Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   griscelli syndrome
  

Disease ID 1937
Disease griscelli syndrome
Definition
Griscelli syndrome is a rare autosomal recessive[1] disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. - Wikipedia
Reference: https://en.wikipedia.org/wiki/griscelli syndrome
Synonym
chediak-higashi-like syndrome
giscelli syndrome
griscelli syndrome with immunodeficiency
hypopigmentation-immunodeficiency disease
hypopigmentation-immunodeficiency disease (disorder)
partial albinism with immunodeficiency
UMLS
C0398794
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4644  |  MYO5A  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:66)
3267  |  AGFG1  |  2.307  |  DISEASES
226  |  ALDOA  |  1.784  |  DISEASES
8905  |  AP1S2  |  1.662  |  DISEASES
57412  |  AS3MT  |  2.567  |  DISEASES
9564  |  BCAR1  |  1.374  |  DISEASES
1121  |  CHM  |  1.333  |  DISEASES
1452  |  CSNK1A1  |  2.317  |  DISEASES
23644  |  EDC4  |  2.154  |  DISEASES
1993  |  ELAVL2  |  1.707  |  DISEASES
30816  |  ERVW-1  |  1.266  |  DISEASES
2224  |  FDPS  |  1.097  |  DISEASES
2268  |  FGR  |  1.567  |  DISEASES
2274  |  FHL2  |  2.616  |  DISEASES
23768  |  FLRT2  |  3.016  |  DISEASES
5348  |  FXYD1  |  1.47  |  DISEASES
53827  |  FXYD5  |  1.171  |  DISEASES
2550  |  GABBR1  |  1.951  |  DISEASES
2664  |  GDI1  |  2.381  |  DISEASES
2778  |  GNAS  |  1.39  |  DISEASES
10020  |  GNE  |  1.361  |  DISEASES
2813  |  GP2  |  1.372  |  DISEASES
63940  |  GPSM3  |  2.453  |  DISEASES
2938  |  GSTA1  |  1.356  |  DISEASES
23560  |  GTPBP4  |  1.236  |  DISEASES
10456  |  HAX1  |  1.467  |  DISEASES
3009  |  HIST1H1B  |  2.167  |  DISEASES
10265  |  IRX5  |  2.592  |  DISEASES
51350  |  KRT76  |  3.891  |  DISEASES
1130  |  LYST  |  4.498  |  DISEASES
4644  |  MYO5A  |  6.578  |  DISEASES
4647  |  MYO7A  |  1.344  |  DISEASES
114803  |  MYSM1  |  2.64  |  DISEASES
26151  |  NAT9  |  1.211  |  DISEASES
23218  |  NBEAL2  |  1.519  |  DISEASES
259197  |  NCR3  |  1.375  |  DISEASES
4905  |  NSF  |  1.392  |  DISEASES
4948  |  OCA2  |  1.186  |  DISEASES
4978  |  OPCML  |  2.124  |  DISEASES
5053  |  PAH  |  1.035  |  DISEASES
5828  |  PEX2  |  2.271  |  DISEASES
22931  |  RAB18  |  3.254  |  DISEASES
51715  |  RAB23  |  3.052  |  DISEASES
57111  |  RAB25  |  2.017  |  DISEASES
5873  |  RAB27A  |  7.519  |  DISEASES
9364  |  RAB28  |  3.932  |  DISEASES
326624  |  RAB37  |  3.799  |  DISEASES
5867  |  RAB4A  |  2.743  |  DISEASES
10171  |  RCL1  |  1.356  |  DISEASES
5996  |  RGS1  |  2.875  |  DISEASES
22895  |  RPH3A  |  3.684  |  DISEASES
6223  |  RPS19  |  1.153  |  DISEASES
6281  |  S100A10  |  1.562  |  DISEASES
4068  |  SH2D1A  |  3.037  |  DISEASES
6472  |  SHMT2  |  1.836  |  DISEASES
8676  |  STX11  |  3.47  |  DISEASES
6812  |  STXBP1  |  1.584  |  DISEASES
8801  |  SUCLG2  |  1.483  |  DISEASES
6818  |  SULT1A3  |  1.45  |  DISEASES
445329  |  SULT1A4  |  1.475  |  DISEASES
54843  |  SYTL2  |  4.754  |  DISEASES
94122  |  SYTL5  |  3.174  |  DISEASES
7114  |  TMSB4X  |  1.428  |  DISEASES
7306  |  TYRP1  |  1.876  |  DISEASES
10497  |  UNC13B  |  3.841  |  DISEASES
7409  |  VAV1  |  1.172  |  DISEASES
7546  |  ZIC2  |  1.791  |  DISEASES
Locus(Waiting for update.)
Disease ID 1937
Disease griscelli syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0100614  |  Muscle inflammation  |  1
HP:0002955  |  Granulomatosis  |  1
Disease ID 1937
Disease griscelli syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0027121  |  myositis
C0026986  |  myelodysplastic syndrome
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0027121  |  myositis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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 1937
Disease griscelli syndrome
Case(Waiting for update.)