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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5825
Gene name	ATP binding cassette subfamily D member 3
Gene symbol	ABCD3
Synonyms (NCBI Gene)	ABC43CBAS5PMP70PXMP1ZWS2
Chromosome	1
Chromosome location	1p21.3
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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miRTarBase ID	miRNA	Experiments	Reference
MIRT030935	hsa-miR-21-5p	Microarray	18591254
MIRT758783	hsa-miR-323b-3p	CLIP-seq
MIRT758784	hsa-miR-3926	CLIP-seq
MIRT758785	hsa-miR-4438	CLIP-seq
MIRT758786	hsa-miR-5095	CLIP-seq
MIRT758787	hsa-miR-548s	CLIP-seq
MIRT758788	hsa-miR-1272	CLIP-seq
MIRT758789	hsa-miR-1297	CLIP-seq
MIRT758790	hsa-miR-1305	CLIP-seq
MIRT758791	hsa-miR-219-5p	CLIP-seq
MIRT758792	hsa-miR-26a	CLIP-seq
MIRT758793	hsa-miR-26b	CLIP-seq
MIRT758794	hsa-miR-296-3p	CLIP-seq
MIRT758795	hsa-miR-3121-3p	CLIP-seq
MIRT758796	hsa-miR-3130-5p	CLIP-seq
MIRT758797	hsa-miR-365	CLIP-seq
MIRT758798	hsa-miR-3682-5p	CLIP-seq
MIRT758799	hsa-miR-4307	CLIP-seq
MIRT758800	hsa-miR-4328	CLIP-seq
MIRT758801	hsa-miR-4445	CLIP-seq
MIRT758802	hsa-miR-4465	CLIP-seq
MIRT758803	hsa-miR-4482	CLIP-seq
MIRT758804	hsa-miR-4676-5p	CLIP-seq
MIRT758805	hsa-miR-4698	CLIP-seq
MIRT758806	hsa-miR-4749-3p	CLIP-seq
MIRT758807	hsa-miR-4762-3p	CLIP-seq
MIRT758808	hsa-miR-4782-3p	CLIP-seq
MIRT758809	hsa-miR-4798-5p	CLIP-seq
MIRT758810	hsa-miR-498	CLIP-seq
MIRT758811	hsa-miR-499-3p	CLIP-seq
MIRT758812	hsa-miR-499a-3p	CLIP-seq
MIRT758813	hsa-miR-508-3p	CLIP-seq
MIRT758814	hsa-miR-575	CLIP-seq
MIRT1923721	hsa-miR-135a	CLIP-seq
MIRT1923722	hsa-miR-135b	CLIP-seq
MIRT1923723	hsa-miR-1915	CLIP-seq
MIRT758799	hsa-miR-4307	CLIP-seq
MIRT1923724	hsa-miR-4726-3p	CLIP-seq
MIRT2467143	hsa-miR-105	CLIP-seq
MIRT2467144	hsa-miR-1252	CLIP-seq
MIRT2467145	hsa-miR-1273d	CLIP-seq
MIRT2467146	hsa-miR-1289	CLIP-seq
MIRT2467147	hsa-miR-1343	CLIP-seq
MIRT1923721	hsa-miR-135a	CLIP-seq
MIRT1923722	hsa-miR-135b	CLIP-seq
MIRT2467148	hsa-miR-140-3p	CLIP-seq
MIRT1923723	hsa-miR-1915	CLIP-seq
MIRT2467149	hsa-miR-2682	CLIP-seq
MIRT2467150	hsa-miR-27a	CLIP-seq
MIRT2467151	hsa-miR-27b	CLIP-seq
MIRT758794	hsa-miR-296-3p	CLIP-seq
MIRT2467152	hsa-miR-299-5p	CLIP-seq
MIRT2467153	hsa-miR-3074-5p	CLIP-seq
MIRT2467154	hsa-miR-3119	CLIP-seq
MIRT758795	hsa-miR-3121-3p	CLIP-seq
MIRT758796	hsa-miR-3130-5p	CLIP-seq
MIRT2467155	hsa-miR-3163	CLIP-seq
MIRT2467156	hsa-miR-3198	CLIP-seq
MIRT2467157	hsa-miR-323-3p	CLIP-seq
MIRT2467158	hsa-miR-337-3p	CLIP-seq
MIRT2467159	hsa-miR-3622b-5p	CLIP-seq
MIRT2467160	hsa-miR-3646	CLIP-seq
MIRT2467161	hsa-miR-3662	CLIP-seq
MIRT2467162	hsa-miR-3667-5p	CLIP-seq
MIRT2467163	hsa-miR-3689a-5p	CLIP-seq
MIRT2467164	hsa-miR-3689b	CLIP-seq
MIRT2467165	hsa-miR-3689e	CLIP-seq
