TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase)

Gene

• Entrez ID: 6901
• Gene name: Tafazzin, phospholipid-lysophospholipid transacylase
• Gene symbol: TAFAZZIN
• Synonyms (NCBI Gene): BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocard

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630277	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200909606	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs387907218	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397515746	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397515747	G>A	Pathogenic	Splice acceptor variant
rs397515750	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587776741	G>C	Pathogenic	Missense variant, splice acceptor variant, coding sequence variant
rs727504394	TG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs727504431	G>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs781795144	C>G,T	Likely-pathogenic	Intron variant
rs794729167	G>A	Pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs794729174	C>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs876661038	A>G	Pathogenic	Intron variant, splice acceptor variant
rs876661112	A>G	Likely-pathogenic	Splice acceptor variant
rs878853656	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, stop gained, coding sequence variant
rs1057515818	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs1057518416	G>A	Pathogenic	Splice donor variant
rs1085307797	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1298362744	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1557193815	G>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1557193821	->G	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1557194077	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557194488	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1557194525	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1569552936	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381671	AGTG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381860	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603382251	->GGCTG	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	38322995
GO:0005739	Component	Mitochondrion	IDA	15304507, 19700766
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IC	17043667
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	26908608
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007007	Process	Inner mitochondrial membrane organization	IBA
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IBA
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	23152787
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IDA	15304507, 19700766, 26908608
GO:0035965	Process	Cardiolipin acyl-chain remodeling	IMP	11118295, 16873891, 33096711
GO:0035965	Process	Cardiolipin acyl-chain remodeling	TAS	17043667, 38322995
GO:0042407	Process	Cristae formation	IMP	16857210, 17043667
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IBA
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	IDA	12930833
GO:0047184	Function	1-acylglycerophosphocholine O-acyltransferase activity	TAS
GO:1900210	Process	Positive regulation of cardiolipin metabolic process	IEA
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA

Other IDs

• MIM: 300394
• HGNC: 11577
• e!Ensembl: ENSG00000102125

Protein

• UniProt ID: Q16635
• Protein name: Tafazzin (Taz) (EC 2.3.1.-) (Protein G4.5)
• Protein function: Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adeq
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01553	Acyltransferase	41 → 215	Acyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in
• Sequence:

  MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPA
  TPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVP
  VCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPE
  GKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIG
  KPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR

• Sequence length: 292

Pathways

KEGG:

Glycerophospholipid metabolism

Reactome:

