CPT2 (carnitine palmitoyltransferase 2)

Gene

• Entrez ID: 1376
• Gene name: Carnitine palmitoyltransferase 2
• Gene symbol: CPT2
• Synonyms (NCBI Gene): CPT1, CPTASE, IIAE4
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799821	G>A	Benign, risk-factor	Coding sequence variant, missense variant
rs2229291	T>G	Likely-benign, benign, risk-factor	Coding sequence variant, missense variant
rs17848485	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs28936375	C>A	Pathogenic	Coding sequence variant, missense variant
rs28936376	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28936673	A>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs28936674	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs74315293	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315294	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315295	T>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315296	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315297	T>C	Uncertain-significance, benign, pathogenic, other	Missense variant, coding sequence variant
rs74315298	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315299	G>T	Pathogenic	Stop gained, coding sequence variant
rs74315300	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918528	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs144658100	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147276580	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147953465	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148035648	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148110518	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs186044004	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs192779168	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199673903	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs201065226	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs368311455	C>T	Pathogenic	Missense variant, coding sequence variant
rs397509431	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs515726173	GAACCCTGCAAAAAGTGACACTATC>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe indel
rs515726174	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726175	A>G	Pathogenic	Coding sequence variant, missense variant
rs515726176	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs515726177	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs515726178	C>-	Pathogenic	Coding sequence variant, stop gained
rs515726179	AGGCCTTAGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503887	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs749895856	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs754363068	->GC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs754386565	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755395180	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755830520	T>A,C,G	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs756931329	A>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs760255368	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs761438840	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs762366252	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764849762	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs767004984	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771214714	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786204647	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs917744011	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517473	T>G	Likely-pathogenic	Splice donor variant, intron variant
rs1057517477	CTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517492	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057517493	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517494	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517507	AGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517510	->GGGAGCCCCCAGTCGGCCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517515	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517517	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057517525	C>TA	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517729	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1131691330	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131691925	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1187631754	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1195259425	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1229197873	C>-,CCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1238901632	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1317793581	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1469108369	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553168850	CCTCAGCGCCGGCTCCGGGCCCGGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169106	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169598	TTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169629	->GTAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169666	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169716	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169720	AATA>TTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169726	AC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169771	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553169787	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553169813	->C	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553169973	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170005	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553170029	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553170033	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557713988	G>A	Pathogenic	Splice acceptor variant
rs1557718075	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1557719455	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572385947	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1572385973	TGGTTGA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025385	hsa-miR-34a-5p	Proteomics	21566225
MIRT043910	hsa-miR-378a-3p	CLASH	23622248
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT440883	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT907797	hsa-miR-129-5p	CLIP-seq
MIRT907798	hsa-miR-3672	CLIP-seq
MIRT907799	hsa-miR-4438	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT907801	hsa-miR-5095	CLIP-seq
MIRT907802	hsa-miR-720	CLIP-seq
MIRT1969097	hsa-miR-21	CLIP-seq
MIRT1969098	hsa-miR-2682	CLIP-seq
MIRT1969099	hsa-miR-3135	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969103	hsa-miR-449c	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT1969105	hsa-miR-4698	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT1969107	hsa-miR-4731-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT1969109	hsa-miR-590-5p	CLIP-seq
MIRT1969110	hsa-miR-940	CLIP-seq
MIRT2205091	hsa-miR-197	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT2205093	hsa-miR-3187-3p	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205094	hsa-miR-371-5p	CLIP-seq
MIRT2205095	hsa-miR-371b-5p	CLIP-seq
MIRT2205096	hsa-miR-411	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT2205097	hsa-miR-4435	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205098	hsa-miR-4701-5p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT1969106	hsa-miR-4716-5p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT1969108	hsa-miR-4781-3p	CLIP-seq
MIRT2205102	hsa-miR-5096	CLIP-seq
MIRT2205103	hsa-miR-548s	CLIP-seq
MIRT2205104	hsa-miR-588	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2205106	hsa-miR-624	CLIP-seq
MIRT2447563	hsa-miR-4720-3p	CLIP-seq
MIRT2447564	hsa-miR-4804-3p	CLIP-seq
MIRT2447565	hsa-miR-544	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT2205092	hsa-miR-3149	CLIP-seq
MIRT1969100	hsa-miR-3622a-5p	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT1969102	hsa-miR-4423-3p	CLIP-seq
MIRT1969104	hsa-miR-4695-3p	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2508432	hsa-miR-4772-3p	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2508433	hsa-miR-498	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq
MIRT2508431	hsa-miR-1343	CLIP-seq
MIRT1969101	hsa-miR-3650	CLIP-seq
MIRT2205099	hsa-miR-4715-3p	CLIP-seq
MIRT2205100	hsa-miR-4735-5p	CLIP-seq
MIRT907800	hsa-miR-4743	CLIP-seq
MIRT2205101	hsa-miR-4775	CLIP-seq
MIRT2205105	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	20538056
GO:0001701	Process	In utero embryonic development	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	EXP	7711730, 20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IBA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IDA	20538056
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	IEA
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	NAS	1988962
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	1988962
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	20538056
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006853	Process	Carnitine shuttle	IEA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0008458	Function	Carnitine O-octanoyltransferase activity	IEA
GO:0009437	Process	Carnitine metabolic process	IDA	20538056
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IDA	20538056
GO:0016746	Function	Acyltransferase activity	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	25578732

