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encyclopedia of Rare Disease Annotation for Precision Medicine

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	ataxia with isolated vitamin e deficiency

Disease ID	1647
Disease	ataxia with isolated vitamin e deficiency
Synonym	ataxia with vitamin e deficiency ataxia with vitamin e deficiency (disorder) ataxia, friedreich-like, with selective vitamin e deficiency aved familial isolated deficiency of vitamin e familial isolated vitamin e deficiency friedreich ataxia phenotype with selective vitamin e deficiency friedreich-like ataxia friedreich-like ataxia with selective vitamin e deficiency ved vitamin e, familial isolated deficiency of
Orphanet	ORPHANET:96
OMIM	OMIM:277460
UMLS	C1848533
SNOMED-CT	SNOMEDCT_US_2016_09_01:702442008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0004134 \| ataxia \| 4 C0031117 \| peripheral neuropathy \| 1 C0042875 \| vitamin e deficiency \| 1 C0442874 \| neuropathy \| 1 C0024437 \| macular degeneration \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 338 \| APOB \| CTD_human 335 \| APOA1 \| CTD_human 7274 \| TTPA \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:5) 19 \| ABCA1 \| 1.694 \| DISEASES 174 \| AFP \| 1.536 \| DISEASES 2395 \| FXN \| 2.317 \| DISEASES 26278 \| SACS \| 3.845 \| DISEASES 63826 \| SRR \| 4.318 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1647
Disease	ataxia with isolated vitamin e deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0002155 \| Increased triglycerides HP:0003141 \| Hyperbetalipoproteinemia HP:0001251 \| Ataxia HP:0100513 \| Vitamin E deficiency HP:0001284 \| Areflexia HP:0010874 \| Tendon xanthomatosis HP:0003124 \| Elevated serum cholesterol HP:0001114 \| Fatty deposits on eyelids
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001251 \| Ataxia \| 4 HP:0000608 \| Macular degeneration \| 1 HP:0100513 \| Vitamin E deficiency \| 1 HP:0009830 \| Peripheral neuritis \| 1

Disease ID	1647
Disease	ataxia with isolated vitamin e deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:18)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121917849	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63072990	A	C
rs121917850	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63064294	C	T
rs121917851	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63066056	G	A
rs143010236	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63072935	C	T
rs28936369	15065857	7274	TTPA	umls:C1848533	UNIPROT	We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients.	0.565971721	2004	NA	NA	NA	NA	NA
rs35916840	15065857	7274	TTPA	umls:C1848533	UNIPROT	We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients.	0.565971721	2004	TTPA	8	63064208	G	A
rs35916840	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63064208	G	A
rs397515377	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63061345	T	-
rs397515378	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63065970	A	-
rs397515379	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63065942	-	AA
rs397515522	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63085847	G	A
rs397515523	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63085831	T	C
rs397515524	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63066035	C	T
rs397515525	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63065908	A	G
rs397515526	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63061353	C	G
rs748164236	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63065969	A	-
rs760014795	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63086003	G	-
rs786204758	NA	7274	TTPA	umls:C1848533	CLINVAR	NA	0.565971721	NA	TTPA	8	63086020	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100513	Vitamin E deficiency	MP:0011231	abnormal vitamin E level	any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant

Mapped by homologous gene(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003141	Hyperbetalipoproteinemia	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0010874	Tendon xanthomatosis	MP:0011231	abnormal vitamin E level	any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
HP:0001114	Xanthelasma	MP:0011231	abnormal vitamin E level	any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant
HP:0003124	Hypercholesterolemia	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0001284	Areflexia	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002155	Hypertriglyceridemia	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0100513	Vitamin E deficiency	MP:0011231	abnormal vitamin E level	any anomaly in the concentration of vitamin E, tocopherol, including a series of eight structurally similar compounds; alpha-tocopherol is the most active form in humans and is a powerful biological antioxidant

Disease ID	1647
Disease	ataxia with isolated vitamin e deficiency
Case	(Waiting for update.)

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