MIRT2467166	hsa-miR-3689f	CLIP-seq
MIRT2467167	hsa-miR-3690	CLIP-seq
MIRT2467168	hsa-miR-369-3p	CLIP-seq
MIRT2467169	hsa-miR-374a	CLIP-seq
MIRT2467170	hsa-miR-374b	CLIP-seq
MIRT2467171	hsa-miR-374c	CLIP-seq
MIRT2467172	hsa-miR-3908	CLIP-seq
MIRT2467173	hsa-miR-3913-3p	CLIP-seq
MIRT2467174	hsa-miR-3942-5p	CLIP-seq
MIRT2467175	hsa-miR-410	CLIP-seq
MIRT2467176	hsa-miR-412	CLIP-seq
MIRT2467177	hsa-miR-4252	CLIP-seq
MIRT2467178	hsa-miR-4254	CLIP-seq
MIRT2467179	hsa-miR-4261	CLIP-seq
MIRT2467180	hsa-miR-4272	CLIP-seq
MIRT2467181	hsa-miR-4294	CLIP-seq
MIRT2467182	hsa-miR-4309	CLIP-seq
MIRT758800	hsa-miR-4328	CLIP-seq
MIRT2467183	hsa-miR-4420	CLIP-seq
MIRT2467184	hsa-miR-4423-3p	CLIP-seq
MIRT2467185	hsa-miR-4436a	CLIP-seq
MIRT2467186	hsa-miR-4477a	CLIP-seq
MIRT2467187	hsa-miR-4477b	CLIP-seq
MIRT758803	hsa-miR-4482	CLIP-seq
MIRT2467188	hsa-miR-449c	CLIP-seq
MIRT2467189	hsa-miR-451b	CLIP-seq
MIRT2467190	hsa-miR-4662a-3p	CLIP-seq
MIRT2467191	hsa-miR-4667-3p	CLIP-seq
MIRT2467192	hsa-miR-4680-5p	CLIP-seq
MIRT2467193	hsa-miR-4696	CLIP-seq
MIRT758805	hsa-miR-4698	CLIP-seq
MIRT2467194	hsa-miR-4699-5p	CLIP-seq
MIRT2467195	hsa-miR-4700-3p	CLIP-seq
MIRT2467196	hsa-miR-4703-5p	CLIP-seq
MIRT2467197	hsa-miR-4719	CLIP-seq
MIRT2467198	hsa-miR-4720-5p	CLIP-seq
MIRT1923724	hsa-miR-4726-3p	CLIP-seq
MIRT2467199	hsa-miR-4729	CLIP-seq
MIRT2467200	hsa-miR-4731-3p	CLIP-seq
MIRT2467201	hsa-miR-4733-5p	CLIP-seq
MIRT2467202	hsa-miR-4735-5p	CLIP-seq
MIRT2467203	hsa-miR-4736	CLIP-seq
MIRT2467204	hsa-miR-4738-3p	CLIP-seq
MIRT2467205	hsa-miR-4747-5p	CLIP-seq
MIRT2467206	hsa-miR-4753-3p	CLIP-seq
MIRT2467207	hsa-miR-4756-3p	CLIP-seq
MIRT2467208	hsa-miR-4760-3p	CLIP-seq
MIRT2467209	hsa-miR-4766-3p	CLIP-seq
MIRT2467210	hsa-miR-4773	CLIP-seq
MIRT2467211	hsa-miR-4775	CLIP-seq
MIRT2467212	hsa-miR-4786-3p	CLIP-seq
MIRT2467213	hsa-miR-4789-5p	CLIP-seq
MIRT2467214	hsa-miR-4790-3p	CLIP-seq
MIRT2467215	hsa-miR-4795-3p	CLIP-seq
MIRT2467216	hsa-miR-4799-3p	CLIP-seq
MIRT2467217	hsa-miR-4801	CLIP-seq
MIRT2467218	hsa-miR-4802-3p	CLIP-seq
MIRT2467219	hsa-miR-4803	CLIP-seq
MIRT2467220	hsa-miR-489	CLIP-seq
MIRT2467221	hsa-miR-491-3p	CLIP-seq
MIRT2467222	hsa-miR-494	CLIP-seq
MIRT2467223	hsa-miR-513a-5p	CLIP-seq
MIRT2467224	hsa-miR-515-3p	CLIP-seq
MIRT2467225	hsa-miR-519e	CLIP-seq
MIRT2467226	hsa-miR-548aa	CLIP-seq
MIRT2467227	hsa-miR-548c-3p	CLIP-seq
MIRT2467228	hsa-miR-548n	CLIP-seq
MIRT2467229	hsa-miR-548t	CLIP-seq
MIRT2467230	hsa-miR-568	CLIP-seq
MIRT2467231	hsa-miR-577	CLIP-seq
MIRT2467232	hsa-miR-590-3p	CLIP-seq
MIRT2467233	hsa-miR-599	CLIP-seq
MIRT2467234	hsa-miR-617	CLIP-seq
MIRT2467235	hsa-miR-655	CLIP-seq
MIRT2467236	hsa-miR-656	CLIP-seq
MIRT2467237	hsa-miR-657	CLIP-seq
MIRT2467238	hsa-miR-889	CLIP-seq
MIRT2467239	hsa-miR-940	CLIP-seq