Mitochondrial protein import
Acyl chain remodeling of CL

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
3-Methylglutaconic aciduria type 2	Likely pathogenic; Pathogenic	rs2148185111, rs2148186224, rs2148191858, rs2522985246, rs727504394, rs727504431, rs2522985522, rs2522990298, rs794729166, rs104894942, rs794729167, rs2522990255, rs2522925422, rs2522987117, rs104894941, rs2522987020, rs876661038, rs876661112, rs878853654, rs2522985442, rs1603377590, rs2148211636, rs2148212610, rs132630277, rs1603377747, rs1603376833, rs1603381671, rs587776741, rs2522985614, rs1603377945, rs2522996355, rs2522942574, rs2522985080, rs2522919648, rs2522999559, rs2522941783, rs1557194377, rs1603376560, rs2522923651, rs2522924351, rs2522990592, rs2522941824, rs2522925157, rs2546049717, rs2522924439, rs1057518416, rs2522925387, rs2148186695, rs1557191139, rs375663114, rs2522996339, rs1060500044, rs1085307797, rs1557194525, rs387907218, rs781795144, rs1557191074, rs397515738, rs397515740, rs397515747, rs1557191170, rs878853656, rs1569552731, rs1569552936, rs1603381860, rs1603376938, rs2068570435, rs2068574381, rs2068331233, rs2068606932, rs2068606445	RCV001385891 RCV001385019 RCV001389198 RCV002282805 RCV000154564 RCV000154666 RCV003066416 RCV002617543 RCV005089930 RCV002516936 RCV003512022 RCV002681793 RCV002745444 RCV003022167 RCV003034414 RCV003052004 RCV003236791 RCV003236792 RCV000230434 RCV004786902 RCV000011849 RCV000011850 RCV000011851 RCV000011852 RCV000011853 RCV000011854 RCV000011855 RCV000011856 RCV000011858 RCV000011859 RCV000011860 RCV000011861 RCV003237251 RCV003237255 RCV003237256 RCV003237259 RCV003237260 RCV003237262 RCV003237263 RCV003237267 RCV003237269 RCV003237270 RCV003237271 RCV003237272 RCV003237273 RCV003237274 RCV003237277 RCV003237278 RCV003237281 RCV003237283 RCV003237289 RCV003237290 RCV003237291 RCV003329097 RCV003513726 RCV003512474 RCV000471301 RCV000816124 RCV000503128 RCV000029171 RCV000578250 RCV005091763 RCV000035087 RCV000035089 RCV000035098 RCV000637296 RCV001844221 RCV000678752 RCV003236840 RCV000809073 RCV000791613 RCV000819778 RCV000818455 RCV000995886 RCV001061128 RCV001061185 RCV001044975 RCV003236876 RCV001283758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiomyopathy	Likely pathogenic; Pathogenic	rs1569552936, rs2068606932	RCV000770598 RCV001193472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs2522984951, rs1557191074	RCV002461599 RCV000620932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs1603377936	RCV000853163	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs727504394, rs727504431, rs387907218	RCV000154564 RCV000154666 RCV000035099	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TAFAZZIN-related disorder	Likely pathogenic; Pathogenic	rs132630277, rs2522925387, rs1603381860	RCV003226156 RCV004548512 RCV004723241	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs727504431, rs1603376833, rs1057518416, rs1603381860	RCV005888489 RCV005887432 RCV005930812 RCV005902081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTH SYNDROME	—	CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet CTD, ClinGen, Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caused by mutation in the tafazzin gene	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 3B	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocardial fibroelastosis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	BEFREE	23296368		★☆☆☆☆ Found in Text Mining only
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome	3-Methylglutaconic Aciduria With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome	BEFREE	25595726		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30930145		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28737828, 30638934, 31406246		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29953851		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31612066		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	26989177		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	29514840		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31416916		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28951564		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28942149		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	30615171		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28951564		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26730956		★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	14651618, 16135531, 19244244, 24078306, 24285538	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barth syndrome	Barth Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	17729299		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25170806		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18413727, 21349946, 22717556, 22825057, 23026745, 24531710, 24658687, 25447306, 25587023, 25870251, 26136233, 26320173, 26678338, 26885614, 27094683, 27485598, 28720576, 28822004, 28931725, 29717062, 29847788, 29848346, 30237296, 30450766		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29514840		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25170806		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24951773, 27797825, 28398634, 28415606, 30558661, 30638934		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	27248471, 27987320		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	29875149		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23942151, 31641008		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	29875149		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12930833, 16548007, 16857210, 22814679, 24856930, 25860817, 28123175, 28165342, 28183324, 29557170, 30744648, 31603701, 31729175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	BEFREE	28183324		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	11238270, 11896212, 12468278, 21300850, 4685904, 9382096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	11896212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16548007, 17394203, 21068380, 23031367, 23792436, 28279226, 29071820, 29695963		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	10974018, 14567970, 17394203, 23345479, 30122738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract and cardiomyopathy	Sengers syndrome	BEFREE	25595726		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31612066		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	27129148		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29298862		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29541248		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31696937		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23372686, 28946619, 29099643		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23372686, 23762387, 24976283, 26443705, 28416184, 29729381, 31190857		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	31531318		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19001357, 23031367, 30332638, 31603701		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30731073, 31484063		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23897276		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30385786		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	14651618		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy	BEFREE	23345479		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	25447306		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	27797343		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	27184927		★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	BEFREE	16548007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28202507, 28627686		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23942151, 31641008		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	7616547, 9382096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	28068223, 30964207		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28677804		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	30976198		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22190458, 25542152, 25760078, 26432005, 27167112, 28754668, 30082911		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22190458, 25542152, 25760078, 26432005, 27167112, 28754668		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27764783, 28754668, 31056533, 31209945, 31332287		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19001357, 23031367, 30332638, 31603701		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31743393		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29088718		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	16332960		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	23026745		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28498465		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	28683514		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28195168		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	15098233		★☆☆☆☆ Found in Text Mining only
