Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	215
Gene name	ATP binding cassette subfamily D member 1
Gene symbol	ABCD1
Synonyms (NCBI Gene)	ABC42ALDALDPAMN
Chromosome	X
Chromosome location	Xq28
Summary	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4010613	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs11146842	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs128624214	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624215	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624219	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624220	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624221	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs128624222	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs128624223	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624224	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624225	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140263823	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs141110958	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs150346282	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs193922093	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922094	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201568579	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201774661	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs202125585	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906494	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906495	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs398123100	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123102	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123103	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123104	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123105	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123106	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123108	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs727503786	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs781862879	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782041940	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs782266592	G>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs797044625	AC>-,ACAC	Likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797044626	A>G	Pathogenic	Splice acceptor variant
rs797044726	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044781	G>A	Pathogenic	Splice acceptor variant
rs886044777	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064793877	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1170974058	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1557054153	G>A	Likely-pathogenic	Splice acceptor variant
rs1557054210	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557054318	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557054745	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054776	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054875	T>G	Pathogenic	Splice donor variant
rs1557055253	GTGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055260	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055311	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1557055316	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055337	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055340	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055392	->GC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055405	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055406	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569540883	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541000	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569541006	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541007	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541009	CCCTCAGGTGACGGAGCTGGCT>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant
rs1569541088	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541093	TACATCCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541096	G>A	Pathogenic	Splice donor variant
rs1569541109	A>G	Pathogenic	Splice acceptor variant
rs1569541115	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541198	G>A	Pathogenic	Splice donor variant
rs1569541203	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541207	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603233089	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603233120	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234451	->GGCAGCCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234466	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234501	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603234574	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234759	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235263	G>A	Likely-pathogenic	Splice acceptor variant
rs1603235267	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603235321	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235389	G>A	Pathogenic	Splice acceptor variant
rs1603235406	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235421	CTGGACGTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1603235901	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235941	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236013	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236020	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029416	hsa-miR-26b-5p	Microarray	19088304
MIRT050424	hsa-miR-23a-3p	CLASH	23622248
MIRT039787	hsa-miR-615-3p	CLASH	23622248
MIRT053394	hsa-miR-96-5p	Microarray	23807165
MIRT758715	hsa-miR-1202	CLIP-seq
MIRT758716	hsa-miR-125a-3p	CLIP-seq
MIRT758717	hsa-miR-1266	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT758719	hsa-miR-1275	CLIP-seq
MIRT758720	hsa-miR-23a	CLIP-seq
MIRT758721	hsa-miR-23b	CLIP-seq
MIRT758722	hsa-miR-23c	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT758724	hsa-miR-3151	CLIP-seq
MIRT758725	hsa-miR-3175	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT758728	hsa-miR-3188	CLIP-seq
MIRT758729	hsa-miR-3197	CLIP-seq
MIRT758730	hsa-miR-3605-5p	CLIP-seq
MIRT758731	hsa-miR-3612	CLIP-seq
MIRT758732	hsa-miR-3619-3p	CLIP-seq
MIRT758733	hsa-miR-3665	CLIP-seq
MIRT758734	hsa-miR-3972	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758736	hsa-miR-4265	CLIP-seq
MIRT758737	hsa-miR-4283	CLIP-seq
MIRT758738	hsa-miR-4296	CLIP-seq
MIRT758739	hsa-miR-4316	CLIP-seq
