Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6307
Gene name	Methylsterol monooxygenase 1
Gene symbol	MSMO1
Synonyms (NCBI Gene)	DESP4ERG25MCCPDSC4MOL
Chromosome	4
Chromosome location	4q32.3
Summary	Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localiz

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs760048191	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs869025576	T>A	Pathogenic	Coding sequence variant, missense variant
rs869025577	G>C	Pathogenic	Coding sequence variant, missense variant

243

Show/Hide all (243)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007120	hsa-miR-19a-3p	Luciferase reporter assay	23451058
MIRT018951	hsa-miR-335-5p	Microarray	18185580
MIRT030172	hsa-miR-26b-5p	Microarray	19088304
MIRT051607	hsa-let-7e-5p	CLASH	23622248
MIRT093443	hsa-miR-223-3p	MicroarrayqRT-PCR	22815788
MIRT164525	hsa-miR-93-5p	MicroarrayqRT-PCR	22815788
MIRT724506	hsa-miR-3667-5p	HITS-CLIP	19536157
MIRT724505	hsa-miR-8066	HITS-CLIP	19536157
MIRT724504	hsa-miR-1972	HITS-CLIP	19536157
MIRT724503	hsa-miR-4650-5p	HITS-CLIP	19536157
MIRT472947	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT472946	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT472945	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT472943	hsa-miR-3926	HITS-CLIP	19536157
MIRT472939	hsa-miR-548s	HITS-CLIP	19536157
MIRT656123	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT472946	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT472945	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT472944	hsa-miR-769-5p	HITS-CLIP	23824327
MIRT472943	hsa-miR-3926	HITS-CLIP	23824327
MIRT472940	hsa-miR-3672	HITS-CLIP	23824327
MIRT472941	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT472939	hsa-miR-548s	HITS-CLIP	23824327
MIRT093443	hsa-miR-223-3p	PAR-CLIP	21572407
MIRT164523	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT007120	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT164530	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT164531	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT164544	hsa-miR-4295	PAR-CLIP	21572407
MIRT164546	hsa-miR-3666	PAR-CLIP	21572407
MIRT164540	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT164541	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT164528	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT164525	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT164536	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT164534	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT164522	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT164524	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT164532	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT164527	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT164529	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT093446	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT164538	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT164535	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT164533	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT164542	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT093449	hsa-miR-3973	PAR-CLIP	21572407
MIRT093444	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT093445	hsa-miR-520h	PAR-CLIP	21572407
MIRT018951	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT541178	hsa-miR-4719	PAR-CLIP	21572407
MIRT541177	hsa-miR-584-3p	PAR-CLIP	21572407
MIRT541176	hsa-miR-4277	PAR-CLIP	21572407
MIRT164547	hsa-miR-3670	PAR-CLIP	21572407
MIRT541175	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT212116	hsa-miR-498	PAR-CLIP	21572407
MIRT093443	hsa-miR-223-3p	PAR-CLIP	21572407
MIRT164523	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT007120	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT164530	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT164531	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT164544	hsa-miR-4295	PAR-CLIP	21572407
MIRT164546	hsa-miR-3666	PAR-CLIP	21572407
MIRT164540	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT164541	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT164528	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT164525	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT164536	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT164534	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT164522	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT164524	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT164532	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT164527	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT164529	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT093446	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT164538	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT164535	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT164533	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT164542	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT093449	hsa-miR-3973	PAR-CLIP	21572407
MIRT093444	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT093445	hsa-miR-520h	PAR-CLIP	21572407
MIRT018951	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT541178	hsa-miR-4719	PAR-CLIP	21572407
MIRT541177	hsa-miR-584-3p	PAR-CLIP	21572407
MIRT541176	hsa-miR-4277	PAR-CLIP	21572407
MIRT164547	hsa-miR-3670	PAR-CLIP	21572407
MIRT541175	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT490974	hsa-miR-300	PAR-CLIP	23592263
MIRT490973	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT490972	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT164548	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT093448	hsa-miR-4328	PAR-CLIP	23592263
MIRT164552	hsa-miR-5093	PAR-CLIP	23592263
MIRT093447	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT164519	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT164520	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT164521	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT164526	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT490971	hsa-miR-599	PAR-CLIP	23592263
MIRT472949	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT472948	hsa-miR-6500-3p	PAR-CLIP	23592263
MIRT472947	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT472946	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT472945	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT472944	hsa-miR-769-5p	PAR-CLIP	23592263
MIRT472943	hsa-miR-3926	PAR-CLIP	23592263
MIRT472942	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT472940	hsa-miR-3672	PAR-CLIP	23592263
MIRT472941	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT472939	hsa-miR-548s	PAR-CLIP	23592263