MIRT2467143	hsa-miR-105	CLIP-seq
MIRT2467144	hsa-miR-1252	CLIP-seq
MIRT2467145	hsa-miR-1273d	CLIP-seq
MIRT2467146	hsa-miR-1289	CLIP-seq
MIRT2467147	hsa-miR-1343	CLIP-seq
MIRT1923721	hsa-miR-135a	CLIP-seq
MIRT1923722	hsa-miR-135b	CLIP-seq
MIRT2467148	hsa-miR-140-3p	CLIP-seq
MIRT2467149	hsa-miR-2682	CLIP-seq
MIRT2467150	hsa-miR-27a	CLIP-seq
MIRT2467151	hsa-miR-27b	CLIP-seq
MIRT758794	hsa-miR-296-3p	CLIP-seq
MIRT2467152	hsa-miR-299-5p	CLIP-seq
MIRT2467153	hsa-miR-3074-5p	CLIP-seq
MIRT2467154	hsa-miR-3119	CLIP-seq
MIRT758795	hsa-miR-3121-3p	CLIP-seq
MIRT758796	hsa-miR-3130-5p	CLIP-seq
MIRT2467155	hsa-miR-3163	CLIP-seq
MIRT2467156	hsa-miR-3198	CLIP-seq
MIRT2467157	hsa-miR-323-3p	CLIP-seq
MIRT2467159	hsa-miR-3622b-5p	CLIP-seq
MIRT2467160	hsa-miR-3646	CLIP-seq
MIRT2467161	hsa-miR-3662	CLIP-seq
MIRT2467162	hsa-miR-3667-5p	CLIP-seq
MIRT2467163	hsa-miR-3689a-5p	CLIP-seq
MIRT2467164	hsa-miR-3689b	CLIP-seq
MIRT2467165	hsa-miR-3689e	CLIP-seq
MIRT2467166	hsa-miR-3689f	CLIP-seq
MIRT2467167	hsa-miR-3690	CLIP-seq
MIRT2467168	hsa-miR-369-3p	CLIP-seq
MIRT2467169	hsa-miR-374a	CLIP-seq
MIRT2467170	hsa-miR-374b	CLIP-seq
MIRT2467171	hsa-miR-374c	CLIP-seq
MIRT2467172	hsa-miR-3908	CLIP-seq
MIRT2467173	hsa-miR-3913-3p	CLIP-seq
MIRT2467174	hsa-miR-3942-5p	CLIP-seq
MIRT2467175	hsa-miR-410	CLIP-seq
MIRT2467176	hsa-miR-412	CLIP-seq
MIRT2467177	hsa-miR-4252	CLIP-seq
MIRT2467178	hsa-miR-4254	CLIP-seq
MIRT2467179	hsa-miR-4261	CLIP-seq
MIRT2467180	hsa-miR-4272	CLIP-seq
MIRT2467181	hsa-miR-4294	CLIP-seq
MIRT2467182	hsa-miR-4309	CLIP-seq
MIRT758800	hsa-miR-4328	CLIP-seq
MIRT2467183	hsa-miR-4420	CLIP-seq
MIRT2467184	hsa-miR-4423-3p	CLIP-seq
MIRT2467185	hsa-miR-4436a	CLIP-seq
MIRT2467186	hsa-miR-4477a	CLIP-seq
MIRT2467187	hsa-miR-4477b	CLIP-seq
MIRT758803	hsa-miR-4482	CLIP-seq
MIRT2467188	hsa-miR-449c	CLIP-seq
MIRT2467189	hsa-miR-451b	CLIP-seq
MIRT2467190	hsa-miR-4662a-3p	CLIP-seq
MIRT2467191	hsa-miR-4667-3p	CLIP-seq
MIRT2467192	hsa-miR-4680-5p	CLIP-seq
MIRT2467193	hsa-miR-4696	CLIP-seq
MIRT758805	hsa-miR-4698	CLIP-seq
MIRT2467194	hsa-miR-4699-5p	CLIP-seq
MIRT2467195	hsa-miR-4700-3p	CLIP-seq
MIRT2467196	hsa-miR-4703-5p	CLIP-seq
MIRT2467197	hsa-miR-4719	CLIP-seq
MIRT2467198	hsa-miR-4720-5p	CLIP-seq
MIRT2467199	hsa-miR-4729	CLIP-seq
MIRT2467200	hsa-miR-4731-3p	CLIP-seq
MIRT2467201	hsa-miR-4733-5p	CLIP-seq
MIRT2467202	hsa-miR-4735-5p	CLIP-seq
MIRT2467203	hsa-miR-4736	CLIP-seq
MIRT2467204	hsa-miR-4738-3p	CLIP-seq
MIRT2467205	hsa-miR-4747-5p	CLIP-seq
MIRT2467206	hsa-miR-4753-3p	CLIP-seq
MIRT2467207	hsa-miR-4756-3p	CLIP-seq
MIRT2467208	hsa-miR-4760-3p	CLIP-seq
MIRT2467209	hsa-miR-4766-3p	CLIP-seq
MIRT2467210	hsa-miR-4773	CLIP-seq
MIRT2467211	hsa-miR-4775	CLIP-seq
MIRT2467212	hsa-miR-4786-3p	CLIP-seq
MIRT2467213	hsa-miR-4789-5p	CLIP-seq
