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Details
Link-It Detail - Human Phenotype - Abnormality of circulating protein level
Debug Stats
  • ### Total Build Time: 30 ms 29.567 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 215 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 3.320 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 23.238 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.034 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of circulating protein level HP:0010876
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (10)
img Elevated alpha-fetoprotein HP:0006254
img Hypoproteinemia HP:0003075
img Hyperpepsinogenemia I HP:0003238
img Elevated C-reactive protein level HP:0011227
img Hyperproteinemia HP:0002152
img Abnormality of circulating enzyme level HP:0011021
img Abnormal albumin level HP:0012116
img Atransferrinemia HP:0012239
img Abnormality of the kinin-kallikrein system HP:0005559
img Hypoalbuminemia HP:0003073
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (167)

Species:
human : 167
Page Size
Current 25
  Page 1 of 7
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSMAJ101241900Spinal muscular atrophy, Jokela type
img HP RolledUp, OMIM ID: 615048
HumanLGMD1H100529230limb girdle muscular dystrophy 1H (autosomal dominant)
img HP RolledUp, OMIM ID: 613530
HumanMRT5100188831mental retardation, non-syndromic, autosomal recessive, 5
img HP RolledUp, OMIM ID: 611091
HumanMPD3780920Myopathy, distal 3
img HP RolledUp, OMIM ID: 610099
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanMHB619511myopathy, hyaline body, autosomal recessive
img HP RolledUp, OMIM ID: 255160
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
HumanLGMD1G553991limb girdle muscular dystrophy 1G (autosomal dominant)
img HP RolledUp, OMIM ID: 609115
HumanAGRN375790agrin
img HP RolledUp, OMIM ID: 254300
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 254300
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
img HP RolledUp, OMIM ID: 613319
HumanVMA21203547VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 310440
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
HumanB3GALNT2148789beta-1,3-N-acetylgalactosaminyltransferase 2
img HP RolledUp, OMIM ID: 615181
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanMGME192667mitochondrial genome maintenance exonuclease 1
img HP RolledUp, OMIM ID: 615084
HumanNLRP1291662NLR family, pyrin domain containing 12
img HP RolledUp, OMIM ID: 611762
HumanCOG884342component of oligomeric golgi complex 8
img HP RolledUp, OMIM ID: 611182
HumanMYH1479784myosin, heavy chain 14, non-muscle
img HP RolledUp, OMIM ID: 614369
HumanFKRP79147fukutin related protein
Click here to display 5 evidence detail records.
HumanDCLRE1C64421DNA cross-link repair 1C
img HP RolledUp, OMIM ID: 603554
HumanSIL164374SIL1 nucleotide exchange factor
img HP RolledUp, OMIM ID: 248800
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 600175
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img HP RolledUp, OMIM ID: 607426
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010876Abnormality of circulating protein level0self