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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7274
Gene name	Alpha tocopherol transfer protein
Gene symbol	TTPA
Synonyms (NCBI Gene)	ATTPAVEDTTP1alphaTTP
Chromosome	8
Chromosome location	8q12.3
Summary	This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35916840	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121917849	A>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121917850	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121917851	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs143010236	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs181109321	C>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, intron variant
rs397515377	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515378	A>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397515379	->AA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs397515523	T>C	Pathogenic	Coding sequence variant, missense variant
rs397515524	C>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant, stop gained
rs397515525	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs397515526	C>G	Pathogenic	Coding sequence variant, missense variant
rs758349851	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs760014795	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204758	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs886040963	C>A,G,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs886040964	A>T	Pathogenic	Splice donor variant, intron variant
rs982650476	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1008240677	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516423	T>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1057517448	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1408863841	T>A,C	Likely-pathogenic	Missense variant, initiator codon variant
rs1554523526	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554524061	TCC>AAT	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554525125	CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554525128	GCCGCAGCGCCGCCAGGCCCGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554605498	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554605631	CT>ACTTAC	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563363293	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1563678770	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1563678790	C>A	Pathogenic	Coding sequence variant, stop gained

239

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024457	hsa-miR-215-5p	Microarray	19074876
MIRT026314	hsa-miR-192-5p	Microarray	19074876
MIRT1462520	hsa-miR-1258	CLIP-seq
MIRT1462521	hsa-miR-129-5p	CLIP-seq
MIRT1462522	hsa-miR-1323	CLIP-seq
MIRT1462523	hsa-miR-146a	CLIP-seq
MIRT1462524	hsa-miR-146b-5p	CLIP-seq
MIRT1462525	hsa-miR-24	CLIP-seq
MIRT1462526	hsa-miR-3120-5p	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462528	hsa-miR-3187-3p	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462530	hsa-miR-323-5p	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462533	hsa-miR-3650	CLIP-seq
MIRT1462534	hsa-miR-3662	CLIP-seq
MIRT1462535	hsa-miR-3664-5p	CLIP-seq
MIRT1462536	hsa-miR-3672	CLIP-seq
MIRT1462537	hsa-miR-3688-5p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT1462539	hsa-miR-380	CLIP-seq
MIRT1462540	hsa-miR-3926	CLIP-seq
MIRT1462541	hsa-miR-4284	CLIP-seq
MIRT1462542	hsa-miR-4432	CLIP-seq
MIRT1462543	hsa-miR-4433	CLIP-seq
MIRT1462544	hsa-miR-4435	CLIP-seq
MIRT1462545	hsa-miR-4453	CLIP-seq
MIRT1462546	hsa-miR-4459	CLIP-seq
MIRT1462547	hsa-miR-4470	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT1462549	hsa-miR-4522	CLIP-seq
MIRT1462550	hsa-miR-4538	CLIP-seq
MIRT1462551	hsa-miR-4634	CLIP-seq
MIRT1462552	hsa-miR-4643	CLIP-seq
