ACADVL (acyl-CoA dehydrogenase very long chain)

Gene

• Entrez ID: 37
• Gene name: Acyl-CoA dehydrogenase very long chain
• Gene symbol: ACADVL
• Synonyms (NCBI Gene): ACAD6, LCACD, VLCAD
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994167	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs113994168	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149467828	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs150149784	G>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200573371	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs200788251	G>A,C	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs201676770	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs387906252	AGA>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, inframe deletion, coding sequence variant
rs387906253	A>C,G	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs398123092	A>C	Pathogenic	Splice acceptor variant
rs753108198	CT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs761204548	GTTA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs764488310	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766192888	->GGCC	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs769280599	AGA>-	Uncertain-significance, likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs796051913	GAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs796051914	GAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs886044671	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057516843	T>-,TT	Likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517180	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555528386	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567564499	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022569	hsa-miR-124-3p	Microarray	18668037
MIRT023705	hsa-miR-1-3p	Proteomics	18668040
MIRT039914	hsa-miR-615-3p	CLASH	23622248
MIRT038930	hsa-miR-31-3p	CLASH	23622248
MIRT761647	hsa-miR-128	CLIP-seq
MIRT761648	hsa-miR-1292	CLIP-seq
MIRT761649	hsa-miR-2278	CLIP-seq
MIRT761650	hsa-miR-302a	CLIP-seq
MIRT761651	hsa-miR-302b	CLIP-seq
MIRT761652	hsa-miR-302c	CLIP-seq
MIRT761653	hsa-miR-302d	CLIP-seq
MIRT761654	hsa-miR-302e	CLIP-seq
MIRT761655	hsa-miR-3127-3p	CLIP-seq
MIRT761656	hsa-miR-372	CLIP-seq
MIRT761657	hsa-miR-373	CLIP-seq
MIRT761658	hsa-miR-3918	CLIP-seq
MIRT761659	hsa-miR-4269	CLIP-seq
MIRT761660	hsa-miR-4471	CLIP-seq
MIRT761661	hsa-miR-4477b	CLIP-seq
MIRT761662	hsa-miR-4512	CLIP-seq
MIRT761663	hsa-miR-4646-5p	CLIP-seq
MIRT761664	hsa-miR-4685-5p	CLIP-seq
MIRT761665	hsa-miR-4690-5p	CLIP-seq
MIRT761666	hsa-miR-4704-5p	CLIP-seq
MIRT761667	hsa-miR-4731-5p	CLIP-seq
MIRT761668	hsa-miR-4747-3p	CLIP-seq
MIRT761669	hsa-miR-512-3p	CLIP-seq
MIRT761670	hsa-miR-519a	CLIP-seq
MIRT761671	hsa-miR-519b-3p	CLIP-seq
MIRT761672	hsa-miR-519c-3p	CLIP-seq
MIRT761673	hsa-miR-520a-3p	CLIP-seq
MIRT761674	hsa-miR-520b	CLIP-seq
MIRT761675	hsa-miR-520c-3p	CLIP-seq
MIRT761676	hsa-miR-520d-3p	CLIP-seq
MIRT761677	hsa-miR-520e	CLIP-seq
MIRT761678	hsa-miR-526b	CLIP-seq
MIRT1924565	hsa-miR-124	CLIP-seq
MIRT761649	hsa-miR-2278	CLIP-seq
MIRT1924566	hsa-miR-2682	CLIP-seq
MIRT761650	hsa-miR-302a	CLIP-seq
MIRT761651	hsa-miR-302b	CLIP-seq
MIRT761652	hsa-miR-302c	CLIP-seq
MIRT761653	hsa-miR-302d	CLIP-seq
MIRT761654	hsa-miR-302e	CLIP-seq
MIRT1924567	hsa-miR-3126-5p	CLIP-seq
MIRT761656	hsa-miR-372	CLIP-seq
MIRT761657	hsa-miR-373	CLIP-seq
MIRT761658	hsa-miR-3918	CLIP-seq
MIRT1924568	hsa-miR-4419a	CLIP-seq