MIRT758740	hsa-miR-4322	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT758742	hsa-miR-4443	CLIP-seq
MIRT758743	hsa-miR-4447	CLIP-seq
MIRT758744	hsa-miR-4472	CLIP-seq
MIRT758745	hsa-miR-4518	CLIP-seq
MIRT758746	hsa-miR-4525	CLIP-seq
MIRT758747	hsa-miR-4665-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758750	hsa-miR-4723-5p	CLIP-seq
MIRT758751	hsa-miR-4776-5p	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758753	hsa-miR-491-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758756	hsa-miR-581	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT758759	hsa-miR-591	CLIP-seq
MIRT758760	hsa-miR-625	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq
MIRT758762	hsa-miR-650	CLIP-seq
MIRT758763	hsa-miR-657	CLIP-seq
MIRT1923689	hsa-miR-1208	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT1923690	hsa-miR-1292	CLIP-seq
MIRT1923691	hsa-miR-1915	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT1923692	hsa-miR-3126-5p	CLIP-seq
MIRT1923693	hsa-miR-3160-3p	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT1923694	hsa-miR-3190	CLIP-seq
MIRT1923695	hsa-miR-34a	CLIP-seq
MIRT1923696	hsa-miR-34c-5p	CLIP-seq
MIRT1923697	hsa-miR-361-3p	CLIP-seq
MIRT1923698	hsa-miR-3689a-3p	CLIP-seq
MIRT1923699	hsa-miR-3689c	CLIP-seq
MIRT1923700	hsa-miR-3929	CLIP-seq
MIRT1923701	hsa-miR-4270	CLIP-seq
MIRT1923702	hsa-miR-4318	CLIP-seq
MIRT1923703	hsa-miR-4419b	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT1923704	hsa-miR-4441	CLIP-seq
MIRT1923705	hsa-miR-4471	CLIP-seq
MIRT1923706	hsa-miR-4478	CLIP-seq
MIRT1923707	hsa-miR-4481	CLIP-seq
MIRT1923708	hsa-miR-4487	CLIP-seq
MIRT1923709	hsa-miR-449a	CLIP-seq
MIRT1923710	hsa-miR-449b	CLIP-seq
MIRT1923711	hsa-miR-4505	CLIP-seq
MIRT1923712	hsa-miR-4632	CLIP-seq
MIRT1923713	hsa-miR-4646-5p	CLIP-seq
MIRT1923714	hsa-miR-4649-5p	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT1923716	hsa-miR-4704-3p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT1923717	hsa-miR-4728-5p	CLIP-seq
MIRT1923718	hsa-miR-4745-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT1923719	hsa-miR-558	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT1923720	hsa-miR-626	CLIP-seq
MIRT2165251	hsa-miR-182	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT2383757	hsa-miR-3199	CLIP-seq
MIRT2383758	hsa-miR-4515	CLIP-seq
MIRT2383759	hsa-miR-4651	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT2383760	hsa-miR-608	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	29397936
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	EXP	11500517
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IBA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IGI	18757502
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	10551832, 10777694, 11883941, 17609205, 20531392
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IDA	11248239, 16946495
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	17761426
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	16946495
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005777	Component	Peroxisome	IDA	9425230, 10777694, 14533738, 17542813, 17761426, 18757502, 20810565
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	10640429, 16946495, 17609205, 29397936
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	NAS	8441467
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16946495
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9425230, 17542813
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IGI	18757502, 21145416
GO:0006635	Process	Fatty acid beta-oxidation	IMP	23671276
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	NAS	8441467
GO:0015605	Function	Organophosphate ester transmembrane transporter activity	IEA
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IDA	15682271
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IEA
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IGI	18757502
GO:0015748	Process	Organophosphate ester transport	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IGI	18757502
GO:0015916	Process	Fatty-acyl-CoA transport	IEA
GO:0015919	Process	Peroxisomal membrane transport	NAS	8441467
GO:0015931	Process	Nucleobase-containing compound transport	IEA
GO:0015932	Function	Nucleobase-containing compound transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	11248239, 16946495, 33500543
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0030497	Process	Fatty acid elongation	IEA
GO:0030497	Process	Fatty acid elongation	ISS
GO:0031966	Component	Mitochondrial membrane	IDA	16946495
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IEA
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IMP	23123468
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	ISS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0036113	Process	Very long-chain fatty-acyl-CoA catabolic process	IMP	23671276
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	29397936
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	NAS	8441467
GO:0042758	Process	Long-chain fatty acid catabolic process	IGI	18757502
GO:0042758	Process	Long-chain fatty acid catabolic process	IMP	23671276
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IDA	9425230
GO:0042760	Process	Very long-chain fatty acid catabolic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	18757502, 21145416
GO:0042802	Function	Identical protein binding	IPI	10551832
GO:0042803	Function	Protein homodimerization activity	IDA	17609205, 18757502, 21145416
GO:0042886	Process	Amide transport	IEA
GO:0042887	Function	Amide transmembrane transporter activity	IEA
GO:0043217	Process	Myelin maintenance	IEA
GO:0043217	Process	Myelin maintenance	ISS
GO:0043531	Function	ADP binding	IDA	16946495
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IDA	29397936, 33500543
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17761426
GO:0051900	Process	Regulation of mitochondrial depolarization	IEA
GO:0051900	Process	Regulation of mitochondrial depolarization	ISS
GO:0052817	Function	Very long-chain fatty acyl-CoA hydrolase activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	IEA
GO:0055092	Process	Sterol homeostasis	ISS
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900407	Process	Regulation of cellular response to oxidative stress	IEA
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA
GO:1901682	Function	Sulfur compound transmembrane transporter activity	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	IEA
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

