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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7274
Gene name Gene Name - the full gene name approved by the HGNC.	Alpha tocopherol transfer protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TTPA
Synonyms (NCBI Gene) Gene synonyms aliases	ATTP, AVED, TTP1, alphaTTP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AVED
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(32)

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

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(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005770	Component	Late endosome	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	TAS	7887897
GO:0007584	Process	Response to nutrient	IEA
GO:0008431	Function	Vitamin E binding	IBA	21873635
GO:0008431	Function	Vitamin E binding	ISS
GO:0009268	Process	Response to pH	IEA
GO:0032502	Process	Developmental process	IEA
GO:0042360	Process	Vitamin E metabolic process	IBA	21873635
GO:0042360	Process	Vitamin E metabolic process	TAS
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	ISS
GO:0051180	Process	Vitamin transport	IBA	21873635
GO:0051180	Process	Vitamin transport	ISS
GO:0051452	Process	Intracellular pH reduction	IEA
GO:0060548	Process	Negative regulation of cell death	IEA
GO:0120009	Process	Intermembrane lipid transfer	ISS
GO:0120013	Function	Lipid transfer activity	IBA	21873635
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IBA	21873635

MIM	HGNC	e!Ensembl
600415	12404	ENSG00000137561

Protein

UniProt ID

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

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Ataxia	Ataxias, Hereditary	rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986 View all (52 more)	26981194
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Friedreich ataxia	Ataxia with vitamin E deficiency	rs104894105, rs140987490, rs104894106, rs104894108, rs56214919, rs141935559, rs886037630, rs143232208, rs146818694	12470185, 8602747, 7719340, 18458655, 10360777, 24369383, 12899840, 11752462, 19566498, 23445347, 26068213, 9463307, 15300460, 25614784, 12907280 View all (10 more)
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034 View all (1161 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	10896705
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Atherosclerosis	Atherosclerosis		11095717	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
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)