MIRT761661	hsa-miR-4477b	CLIP-seq
MIRT1924569	hsa-miR-449c	CLIP-seq
MIRT1924570	hsa-miR-4510	CLIP-seq
MIRT761662	hsa-miR-4512	CLIP-seq
MIRT761664	hsa-miR-4685-5p	CLIP-seq
MIRT761665	hsa-miR-4690-5p	CLIP-seq
MIRT1924571	hsa-miR-4747-5p	CLIP-seq
MIRT1924572	hsa-miR-506	CLIP-seq
MIRT761670	hsa-miR-519a	CLIP-seq
MIRT761671	hsa-miR-519b-3p	CLIP-seq
MIRT761672	hsa-miR-519c-3p	CLIP-seq
MIRT761673	hsa-miR-520a-3p	CLIP-seq
MIRT761674	hsa-miR-520b	CLIP-seq
MIRT761675	hsa-miR-520c-3p	CLIP-seq
MIRT761676	hsa-miR-520d-3p	CLIP-seq
MIRT761677	hsa-miR-520e	CLIP-seq
MIRT761678	hsa-miR-526b	CLIP-seq
MIRT1924573	hsa-miR-582-3p	CLIP-seq
MIRT761647	hsa-miR-128	CLIP-seq
MIRT761648	hsa-miR-1292	CLIP-seq
MIRT761660	hsa-miR-4471	CLIP-seq
MIRT761663	hsa-miR-4646-5p	CLIP-seq
MIRT761666	hsa-miR-4704-5p	CLIP-seq
MIRT761667	hsa-miR-4731-5p	CLIP-seq
MIRT761668	hsa-miR-4747-3p	CLIP-seq
MIRT761669	hsa-miR-512-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA
GO:0001659	Process	Temperature homeostasis	IEA
GO:0001659	Process	Temperature homeostasis	ISS
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	9461620, 9599005
GO:0004466	Function	Long-chain fatty acyl-CoA dehydrogenase activity	IDA	7668252
GO:0004466	Function	Long-chain fatty acyl-CoA dehydrogenase activity	IEA
GO:0004466	Function	Long-chain fatty acyl-CoA dehydrogenase activity	TAS	8466512
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9461620
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0009062	Process	Fatty acid catabolic process	IEA
GO:0009409	Process	Response to cold	IEA
GO:0015980	Process	Energy derivation by oxidation of organic compounds	TAS	7479827
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0017099	Function	Very-long-chain fatty acyl-CoA dehydrogenase activity	IBA
GO:0017099	Function	Very-long-chain fatty acyl-CoA dehydrogenase activity	IDA	9461620
GO:0017099	Function	Very-long-chain fatty acyl-CoA dehydrogenase activity	IEA
GO:0030855	Process	Epithelial cell differentiation	IEP	21492153
GO:0031966	Component	Mitochondrial membrane	IDA	16020546
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	7668252
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	9599005
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042802	Function	Identical protein binding	IDA	9461620, 9599005
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	ISS
GO:0046322	Process	Negative regulation of fatty acid oxidation	IEA
GO:0046322	Process	Negative regulation of fatty acid oxidation	ISS
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	9461620
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0090181	Process	Regulation of cholesterol metabolic process	ISS

Other IDs

• MIM: 609575
• HGNC: 92
• e!Ensembl: ENSG00000072778

Protein

• UniProt ID: P49748
• Protein name: Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (VLCAD) (EC 1.3.8.9)
• Protein function: Very long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the producti
• PDB: 2UXW, 3B96, 7S7G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02771	Acyl-CoA_dh_N	95 → 209	Acyl-CoA dehydrogenase, N-terminal domain	Domain
  PF02770	Acyl-CoA_dh_M	213 → 315	Acyl-CoA dehydrogenase, middle domain	Domain
  PF00441	Acyl-CoA_dh_1	327 → 476	Acyl-CoA dehydrogenase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in heart and skeletal muscle (at protein level). Also detected in kidney and liver (at protein level). {ECO:0000269|PubMed:8845838}.
