ETFA (electron transfer flavoprotein subunit alpha)

Gene

• Entrez ID: 2108
• Gene name: Electron transfer flavoprotein subunit alpha
• Gene symbol: ETFA
• Synonyms (NCBI Gene): EMA, GA2, MADD
• Chromosome: 15
• Chromosome location: 15q24.2-q24.3
• Summary: ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119458969	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458970	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs119458971	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs140169311	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs199673198	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs199763682	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs727503918	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, initiator codon variant, missense variant
rs749929239	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs754202690	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs769976586	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs1298299792	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1475984278	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1596218695	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052043	hsa-let-7b-5p	CLASH	23622248
MIRT050733	hsa-miR-18a-5p	CLASH	23622248
MIRT050284	hsa-miR-25-3p	CLASH	23622248
MIRT049145	hsa-miR-92a-3p	CLASH	23622248
MIRT971541	hsa-miR-219-5p	CLIP-seq
MIRT971542	hsa-miR-369-3p	CLIP-seq
MIRT971543	hsa-miR-374a	CLIP-seq
MIRT971544	hsa-miR-374b	CLIP-seq
MIRT971545	hsa-miR-4276	CLIP-seq
MIRT971546	hsa-miR-4445	CLIP-seq
MIRT971547	hsa-miR-4677-3p	CLIP-seq
MIRT971548	hsa-miR-4679	CLIP-seq
MIRT971549	hsa-miR-4719	CLIP-seq
MIRT971550	hsa-miR-4782-3p	CLIP-seq
MIRT971551	hsa-miR-508-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24606901, 26618866, 27499296, 28380382, 33961781, 35156780, 36012204
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	3170610
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	8504797
GO:0005759	Component	Mitochondrial matrix	TAS	8617498
GO:0009055	Function	Electron transfer activity	IBA
GO:0009055	Function	Electron transfer activity	IDA	10423253, 25416781
GO:0009055	Function	Electron transfer activity	IEA
GO:0009063	Process	Amino acid catabolic process	IDA	25416781
GO:0016491	Function	Oxidoreductase activity	IDA	9334218, 10423253
GO:0022904	Process	Respiratory electron transport chain	IDA	25416781
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	25416781
GO:0045251	Component	Electron transfer flavoprotein complex	IEA
GO:0045251	Component	Electron transfer flavoprotein complex	IPI	8962055
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	9334218, 10423253
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

Other IDs

• MIM: 608053
• HGNC: 3481
• e!Ensembl: ENSG00000140374

Protein

• UniProt ID: P13804
• Protein name: Electron transfer flavoprotein subunit alpha, mitochondrial (Alpha-ETF)
• Protein function: Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed
• PDB: 1EFV, 1T9G, 2A1T, 2A1U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01012	ETF	22 → 197	Electron transfer flavoprotein domain	Domain
  PF00766	ETF_alpha	210 → 293	Electron transfer flavoprotein FAD-binding domain	Domain

• Sequence:

  MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKC
  DKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLL
  PRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSG
  GSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
  LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAIN
  KDPEAPIFQVADYGIVADLFKVVPEMTEILKKK

• Sequence length: 333

Pathways

Reactome:

Respiratory electron transport

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
ETFA-related disorder	Pathogenic; Likely pathogenic	rs119458970, rs1298299792	RCV003904798 RCV003403271	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric acidemia IIa	Likely pathogenic; Pathogenic	rs119458969, rs119458970, rs119458971	RCV000002711 RCV000002712 RCV000002713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric acidemia type 2A	Pathogenic; Likely pathogenic	rs1047426224, rs2543022168, rs769976586	RCV005614738 RCV005616502 RCV001829411	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple acyl-CoA dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs757409121, rs2039705645, rs2142101078, rs866218814, rs2039775781, rs2039717357, rs754050501, rs1047426224, rs2141543695, rs2141531787, rs2543022245, rs119458969, rs119458970, rs119458971, rs1567218409, rs1461515863, rs2543023661, rs2543023391, rs2543025196, rs2543022168, rs2039775823, rs2543025251, rs199763682, rs762158164, rs2543023523, rs2543032565, rs1297718024, rs773865838, rs2543032548, rs2543020037, rs2543025165, rs2543022225, rs2543032494, rs754443484, rs2543020089, rs780367967, rs2039718061, rs1567218476, rs2542969762, rs2543011277, rs2543051746, rs2543022358, rs2543032349, rs2543032160, rs766672514, rs2543025247, rs2543023364, rs2543011317, rs752119263, rs2543032272, rs2543032159, rs2543022350, rs765342744, rs1239955378, rs769976586, rs1298299792, rs1596218695, rs754202690, rs1475984278, rs1209473816, rs2039698086, rs1384386872, rs2038999395	RCV001381065 RCV001390288 RCV001844341 RCV001781054 RCV001987524 RCV001919517 RCV001993163 RCV001939556 RCV001951135 RCV002036201 RCV002031943 RCV002281668 RCV002281690 RCV000332032 RCV003472959 RCV003104196 RCV002614093 RCV002816367 RCV002862723 RCV002867627 RCV002908070 RCV002942141 RCV002982147 RCV001228210 RCV003467944 RCV003475597 RCV003475598 RCV003475599 RCV003475600 RCV003475601 RCV003475602 RCV003475603 RCV003475604 RCV003475605 RCV003475606 RCV003475607 RCV003475608 RCV003475610 RCV003476349 RCV003476350 RCV003512928 RCV003512439 RCV003513097 RCV003511830 RCV003512635 RCV003512741 RCV003512715 RCV003624646 RCV003625195 RCV003625317 RCV003625606 RCV003625735 RCV003626063 RCV003623931 RCV003624218 RCV003624340 RCV004576398 RCV004576400 RCV000779174 RCV000534299 RCV000803822 RCV000824641 RCV000985194 RCV001058139 RCV001069226 RCV001784643 RCV001175202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28819740, 31727793		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18088404		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	1728195		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31623213		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	31156489		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30118353		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	38556340	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	26037115		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18608209		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29679282		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31248290, 31500470		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24618616		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18608209		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27612422, 31572036		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19364692	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	29570129		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27958297		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	26424050, 28346443		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	31849484		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884, 24618616		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	20174623		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30099930		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28447076		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	1728195, 8639911		★☆☆☆☆ Found in Text Mining only
Diverticular Bleeding	Diverticular Bleeding	CTD_human_DG	30177863		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	CTD_human_DG	30177863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	16183799		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	25775275, 26287936		★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	16183799		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	30370487		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	29679282		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31408679		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	23233709		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	30844887		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26424050		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26424050		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	26424050, 28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	27612422, 28320150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	36541697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLUTARIC ACIDEMIA IIA	Glutaric acidemia	GENOMICS_ENGLAND_DG	27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLUTARIC ACIDEMIA IIA	Glutaric acidemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric Aciduria IIA	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glutaric Aciduria IIB	Glutaric Aciduria	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30617511		★☆☆☆☆ Found in Text Mining only
Hepatic periportal necrosis	Hepatic periportal necrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoid hemangioma	Epithelioid hemangioma	BEFREE	31770261		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	24043718, 31567275		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11372737, 1728195, 8639911		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	38556340	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	30870504		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	29679282		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	17203524		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31186529		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28276811, 30099930, 30189347		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	11378558, 31383967		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23785301		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31248290, 31500470		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27612422, 31572036		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27958297		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31362663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18608209		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18454162, 18608209, 28815334, 28857666, 31482399		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28566333		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27403706		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	31347490		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	20174623		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28976209, 31201352		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	18454162, 21574263, 27079839		★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	30335197		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22554099, 27403706, 28323504, 28963614		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30378008		★☆☆☆☆ Found in Text Mining only
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	20679884		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	UNIPROT_DG	12815589, 1430199, 1882842, 9334218		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CLINVAR_DG	12815589, 1430199, 26409463, 9334218		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	12815589, 1430199, 15159392, 16510302, 18289905, 20023066, 20736750, 23785301		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	1882842, 25929793		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	19265687, 22190129, 22231380, 23785301, 27443154, 30130320, 31169683, 31392824, 31418342		★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, mild type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	Multiple Acyl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26362997		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28884753		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30526286		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31005849, 31394818		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18043035, 20126590, 21491161, 22534715, 24294391, 28815334, 30451731, 30775032, 31809837		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12110339		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30582380		★☆☆☆☆ Found in Text Mining only
Neutral Lipid Storage Disease with Myopathy	Neutral lipid storage myopathy	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27855622, 28812378, 29462255, 29729495, 30775032		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30138581		★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28555109		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27958297		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	23219441		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30666443		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30949077		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	31727793		★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	28277869		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	22397560		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28879789, 30920855		★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20679884, 24618616		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30294275		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	12907368		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30138581		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30805745, 31230718		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31230705		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	19267417, 20126590		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31362663		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31362663		★☆☆☆☆ Found in Text Mining only
Trichilemmoma	Trichilemmoma	BEFREE	29570129		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	19208393		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	29679282		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	2658591		★☆☆☆☆ Found in Text Mining only