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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	113612
Gene name	Cytochrome P450 family 2 subfamily U member 1
Gene symbol	CYP2U1
Synonyms (NCBI Gene)	P450TECSPG49SPG56
Chromosome	4
Chromosome location	4q25
Summary	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a h

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Show/Hide all (172)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019811	hsa-miR-375	Microarray	20215506
MIRT020782	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT022645	hsa-miR-124-3p	Microarray	18668037
MIRT031184	hsa-miR-19b-3p	Sequencing	20371350
MIRT647217	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT647216	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT647215	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT647214	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT647213	hsa-miR-1200	HITS-CLIP	23824327
MIRT647212	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT647211	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT647210	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT647209	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT567867	hsa-miR-3662	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092964	hsa-miR-548aw	PAR-CLIP	20371350
MIRT211016	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT558493	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT092964	hsa-miR-548aw	PAR-CLIP	21572407
MIRT211016	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT647217	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT647216	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT647215	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT647214	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT647213	hsa-miR-1200	HITS-CLIP	23824327
MIRT647212	hsa-miR-488-3p	HITS-CLIP	23824327
MIRT647211	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT647210	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT647209	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT567867	hsa-miR-3662	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092964	hsa-miR-548aw	PAR-CLIP	20371350
MIRT211016	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT092955	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT092962	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT092958	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT092959	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT092960	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT092957	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT092954	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT031184	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT558493	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT092964	hsa-miR-548aw	PAR-CLIP	21572407
MIRT211016	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT921407	hsa-miR-1238	CLIP-seq
MIRT921408	hsa-miR-181a	CLIP-seq
MIRT921409	hsa-miR-181b	CLIP-seq
MIRT921410	hsa-miR-181c	CLIP-seq
MIRT921411	hsa-miR-181d	CLIP-seq
MIRT921412	hsa-miR-1825	CLIP-seq
MIRT921413	hsa-miR-199a-5p	CLIP-seq
MIRT921414	hsa-miR-199b-5p	CLIP-seq
MIRT921415	hsa-miR-3121-5p	CLIP-seq
MIRT921416	hsa-miR-370	CLIP-seq
MIRT921417	hsa-miR-374a	CLIP-seq
MIRT921418	hsa-miR-374b	CLIP-seq
MIRT921419	hsa-miR-3915	CLIP-seq
MIRT921420	hsa-miR-3928	CLIP-seq
MIRT921421	hsa-miR-4262	CLIP-seq
MIRT921422	hsa-miR-4470	CLIP-seq
MIRT921423	hsa-miR-4476	CLIP-seq
MIRT921424	hsa-miR-4652-3p	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT921426	hsa-miR-4778-5p	CLIP-seq