• Sequence:

  MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDAL
  TRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPA
  KNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGA
  HQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKY
  YTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKM
  GIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAV
  DHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKI
  FGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDK
  GKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRAL
  EQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEK
  MLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF

• Sequence length: 655

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
Abnormal circulating enzyme concentration	Likely pathogenic; Pathogenic	rs118204016, rs63750670	RCV001003625 RCV001003624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs886044671, rs2071345821	RCV001814268 RCV001814269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ACADVL-related disorder	Likely pathogenic; Pathogenic	rs751556332, rs387906251, rs118204017, rs786204713, rs545215807, rs796051913, rs751995154, rs796051917, rs769280599, rs886044671, rs2508258826, rs2508350728, rs749159573, rs113994171, rs113994167, rs1057516686, rs1085307648, rs149467828, rs1567567440, rs1597520263, rs398123091	RCV004754831 RCV003430629 RCV003914796 RCV004754327 RCV003416111 RCV003398921 RCV003407682 RCV004754340 RCV003417879 RCV003417926 RCV003391631 RCV003418962 RCV004754390 RCV003904852 RCV004754267 RCV003401388 RCV003409673 RCV003420192 RCV003947928 RCV003392608 RCV004754294	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs140629318, rs112406105, rs113994167	RCV005865267 RCV005865268 RCV005865189	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiac arrhythmia	Pathogenic	rs1057516843	RCV001841276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs1057517386, rs398123092	RCV005900640 RCV005908958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs1555527745	RCV005924216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs200771970	RCV005892136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs1555527877	RCV005892137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs775537775	RCV005899779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic; Likely pathogenic	rs751995154, rs138058572	RCV000414939 RCV000415274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic; Likely pathogenic	rs1555527877, rs1597537351	RCV005892138 RCV005902046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Likely pathogenic	rs753922855	RCV004813188	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyolysis	Likely pathogenic; Pathogenic	rs118204016, rs751995154, rs138058572, rs63750670	RCV001003625 RCV000414939 RCV000415274 RCV001003624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs2071346311, rs2071413180, rs1597518954, rs2142979402, rs2142980883, rs2142981920, rs1567560601, rs2142964399, rs2142969054, rs1186576451, rs2142984544, rs398123091, rs2142969688, rs764028320, rs753922855, rs2142976616, rs398123082, rs2142982389, rs2142982293, rs781467053, rs2142976531, rs2142969408, rs1460246415, rs2142977168, rs751556332, rs141167669, rs1555527745, rs2142988018, rs2142987900, rs1205407134, rs772898391, rs370282954, rs1597539537, rs533055438, rs2142969951, rs2142960989, rs2142967119, rs771874163, rs2142969858, rs2142965332, rs2142990005, rs2142978093, rs2142963941, rs1451455641, rs2142969655, rs2142982040, rs2142974010, rs886043236, rs113690956, rs118204014, rs387906249, rs387906251, rs118204015, rs118204017, rs118204018, rs118204016, rs2142985073, rs2142990593, rs770961747, rs780020193, rs1329022268, rs1057517012, rs1057516370, rs2508253534, rs727503791, rs140629318, rs727503788, rs727503794, rs2508297195, rs2508306370, rs2508284722, rs2508284485, rs2508265880, rs2071252641, rs2508357253, rs2508305585, rs2476334676, rs2508320212, rs2508354753, rs2071366876, rs2508360592, rs786204713, rs786204738, rs786204536, rs753108198, rs534647044, rs2508361978, rs2071234346, rs794727112, rs794727113, rs2508247269, rs2508349575, rs796051912, rs1555527877, rs796051908, rs796051909, rs545215807, rs796051913, rs112406105, rs748077880, rs766742117, rs796051916, rs751995154, rs200771970, rs796051917, rs755981642, rs2508354202, rs2508258187, rs2508231433, rs2508249216, rs2508366072, rs2508305732, rs2508249449, rs2508341426, rs2508304063, rs2071184414, rs2508229196, rs2508283122, rs1567561598, rs2508316951, rs2508355015, rs775203527, rs2508367317, rs2508315272, rs2071111529, rs2508285029, rs2508361920, rs2508302724, rs1597518019, rs2508305639, rs2508345221, rs2508248996, rs2508297103, rs2508341456, rs1597533847, rs2508317962, rs769280599, rs2508353112, rs886044671, rs2508299927, rs2508373061, rs775980475, rs2508314332, rs2508263492, rs2508305314, rs2508350535, rs1354996048, rs2508284530, rs2508315633, rs371407903, rs750675692, rs2508262559, rs2508280933, rs2508252304, rs757409401, rs2508235802, rs1555527532, rs113235875, rs2508341183, rs2508253326, rs2508330212, rs2508296669, rs2508341139, rs2508361633, rs1240846419, rs2508329971, rs2142959784, rs2508315342, rs2508257885, rs1305511499, rs2508373099, rs2508303394, rs1027833102, rs2508373035, rs2508297245, rs200117742, rs2508350455, rs2508361079, rs2508282514, rs767941627, rs139425622, rs2508306468, rs2508353883, rs2508373591, rs2508371162, rs1208459885, rs375284481, rs2508262596, rs2508283200, rs398123079, rs2071225938, rs1454430871, rs2508366039, rs2508369819, rs2508318485, rs2071184953, rs2508344385, rs768471244, rs996348255, rs2508353313, rs2508318094, rs751002045, rs2508315455, rs387906253, rs2508281146, rs2508367512, rs2508339892, rs2508361555, rs2071313606, rs1239346965, rs766001030, rs2071286530, rs2508344039, rs748450834, rs1452949965, rs199876141, rs2508367351, rs1282005622, rs2508232527, rs1331739604, rs2508285392, rs1398874051, rs2508317139, rs2508299246, rs2508297411, rs2142974234, rs1325289676, rs767849841, rs749159573, rs2309689, rs113994171, rs113994168, rs113994167, rs2508357355, rs2071371841, rs746213168, rs2508345503, rs2508372907, rs2508371476, rs1057516817, rs1057516979, rs1057517130, rs1057516369, rs1057516714, rs761204548, rs200788251, rs766192888, rs1057517180, rs1057516843, rs1057516686, rs140989450, rs1057517416, rs1057517281, rs1057516818, rs1057516519, rs1057517280, rs1057517331, rs111851815, rs1057517386, rs1057516226, rs1057518506, rs1057518411, rs138058572, rs1057520088, rs1057520507, rs1060499596, rs758144859, rs1064796104, rs1085307648, rs775537775, rs1131691553, rs1555527495, rs201676770, rs1555528937, rs1432183079, rs904631654, rs1555528737, rs1555527513, rs1555528304, rs1555528386, rs1443151475, rs539029862, rs1555528367, rs1555529044, rs1555527464, rs747351687, rs771055189, rs1452339268, rs1555527907, rs768236474, rs1555528804, rs1555527732, rs113467582, rs771808680, rs1555529048, rs1555529204, rs1452402269, rs764488310, rs1555528635, rs1555528745, rs1555527450, rs1555527806, rs768975918, rs1555528265, rs149467828, rs773401248, rs1555527741, rs1555528508, rs1555529004, rs1567565643, rs746860401, rs1567564499, rs1567567440, rs765432568, rs1567566228, rs1567569262, rs1597520263, rs1597525249, rs1597534677, rs1597534796, rs1175359422, rs1597537351, rs1597524963, rs1597526782, rs63750670, rs1281137823, rs2071123075, rs2071185757, rs1258134795, rs2071233789, rs2071255080, rs1197133430, rs2071288883, rs762619071, rs1214222702, rs2071288305, rs2071345821, rs1189763523, rs2071395559, rs2071119862, rs2071146837, rs2071168842, rs370146676, rs1337636757, rs1597525536, rs2071253904, rs2071254166, rs2071256607, rs2071258420, rs2071266269, rs2071269046, rs771247610, rs2071289046, rs2071295244, rs1227564457, rs1343647718, rs2071296591, rs1402646371, rs2071337202, rs2071371983, rs2071373150, rs2071393587, rs2071395312, rs1298004609, rs398123092, rs2071286355, rs2071401309, rs2071185652, rs1247360325, rs1489679976, rs2071264706, rs1231343685, rs2071316298, rs2071356603, rs757946752, rs2071286572, rs371910495, rs2071384107, rs2071251239, rs398123080, rs398123083, rs369560930, rs398123090, rs387906252, rs1460278489	RCV001316134 RCV001339031 RCV001377749 RCV001378846 RCV001377567 RCV001378645 RCV001385928 RCV001390336 RCV001388139 RCV001386322 RCV001386531 RCV001803373 RCV001580623 RCV001779476 RCV001802604 RCV001928524 RCV001994560 RCV001941824 RCV001953028 RCV001893228 RCV001992797 RCV001999308 RCV001943414 RCV001965524 RCV002041173 RCV001946539 RCV001933755 RCV001945962 RCV001939664 RCV001872874 RCV001960667 RCV002042935 RCV001988268 RCV002038041 RCV002033275 RCV001967665 RCV001970026 RCV001952657 RCV001972837 RCV002045963 RCV001956110 RCV002045649 RCV002023074 RCV001951405 RCV001980227 RCV001949554 RCV001896255 RCV001979788 RCV001934084 RCV000001689 RCV000001690 RCV000001691 RCV000001693 RCV000001695 RCV000001699 RCV000001700 RCV000001701 RCV002249222 RCV002249223 RCV002272871 RCV002286684 RCV002286685 RCV002286686 RCV002286687 RCV002286691 RCV000675106 RCV000702574 RCV000985184 