COASY (Coenzyme A synthase)

Gene

• Entrez ID: 80347
• Gene name: Coenzyme A synthase
• Gene symbol: COASY
• Synonyms (NCBI Gene): DPCK, NBIA6, NBP, PCH12, PPAT, UKR1, pOV-2
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane tra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777136	C>T	Pathogenic	Coding sequence variant, stop gained
rs1022433060	A>C	Likely-pathogenic	Splice acceptor variant
rs1567903711	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567904066	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030060	hsa-miR-26b-5p	Microarray	19088304
MIRT050109	hsa-miR-26a-5p	CLASH	23622248
MIRT043324	hsa-miR-331-3p	CLASH	23622248
MIRT036719	hsa-miR-760	CLASH	23622248
MIRT566310	hsa-miR-548n	PAR-CLIP	20371350
MIRT566309	hsa-miR-224-5p	PAR-CLIP	20371350
MIRT566307	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT566308	hsa-miR-4719	PAR-CLIP	20371350
MIRT566306	hsa-miR-513b-5p	PAR-CLIP	20371350
MIRT470556	hsa-miR-548e-5p	PAR-CLIP	23592263
MIRT470555	hsa-miR-548av-3p	PAR-CLIP	23592263
MIRT470554	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT470553	hsa-miR-4422	PAR-CLIP	23592263
MIRT470552	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT470551	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT470550	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT470549	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT470548	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT470547	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT470546	hsa-miR-6773-3p	PAR-CLIP	23592263
MIRT470545	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT470544	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT470543	hsa-miR-4795-3p	PAR-CLIP	23592263
MIRT470542	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT470541	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT470539	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT470540	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT470538	hsa-miR-15a-3p	PAR-CLIP	23592263
MIRT470537	hsa-miR-548ao-5p	PAR-CLIP	23592263
MIRT470536	hsa-miR-548ax	PAR-CLIP	23592263
MIRT470535	hsa-miR-5585-5p	PAR-CLIP	23592263
MIRT470534	hsa-miR-3611	PAR-CLIP	23592263
MIRT566310	hsa-miR-548n	PAR-CLIP	20371350
MIRT566309	hsa-miR-224-5p	PAR-CLIP	20371350
MIRT566307	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT566308	hsa-miR-4719	PAR-CLIP	20371350
MIRT566306	hsa-miR-513b-5p	PAR-CLIP	20371350
MIRT470556	hsa-miR-548e-5p	PAR-CLIP	23592263
MIRT470555	hsa-miR-548av-3p	PAR-CLIP	23592263
MIRT470554	hsa-miR-548g-3p	PAR-CLIP	23592263
MIRT470553	hsa-miR-4422	PAR-CLIP	23592263
MIRT470552	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT470551	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT470550	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT470549	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT470548	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT470547	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT470546	hsa-miR-6773-3p	PAR-CLIP	23592263
MIRT470545	hsa-miR-520d-5p	PAR-CLIP	23592263
MIRT470544	hsa-miR-524-5p	PAR-CLIP	23592263
MIRT470543	hsa-miR-4795-3p	PAR-CLIP	23592263
MIRT470542	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT470541	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT470539	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT470540	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT470538	hsa-miR-15a-3p	PAR-CLIP	23592263
MIRT470537	hsa-miR-548ao-5p	PAR-CLIP	23592263
MIRT470536	hsa-miR-548ax	PAR-CLIP	23592263
MIRT470535	hsa-miR-5585-5p	PAR-CLIP	23592263
MIRT470534	hsa-miR-3611	PAR-CLIP	23592263
MIRT901997	hsa-miR-1207-3p	CLIP-seq
MIRT901998	hsa-miR-1291	CLIP-seq
MIRT901999	hsa-miR-31	CLIP-seq
MIRT902000	hsa-miR-3150a-3p	CLIP-seq
MIRT902001	hsa-miR-3175	CLIP-seq
MIRT902002	hsa-miR-3176	CLIP-seq
MIRT902003	hsa-miR-328	CLIP-seq
MIRT902004	hsa-miR-3922-3p	CLIP-seq
MIRT902005	hsa-miR-4481	CLIP-seq
MIRT902006	hsa-miR-4676-5p	CLIP-seq
MIRT902007	hsa-miR-4745-5p	CLIP-seq
MIRT902008	hsa-miR-491-5p	CLIP-seq
MIRT902009	hsa-miR-555	CLIP-seq
MIRT902010	hsa-miR-575	CLIP-seq
MIRT902011	hsa-miR-622	CLIP-seq
MIRT902012	hsa-miR-665	CLIP-seq
MIRT902013	hsa-miR-939	CLIP-seq
MIRT2386331	hsa-miR-516a-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004140	Function	Dephospho-CoA kinase activity	IBA
GO:0004140	Function	Dephospho-CoA kinase activity	IDA	11923312, 11994049
GO:0004140	Function	Dephospho-CoA kinase activity	IEA
GO:0004140	Function	Dephospho-CoA kinase activity	TAS
GO:0004595	Function	Pantetheine-phosphate adenylyltransferase activity	IBA
GO:0004595	Function	Pantetheine-phosphate adenylyltransferase activity	IDA	11923312, 11994049
GO:0004595	Function	Pantetheine-phosphate adenylyltransferase activity	IEA
GO:0004595	Function	Pantetheine-phosphate adenylyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	22982864, 25416956, 35156780, 36012204
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IDA	24360804
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IBA
GO:0015937	Process	Coenzyme A biosynthetic process	IDA	11923312
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	TAS	11994049
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 609855
• HGNC: 29932
• e!Ensembl: ENSG00000068120