MIRT164529	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT164524	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT164529	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT164522	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT164532	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT164525	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT164536	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT007120	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT164523	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT164524	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT472949	hsa-miR-3614-5p	PAR-CLIP	27292025
MIRT472949	hsa-miR-3614-5p	PAR-CLIP	27292025
MIRT472940	hsa-miR-3672	PAR-CLIP	27292025
MIRT472940	hsa-miR-3672	PAR-CLIP	27292025
MIRT472940	hsa-miR-3672	PAR-CLIP	27292025
MIRT472945	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT472945	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT472948	hsa-miR-6500-3p	PAR-CLIP	27292025
MIRT472948	hsa-miR-6500-3p	PAR-CLIP	27292025
MIRT472942	hsa-miR-6801-5p	PAR-CLIP	27292025
MIRT472942	hsa-miR-6801-5p	PAR-CLIP	27292025
MIRT472947	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT472941	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT472941	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT472941	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT472944	hsa-miR-769-5p	PAR-CLIP	27292025
MIRT472944	hsa-miR-769-5p	PAR-CLIP	27292025
MIRT724506	hsa-miR-3667-5p	HITS-CLIP	19536157
MIRT724505	hsa-miR-8066	HITS-CLIP	19536157
MIRT724504	hsa-miR-1972	HITS-CLIP	19536157
MIRT724503	hsa-miR-4650-5p	HITS-CLIP	19536157
MIRT472947	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT472946	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT472945	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT472943	hsa-miR-3926	HITS-CLIP	19536157
MIRT472939	hsa-miR-548s	HITS-CLIP	19536157
MIRT656123	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT472946	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT472945	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT472944	hsa-miR-769-5p	HITS-CLIP	23824327
MIRT472943	hsa-miR-3926	HITS-CLIP	23824327
MIRT472940	hsa-miR-3672	HITS-CLIP	23824327
MIRT472941	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT472939	hsa-miR-548s	HITS-CLIP	23824327
MIRT093443	hsa-miR-223-3p	PAR-CLIP	21572407
MIRT164523	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT007120	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT164530	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT164531	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT164544	hsa-miR-4295	PAR-CLIP	21572407
MIRT164546	hsa-miR-3666	PAR-CLIP	21572407
MIRT164540	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT164541	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT164528	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT164525	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT164536	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT164534	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT164522	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT164524	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT164532	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT164527	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT164529	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT093446	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT164538	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT164535	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT164533	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT164542	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT093449	hsa-miR-3973	PAR-CLIP	21572407
MIRT093444	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT093445	hsa-miR-520h	PAR-CLIP	21572407
MIRT018951	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT541178	hsa-miR-4719	PAR-CLIP	21572407
MIRT541177	hsa-miR-584-3p	PAR-CLIP	21572407
MIRT541176	hsa-miR-4277	PAR-CLIP	21572407
MIRT164547	hsa-miR-3670	PAR-CLIP	21572407
MIRT541175	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT212116	hsa-miR-498	PAR-CLIP	21572407
MIRT093443	hsa-miR-223-3p	PAR-CLIP	21572407
MIRT164523	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT007120	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT164530	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT164531	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT164544	hsa-miR-4295	PAR-CLIP	21572407
MIRT164546	hsa-miR-3666	PAR-CLIP	21572407
MIRT164540	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT164541	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT164528	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT164525	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT164536	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT164534	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT164522	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT164524	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT164532	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT164527	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT164529	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT093446	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT164538	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT164535	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT164533	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT164542	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT093449	hsa-miR-3973	PAR-CLIP	21572407
MIRT093444	hsa-miR-520g-3p	PAR-CLIP	21572407
MIRT093445	hsa-miR-520h	PAR-CLIP	21572407
MIRT018951	hsa-miR-335-5p	PAR-CLIP	21572407
MIRT541178	hsa-miR-4719	PAR-CLIP	21572407
MIRT541177	hsa-miR-584-3p	PAR-CLIP	21572407
MIRT541176	hsa-miR-4277	PAR-CLIP	21572407
MIRT164547	hsa-miR-3670	PAR-CLIP	21572407
MIRT541175	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT490974	hsa-miR-300	PAR-CLIP	23592263
MIRT490973	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT490972	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT164548	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT093448	hsa-miR-4328	PAR-CLIP	23592263
MIRT164552	hsa-miR-5093	PAR-CLIP	23592263
MIRT093447	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT164519	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT164520	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT164521	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT164526	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT490971	hsa-miR-599	PAR-CLIP	23592263
MIRT472949	hsa-miR-3614-5p	PAR-CLIP	23592263
MIRT472948	hsa-miR-6500-3p	PAR-CLIP	23592263
MIRT472947	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT472946	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT472945	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT472944	hsa-miR-769-5p	PAR-CLIP	23592263
MIRT472943	hsa-miR-3926	PAR-CLIP	23592263
MIRT472942	hsa-miR-6801-5p	PAR-CLIP	23592263
MIRT472940	hsa-miR-3672	PAR-CLIP	23592263
MIRT472941	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT472939	hsa-miR-548s	PAR-CLIP	23592263

