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Details
Link-It Detail - Human Phenotype - Abnormality of the musculature of the hand
Debug Stats
  • ### Total Build Time: 41 ms 26.105 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 217 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=15 ms Completed: 15 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 796 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.420 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.937 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 16.579 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.036 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the musculature of the hand HP:0001421
Parents (2)
img Abnormality of the hand HP:0001155
img Abnormality of the musculature of the upper limbs HP:0001446
Children (7)
img Abnormality of the thenar eminence HP:0001227
img Hypotrophy of the small hand muscles HP:0006006
img Intrinsic hand muscle atrophy HP:0008954
img Weakness of long finger extensor muscles HP:0009077
img Weakness of the intrinsic hand muscles HP:0009005
img Abnormality of the hypothenar eminence HP:0010486
img Hand muscle atrophy HP:0009130
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the hand HP:0001155
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the hand HP:0001155
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the musculature of the upper limbs HP:0001446
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the musculature of the upper limbs HP:0001446
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the musculature of the upper limbs HP:0001446
Genes (22)

Species:
human : 22
SpeciesGeneGeneIdGene NameEvidence
HumanSPG38100049707spastic paraplegia 38 (autosomal dominant, Silver syndrome)
img HP RolledUp, OMIM ID: 612335
HumanDEL17Q21.31791085
img HP RolledUp, OMIM ID: 610443
HumanKANSL1284058KAT8 regulatory NSL complex subunit 1
img HP RolledUp, OMIM ID: 610443
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanSLC39A1391252solute carrier family 39 (zinc transporter), member 13
img HP RolledUp, OMIM ID: 612350
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img HP RolledUp, OMIM ID: 604360
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 606071
HumanALS257679amyotrophic lateral sclerosis 2 (juvenile)
img HP RolledUp, OMIM ID: 205100
HumanSALL457167sal-like 4 (Drosophila)
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img HP RolledUp, OMIM ID: 270685
img HP RolledUp, OMIM ID: 600794
HumanPLOD38985procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
img HP RolledUp, OMIM ID: 612394
HumanSTIM16786stromal interaction molecule 1
img HP RolledUp, OMIM ID: 160565
HumanRPL116135ribosomal protein L11
img HP RolledUp, OMIM ID: 612562
HumanNEFL4747neurofilament, light polypeptide
img HP RolledUp, OMIM ID: 607684
HumanMYH74625myosin, heavy chain 7, cardiac muscle, beta
img HP RolledUp, OMIM ID: 160500
HumanHOXA133209homeobox A13
HumanGARS2617glycyl-tRNA synthetase
img HP RolledUp, OMIM ID: 600794
img HP RolledUp, OMIM ID: 601472
HumanFGFR22263fibroblast growth factor receptor 2
HumanFGFR32261fibroblast growth factor receptor 3
HumanFGF102255fibroblast growth factor 10
HumanDCTN11639dynactin 1
img HP RolledUp, OMIM ID: 607641
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
img HP RolledUp, OMIM ID: 205400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001421Abnormality of the musculature of the hand0self