Protein

• UniProt ID: Q13057
• Protein name: Bifunctional coenzyme A synthase (CoA synthase) (NBP) (POV-2) [Includes: Phosphopantetheine adenylyltransferase (EC 2.7.7.3) (Dephospho-CoA pyrophosphorylase) (Pantetheine-phosphate adenylyltransferase) (PPAT); Dephospho-CoA kinase (DPCK) (EC 2.7.1.24) (D
• Protein function: Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by th
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01467	CTP_transf_like	195 → 339	Cytidylyltransferase-like	Domain
  PF01121	CoaE	359 → 535	Dephospho-CoA kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined including brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocyte. Lowest expression in peripheral blood leukocytes and highe
• Sequence:

  MAVFRSGLLVLTTPLASLAPRLASILTSAARLVNHTLYVHLQPGMSLEGPAQPQSSPVQA
  TFEVLDFITHLYAGADVHRHLDVRILLTNIRTKSTFLPPLPTSVQNLAHPPEVVLTDFQT
  LDGSQYNPVKQQLVRYATSCYSCCPRLASVLLYSDYGIGEVPVEPLDVPLPSTIRPASPV
  AGSPKQPVRGYYRGAVGGTFDRLHNAHKVLLSVACILAQEQLVVGVADKDLLKSKLLPEL
  LQPYTERVEHLSEFLVDIKPSLTFDVIPLLDPYGPAGSDPSLEFLVVSEETYRGGMAINR
  FRLENDLEELALYQIQLLKDLRHTENEEDKVSSSSFRQRMLGNLLRPPYERPELPTCLYV
  IGLTGISGSGKSSIAQRLKGLGAFVIDSDHLGHRAYAPGGPAYQPVVEAFGTDILHKDGI
  INRKVLGSRVFGNKKQLKILTDIMWPIIAKLAREEMDRAVAEGKRVCVIDAAVLLEAGWQ
  NLVHEVWTAVIPETEAVRRIVERDGLSEAAAQSRLQSQMSGQQLVEQSHVVLSTLWEPHI
  TQRQVEKAWALLQKRIPKTHQALD

• Sequence length: 564

Pathways

KEGG:

Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Coenzyme A biosynthesis

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
COASY-related disorder	Likely pathogenic	rs145108650	RCV003395537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COASY-Related Disorders	Pathogenic	rs374709763	RCV005409060	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs145108650	RCV005926426	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation	Pathogenic; Likely pathogenic	rs140709867, rs2143196984, rs752707793, rs766482965	RCV002298471 RCV002271905 RCV002302576 RCV003235379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation 2B	Likely pathogenic; Pathogenic	rs577714887	RCV005645171	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation 6	Pathogenic; Likely pathogenic	rs140709867, rs587777136, rs374709763, rs562485309, rs2510677991, rs566973741, rs145108650, rs2093001133, rs2092992348, rs1475720319, rs867634700, rs2510680306, rs560987504, rs1567904066, rs1597713743	RCV000087062 RCV000087063 RCV001900249 RCV001931000 RCV002582707 RCV002913001 RCV002937500 RCV003009187 RCV003042784 RCV003583423 RCV003583559 RCV003583568 RCV003745270 RCV000735978 RCV000823134	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia, type 12	Likely pathogenic; Pathogenic	rs566973741, rs145108650, rs577714887, rs766482965	RCV005019445 RCV005019463 RCV000735979 RCV000735980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COASY PROTEIN-ASSOCIATED NEURODEGENERATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME A SYNTHASE PROTEIN ASSOCIATED NEURODEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERVORDEN-SPATZ SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipid storage myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	18636117		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	27606678		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	8077378		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32699290	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	26704906	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	26704906		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	30089828		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	30089828	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	18799196		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21092186	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23603342, 30463022		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30463022	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33407546	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35798250	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28442357		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30629983		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	9865919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	9865919		★☆☆☆☆ Found in Text Mining only
COASY protein-associated neurodegeneration	COASY Protein-Associated Neurodegeneration	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coenzyme A synthase protein associated neurodegeneration	Coenzyme A Synthase Protein Associated Neurodegeneration	GENOMICS_ENGLAND_DG	24360804, 27021474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	20554868, 29728920		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32699290	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27468871		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20459617	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	8077378		★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30089828		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	8077378		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	3130752		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28944854, 30178865		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30506335		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28602143		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24481334		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	BEFREE	27885802		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30054423		★☆☆☆☆ Found in Text Mining only
Fatty Acid Hydroxylase-Associated Neurodegeneration	Fatty Acid Hydroxylase Associated Neurodegeneration	BEFREE	29325618		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	30814395		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23403885		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	25591844		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26787451		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism familial isolated	Hypoparathyroidism	BEFREE	28938448		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	25591844		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20554868, 29728920, 30506335, 31192971		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28367640, 28603491		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21760593		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia	Dysmyelinating Leukodystrophy And Spastic Paraparesis With Or Without Dystonia	BEFREE	29325618		★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	16757530		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16264227, 8380692		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12557265, 8380692		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23403885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23603342, 30463022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27468871, 28738329		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30211221		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	9865919		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	17566083, 28216128, 29104223, 29988390, 7739708		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30054423		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30089828	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B	Limb-Girdle Muscular Dystrophy	BEFREE	27558075		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25481712, 31704889, 8626855		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20554868, 21063685, 22233765		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25671571	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	24360804, 25668476, 25744623, 25870938		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	Neurodegeneration With Brain Iron Accumulation	ORPHANET_DG	24360804		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	Neurodegeneration With Brain Iron Accumulation	UNIPROT_DG	24360804, 28489334		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	Neurodegeneration With Brain Iron Accumulation	GENOMICS_ENGLAND_DG	24360804, 27021474, 30089828		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	Neurodegeneration With Brain Iron Accumulation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	Neurodegeneration With Brain Iron Accumulation	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30089828, 32699290	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31694365		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21198743	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	24012779		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, Levin type	Osteogenesis Imperfecta	BEFREE	28087732		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31452264		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	28216128		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	25481712		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22759592		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17203488, 31192971		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	29104223		★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	30089828	Associate	★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 12	Ciliary Dyskinesia	GENOMICS_ENGLAND_DG	30089828		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 12	Ciliary Dyskinesia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	30089828		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	24012779, 29104223		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21900597	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	10094437, 1410084, 3003142, 8862504, 9506752		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	10094437, 1449489, 1621772, 19530187, 24423294, 25591844, 2829196, 3003142, 7573148, 9506735		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	24438374		★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	10094437, 31041856, 9506752		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	31704889		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27468871, 28738329		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	8923835		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32828275	Inhibit	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	20960562, 26825879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	24438374		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	8512814	Associate	★☆☆☆☆ Found in Text Mining only