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000254	Function	C-4 methylsterol oxidase activity	IBA
GO:0000254	Function	C-4 methylsterol oxidase activity	IEA
GO:0000254	Function	C-4 methylsterol oxidase activity	TAS	8663358
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8663358
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS	8663358
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	TAS	8663358
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	TAS	8663358
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8663358
GO:0016126	Process	Sterol biosynthetic process	IBA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA

MIM	HGNC	e!Ensembl
607545	10545	ENSG00000052802

Q15800

Protein name

Methylsterol monooxygenase 1 (EC 1.14.18.9) (C-4 methylsterol oxidase) (Sterol-C4-methyl oxidase)

Protein function

Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04116	FA_hydroxylase	142 → 274	Fatty acid hydroxylase superfamily	Family

Sequence

MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEA
LYFLFCLPGFLFQFIPYMKKYKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFT
EYFNIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPF
GMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLNPLNL
IPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE

Sequence length

293

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Cholesterol biosynthesis

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	Pathogenic; Likely pathogenic	rs869025576, rs760048191, rs869025577	RCV000208581 RCV000208576 RCV000208578	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, PSORIASIFORM DERMATITIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MSMO1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthralgia	Arthralgia	Pubtator	21285510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27246191	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21285510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	24144731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21285510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22791750, 30180967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	22791750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	22791750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	34722766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21285510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22791750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38022627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23125191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37481560	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	21285510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	ORPHANET_DG	21285510, 23042573, 24144731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	GENOMICS_ENGLAND_DG	21285510, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	UNIPROT_DG	21285510, 24144731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	20929975, 21285510, 22935719, 23622407, 24144731, 25148791, 25896808, 8663358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17938642, 23125191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22791750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22791750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	21285510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24144731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36078127	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35924232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MSMO1 (methylsterol monooxygenase 1)