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

Show/Hide all (239)

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

183

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic	rs2129734219	RCV001814393
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA	Likely pathogenic; Pathogenic	rs121917849	RCV000009708
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY	Pathogenic; Likely pathogenic	rs397515378, rs397515377, rs397515379, rs121917851, rs181109321	RCV000009709 RCV000009707 RCV000009710 RCV000009712 RCV001810447
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 RCV005040451 RCV003464323 RCV002308290 RCV002309074 RCV002309525 RCV000169325 RCV000169618 RCV000190635 RCV003464637 RCV003464646 RCV000055806 RCV000055795 RCV000055800 RCV000055797 RCV000258013 RCV003464748 RCV003464749 RCV003464750 RCV003464751 RCV003464752 RCV003464753 RCV003464754 RCV003466482 RCV003464755 RCV004573800 RCV004577937 RCV000410520 RCV000410232 RCV000411832 RCV000412004 RCV000410811 RCV000412204 RCV000415204 RCV000664882 RCV000675035 RCV000673712 RCV000673347 RCV000666313 RCV000780785 RCV000055796 RCV000055798 RCV000055801 RCV000988071 RCV003467729
Retinal dystrophy	Pathogenic	rs397515379, rs121917851	RCV004814866 RCV004814867
TTPA-related disorder	Likely pathogenic; Pathogenic	rs786204758, rs121917851	RCV003416054 RCV004755726

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Conflicting classifications of pathogenicity	rs35916840	RCV005890375
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs35916840	RCV005890374
Melanoma	Uncertain significance	rs181109321	RCV005901506

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	10727494, 10896705, 18458655, 34759169, 7887897
Ataxia with vitamin E deficiency	Associate	14657365, 23713716, 7887897, 9463307
Carcinoma Hepatocellular	Associate	27355945
Cardiomyopathies	Associate	9463307
Deafness	Associate	10896705
Dystonia	Associate	9463307
Endometrial Neoplasms	Associate	28213729
Fabry Disease	Associate	14657365
Head and Neck Neoplasms	Associate	9463307
Neoplasms	Associate	28213729
Nerve Degeneration	Associate	23713716
Neurodegenerative Diseases	Associate	23713716
Prostatic Neoplasms	Associate	27197287
Retinitis Pigmentosa	Associate	10727494, 10896705, 11707779
Spinocerebellar Ataxias	Associate	14657365
Spinocerebellar Degenerations	Associate	7566022
Tooth Loss	Associate	10727494
Urinary Fistula	Associate	10896705
Vitamin E Deficiency	Associate	10727494, 18458655, 34759169, 7887897

TTPA (alpha tocopherol transfer protein)