Other IDs

• MIM: 600650
• HGNC: 2330
• e!Ensembl: ENSG00000157184

Protein

• UniProt ID: P23786
• Protein name: Carnitine O-palmitoyltransferase 2, mitochondrial (EC 2.3.1.21) (Carnitine palmitoyltransferase II) (CPT II)
• Protein function: Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00755	Carn_acyltransf	49 → 648	Choline/Carnitine o-acyltransferase	Family

• Sequence:

  MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT
  IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY
  LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP
  AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
  RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA
  ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII
  AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT
  DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
  QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG
  QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG
  GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS

• Sequence length: 658

Pathways

KEGG:

Fatty acid degradation
Fatty acid metabolism
PPAR signaling pathway
Thermogenesis
Diabetic cardiomyopathy

Reactome:

PPARA activates gene expression
Carnitine metabolism

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
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs74315294	RCV001813968	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs74315295	RCV001270097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs74315294	RCV005887396	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Pathogenic; Likely pathogenic	rs772240606, rs1057517729, rs397509431	RCV005865560 RCV005865307 RCV005865229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenocortical carcinoma, hereditary	Likely pathogenic; Pathogenic	rs74315294	RCV005887399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carnitine palmitoyl transferase II deficiency, myopathic form	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs772240606, rs539239516, rs515726177, rs1446745791, rs727503887, rs2525558530, rs2525566830, rs756931329, rs2525570359, rs201065226, rs1416248797, rs74315293, rs74315294, rs28936375, rs28936376, rs28936673, rs74315295, rs74315296, rs74315298, rs74315299, rs74315300, rs121918528, rs2525558154, rs1057517510, rs1057517493, rs1057517494, rs754363068, rs755830520, rs1057517515, rs761438840, rs1057517492, rs1057517525, rs1057517507, rs754386565, rs1057517477, rs1057517517, rs1057517473, rs767004984, rs1057517729, rs917744011, rs1238901632, rs1553169716, rs1553169799, rs1553169720, rs1553170005, rs1553169813, rs760255368, rs1557718075, rs1557719455, rs908749525, rs1645445189, rs752468216, rs397509431	RCV005014717 RCV005014518 RCV005014536 RCV002249838 RCV005014550 RCV002477298 RCV005025510 RCV002498726 RCV002306739 RCV002310052 RCV002310462 RCV000762944 RCV005021659 RCV000411770 RCV005019460 RCV000415574 RCV000009510 RCV000009511 RCV000009513 RCV000415611 RCV000009518 RCV000009519 RCV002496314 RCV000009528 RCV000009529 RCV000409888 RCV005021996 RCV000409552 RCV000412215 RCV000410121 RCV000409793 RCV000410328 RCV000409430 RCV000409968 RCV000411620 RCV000409771 RCV000411622 RCV000410758 RCV000409947 RCV000411274 RCV000411662 RCV000409282 RCV002505999 RCV002483563 RCV005019054 RCV002493116 RCV005019101 RCV005019157 RCV005027795 RCV005027801 RCV005021088 RCV000754722 RCV002507406 RCV002481943 RCV005029587 RCV005029610 RCV002490673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyl transferase II deficiency, neonatal form	Likely pathogenic; Pathogenic	rs1645411052, rs200080591, rs749895856, rs1374482155, rs539239516, rs515726177, rs1446745791, rs727503887, rs2525558530, rs2525566830, rs756931329, rs2525570359, rs201065226, rs1416248797, rs74315293, rs74315294, rs28936375, rs74315295, rs74315296, rs1557713988, rs74315298, rs121918528, rs2525558154, rs1057517510, rs1057517493, rs1057517494, rs754363068, rs755830520, rs1057517515, rs761438840, rs1057517492, rs1057517525, rs1057517507, rs754386565, rs1057517477, rs1057517517, rs1057517473, rs767004984, rs1057517729, rs917744011, rs1238901632, rs1553169716, rs1553169799, rs1553169720, rs1553170005, rs1553169813, rs760255368, rs1557718075, rs1572385947, rs1557719455, rs771214714, rs908749525, rs1645445189, rs752468216, rs778743524, rs397509431	