MIRT921427	hsa-miR-4789-5p	CLIP-seq
MIRT921428	hsa-miR-541	CLIP-seq
MIRT921429	hsa-miR-605	CLIP-seq
MIRT921430	hsa-miR-654-5p	CLIP-seq
MIRT1921976	hsa-miR-4659a-3p	CLIP-seq
MIRT1921977	hsa-miR-4659b-3p	CLIP-seq
MIRT1973003	hsa-miR-1208	CLIP-seq
MIRT1973004	hsa-miR-1283	CLIP-seq
MIRT921422	hsa-miR-4470	CLIP-seq
MIRT1921976	hsa-miR-4659a-3p	CLIP-seq
MIRT1921977	hsa-miR-4659b-3p	CLIP-seq
MIRT1973005	hsa-miR-4775	CLIP-seq
MIRT1973006	hsa-miR-515-5p	CLIP-seq
MIRT1973007	hsa-miR-548a-5p	CLIP-seq
MIRT1973008	hsa-miR-548ab	CLIP-seq
MIRT1973009	hsa-miR-548ak	CLIP-seq
MIRT1973010	hsa-miR-548b-5p	CLIP-seq
MIRT1973011	hsa-miR-548c-5p	CLIP-seq
MIRT1973012	hsa-miR-548d-5p	CLIP-seq
MIRT1973013	hsa-miR-548h	CLIP-seq
MIRT1973014	hsa-miR-548i	CLIP-seq
MIRT1973015	hsa-miR-548j	CLIP-seq
MIRT1973016	hsa-miR-548n	CLIP-seq
MIRT1973017	hsa-miR-548w	CLIP-seq
MIRT1973018	hsa-miR-548y	CLIP-seq
MIRT1973019	hsa-miR-559	CLIP-seq
MIRT1973020	hsa-miR-607	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT1973022	hsa-miR-942	CLIP-seq
MIRT1973003	hsa-miR-1208	CLIP-seq
MIRT2208640	hsa-miR-124	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT921416	hsa-miR-370	CLIP-seq
MIRT921419	hsa-miR-3915	CLIP-seq
MIRT921420	hsa-miR-3928	CLIP-seq
MIRT2208642	hsa-miR-4326	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT2208644	hsa-miR-4691-5p	CLIP-seq
MIRT2208645	hsa-miR-506	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2447919	hsa-miR-155	CLIP-seq
MIRT2447920	hsa-miR-2053	CLIP-seq
MIRT2447921	hsa-miR-4424	CLIP-seq
MIRT921425	hsa-miR-4663	CLIP-seq
MIRT2447922	hsa-miR-4682	CLIP-seq
MIRT2447923	hsa-miR-4728-3p	CLIP-seq
MIRT2447924	hsa-miR-569	CLIP-seq
MIRT2512475	hsa-miR-3115	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT2512476	hsa-miR-3936	CLIP-seq
MIRT2512477	hsa-miR-4293	CLIP-seq
MIRT2512478	hsa-miR-450b-3p	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT2512479	hsa-miR-4713-3p	CLIP-seq
MIRT2512480	hsa-miR-4786-5p	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT2512481	hsa-miR-596	CLIP-seq
MIRT2512482	hsa-miR-638	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2512483	hsa-miR-769-3p	CLIP-seq
MIRT2678976	hsa-miR-135a	CLIP-seq
MIRT2678977	hsa-miR-135b	CLIP-seq
MIRT2512475	hsa-miR-3115	CLIP-seq
MIRT2678978	hsa-miR-3130-5p	CLIP-seq
MIRT2678979	hsa-miR-337-5p	CLIP-seq
MIRT2208641	hsa-miR-338-3p	CLIP-seq
MIRT2512476	hsa-miR-3936	CLIP-seq
MIRT2512477	hsa-miR-4293	CLIP-seq
MIRT2678980	hsa-miR-4464	CLIP-seq
MIRT2678981	hsa-miR-4482	CLIP-seq
MIRT2678982	hsa-miR-4485	CLIP-seq
MIRT2512478	hsa-miR-450b-3p	CLIP-seq
MIRT2208643	hsa-miR-4530	CLIP-seq
MIRT2678983	hsa-miR-4672	CLIP-seq
MIRT2512479	hsa-miR-4713-3p	CLIP-seq
MIRT2678984	hsa-miR-4748	CLIP-seq
MIRT2512480	hsa-miR-4786-5p	CLIP-seq
MIRT2678985	hsa-miR-4797-5p	CLIP-seq
MIRT2208646	hsa-miR-508-5p	CLIP-seq
MIRT2512481	hsa-miR-596	CLIP-seq
MIRT2678986	hsa-miR-606	CLIP-seq
MIRT2512482	hsa-miR-638	CLIP-seq
MIRT1973021	hsa-miR-766	CLIP-seq
MIRT2512483	hsa-miR-769-3p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IBA
GO:0008395	Function	Steroid hydroxylase activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0052869	Function	Arachidonate omega-hydroxylase activity	IDA	24563460
GO:0052869	Function	Arachidonate omega-hydroxylase activity	IEA
GO:0097267	Process	Omega-hydroxylase P450 pathway	IDA	24563460
GO:0097267	Process	Omega-hydroxylase P450 pathway	TAS
GO:0102033	Function	Long-chain fatty acid omega-hydroxylase activity	IEA
GO:1903604	Process	Cytochrome metabolic process	TAS