MIRT2467214	hsa-miR-4790-3p	CLIP-seq
MIRT2467215	hsa-miR-4795-3p	CLIP-seq
MIRT2467216	hsa-miR-4799-3p	CLIP-seq
MIRT2467217	hsa-miR-4801	CLIP-seq
MIRT2467218	hsa-miR-4802-3p	CLIP-seq
MIRT2467219	hsa-miR-4803	CLIP-seq
MIRT2467220	hsa-miR-489	CLIP-seq
MIRT2467221	hsa-miR-491-3p	CLIP-seq
MIRT2467222	hsa-miR-494	CLIP-seq
MIRT2467223	hsa-miR-513a-5p	CLIP-seq
MIRT2467224	hsa-miR-515-3p	CLIP-seq
MIRT2467225	hsa-miR-519e	CLIP-seq
MIRT2467226	hsa-miR-548aa	CLIP-seq
MIRT2467227	hsa-miR-548c-3p	CLIP-seq
MIRT2467228	hsa-miR-548n	CLIP-seq
MIRT2467229	hsa-miR-548t	CLIP-seq
MIRT2467230	hsa-miR-568	CLIP-seq
MIRT2467231	hsa-miR-577	CLIP-seq
MIRT2467232	hsa-miR-590-3p	CLIP-seq
MIRT2467233	hsa-miR-599	CLIP-seq
MIRT2467234	hsa-miR-617	CLIP-seq
MIRT2467235	hsa-miR-655	CLIP-seq
MIRT2467236	hsa-miR-656	CLIP-seq
MIRT2467237	hsa-miR-657	CLIP-seq
MIRT2467238	hsa-miR-889	CLIP-seq
MIRT2467239	hsa-miR-940	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	29397936
GO:0000166	Function	Nucleotide binding	IEA
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	IMP	24333844
GO:0005515	Function	Protein binding	IPI	10551832, 10704444, 10777694, 11453642, 11590176, 11883941, 14709540, 16344115, 17609205, 21102411, 32814053
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IDA	11248239
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	9425230, 9922452, 10704444, 11453642, 16344115, 17542813, 19479899, 20007743, 24333844
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	17609205
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	IDA	9765053
GO:0005829	Component	Cytosol	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IMP	25168382
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	24333844
GO:0006635	Process	Fatty acid beta-oxidation	IGI	9425230
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	ISS
GO:0006869	Process	Lipid transport	IEA
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	IMP	9765053
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0015721	Process	Bile acid and bile salt transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	ISS
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	IMP	24333844
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, 29397936
GO:0016887	Function	ATP hydrolysis activity	IEA
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:0042760	Process	Very long-chain fatty acid catabolic process	IBA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	9425230
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	17609205
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IDA	29397936
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1903512	Process	Phytanic acid metabolic process	IEA
GO:1903512	Process	Phytanic acid metabolic process	ISS