RCV005361767 RCV005014717 RCV005014518 RCV005014536 RCV005014550 RCV002477298 RCV005025510 RCV002498726 RCV002306739 RCV002310052 RCV002310462 RCV000762944 RCV005021659 RCV000410924 RCV005019460 RCV002476950 RCV000194764 RCV000762941 RCV000411002 RCV001004160 RCV000009524 RCV000009526 RCV000408956 RCV005021996 RCV000412110 RCV000410873 RCV000409193 RCV000411956 RCV000408985 RCV000412442 RCV000409099 RCV000411103 RCV000412327 RCV000410673 RCV000409790 RCV000409024 RCV000410441 RCV000410325 RCV000411459 RCV002505999 RCV002483563 RCV005019054 RCV002493116 RCV005019101 RCV005019157 RCV005027795 RCV005027801 RCV005021088 RCV005029406 RCV001004161 RCV002507406 RCV001030040 RCV002481943 RCV005029587 RCV005029610 RCV001281244 RCV002490673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyl transferase II deficiency, severe infantile form	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs539239516, rs2100254724, rs771406546, rs515726177, rs1446745791, rs1287533399, rs727503887, rs2525558530, rs2525566830, rs786204647, rs755395180, rs756931329, rs2525570359, rs201065226, rs368311455, rs1416248797, rs74315293, rs74315294, rs28936375, rs28936376, rs28936673, rs28936674, rs74315295, rs74315296, rs74315298, rs121918528, rs2525558154, rs1057517510, rs1057517493, rs1057517494, rs754363068, rs755830520, rs1057517515, rs761438840, rs1057517492, rs1057517525, rs1057517507, rs754386565, rs1057517477, rs1057517517, rs1057517473, rs767004984, rs1057517729, rs1131691330, rs917744011, rs1238901632, rs1553169629, rs1195259425, rs1553169716, rs1469108369, rs1553169787, rs1229197873, rs1553170033, rs1553169598, rs762366252, rs1553169771, rs1553169799, rs1553169973, rs1553170029, rs1553168850, rs1553169106, rs1131691925, rs1553169666, rs1187631754, rs1553169720, rs1317793581, rs1553169726, rs1553170005, rs1553169813, rs760255368, rs1557718075, rs1572385947, rs1557719455, rs201966320, rs908749525, rs1645445189, rs752468216, rs1645358577, rs397509431	RCV003452000 RCV005014518 RCV003450072 RCV005014550 RCV001580675 RCV003451929 RCV000984253 RCV005025510 RCV002267554 RCV000169096 RCV002306739 RCV002310052 RCV002310462 RCV000169434 RCV000169371 RCV000169067 RCV005021659 RCV000409811 RCV003454485 RCV005019460 RCV000009508 RCV000515252 RCV000009512 RCV000675130 RCV000009514 RCV000009516 RCV000009517 RCV001004160 RCV000576348 RCV000009530 RCV005021996 RCV000411079 RCV000409757 RCV000411223 RCV000410888 RCV000411376 RCV000410982 RCV000411515 RCV000409596 RCV000410775 RCV000409126 RCV000411774 RCV000411439 RCV000409314 RCV000409646 RCV000410414 RCV000984251 RCV003449385 RCV000984252 RCV005019054 RCV000673661 RCV000669596 RCV000671888 RCV000674271 RCV000670266 RCV000667150 RCV000672774 RCV000673357 RCV000670602 RCV000666078 RCV000670434 RCV000664606 RCV000673171 RCV000673472 RCV000671434 RCV000668377 RCV000668773 RCV000668263 RCV000670313 RCV000673392 RCV000671985 RCV000665286 RCV000674530 RCV000668246 RCV000669311 RCV003453477 RCV005029406 RCV001004161 RCV002507406 RCV003455254 RCV002481943 RCV003455162 RCV003446598 RCV001175200 RCV000576522	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyltransferase II deficiency	Likely pathogenic; Pathogenic	rs1645411052, rs200080591, rs748182542, rs749895856, rs1374482155, rs2100259785, rs778895906, rs745547578, rs2100272595, rs2100274299, rs964928101, rs539239516, rs752373512, rs771406546, rs1553169716, rs200252755, rs515726175, rs515726177, rs2100274755, rs2100255111, rs2100261764, rs1645327989, rs1446745791, rs2100261957, rs2100272626, rs763889116, rs2100271968, rs2100272735, rs1645443101, rs2100261898, rs2100274025, rs2100279176, rs2100272823, rs2100254713, rs2100273480, rs766004699, rs751253358, rs1287533399, rs727503887, rs786204647, rs755395180, rs756931329, rs2525589836, rs1215020674, rs2525570359, rs370157946, rs201065226, rs368311455, rs2525570159, rs2525588396, rs2525586682, rs2525596432, rs1416248797, rs1401450508, rs2525558524, rs2525596435, rs2525589533, rs74315293, rs74315294, rs28936375, rs28936376, rs28936673, rs28936674, rs74315295, rs74315296, rs74315298, rs74315299, rs74315300, rs121918528, rs1645420669, rs757126340, rs2525588808, rs2525588822, rs2525587268, rs749243696, rs2525587370, rs1414678698, rs2