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Pediatric Disease Annotations & Medicines



   arts syndrome
  

Disease ID 1175
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
OMIM
DOID
UMLS
C0796028
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0029132  |  optic neuropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
PRPS1  |  5631  |  CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:108)
440  |  ASNS  |  DISEASES
23409  |  SIRT4  |  DISEASES
23411  |  SIRT1  |  DISEASES
4627  |  MYH9  |  DISEASES
158  |  ADSL  |  DISEASES
3002  |  GZMB  |  DISEASES
10857  |  PGRMC1  |  DISEASES
4232  |  MEST  |  DISEASES
952  |  CD38  |  DISEASES
420  |  ART4  |  DISEASES
3003  |  GZMK  |  DISEASES
6402  |  SELL  |  DISEASES
5620  |  PRM2  |  DISEASES
10268  |  RAMP3  |  DISEASES
7130  |  TNFAIP6  |  DISEASES
6237  |  RRAS  |  DISEASES
22933  |  SIRT2  |  DISEASES
10038  |  PARP2  |  DISEASES
417  |  ART1  |  DISEASES
7251  |  TSG101  |  DISEASES
2488  |  FSHB  |  DISEASES
1965  |  EIF2S1  |  DISEASES
5460  |  POU5F1  |  DISEASES
5687  |  PSMA6  |  DISEASES
10664  |  CTCF  |  DISEASES
84162  |  KIAA1109  |  DISEASES
118  |  ADD1  |  DISEASES
683  |  BST1  |  DISEASES
1390  |  CREM  |  DISEASES
11059  |  WWP1  |  DISEASES
89869  |  PLCZ1  |  DISEASES
91947  |  ARRDC4  |  DISEASES
2796  |  GNRH1  |  DISEASES
2697  |  GJA1  |  DISEASES
9453  |  GGPS1  |  DISEASES
5205  |  ATP8B1  |  DISEASES
181  |  AGRP  |  DISEASES
1584  |  CYP11B1  |  DISEASES
3973  |  LHCGR  |  DISEASES
3625  |  INHBB  |  DISEASES
3015  |  H2AFZ  |  DISEASES
552  |  AVPR1A  |  DISEASES
3094  |  HINT1  |  DISEASES
200558  |  APLF  |  DISEASES
27289  |  RND1  |  DISEASES
83985  |  SPNS1  |  DISEASES
5619  |  PRM1  |  DISEASES
55929  |  DMAP1  |  DISEASES
1831  |  TSC22D3  |  DISEASES
10859  |  LILRB1  |  DISEASES
11284  |  PNKP  |  DISEASES
5518  |  PPP2R1A  |  DISEASES
84875  |  PARP10  |  DISEASES
5178  |  PEG3  |  DISEASES
1789  |  DNMT3B  |  DISEASES
8905  |  AP1S2  |  DISEASES
51547  |  SIRT7  |  DISEASES
5069  |  PAPPA  |  DISEASES
51548  |  SIRT6  |  DISEASES
3805  |  KIR2DL4  |  DISEASES
8788  |  DLK1  |  DISEASES
2701  |  GJA4  |  DISEASES
4734  |  NEDD4  |  DISEASES
5325  |  PLAGL1  |  DISEASES
419  |  ART3  |  DISEASES
11060  |  WWP2  |  DISEASES
2224  |  FDPS  |  DISEASES
51592  |  TRIM33  |  DISEASES
4477  |  MSMB  |  DISEASES
1786  |  DNMT1  |  DISEASES
9464  |  HAND2  |  DISEASES
116969  |  ART5  |  DISEASES
3135  |  HLA-G  |  DISEASES
4860  |  PNP  |  DISEASES
2705  |  GJB1  |  DISEASES
23038  |  WDTC1  |  DISEASES
142  |  PARP1  |  DISEASES
6648  |  SOD2  |  DISEASES
1118  |  CHIT1  |  DISEASES
10628  |  TXNIP  |  DISEASES
5016  |  OVGP1  |  DISEASES
92714  |  ARRDC1  |  DISEASES
5631  |  PRPS1  |  DISEASES
5456  |  POU3F4  |  DISEASES
54897  |  CASZ1  |  DISEASES
7403  |  KDM6A  |  DISEASES
23408  |  SIRT5  |  DISEASES
54840  |  APTX  |  DISEASES
1646  |  AKR1C2  |  DISEASES
427  |  ASAH1  |  DISEASES
23410  |  SIRT3  |  DISEASES
11202  |  KLK8  |  DISEASES
2596  |  GAP43  |  DISEASES
1781  |  DYNC1I2  |  DISEASES
84461  |  NEURL4  |  DISEASES
23327  |  NEDD4L  |  DISEASES
2492  |  FSHR  |  DISEASES
6295  |  SAG  |  DISEASES
3481  |  IGF2  |  DISEASES
408  |  ARRB1  |  DISEASES
1028  |  CDKN1C  |  DISEASES
54625  |  PARP14  |  DISEASES
9555  |  H2AFY  |  DISEASES
221823  |  PRPS1L1  |  DISEASES
9788  |  MTSS1  |  DISEASES
5027  |  P2RX7  |  DISEASES
199713  |  NLRP7  |  DISEASES
10984  |  KCNQ1OT1  |  DISEASES
Locus(Waiting for update.)
Disease ID 1175
Disease arts syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:1)
Disease ID 1175
Disease arts syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining 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
rs398122855NA5631PRPS1umls:C0796028CLINVARNA0.480814326NAPRPS1X107642384GC
rs80338675NA5631PRPS1umls:C0796028CLINVARNA0.480814326NAPRPS1X107640993AC
rs80338676NA5631PRPS1umls:C0796028CLINVARNA0.480814326NAPRPS1X107642415TC
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)