RCV003453143 RCV002306645 RCV002306666 RCV002309765 RCV002309774 RCV002308148 RCV002308349 RCV002309010 RCV002309489 RCV002307234 RCV002310134 RCV002310514 RCV002308456 RCV002472387 RCV000169528 RCV000169585 RCV000169238 RCV000169392 RCV003041270 RCV003086036 RCV002581887 RCV002592007 RCV000410559 RCV000174654 RCV002615796 RCV000180089 RCV002667539 RCV002259319 RCV001200672 RCV000675132 RCV000671223 RCV000412436 RCV000527513 RCV000675110 RCV000411732 RCV001200810 RCV000652041 RCV000538432 RCV000412089 RCV000410771 RCV000666299 RCV002705466 RCV002711599 RCV002740573 RCV002717372 RCV002819852 RCV002791130 RCV002801691 RCV002828213 RCV002834120 RCV002856887 RCV002862255 RCV002838630 RCV002862577 RCV002876117 RCV002895688 RCV002900336 RCV002877497 RCV002895064 RCV002953342 RCV002974977 RCV002996927 RCV003022792 RCV003041830 RCV003046297 RCV003029548 RCV003033174 RCV003043075 RCV003036126 RCV003036760 RCV005021715 RCV003134956 RCV003164885 RCV003164887 RCV000271659 RCV003239316 RCV001200803 RCV003465088 RCV003465163 RCV003474375 RCV003474402 RCV003460223 RCV003460225 RCV003460227 RCV003460234 RCV003474404 RCV003474406 RCV003474414 RCV003474417 RCV003474421 RCV003460243 RCV003460244 RCV003460246 RCV003460248 RCV003460250 RCV003460253 RCV003460259 RCV003460267 RCV003460269 RCV003460272 RCV003460275 RCV003474423 RCV003455820 RCV003486300 RCV003498180 RCV003498212 RCV003498223 RCV003498099 RCV003498101 RCV003498138 RCV003498954 RCV003499222 RCV003498913 RCV003499016 RCV003499209 RCV003499620 RCV003499625 RCV003499835 RCV003499698 RCV003499998 RCV003499977 RCV003497366 RCV003497528 RCV003497662 RCV003497768 RCV003498585 RCV003498435 RCV003498560 RCV003498313 RCV003499317 RCV003499375 RCV003499383 RCV003498625 RCV003499350 RCV003600504 RCV003600487 RCV003600721 RCV003600685 RCV003600762 RCV003601398 RCV003601428 RCV003601656 RCV003601830 RCV003601676 RCV003602071 RCV003602283 RCV003602451 RCV003602475 RCV003602300 RCV003602302 RCV003602328 RCV003602440 RCV003599885 RCV003602528 RCV003599893 RCV003599987 RCV003599913 RCV003599947 RCV003599951 RCV003600038 RCV003600316 RCV003600295 RCV003600304 RCV003600308 RCV003600335 RCV003601255 RCV003601140 RCV003601294 RCV003601298 RCV003602008 RCV003601871 RCV003815934 RCV003812104 RCV003811712 RCV003838264 RCV003833955 RCV003846478 RCV003865805 RCV003860412 RCV003872432 RCV003864987 RCV003864833 RCV003878694 RCV000373221 RCV000020072 RCV000031857 RCV000020080 RCV000020081 RCV004573969 RCV004573986 RCV004573989 RCV004574008 RCV004575423 RCV004575429 RCV004586515 RCV000410269 RCV000412197 RCV000410821 RCV000411583 RCV000412008 RCV000410797 RCV000410749 RCV000408960 RCV000409715 RCV000412387 RCV000410931 RCV000409885 RCV000411230 RCV000412397 RCV000411047 RCV000411060 RCV000409783 RCV000409279 RCV000412097 RCV000411741 RCV000409489 RCV000411534 RCV000411804 RCV000411935 RCV002286572 RCV003168603 RCV001075888 RCV000690847 RCV000537328 RCV000477936 RCV000671508 RCV003322775 RCV000675075 RCV001200759 RCV001785638 RCV000664668 RCV000529486 RCV000666633 RCV003464115 RCV000556767 RCV000544920 RCV000548112 RCV000551302 RCV000556138 RCV000531909 RCV000586725 RCV000625573 RCV000652031 RCV000652036 RCV000652045 RCV000652037 RCV000652039 RCV000673805 RCV000665642 RCV000669061 RCV000667548 RCV000675043 RCV000670134 RCV000668561 RCV000671153 RCV000669283 RCV000667158 RCV000671155 RCV000667604 RCV000673234 RCV000673345 RCV000668695 RCV000670204 RCV000667334 RCV000673169 RCV000667776 RCV000665413 RCV000672219 RCV000673162 RCV000666689 RCV000671828 RCV000673848 RCV000671502 RCV000665640 RCV000667710 RCV000670489 RCV000705209 RCV000690630 RCV000704804 RCV000693564 RCV001200811 RCV000989692 RCV002286576 RCV000761524 RCV000803389 RCV000805756 RCV000817615 RCV000813712 RCV000818697 RCV000793280 RCV000800818 RCV000801039 RCV000812878 RCV000995475 RCV001001446 RCV001000184 RCV002472377 RCV001385902 RCV001063280 RCV001042754 RCV001062442 RCV001050460 RCV001047888 RCV001059797 RCV001063279 RCV001059445 RCV001041821 RCV001873444 RCV001075884 RCV001200727 RCV001828597 RCV001199839 RCV001200784 RCV001200670 RCV001200840 RCV001200673 RCV001200674 RCV001200733 RCV001200675 RCV001200841 RCV001200780 RCV001200799 RCV001200801 RCV001200802 RCV001200782 RCV001200804 RCV001200805 RCV001200834 RCV001200835 RCV001200806 RCV001200807 RCV001200808 RCV001200809 RCV001200710 RCV001200785 RCV001200844 RCV001200787 RCV001200788 RCV001200671 RCV001200800 RCV001200781 RCV001200843 RCV001200786 RCV001200789 RCV001223162 RCV001213341 RCV001203253 