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	4597
Gene name	Mevalonate diphosphate decarboxylase
Gene symbol	MVD
Synonyms (NCBI Gene)	FP17780MDDaseMPDPOROK7
Chromosome	16
Chromosome location	16q24.2
Summary	The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing A

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs755948940	T>C	Pathogenic	Missense variant, coding sequence variant
rs761991070	A>G	Pathogenic	Missense variant, coding sequence variant

214

Show/Hide all (214)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022326	hsa-miR-124-3p	Microarray	18668037
MIRT029055	hsa-miR-26b-5p	Microarray	19088304
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT1166606	hsa-miR-129-3p	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT1166608	hsa-miR-2467-5p	CLIP-seq
MIRT1166609	hsa-miR-3130-3p	CLIP-seq
MIRT1166610	hsa-miR-3157-5p	CLIP-seq
MIRT1166611	hsa-miR-3173-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT1166612	hsa-miR-3194-3p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT1166614	hsa-miR-4277	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT1166617	hsa-miR-4690-3p	CLIP-seq
MIRT1166618	hsa-miR-4727-5p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT1166620	hsa-miR-4769-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT1166621	hsa-miR-760	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT2048168	hsa-miR-1538	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2048170	hsa-miR-22	CLIP-seq
MIRT2048171	hsa-miR-2355-5p	CLIP-seq
MIRT2048172	hsa-miR-296-5p	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048174	hsa-miR-3127-3p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT2048177	hsa-miR-3938	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT2048178	hsa-miR-4292	CLIP-seq
MIRT2048179	hsa-miR-4308	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048181	hsa-miR-4532	CLIP-seq
MIRT2048182	hsa-miR-4641	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT2048183	hsa-miR-4655-5p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT2048184	hsa-miR-4701-5p	CLIP-seq
MIRT2048185	hsa-miR-4745-3p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2048188	hsa-miR-588	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2048189	hsa-miR-670	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT2277084	hsa-miR-1182	CLIP-seq
MIRT2277085	hsa-miR-1207-5p	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT2277086	hsa-miR-214	CLIP-seq
MIRT2277087	hsa-miR-298	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT2277088	hsa-miR-3619-5p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT2277089	hsa-miR-4291	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT2277090	hsa-miR-4691-3p	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT2277091	hsa-miR-4763-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2277092	hsa-miR-485-5p	CLIP-seq
MIRT2277093	hsa-miR-486-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2277094	hsa-miR-761	CLIP-seq
MIRT2277095	hsa-miR-922	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT1166607	hsa-miR-1827	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT1166613	hsa-miR-370	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT1166615	hsa-miR-4649-3p	CLIP-seq
MIRT1166616	hsa-miR-4663	CLIP-seq
MIRT1166619	hsa-miR-4746-5p	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT738782	hsa-miR-103b	CLIP-seq
MIRT738787	hsa-miR-1285	CLIP-seq
MIRT738788	hsa-miR-146a	CLIP-seq
MIRT738789	hsa-miR-146b-5p	CLIP-seq
MIRT738785	hsa-miR-3187-5p	CLIP-seq
MIRT738791	hsa-miR-3919	CLIP-seq
MIRT738790	hsa-miR-3925-5p	CLIP-seq
MIRT738783	hsa-miR-3945	CLIP-seq
MIRT738784	hsa-miR-4253	CLIP-seq
MIRT738793	hsa-miR-4330	CLIP-seq
MIRT738792	hsa-miR-4756-3p	CLIP-seq
MIRT738786	hsa-miR-612	CLIP-seq
MIRT2454628	hsa-miR-1289	CLIP-seq
MIRT2454629	hsa-miR-1915	CLIP-seq
MIRT2454630	hsa-miR-4433	CLIP-seq
MIRT2454631	hsa-miR-4726-3p	CLIP-seq
MIRT2454632	hsa-miR-665	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT2454628	hsa-miR-1289	CLIP-seq
MIRT2048168	hsa-miR-1538	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2454629	hsa-miR-1915	CLIP-seq
MIRT2048170	hsa-miR-22	CLIP-seq
MIRT2048172	hsa-miR-296-5p	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2575802	hsa-miR-3194-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT2454630	hsa-miR-4433	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048181	hsa-miR-4532	CLIP-seq
MIRT2048182	hsa-miR-4641	CLIP-seq
MIRT1166617	hsa-miR-4690-3p	CLIP-seq
MIRT2454631	hsa-miR-4726-3p	CLIP-seq
MIRT2048185	hsa-miR-4745-3p	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq
MIRT2575803	hsa-miR-572	CLIP-seq
MIRT2454632	hsa-miR-665	CLIP-seq
MIRT2048167	hsa-miR-1286	CLIP-seq
MIRT2048169	hsa-miR-1913	CLIP-seq
MIRT2048173	hsa-miR-3120-3p	CLIP-seq
MIRT2048175	hsa-miR-3189-5p	CLIP-seq
MIRT2048176	hsa-miR-324-3p	CLIP-seq
MIRT2048180	hsa-miR-4486	CLIP-seq
MIRT2048186	hsa-miR-4758-3p	CLIP-seq
MIRT2048187	hsa-miR-4793-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IBA
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IDA	11792727, 14680974
GO:0004163	Function	Diphosphomevalonate decarboxylase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	14972328
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	14972328
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	14972328
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	NAS	14680974
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	9270019
GO:0008299	Process	Isoprenoid biosynthetic process	IDA	11792727, 14680974
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA
GO:0030544	Function	Hsp70 protein binding	IPI	12646231
GO:0042803	Function	Protein homodimerization activity	IDA	8626466