MIRT1462553	hsa-miR-4645-3p	CLIP-seq
MIRT1462554	hsa-miR-4655-5p	CLIP-seq
MIRT1462555	hsa-miR-4662a-5p	CLIP-seq
MIRT1462556	hsa-miR-4676-5p	CLIP-seq
MIRT1462557	hsa-miR-4701-5p	CLIP-seq
MIRT1462558	hsa-miR-4717-3p	CLIP-seq
MIRT1462559	hsa-miR-4755-3p	CLIP-seq
MIRT1462560	hsa-miR-4766-5p	CLIP-seq
MIRT1462561	hsa-miR-4768-3p	CLIP-seq
MIRT1462562	hsa-miR-4775	CLIP-seq
MIRT1462563	hsa-miR-4786-3p	CLIP-seq
MIRT1462564	hsa-miR-4786-5p	CLIP-seq
MIRT1462565	hsa-miR-4802-3p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT1462568	hsa-miR-500a	CLIP-seq
MIRT1462569	hsa-miR-548o	CLIP-seq
MIRT1462570	hsa-miR-548s	CLIP-seq
MIRT1462571	hsa-miR-575	CLIP-seq
MIRT1462572	hsa-miR-580	CLIP-seq
MIRT1462573	hsa-miR-588	CLIP-seq
MIRT1462574	hsa-miR-589	CLIP-seq
MIRT1462575	hsa-miR-590-3p	CLIP-seq
MIRT1462576	hsa-miR-665	CLIP-seq
MIRT1462577	hsa-miR-671-5p	CLIP-seq
MIRT1462578	hsa-miR-769-5p	CLIP-seq
MIRT1462579	hsa-miR-876-3p	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT1462554	hsa-miR-4655-5p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT1462521	hsa-miR-129-5p	CLIP-seq
MIRT1462523	hsa-miR-146a	CLIP-seq
MIRT1462524	hsa-miR-146b-5p	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT1462552	hsa-miR-4643	CLIP-seq
MIRT1462558	hsa-miR-4717-3p	CLIP-seq
MIRT1462565	hsa-miR-4802-3p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT1462572	hsa-miR-580	CLIP-seq
MIRT1462574	hsa-miR-589	CLIP-seq
MIRT2139123	hsa-miR-1236	CLIP-seq
MIRT2139124	hsa-miR-1297	CLIP-seq
MIRT1462523	hsa-miR-146a	CLIP-seq
MIRT1462524	hsa-miR-146b-5p	CLIP-seq
MIRT2139125	hsa-miR-2117	CLIP-seq
MIRT2139126	hsa-miR-23a	CLIP-seq
MIRT2139127	hsa-miR-23b	CLIP-seq
MIRT2139128	hsa-miR-23c	CLIP-seq
MIRT2139129	hsa-miR-26a	CLIP-seq
MIRT2139130	hsa-miR-26b	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462528	hsa-miR-3187-3p	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462536	hsa-miR-3672	CLIP-seq
MIRT1462537	hsa-miR-3688-5p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT2139131	hsa-miR-3908	CLIP-seq
MIRT1462540	hsa-miR-3926	CLIP-seq
MIRT2139132	hsa-miR-3942-5p	CLIP-seq
MIRT1462543	hsa-miR-4433	CLIP-seq
MIRT1462544	hsa-miR-4435	CLIP-seq
MIRT1462545	hsa-miR-4453	CLIP-seq
MIRT1462546	hsa-miR-4459	CLIP-seq
MIRT2139133	hsa-miR-4465	CLIP-seq
MIRT1462547	hsa-miR-4470	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT1462550	hsa-miR-4538	CLIP-seq
MIRT1462552	hsa-miR-4643	CLIP-seq
MIRT1462554	hsa-miR-4655-5p	CLIP-seq
MIRT1462557	hsa-miR-4701-5p	CLIP-seq
MIRT2139134	hsa-miR-4703-5p	CLIP-seq
MIRT1462558	hsa-miR-4717-3p	CLIP-seq
MIRT2139135	hsa-miR-4753-3p	CLIP-seq
MIRT2139136	hsa-miR-4766-3p	CLIP-seq
MIRT1462561	hsa-miR-4768-3p	CLIP-seq
MIRT1462564	hsa-miR-4786-5p	CLIP-seq
MIRT1462565	hsa-miR-4802-3p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT1462570	hsa-miR-548s	CLIP-seq
MIRT1462572	hsa-miR-580	CLIP-seq
MIRT1462573	hsa-miR-588	CLIP-seq
MIRT1462574	hsa-miR-589	CLIP-seq
MIRT1462578	hsa-miR-769-5p	CLIP-seq
MIRT2139123	hsa-miR-1236	CLIP-seq
MIRT2139124	hsa-miR-1297	CLIP-seq
MIRT1462523	hsa-miR-146a	CLIP-seq
MIRT1462524	hsa-miR-146b-5p	CLIP-seq
MIRT2139125	hsa-miR-2117	CLIP-seq
MIRT2359828	hsa-miR-22	CLIP-seq
MIRT2139129	hsa-miR-26a	CLIP-seq
MIRT2139130	hsa-miR-26b	CLIP-seq
MIRT2359829	hsa-miR-3064-3p	CLIP-seq
MIRT2359830	hsa-miR-3130-5p	CLIP-seq
MIRT2359831	hsa-miR-3160-3p	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462528	hsa-miR-3187-3p	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462537	hsa-miR-3688-5p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT1462539	hsa-miR-380	CLIP-seq
MIRT2139131	hsa-miR-3908	CLIP-seq
MIRT1462540	hsa-miR-3926	CLIP-seq
MIRT2359832	hsa-miR-3934	CLIP-seq
MIRT2139132	hsa-miR-3942-5p	CLIP-seq
MIRT2359833	hsa-miR-4273	CLIP-seq