525588857, rs777066875, rs2525589787, rs771486286, rs2525587773, rs1185037584, rs2525558003, rs2525590777, rs1645324873, rs957344521, rs777297837, rs1645359406, rs2525596224, rs1057517510, rs1057517493, rs754363068, rs1057517492, rs1057517525, rs1057517507, rs754386565, rs767004984, rs1057517729, rs1131691330, rs917744011, rs1553169975, rs1238901632, rs1553169629, rs762366252, rs1553169799, rs1553169973, rs1553170029, rs1131691925, rs1187631754, rs1317793581, rs1553169813, rs760255368, rs1572385947, rs1572385973, rs1557719455, rs201966320, rs1645350030, rs1645359135, rs1645414208, rs757881397, rs751557097, rs908749525, rs1645445189, rs752468216, rs1645424505, rs1645416288, rs1645442171, rs1645413342, rs1645416037, rs1645419457, rs1645421667, rs1557719450, rs778743524, rs397509431	RCV001880626 RCV001904234 RCV001359188 RCV001379072 RCV001386849 RCV001385036 RCV001388294 RCV001388482 RCV001389887 RCV001386807 RCV001385936 RCV001390611 RCV001526930 RCV002034545 RCV001894642 RCV001937061 RCV000202505 RCV000202567 RCV001960554 RCV002029765 RCV001905923 RCV001947223 RCV002007202 RCV001973953 RCV001891713 RCV001993391 RCV002007514 RCV001942147 RCV001939674 RCV001875028 RCV001911496 RCV001958568 RCV001958574 RCV001956469 RCV001963271 RCV001983055 RCV001965016 RCV004801181 RCV000539401 RCV002515200 RCV001850399 RCV000689502 RCV003076730 RCV003084242 RCV002627981 RCV002648155 RCV002663229 RCV000707179 RCV000778986 RCV002710400 RCV002816246 RCV002862775 RCV002928474 RCV002932167 RCV002939143 RCV002988541 RCV002993689 RCV003030176 RCV000202472 RCV000202499 RCV000202440 RCV004766994 RCV000202449 RCV000202437 RCV000202462 RCV000202513 RCV000202466 RCV001851765 RCV003581557 RCV000202546 RCV003741350 RCV003741358 RCV003581941 RCV003581961 RCV003582232 RCV003582392 RCV003582438 RCV003582632 RCV003581361 RCV003581239 RCV003581332 RCV003581419 RCV003582699 RCV003582958 RCV003583007 RCV003583094 RCV003741449 RCV003741523 RCV003741840 RCV003741880 RCV003740855 RCV003833853 RCV005637096 RCV005614406 RCV001861402 RCV001042031 RCV005090654 RCV000801602 RCV005090655 RCV002524627 RCV003741177 RCV001218021 RCV002524020 RCV000588722 RCV000635360 RCV000635361 RCV002531231 RCV001218379 RCV001861748 RCV003581704 RCV001855592 RCV002531338 RCV001377418 RCV002532099 RCV005091954 RCV002530652 RCV001215229 RCV000699884 RCV000781317 RCV000808205 RCV000809583 RCV001056378 RCV001070929 RCV001061642 RCV001070827 RCV001069385 RCV001054616 RCV001048609 RCV001038686 RCV001048269 RCV001042996 RCV001215599 RCV001219756 RCV001229235 RCV001226062 RCV001236821 RCV001227857 RCV001248419 RCV003741251 RCV000202516	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs74315294	RCV005887400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CPT2-related disorder	Likely pathogenic; Pathogenic	rs756931329, rs74315296, rs74315298, rs2100261957, rs2525596224, rs201966320	RCV003947445 RCV005249985 RCV003934818 RCV003416771 RCV003982619 RCV004746220	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalopathy, acute, infection-induced, susceptibility to, 4	Pathogenic; Likely pathogenic	rs200080591, rs749895856, rs1374482155, rs778895906, rs539239516, rs515726177, rs1446745791, rs766004699, rs751253358, rs727503887, rs756931329, rs2525570359, rs370157946, rs201065226, rs368311455, rs2525570159, rs1416248797, rs74315293, rs74315294, rs28936375, rs28936674, rs74315295, rs74315296, rs74315298, rs121918528, rs2525590337, rs2525558154, rs1645420669, rs2525590396, rs2525596685, rs2525589542, rs757126340, rs2525566859, rs2525589156, rs2525587684, rs2525589804, rs2525558408, rs2525588822, rs2525589787, rs2525589710, rs2525590120, rs2525590698, rs2525557943, rs2525589800, rs2525596168, rs759086398, rs1057517493, rs754363068, rs1057517515, rs1057517492, rs754386565, rs1057517477, rs1057517729, rs1131691330, rs917744011, rs1238901632, rs1553169629, rs1553169716, rs1553169787, rs762366252, rs1553169799, rs1553170029, rs1187631754, rs1553169720, rs1553170005, rs1553169813, rs760255368, rs1557718075, rs1572385947, rs1557719455, rs201966320, rs1645359135, rs751557097, rs908749525, rs1645445189, rs752468216, rs397509431	RCV003475122 RCV004570933 RCV003473972 RCV003473985 RCV003473998 RCV002477298 RCV005025510 RCV003475259 RCV003475190 RCV002498726 