RCV001204462 RCV001210822 RCV001205724 RCV001207427 RCV001211019 RCV001209701 RCV001226208 RCV001233556 RCV001226404 RCV001246701 RCV001236568 RCV001239427 RCV002513812 RCV002286566 RCV000169627 RCV000179696 RCV001200734 RCV000169301 RCV000180449 RCV000001694 RCV001299779	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pearson syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VLCAD DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YORIFUJI OKUNO SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	18156936		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	LHGDN	18156936		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	18156936		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	18156936		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37957550	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24801231, 7479827		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32518924, 7479827	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30840296	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	29768383, 37498360	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	29459657	Associate	★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	30840296	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25242572		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36894992	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29768383		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29768383		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	24801231		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	26385305, 32518924	Associate	★☆☆☆☆ Found in Text Mining only
Hypoproteinemia	Hypoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	19889959	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	19889959	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33720355	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33720355	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	GENOMICS_ENGLAND_DG	25929793		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24801231		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37285835	Associate	★☆☆☆☆ Found in Text Mining only
Pearson`s marrow-pancreas syndrome	Pearson`s Marrow-Pancreas Syndrome	CLINVAR_DG	11349232, 17374501, 20107901, 21932095, 23480858, 8845838		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	29768383		★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	29768383	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30993714		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	25843429, 32518924, 32669490, 32978841	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25242572		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	20425236		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	29459657	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	UNIPROT_DG	10077518, 8554073, 9546340		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	CLINVAR_DG	10077518, 10384387, 10431122, 10738914, 11158518, 11590124, 11914034, 12122118, 12213615, 12893739, 14517516, 15210884, 16443431, 16464760, 16488171, 16950999, 17206456, 17374501, 17514507, 17999356, 18227065, 18670371, 19208414, 19327992, 20060901, 20107901, 20480395, 21378393, 21429517, 21531094, 21814341, 21932095, 22841441, 22847164, 23418865, 23430950, 23480858, 23774949, 23798014, 23867825, 24263034, 24305961, 24503138, 24801231, 24898617, 25087612, 25214167, 25242572, 25338548, 25456746, 25525159, 25652019, 25655073, 25834949, 26182500, 26385305, 26453363, 26881790, 26927351, 26937394, 27029698, 27209629, 27246109, 27943070, 27995075, 28755359, 29111448, 29552494, 4022672, 7479827, 7769092, 8554073, 8845838, 9546340, 9709714, 9839948, 9973285		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	CLINGEN_DG	11590124, 12609736, 12893739, 1730632, 27209629, 7668252, 7769092, 8845838		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	19208414, 19649258, 23480858, 24801231, 25242572, 25843429, 26385305, 30194637, 31028847, 31794763, 7479827		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	CTD_human_DG	20060901		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	25929793, 27604308, 8554073, 9973285		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	18227065, 19649258, 7479827, 7668252	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	20060901, 25843429, 26385305, 29768383, 30840296, 32518924, 32558070, 32669490, 33150772, 35218577, 36207828, 40428360, 40678976, 7479827, 9599005, 9839948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only