MIM	HGNC	e!Ensembl
610670	20582	ENSG00000155016

Q7Z449

Protein name

Cytochrome P450 2U1 (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	101 → 541	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with stronger expression in thymus, heart and cerebellum. {ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:14975754, ECO:0000269|PubMed:15752708}.

Sequence

MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVALLGWSWLRRRRARGIP
PGPTPWPLVGNFGHVLLPPFLRRRSWLSSRTRAAGIDPSVIGPQVLLAHLARVYGSIFSF
FIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVTKEKGVVFAHYGPVWRQQRKF
SHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPFCPFSIISNAVSNIICSLCFGQR
FDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWLYYLPFGPFKELRQIEKDITSFLKK
IIKDHQESLDRENPQDFIDMYLLHMEEERKNNSNSSFDEEYLFYIIGDLFIAGTDTTTNS
LLWCLLYMSLNPDVQEKVHEEIERVIGANRAPSLTDKAQMPYTEATIMEVQRLTVVVPLA
IPHMTSENTVLQGYTIPKGTLILPNLWSVHRDPAIWEKPEDFYPNRFLDDQGQLIKKETF
IPFGIGKRVCMGEQLAKMELFLMFVSLMQSFAFALPEDSKKPLLTGRFGLTLAPHPFNIT
ISRR

Sequence length

544

Interactions

View interactions

	KEGG		Reactome
	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways		Miscellaneous substrates Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs2126199263	RCV001814380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CYP2U1-related disorder	Pathogenic; Likely pathogenic	rs767024102, rs397514513, rs759033144	RCV004751565 RCV004751232 RCV003420263	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs397514513	RCV000162142	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs766889023, rs781551534, rs141431913	RCV001847253 RCV001848371 RCV001847627	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 56	Likely pathogenic; Pathogenic	rs766889023, rs2126202736, rs2126187981, rs2126199411, rs539068584, rs1178005151, rs1183645965, rs2477023952, rs766380148, rs767024102, rs761575210, rs1553937522, rs397514513, rs397514514, rs2476952905 View all (8 more)	RCV004576988 RCV002248350 RCV002248351 RCV002248352 RCV002290222 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs1733648064	RCV001258323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb spasticity	Pathogenic	rs1733648064	RCV001258323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration	Likely pathogenic; Pathogenic	rs397514513	RCV000162142	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1733648064	RCV001258323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs766889023, rs2126199530, rs766970458, rs1178005151, rs2477025279, rs2477022028, rs767024102, rs397514513, rs141431913, rs1021034246, rs772400670, rs759033144, rs768640920, rs1578729121, rs762698300	RCV001379753 RCV001386606 RCV002000909 RCV002676518 RCV003751958 View all (10 more)	★★★★★ ★★★★★ 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.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26556829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	23176821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24337409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 56	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30651572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	34828401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	26914923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	27292318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia 18	Dystonia	Pubtator	27292318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	27292318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	27679996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	23176821, 24337409, 26914923, 27292318, 28725025, 29034544, 31281085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	23176821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27292318	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular Degeneration	Macular degeneration	Pubtator	27292318, 34828401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30651572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30651572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24284334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	27292318, 33107650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26556829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829, 27292318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	26556829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	33107650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26914923, 27292318, 28725025		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 56, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23176821		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	23176821		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	23176821		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	23176821, 24337409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	23176821, 24337409, 26556829, 27292318, 27679996, 29034544, 33107650, 34828401, 36166872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	23176821		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	26914923, 26936192, 27406698, 28083596, 29034544		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CYP2U1 (cytochrome P450 family 2 subfamily U member 1)