RCV000762944 RCV005021659 RCV003475410 RCV002500569 RCV003474941 RCV003475413 RCV003475453 RCV002476950 RCV000515252 RCV000762941 RCV003473064 RCV000762943 RCV002490348 RCV003473067 RCV000762942 RCV003475730 RCV003475731 RCV003475732 RCV003475733 RCV003475735 RCV003475736 RCV003475737 RCV003475738 RCV003475739 RCV003475740 RCV003475741 RCV003475742 RCV004574060 RCV004574089 RCV004575686 RCV004575688 RCV004575689 RCV004575690 RCV004575692 RCV004575693 RCV004575694 RCV002481265 RCV003475976 RCV003475987 RCV005018706 RCV000762945 RCV003475981 RCV002505999 RCV003476186 RCV002483563 RCV003471991 RCV004568527 RCV002493116 RCV003472085 RCV003472075 RCV005019101 RCV003472156 RCV003472124 RCV004568553 RCV005027795 RCV004568523 RCV003472233 RCV003472272 RCV003472318 RCV002507406 RCV003473661 RCV004570250 RCV003473653 RCV002481943 RCV003473618 RCV003473635 RCV002490673	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs74315294	RCV005887405	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyolysis	Likely pathogenic; Pathogenic	rs74315294	RCV000662284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs74315295	RCV001270097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs74315294	RCV005887402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs74315294	RCV005887403	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES, METABOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney damage	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; 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
Acquired Metabolic Diseases, Nervous System	Nervous System Acquired Metabolic Diseases	CTD_human_DG	21816645		★☆☆☆☆ Found in Text Mining only
Acute encephalopathy	Encephalopathy	BEFREE	20934285, 22854105, 23450341, 26874509, 31351739		★☆☆☆☆ Found in Text Mining only
Acute encephalopathy with biphasic seizures and late reduced diffusion	Encephalopathy With Biphasic Seizures And Diffusion	BEFREE	25156649		★☆☆☆☆ Found in Text Mining only
Acute necrotizing encephalopathy	Necrotizing Encephalopathy	BEFREE	30470651		★☆☆☆☆ Found in Text Mining only
Acute necrotizing encephalopathy of childhood	Necrotizing Encephalopathy	ORPHANET_DG	20934285		★☆☆☆☆ Found in Text Mining only
Acute necrotizing encephalopathy of childhood	Necrotizing Encephalopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism Inborn Errors	Amino acid metabolism disorder	Pubtator	28779239	Associate	★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	28526869		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30639412		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29886733, 31744213		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30639412		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30452083		★☆☆☆☆ Found in Text Mining only
Basal ganglia cysts	Basal ganglia cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic	Brain disease	Pubtator	25781464	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases, Metabolic	Brain Diseases	CTD_human_DG	21816645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	18253084, 21294903, 26799588, 31803610		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18253084		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	1528846, 29445083		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16307905, 31199069		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 1A deficiency	Carnitine Palmitoyl Transferase Deficiency	BEFREE	30881520		★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	CLINVAR_DG	10090476, 10398215, 10862092, 12410208, 12560872, 12673791, 12707442, 14605500, 15622536, 15642848, 15776096, 16615913, 16781677, 16996287, 17372854, 17936304, 18306170, 18363739, 18550408, 20810031, 21709843, 21913903, 22652984, 22899091, 23184072, 23700290, 24398345, 24602495, 25827434, 2647738, 26537576, 2762996, 27629963, 27974123, 28516040, 28801073, 7711730, 8358442, 8651281, 8682496, 8786066, 9309694, 9562964, 9600456, 9758712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	10398218, 10868782, 14634971, 16919490, 16996287, 18363739, 18471680, 19335026, 20370797, 24088670, 25361188, 28516040, 28739175, 29552494, 30007356, 31201655, 31372341, 9600456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	CLINGEN_DG	12410208, 12673791, 1528846, 16704352, 16996287, 