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Details
Link-It Detail - Human Phenotype - Abnormal facial expression
Debug Stats
  • ### Total Build Time: 33 ms 27.551 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 201 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= 444 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.398 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 23.198 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal facial expression HP:0005346
Parents (1)
img Abnormality of the face HP:0000271
Children (4)
img Facial grimacing HP:0000273
img Decreased facial expression HP:0004673
img Disturbance of facial expression HP:0005324
img Sleepy facial expression HP:0005335
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the face HP:0000271
Genes (83)

Species:
human : 83
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanAUTS1100188832Autism, susceptibility to, 1
img HP RolledUp, OMIM ID: 209850
HumanPARK12677662Parkinson disease 12 (susceptibility)
img HP RolledUp, OMIM ID: 168600
HumanASPG2431711Asperger syndrome, susceptibility to, 2
img HP RolledUp, OMIM ID: 608631
HumanASPG1431710Asperger syndrome, susceptibility to, 1
img HP RolledUp, OMIM ID: 608638
HumanAUTS3387577Autism, susceptibility to, 3
img HP RolledUp, OMIM ID: 608049
HumanSCA25338435spinocerebellar ataxia 25
img HP RolledUp, OMIM ID: 608703
HumanAUTS8282553Autism, susceptibility to, 8
img HP RolledUp, OMIM ID: 607373
HumanPARK10170534Parkinson disease 10 (susceptibility)
img HP RolledUp, OMIM ID: 168600
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanPANK280025pantothenate kinase 2
img HP RolledUp, OMIM ID: 234200
HumanMTMR1464419myotubularin related protein 14
img HP RolledUp, OMIM ID: 160150
HumanSCZD1063944schizophrenia disorder 10 (periodic catatonia)
img HP RolledUp, OMIM ID: 605419
HumanHPSE260495heparanase 2
img HP TAS, OMIM ID: 236730
HumanNLGN4X57502neuroligin 4, X-linked
img HP RolledUp, OMIM ID: 300497
img HP RolledUp, OMIM ID: 300495
HumanCC2D1A54862coiled-coil and C2 domain containing 1A
img HP RolledUp, OMIM ID: 608443
HumanNLGN354413neuroligin 3
img HP RolledUp, OMIM ID: 300494
img HP RolledUp, OMIM ID: 300425
HumanFGF2026281fibroblast growth factor 20
img HP RolledUp, OMIM ID: 168600
HumanPNKD25953paroxysmal nonkinesigenic dyskinesia
img HP RolledUp, OMIM ID: 118800
HumanIBGC123706idiopathic basal ganglia calcification 1
img HP RolledUp, OMIM ID: 213600
HumanATP13A223400ATPase type 13A2
img HP RolledUp, OMIM ID: 606693
HumanTRIM3222954tripartite motif containing 32
img HP RolledUp, OMIM ID: 254110
HumanSNCAIP9627synuclein, alpha interacting protein
img HP RolledUp, OMIM ID: 168600
HumanNRXN19378neurexin 1
img HP RolledUp, OMIM ID: 209850
HumanDPM28818dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
img HP RolledUp, OMIM ID: 615042
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005346Abnormal facial expression0self