MIM	HGNC	e!Ensembl
300371	61	ENSG00000101986

P33897

Protein name

ATP-binding cassette sub-family D member 1 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy protein) (ALDP)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502,

PDB

7RR9 , 7RRA , 7SHM , 7SHN , 7VR1 , 7VWC , 7VX8 , 7VZB , 7X07 , 7X0T , 7X0Z , 7X1W , 7XEC , 7YRQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06472	ABC_membrane_2	78 → 352	ABC transporter transmembrane region 2	Family
PF00005	ABC_tran	490 → 633	ABC transporter	Domain

Sequence

MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLAR
CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTY
YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGT
AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSES
DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH
EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIP
IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMF
YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHR
PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQIL
GEAVAPAHVPAPSPQGPGGLQGAST

Sequence length

745

Interactions

View interactions

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)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCD1-related disorder	Pathogenic; Likely pathogenic	rs1057517954, rs2091705296, rs782603062, rs1557052294, rs713993050, rs201568579, rs150346282, rs128624221, rs387906494, rs886044777, rs2522264924, rs2522296936, rs2522276205, rs868911300, rs2522267128 View all (9 more)	RCV003402235 RCV004753460 RCV003892948 RCV004731257 RCV005867934 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2148395370	RCV001814562	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenoleukodystrophy	Pathogenic; Likely pathogenic	rs2091708688, rs2091749844, rs1603231784, rs2148389975, rs2148391889, rs2148396070, rs1603231653, rs2148389462, rs2148389592, rs2148389670, rs1204814114, rs2148389834, rs2148391974, rs782007706, rs2148397523 View all (310 more)	RCV001342918 RCV001340427 RCV001368455 RCV001379121 RCV001379281 View all (359 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic; Pathogenic	rs1557054873	RCV004541648	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalitis	Likely pathogenic	rs1557055311	RCV000626569	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic vomiting	Likely pathogenic	rs1557055311	RCV000626569	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
History of neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs193922098	RCV000721083	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myocarditis	Likely pathogenic	rs1557055311	RCV000626569	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2091712381, rs201114595	RCV005911326 RCV005908876	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary adrenocortical insufficiency	Pathogenic	rs128624225, rs2148399029	RCV000012062 RCV000012063	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent fever	Likely pathogenic	rs1557055311	RCV000626569	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic gait	Likely pathogenic; Pathogenic	rs398123108	RCV000626568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs398123108	RCV000626568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2522288573, rs398123103	RCV005926833 RCV005886133	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked cerebral adrenoleukodystrophy	Likely pathogenic	rs2148388674	RCV002227846	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked spondyloepimetaphyseal dysplasia	Pathogenic; Likely pathogenic	rs128624218, rs128624224	RCV001358196 RCV001358358	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ADRENOMYELONEUROPATHY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorder 2B	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Addison Disease	Addison`s Disease	BEFREE	15489218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	16949688, 17828604, 20228476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	10068511, 10196381, 10329405, 10480364, 10482273, 10551832, 10980309, 11063720, 11112418, 11422379, 11438993, 11748843, 11810273, 11968085, 11992258 View all (163 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	10068511, 10068516, 11992258, 12065405, 17498713, 17602313, 17609205, 19787628, 20166112, 20228476, 20661612, 21264817, 21966424, 22045812, 22253809 View all (97 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	CLINVAR_DG	10190819, 10227685, 10480364, 10551832, 10737980, 10815658, 10980309, 10980539, 11102997, 11220738, 11310629, 11336405, 11438993, 11748843, 11798073 View all (95 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	UNIPROT_DG	10369742, 10480364, 10551832, 10737980, 10980539, 11248239, 11438993, 11810273, 15643618, 21700483, 21889498, 23651979, 26686776, 7581394, 7717396 View all (7 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	LHGDN	10737980, 11438993, 11992258, 12579499, 14556192, 17285533, 17662307, 18306728		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	GENOMICS_ENGLAND_DG	11810273, 17372139, 23664929, 24357685, 25655951, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	CLINGEN_DG	15811009, 21700483, 7668254, 7878038, 8651290		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy	Adrenoleukodystrophy	CTD_human_DG	16319717, 17602313, 22057157		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	BEFREE	6517102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	10480364, 10980309, 15489218, 15800013, 16401743, 17509471, 19001168, 20195870, 20626745, 21721033, 22095690, 22483867, 23604518, 23794606, 24316281 View all (15 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenomyeloneuropathy	Adrenomyeloneuropathy	CLINGEN_DG	15811009, 21700483, 7668254, 7878038, 8651290		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenomyeloneuropathy	Adrenomyeloneuropathy	CTD_human_DG	16319717, 17602313, 22057157		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenomyeloneuropathy	Adrenomyeloneuropathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29966135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	7695791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG	9452087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	10467913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	