18550408, 28916721, 8358442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyltransferase deficiency	Pubtator	27034144, 30149802, 35572607	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyltransferase deficiency	Pubtator	32129275, 35572607	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnitine palmitoyl transferase II deficiency, myopathic form	Carnitine Palmitoyl Transferase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyl transferase II deficiency, neonatal form	Carnitine Palmitoyl Transferase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine palmitoyl transferase II deficiency, severe infantile form	Carnitine Palmitoyl Transferase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	25781464, 27629963, 30262761, 31770251, 34063237, 38168614	Associate	★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	31085678	Stimulate	★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	31770251	Inhibit	★☆☆☆☆ Found in Text Mining only
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	CLINVAR_DG	10090476, 10398215, 10734268, 10862092, 11855939, 12410208, 12673791, 14605500, 14615409, 15363638, 15622536, 15642848, 16615913, 16996287, 17936304, 18363739, 18550408, 18577113, 18645163, 18925671, 20543534, 20661589, 20810031, 21227726, 21709843, 21913903, 22841441, 22854105, 22975760, 23184072, 23322164, 23700290, 24398345, 25827434, 25919294, 7711730, 8358442, 8651281, 8682496, 9562964, 9600456, 9758712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	UNIPROT_DG	1528846, 8651281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	GENOMICS_ENGLAND_DG	16602102, 24816252, 27604308, 8651281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	BEFREE	18550408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	Carnitine Palmitoyl Transferase Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	Carnitine palmitoyl transferase deficiency	UNIPROT_DG	10090476, 11477613, 14605500, 14615409, 1528846, 15489334, 15622536, 7711730, 8358442, 8651281, 9600456, 9758712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	Carnitine palmitoyl transferase deficiency	CLINVAR_DG	10862092, 11855939, 12673791, 16615913, 16996287, 18363739, 18550408, 21227726, 22854105, 23700290, 25919294, 9600456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	Carnitine palmitoyl transferase deficiency	GENOMICS_ENGLAND_DG	10873395, 16602102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	Carnitine palmitoyl transferase deficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	Carnitine palmitoyl transferase deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	Carnitine Palmitoyl Transferase Deficiency	CLINVAR_DG	10862092, 11855939, 12673791, 16615913, 16996287, 18363739, 18550408, 21227726, 22854105, 23700290, 25919294, 9600456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	Carnitine Palmitoyl Transferase Deficiency	GENOMICS_ENGLAND_DG	16602102, 24816252, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	Carnitine Palmitoyl Transferase Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	Carnitine Palmitoyl Transferase Deficiency	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Metabolic Disorders	Central Nervous System Metabolic Disorders	CTD_human_DG	21816645		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25049200		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36177002, 38179743	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18253084, 28977850		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31893510, 32953885, 34740325, 37926998, 38186579	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36195841	Inhibit	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22960640		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31423551		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31423551		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28653367, 28956034		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29469229, 31585912, 31838081		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29959379		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	14634971		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	25361188, 31201655		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	15811315, 18306170, 20934285, 21697855, 21816645		