Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Albinism
Debug Stats
  • ### Total Build Time: 278 ms 46.997 KB
  • CONCEPT_NAME gt=9 ms Completed: 8 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 306 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=17 ms Completed: 17 ms rowSize= 1.845 KB
  • CONCEPT_CHILDREN gt=14 ms Completed: 14 ms rowSize= 1.392 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=44 ms Completed: 44 ms rowSize= 9.352 KB
  • CONCEPT_RELATIONSHIPS gt=146 ms Completed: 146 ms rowSize= 12.954 KB
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 19.446 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Albinism C0001916
6-A24-A26 ALBINISM
Definition (1)
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (4)
img Eye Diseases, Hereditary C0015398
img Amino Acid Metabolism, Inborn Errors C0002514
img Hypopigmentation C0162835
img Skin Diseases, Genetic C0037277
Children (3)
img Albinism, Oculocutaneous C0078918
img Albinism, Ocular C0078917
img Piebaldism C0080024
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Eye Diseases, Hereditary C00153983img Eye Diseases, Hereditary C0015398
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Eye Diseases, Hereditary C0015398
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Hypopigmentation C0162835
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (29)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 5
diso_​to_​diso : 17
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 13
isa : 9
mapped_​to : 3
may_​treat : 3
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_PHYS9img Pigmentation C0031911
DISO_to_ANAT7img Retina C0035298
DISO_to_CHEM7img MONOPHENOL MONOOXYGENASE C0041484
DISO_to_CHEM7img Monophenol Monooxygenase C0041484
DISO_to_ANAT6img Visual Pathways C0042829
DISO_to_ANAT5img Retina C0035298
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_DISO5img Immunologic Deficiency Syndromes C0021051
DISO_to_DISO5img Skin Neoplasms C0037286
DISO_to_PHYS5img Mutation C0026882
DISO_to_CHEMmay_treatimg 2,5,9-Trimethyl-7H-furo(3,2-g)benzopyran-7-one C0041086
DISO_to_CHEMmay_treatimg TRIOXSALEN 5 MG Oral (systemic) tablet C0690680
DISO_to_CHEMmay_treatimg Trioxsalen C0041086
DISO_to_DISOmapped_toimg ALBINISM-DEAFNESS SYNDROME C1845068
DISO_to_DISOmapped_toimg Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells C2931875
DISO_to_DISOisaimg Albinism, Ocular C0078917
DISO_to_DISOisaimg Albinism, Oculocutaneous C0078918
DISO_to_DISOmapped_toimg Albinism-Microcephaly digital anomalies syndrome C1859910
DISO_to_DISOisaimg Albinism-deafness syndrome of Tietz C1275110
DISO_to_DISOisaimg Albinoidism C0268506
DISO_to_DISOisaimg Chediak-Higashi-like syndrome C0398794
DISO_to_DISOuseimg Hermanski-Pudlak Syndrome C0079504
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanHPS489781Hermansky-Pudlak syndrome 4
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanHPS384343Hermansky-Pudlak syndrome 3
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanDTNBP184062dystrobrevin binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanHPS679803Hermansky-Pudlak syndrome 6
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanSLC45A251151solute carrier family 45, member 2
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanHPS511234Hermansky-Pudlak syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanABCC410257ATP-binding cassette, sub-family C (CFTR/MRP), member 4
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanTYRP17306tyrosinase-related protein 1
img OMIM, Score=790, UMLKSK CUI: C0001916
HumanTYR7299tyrosinase
img GENERIF, Score=827, Pubmed Id: 18296661, UMLKSK CUI: C0001916
img GENERIF, Score=861, Pubmed Id: 12727022, UMLKSK CUI: C0001916
img GENERIF, Score=1000, Pubmed Id: 15885985, UMLKSK CUI: C0001916
img GENERIF, Score=660, Pubmed Id: 15677452, UMLKSK CUI: C0001916
HumanSNAI26591snail family zinc finger 2
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanPAX35077paired box 3
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanOCA24948oculocutaneous albinism II
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanGPR1434935G protein-coupled receptor 143
img GENERIF, Score=861, Pubmed Id: 18798082, UMLKSK CUI: C0001916
HumanMITF4286microphthalmia-associated transcription factor
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanMC1R4157melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanKIT3815v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
INFERRED, Score=800, UMLKSK CUI: C0001916
HumanHPS13257Hermansky-Pudlak syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanEDNRB1910endothelin receptor type B
img OMIM, Score=1000, UMLKSK CUI: C0001916
HumanCACNA1F778calcium channel, voltage-dependent, L type, alpha 1F subunit
img OMIM, Score=833, UMLKSK CUI: C0001916
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0001916Albinism0self