MIM	HGNC	e!Ensembl
603236	7529	ENSG00000167508

P53602

Protein name

Diphosphomevalonate decarboxylase (EC 4.1.1.33) (Mevalonate (diphospho)decarboxylase) (MDDase) (Mevalonate pyrophosphate decarboxylase)

Protein function

Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoi

PDB

3D4J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00288	GHMP_kinases_N	111 → 166	GHMP kinases N terminal domain	Family
PF18376	MDD_C	197 → 382	Mevalonate 5-diphosphate decarboxylase C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta. {ECO:0000269|PubMed:8626466}.

Sequence

MASEKPLAAVTCTAPVNIAVIKYWGKRDEELVLPINSSLSVTLHQDQLKTTTTAVISKDF
TEDRIWLNGREEDVGQPRLQACLREIRCLARKRRNSRDGDPLPSSLSCKVHVASVNNFPT
AAGLASSAAGYACLAYTLARVYGVESDLSEVARRGSGSACRSLYGGFVEWQMGEQADGKD
SIARQVAPESHWPELRVLILVVSAEKKLTGSTVGMRASVETSPLLRFRAESVVPARMAEM
ARCIRERDFPSFAQLTMKDSNQFHATCLDTFPPISYLNAISWRIIHLVHRFNAHHGDTKV
AYTFDAGPNAVIFTLDDTVAEFVAAVWHGFPPGSNGDTFLKGLQVRPAPLSAELQAALAM
EPTPGGVKYIIVTQVGPGPQILDDPCAHLLGPDGLPKPAA

Sequence length

400

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis Metabolic pathways		Cholesterol biosynthesis Activation of gene expression by SREBF (SREBP) Synthesis of Dolichyl-phosphate

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Linear porokeratosis	Likely pathogenic	rs2142896426	RCV001849673	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MVD-related disorder	Pathogenic	rs761991070	RCV004757180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porokeratosis 7, multiple types	Pathogenic	rs2142906391, rs780212718, rs761991070, rs755948940	RCV001733589 RCV001784685 RCV000239486 RCV000239520	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic hearing impairment	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS 7, MULTIPLE TYPE S	—	CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	28506431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	12553038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adjustment Disorders	Adjustment Disorders	BEFREE	19605821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31368052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31368052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24595984, 24687553, 26294068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	24687553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24236050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	17124067, 18480833, 20829714, 23756559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23239191, 29970509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	14560778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17505508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21840356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31368052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20489684, 31511777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20489684, 31511777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated superficial actinic porokeratosis	Disseminated Superficial Actinic Porokeratosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	23017339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	29979116, 30497190, 31368052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	8626466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21840356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	26158200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	18623221, 20829714, 23756559, 8808725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15166264, 21623760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15205947, 28587437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	18200665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28858736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21984063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24595984, 24687553, 26294068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24236050, 31820925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24174171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24687553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12553038, 26294068, 29895904, 29970509, 30612152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	18679811		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19500366		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	31368052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	17124067		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11378546, 15166264, 17124067, 21623760, 8039158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	17124067, 17249502, 19605821, 24963042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17124067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	17124067, 20829714, 23756559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31189740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15007382, 17505508, 18794102, 19500366, 21681782, 22200632, 22200682, 22759793, 23239191, 23581230, 24190572, 25162518, 26294068, 28034567, 28438631 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	18679811		★★★★★ ★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	18679811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	20829714, 23756559		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24236050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37537636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17124067, 18623221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	26202976, 30942823, 31207227, 33491095	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	BEFREE	28765912, 31207227		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS 7, MULTIPLE TYPES	Porokeratosis	UNIPROT_DG	18823933, 26202976		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 7, MULTIPLE TYPES	Porokeratosis	GENOMICS_ENGLAND_DG	26202976, 28777842		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 7, MULTIPLE TYPES	Porokeratosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POROKERATOSIS 7, MULTIPLE TYPES	Porokeratosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porokeratosis of Mibelli	Porokeratosis	BEFREE	28765912, 31207227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	ORPHANET_DG	26202976		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	BEFREE	31207227		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Linear	Porokeratosis	BEFREE	30942823, 31207227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis, Linear	Porokeratosis	GENOMICS_ENGLAND_DG	30942823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	17124067, 17249502, 19605821, 24963042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24174171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15000492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31593802		★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28107455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	28268083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	17124067, 17249502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24687553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24687553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	28392449, 29979116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertebrobasilar Dolichoectasia	Vertebrobasilar Dolichoectasia	BEFREE	28392449		★★★★★ ★☆☆☆☆ Found in Text Mining only

MVD (mevalonate diphosphate decarboxylase)