MIM	HGNC	e!Ensembl
170995	67	ENSG00000117528

P28288

Protein name

ATP-binding cassette sub-family D member 3 (EC 3.1.2.-) (EC 7.6.2.-) (70 kDa peroxisomal membrane protein) (PMP70)

Protein function

Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the

PDB

8Z0F , 8Z9X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06472	ABC_membrane_2	70 → 338	ABC transporter transmembrane region 2	Family
PF00005	ABC_tran	456 → 599	ABC transporter	Domain

Sequence

MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVD
KVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK
DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDN
RIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVS
GLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLV
EHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQS
GRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEG
VQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS
SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDL
VLKEYLDNVQLGHILEREGGWDSVQDWMDVLSGGEKQRMAMARLFYHKPQFAILDECTSA
VSVDVEGYIYSHCRKVGITLFTVSHRKSLWKHHEYYLHMDGRGNYEFKQITEDTVEFGS

Sequence length

659

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 Unknown Diseases (11)

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.
ABCD3-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; 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
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bile acid synthesis defect 5	Benign; Likely benign	ClinVar ClinGen, ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11422379, 15800013, 19406244, 20661612, 23671276, 24239766, 9425230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	LHGDN	17602313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	20661612, 23671276, 30544401, 7717396, 7876858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	15800013		★★★★★ ★☆☆☆☆ Found in Text Mining only
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5	Congenital Bile Acid Synthesis Defect	GENOMICS_ENGLAND_DG	25168382		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5	Congenital Bile Acid Synthesis Defect	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	10357777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34651050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28647418, 30414298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20378009, 35959373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28731463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25802834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	25802834	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	28647418, 31230922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28647418, 31230922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	CTD_human_DG	1301993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Spectrum	Zellweger Syndrome	BEFREE	29773809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	1301993, 8577752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	1301993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	1301993		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCD3 (ATP binding cassette subfamily D member 3)