MIRT1462541	hsa-miR-4284	CLIP-seq
MIRT1462544	hsa-miR-4435	CLIP-seq
MIRT2139133	hsa-miR-4465	CLIP-seq
MIRT1462547	hsa-miR-4470	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT2359834	hsa-miR-4482	CLIP-seq
MIRT2359835	hsa-miR-4487	CLIP-seq
MIRT1462549	hsa-miR-4522	CLIP-seq
MIRT1462551	hsa-miR-4634	CLIP-seq
MIRT1462552	hsa-miR-4643	CLIP-seq
MIRT1462554	hsa-miR-4655-5p	CLIP-seq
MIRT1462557	hsa-miR-4701-5p	CLIP-seq
MIRT2139134	hsa-miR-4703-5p	CLIP-seq
MIRT1462558	hsa-miR-4717-3p	CLIP-seq
MIRT2139135	hsa-miR-4753-3p	CLIP-seq
MIRT1462559	hsa-miR-4755-3p	CLIP-seq
MIRT2139136	hsa-miR-4766-3p	CLIP-seq
MIRT1462565	hsa-miR-4802-3p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT2359836	hsa-miR-5095	CLIP-seq
MIRT1462570	hsa-miR-548s	CLIP-seq
MIRT2359837	hsa-miR-552	CLIP-seq
MIRT2359838	hsa-miR-558	CLIP-seq
MIRT1462572	hsa-miR-580	CLIP-seq
MIRT1462573	hsa-miR-588	CLIP-seq
MIRT1462574	hsa-miR-589	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT1462554	hsa-miR-4655-5p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT2462654	hsa-miR-138	CLIP-seq
MIRT2653116	hsa-miR-1251	CLIP-seq
MIRT2653117	hsa-miR-1273	CLIP-seq
MIRT2653118	hsa-miR-217	CLIP-seq
MIRT1462526	hsa-miR-3120-5p	CLIP-seq
MIRT1462535	hsa-miR-3664-5p	CLIP-seq
MIRT2653119	hsa-miR-4293	CLIP-seq
MIRT2653120	hsa-miR-4418	CLIP-seq
MIRT1462542	hsa-miR-4432	CLIP-seq
MIRT2653121	hsa-miR-4486	CLIP-seq
MIRT2653122	hsa-miR-451b	CLIP-seq
MIRT1462549	hsa-miR-4522	CLIP-seq
MIRT2653123	hsa-miR-4649-5p	CLIP-seq
MIRT2653124	hsa-miR-4696	CLIP-seq
MIRT1462560	hsa-miR-4766-5p	CLIP-seq
MIRT2653125	hsa-miR-4793-3p	CLIP-seq
MIRT2653126	hsa-miR-509-3-5p	CLIP-seq
MIRT2653127	hsa-miR-509-5p	CLIP-seq
MIRT2653128	hsa-miR-596	CLIP-seq
MIRT2653129	hsa-miR-661	CLIP-seq
MIRT2653116	hsa-miR-1251	CLIP-seq
MIRT2653117	hsa-miR-1273	CLIP-seq
MIRT2653118	hsa-miR-217	CLIP-seq
MIRT1462526	hsa-miR-3120-5p	CLIP-seq
MIRT1462527	hsa-miR-3179	CLIP-seq
MIRT1462529	hsa-miR-3202	CLIP-seq
MIRT1462531	hsa-miR-329	CLIP-seq
MIRT1462532	hsa-miR-362-3p	CLIP-seq
MIRT1462535	hsa-miR-3664-5p	CLIP-seq
MIRT1462538	hsa-miR-377	CLIP-seq
MIRT2653119	hsa-miR-4293	CLIP-seq
MIRT2653120	hsa-miR-4418	CLIP-seq
MIRT1462542	hsa-miR-4432	CLIP-seq
MIRT1462548	hsa-miR-4476	CLIP-seq
MIRT2653121	hsa-miR-4486	CLIP-seq
MIRT2653122	hsa-miR-451b	CLIP-seq
MIRT1462549	hsa-miR-4522	CLIP-seq
MIRT2653123	hsa-miR-4649-5p	CLIP-seq
MIRT2653124	hsa-miR-4696	CLIP-seq
MIRT2653125	hsa-miR-4793-3p	CLIP-seq
MIRT1462566	hsa-miR-499-3p	CLIP-seq
MIRT1462567	hsa-miR-499a-3p	CLIP-seq
MIRT2653126	hsa-miR-509-3-5p	CLIP-seq
MIRT2653127	hsa-miR-509-5p	CLIP-seq
MIRT2653128	hsa-miR-596	CLIP-seq
MIRT2653129	hsa-miR-661	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001890	Process	Placenta development	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	TAS	7887897
GO:0008289	Function	Lipid binding	IEA
GO:0008431	Function	Vitamin E binding	IBA
GO:0008431	Function	Vitamin E binding	IEA
GO:0008431	Function	Vitamin E binding	ISS
GO:0008431	Function	Vitamin E binding	TAS	7887897
GO:0009636	Process	Response to toxic substance	IEA
GO:0042360	Process	Vitamin E metabolic process	IBA
GO:0042360	Process	Vitamin E metabolic process	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	ISS
GO:0051180	Process	Vitamin transport	IBA
GO:0051180	Process	Vitamin transport	IEA
GO:0051180	Process	Vitamin transport	ISS
GO:0090212	Process	Negative regulation of establishment of blood-brain barrier	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120009	Process	Intermembrane lipid transfer	ISS
GO:0120013	Function	Lipid transfer activity	IBA
GO:0120013	Function	Lipid transfer activity	IEA
GO:1900223	Process	Positive regulation of amyloid-beta clearance	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IBA

