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	arts syndrome

Disease ID	1970
Disease	arts syndrome
Synonym	ataxia, fatal x-linked, with deafness and loss of vision ataxia-deafness-optic atrophy, lethal fatal x-linked ataxia with deafness and loss of vision fatal x-linked ataxia with deafness and loss of vision (disorder) lethal ataxia-deafness-optic atrophy mental retardation, x-linked, syndromic 18 mental retardation, x-linked, syndromic, arts type mrxs18 mrxsarts x-linked fatal ataxia with deafness and loss of vision
Orphanet	ORPHANET:1187
OMIM	OMIM:301835
DOID	DOID:0050647
UMLS	C0796028
SNOMED-CT	SNOMEDCT_US_2016_09_01:702441001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0029132 \| optic neuropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5631 \| PRPS1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 1646 \| AKR1C2 \| 2.451 \| DISEASES 8905 \| AP1S2 \| 3.447 \| DISEASES 54840 \| APTX \| 1.807 \| DISEASES 408 \| ARRB1 \| 1.479 \| DISEASES 92714 \| ARRDC1 \| 4.177 \| DISEASES 419 \| ART3 \| 5.016 \| DISEASES 116969 \| ART5 \| 4.938 \| DISEASES 427 \| ASAH1 \| 1.149 \| DISEASES 54897 \| CASZ1 \| 2.343 \| DISEASES 1028 \| CDKN1C \| 2.489 \| DISEASES 1118 \| CHIT1 \| 1.909 \| DISEASES 8788 \| DLK1 \| 1.359 \| DISEASES 1786 \| DNMT1 \| 1.504 \| DISEASES 1789 \| DNMT3B \| 1.011 \| DISEASES 1781 \| DYNC1I2 \| 1.886 \| DISEASES 2224 \| FDPS \| 1.334 \| DISEASES 2492 \| FSHR \| 2.527 \| DISEASES 2596 \| GAP43 \| 1.216 \| DISEASES 2701 \| GJA4 \| 1.907 \| DISEASES 2705 \| GJB1 \| 1.088 \| DISEASES 9555 \| H2AFY \| 2.546 \| DISEASES 9464 \| HAND2 \| 1.273 \| DISEASES 3135 \| HLA-G \| 1.062 \| DISEASES 3481 \| IGF2 \| 1.414 \| DISEASES 10984 \| KCNQ1OT1 \| 4.285 \| DISEASES 7403 \| KDM6A \| 1.736 \| DISEASES 3805 \| KIR2DL4 \| 2.592 \| DISEASES 11202 \| KLK8 \| 1.769 \| DISEASES 4477 \| MSMB \| 2.482 \| DISEASES 9788 \| MTSS1 \| 1.86 \| DISEASES 4734 \| NEDD4 \| 2.717 \| DISEASES 23327 \| NEDD4L \| 4.033 \| DISEASES 84461 \| NEURL4 \| 5.046 \| DISEASES 199713 \| NLRP7 \| 2.331 \| DISEASES 5016 \| OVGP1 \| 1.052 \| DISEASES 5027 \| P2RX7 \| 3.781 \| DISEASES 5069 \| PAPPA \| 1.851 \| DISEASES 142 \| PARP1 \| 3.447 \| DISEASES 84875 \| PARP10 \| 3.517 \| DISEASES 54625 \| PARP14 \| 2.729 \| DISEASES 5178 \| PEG3 \| 2.081 \| DISEASES 5325 \| PLAGL1 \| 1.816 \| DISEASES 11284 \| PNKP \| 2.554 \| DISEASES 4860 \| PNP \| 1.248 \| DISEASES 5456 \| POU3F4 \| 1.956 \| DISEASES 5518 \| PPP2R1A \| 2.298 \| DISEASES 5631 \| PRPS1 \| 5.661 \| DISEASES 221823 \| PRPS1L1 \| 3.68 \| DISEASES 6295 \| SAG \| 3.664 \| DISEASES 23410 \| SIRT3 \| 1.042 \| DISEASES 23408 \| SIRT5 \| 1.44 \| DISEASES 51548 \| SIRT6 \| 1.256 \| DISEASES 51547 \| SIRT7 \| 1.406 \| DISEASES 6648 \| SOD2 \| 1.931 \| DISEASES 51592 \| TRIM33 \| 4.607 \| DISEASES 10628 \| TXNIP \| 1.156 \| DISEASES 23038 \| WDTC1 \| 4.916 \| DISEASES 11060 \| WWP2 \| 2.526 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1970
Disease	arts syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001138 \| Damaged optic nerve \| 1

Disease ID	1970
Disease	arts syndrome
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:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs398122855	NA	5631	PRPS1	umls:C0796028	CLINVAR	NA	0.480814326	NA	PRPS1	X	107642384	G	C
rs80338675	NA	5631	PRPS1	umls:C0796028	CLINVAR	NA	0.480814326	NA	PRPS1	X	107640993	A	C
rs80338676	NA	5631	PRPS1	umls:C0796028	CLINVAR	NA	0.480814326	NA	PRPS1	X	107642415	T	C

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1970
Disease	arts syndrome
Case	(Waiting for update.)

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