15001567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10807785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	10807785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	40142297	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	22687851, 24719134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CADDS	Contiguous ABCD1 DXS1357E Deletion Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19787628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19787628	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38297313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	12065405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	38245786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31004758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	31257461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	22994209, 24597975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24155878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	24480483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Contiguous Abcd1-Dxs1375e Deletion Syndrome	Contiguous ABCD1 DXS1357E Deletion Syndrome	ORPHANET_DG	11992258, 22994209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contiguous Abcd1-Dxs1375e Deletion Syndrome	Contiguous ABCD1 DXS1357E Deletion Syndrome	BEFREE	22994209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19787628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	17662307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23962690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	BEFREE	17662307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	12761339, 15809314, 18822105, 19892975, 20173212, 9607414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	22914231, 29860501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35634436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	23185624		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalitis	Encephalitis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
End Stage Liver Disease	End Stage Liver Disease	BEFREE	30561840, 30596105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	24685009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23154058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28419832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28744836, 31004758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22994209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29704464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26607867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29303786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	9931115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoadrenocorticism, familial	Hypoadrenocorticism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30829395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	BEFREE	30586746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30586746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	19787628	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	36983033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	20195870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18638391, 24155878, 31004758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24155878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28432037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	25151985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	25151985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23553627, 25151985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	23553627, 29704464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	25151985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10807785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10807785		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31062210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20173212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	33472124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34069712	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31557422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	28432037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28976817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11438993, 19406751, 22218650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17609205, 20228476, 26607867, 7597071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10551832, 11063720, 11422379, 16087056, 16213491, 17542813, 21399389, 22112817, 23566833, 26454440, 26607867, 27425035, 28737695, 29059709, 30069915, 31133696, 8651290 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18638391, 24155878, 28170108, 28336739, 30362098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	7695791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	24316281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	24316281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	31257461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	11992258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23962690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29180269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19787628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	9452087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22472424		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	17372139, 23664929		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	26049658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Spastic tetraparesis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	18344354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	29709699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35634436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28419832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	LHGDN	15001567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG	9452087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	37981684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked cerebral adrenoleukodystrophy	Cerebral Adrenoleukodystrophy, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Zellweger Syndrome	Zellweger Syndrome	BEFREE	22994209, 6517102		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCD1 (ATP binding cassette subfamily D member 1)