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Digestive system disease)","GWAS catalog (Irritable bowel syndrome)"]
COP1	1	["Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Endometriosis)","GWAS catalog (Irritable bowel syndrome)"]
CLDN23	1	["Otosclerosis"]	0	[]	2	["GWAS catalog (Endometriosis)","GWAS catalog (Otosclerosis)"]
CARMIL1	2	["Digestive system disease","Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Digestive system disease)","GWAS catalog (Irritable bowel syndrome)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesMED12L, COP1 Insomnia Linked via 2 of 5 related genesMED12L, CARMIL1 Bipolar disorder Linked via 2 of 5 related genesCOP1, CARMIL1 Schizophrenia Linked via 2 of 5 related genesCOP1, CARMIL1 Coronary artery disease Linked via 2 of 5 related genesCLDN23, CARMIL1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["MED12L","COP1"]
Insomnia	2	["MED12L","CARMIL1"]
Bipolar disorder	2	["COP1","CARMIL1"]
Schizophrenia	2	["COP1","CARMIL1"]
Coronary artery disease	2	["CLDN23","CARMIL1"]