Intermittent lactic acidemia	Intermittent lactic acidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	27554639		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	17846786, 20303308, 21987083, 23031367		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	20303308, 21987083, 30122738		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30930145		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	15098233, 16857210, 17394203, 21068380, 23432031, 23792436		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	25704916		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	27129148		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	27129148		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25495189, 25650113, 26125451, 26315112, 27734263, 29400692, 30005871, 30127666, 31146919, 31279903, 31576176		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31696937		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28734833, 29378174, 30206136, 31754005		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	22190458		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	29565815, 29731861, 30401981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18413727, 21349946, 22717556, 22825057, 23026745, 24531710, 24658687, 25587023, 25870251, 26136233, 26320173, 26678338, 26885614, 27094683, 27485598, 28720576, 28822004, 28931725, 29717062, 29847788, 29848346, 30237296, 30450766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28202507, 28627686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30731073		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30005871, 30476722, 30881030, 31754005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24951773, 27797825, 28398634, 28415606, 30558661, 30638934		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	25704916		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26416426, 28381547, 29499934, 29599309, 31562256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28408625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29875149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28534974, 30180862		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25170806		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25495189, 25592648, 25670202, 25704916, 25794680, 26465056, 27184927, 27412635, 27826640, 28249901, 28925394, 28951564, 28969054, 29099643, 29299145, 29339539, 29438691, 29597279, 29650681, 29669762, 29739703, 29749524, 29875149, 29976931, 30009411, 30050119, 30167083, 30224758, 30237296, 30472188, 30615171, 30731073, 30931304, 31358620, 31399556, 31416916, 31562256, 31635084, 31637239, 31746077		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	29438691, 29438698		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23372686, 28946619, 29099643		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31612066		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23897276, 30396386, 30833299		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25860817		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24285538	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	16855048		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	BEFREE	18172001		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17927494, 31743393		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29387948		★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	BEFREE	31729175		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15098233, 19454236, 30008435		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28749195, 28881733, 31273338		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18227151, 20951342, 20972459, 23216692, 24694946, 24951773, 25495189, 25542152, 25670202, 25843714, 25940705, 26443705, 26464030, 26750334, 26989177, 27167112, 27554639, 27601049, 27999199, 28128737, 28202507, 28415606, 28720576, 29099643, 29208682, 29507420, 29514840, 29691438, 29717062, 29749524, 30076557, 30206136, 30237296, 30396386, 30559289, 30741413, 30838036, 31063758, 31270418, 31484063, 31612066, 31743393, 31754005, 31791956		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	28430338		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25354978, 25940705		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	31063758		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	30604168		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	15098233, 16857210, 17394203, 21068380, 23432031, 23792436		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29739703		★☆☆☆☆ Found in Text Mining only
Non-compaction cardiomyopathy	Noncompaction cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21258416, 23695671, 24951773, 27999199, 28128737, 28710768, 28737828, 30638934, 30911072, 31601883, 31686855		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28068223, 31087761		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29739703, 30309656		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	28512636		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30017591, 31389578		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28055015, 28823959, 29933048, 31542501		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26416426, 28381547, 29499934, 29599309, 31562256		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	16794186		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	18172001, 19273592		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29891559		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28408625		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30124725		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	22690118		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	18172001		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28195168		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28489874		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30731073		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30731073, 31484063		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28739802		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	26464030, 27094723		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	26730956		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27184927		★☆☆☆☆ Found in Text Mining only
Rothmund-Thomson syndrome	Rothmund-Thomson Syndrome	BEFREE	26730956		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27129148, 29514840, 30167083		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	26989177		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27627196		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25794680, 29875149		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29145896		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31817001		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28068223		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28534974, 30180862		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	29669762		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	30814111		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	19542741		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28489874, 30741413		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	25870251		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27373987, 29562176		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31801083		★☆☆☆☆ Found in Text Mining only