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	19694967, 29959379, 30322784		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21075404		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31337855		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	20356791		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36838582	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	20356791		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type V	Glycogen Storage Disease	BEFREE	19019309, 20356791		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	BEFREE	23450341		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26913919	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22960640		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37950149	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic calcification	Hepatic calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19694967		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	27762456, 31423551		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	1528846, 15363638		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30511343		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	19694967		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27034144	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	15754283, 24780397, 28085674		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25049200		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	15647998		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	10862092, 17936304, 27034144		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29437870, 29872321, 30604893, 31337855		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	39840890	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21294903, 26799588, 31803610		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31258820		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25501281, 25561013, 28915573		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29596410, 29872321, 30070697, 31803610		★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21294903, 25781464		★☆☆☆☆ Found in Text Mining only
Metabolic Disorder, Central Nervous System, Acquired	Metabolic Disorder, Central Nervous System	CTD_human_DG	21816645		★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	30007356, 31541997		★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	GENOMICS_ENGLAND_DG	8651281		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19694967, 22809552		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	20356791		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21378393	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	30401918, 30617651		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12802501		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28647730		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10398218, 10873395, 18550408, 29478820		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	CTD_human_DG	18380285		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopathy	Myopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18253084, 20691246, 29872321, 31040181		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28777914, 29743925, 31480575		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10334320, 17089095, 19694967, 25588812, 26035386, 29366805, 29891721		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33185172, 36371454	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29339197		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25501281, 25561013, 28915573		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30511343		★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	33166306	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	19904456, 31085678, 31770251, 32978841	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sinus Tachycardia	Sinus Tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19694967, 23211317, 29018509, 29959379		★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	28392417		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	20370797		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27189278	Associate	★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	21378393	Associate	★☆☆☆☆ Found in Text Mining only