MIM	HGNC	e!Ensembl
600415	12404	ENSG00000137561

P49638

Protein name

Alpha-tocopherol transfer protein (Alpha-TTP)

Protein function

Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate; the resulting con

PDB

1OIP , 1OIZ , 1R5L , 5MUE , 5MUG , 6ZPD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03765	CRAL_TRIO_N	38 → 72	CRAL/TRIO, N-terminal domain	Domain
PF00650	CRAL_TRIO	95 → 248	CRAL/TRIO domain	Domain

Sequence

MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAPLPLTDSFLLRFLRARD
FDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHGVLRSRDPTGSKVLIYRIA
HWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDLEGWQFSHAFQITPSVAKKIA
AVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKIKERIHMHGNNYKQSLLQHFPDI
LPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISESIQ

Sequence length

278

Interactions

View interactions

	Reactome
			Vitamin E

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic	rs2129734219	RCV001814393	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA	Likely pathogenic; Pathogenic	rs121917849	RCV000009708	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY	Pathogenic; Likely pathogenic	rs397515378, rs397515377, rs397515379, rs121917851, rs181109321	RCV000009709 RCV000009707 RCV000009710 RCV000009712 RCV001810447	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial isolated deficiency of vitamin E	Pathogenic; Likely pathogenic	rs2129741848, rs1805745954, rs1351036862, rs1805742556, rs1254934478, rs1805352418, rs766675875, rs2487147613, rs2487147481, rs2487200395, rs397515378, rs786204758, rs760014795, rs2487201275, rs2487143337 View all (31 more)	RCV001647211 RCV003469720 RCV003469770 RCV003463057 RCV005225549 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic	rs397515379, rs121917851	RCV004814866 RCV004814867	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TTPA-related disorder	Likely pathogenic; Pathogenic	rs786204758, rs121917851	RCV003416054 RCV004755726	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
ATAXIA WITH VITAMIN E DEFICIENCY	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN E DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	25066259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	10727494, 10896705, 18458655, 34759169, 7887897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia with vitamin E deficiency	Friedreich Ataxia	CLINVAR_DG	10360777, 11013295, 12039660, 12112220, 12470185, 12899840, 12907280, 15300460, 15953402, 18458655, 19566498, 22696689, 23445347, 24369383, 25614784 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	CTD_human_DG	10896705, 11752462, 12470185, 15300460, 18458655, 19566498		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	BEFREE	12039660, 12470185, 12899840, 12907280, 15065857, 15300460, 17049453, 17112370, 17628170, 17628171, 18458655, 20464573, 23077608, 23713716, 24369383 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Ataxia with vitamin e deficiency	Pubtator	14657365, 23713716, 7887897, 9463307	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	UNIPROT_DG	15065857, 15300460, 7566022, 8602747, 9463307		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia with vitamin E deficiency	Friedreich Ataxia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12470185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16491383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	GENOMICS_ENGLAND_DG	26981194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	CTD_human_DG	11095717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27355945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	9463307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	10896705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslalia	Dyslalia	CTD_human_DG	10896705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	9463307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28213729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28213729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	14657365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	12470185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	9463307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	CTD_human_DG	10896705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	16052206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	9178827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	25066259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28213729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19190344, 27197287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28213729, 29217732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	15466927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29217732, 9178827		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	11752462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	16819822		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23713716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12470185, 15300460, 17628170, 18458655, 23713716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29999516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19190344, 27197287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27197287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	CTD_human_DG	11752462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10727494, 11707779, 11754917, 12039660, 25066259		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	10727494, 10896705, 11707779	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	10896705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatosensory Disorders	Somatosensory Disorders	CTD_human_DG	10896705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	CTD_human_DG	10896705		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	17112370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	14657365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urination Disorders	Urination Disorders	CTD_human_DG	10896705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disability	Vision Disability	CTD_human_DG	10896705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin E Deficiency	Vitamin E Deficiency	BEFREE	10727494, 11013295, 11754917, 15953402, 23445347, 30586912, 8602747, 9178827, 9189046		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin E Deficiency	Vitamin e deficiency	Pubtator	10727494, 18458655, 34759169, 7887897	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin E Deficiency	Vitamin E Deficiency	CTD_human_DG	11095717		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin E Deficiency	Vitamin E Deficiency	LHGDN	15065857, 15300460		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthoma	Xanthoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthoma tendinosum	Xanthoma Tendinosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TTPA (alpha tocopherol transfer protein)