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Details
Link-It Detail - Human Phenotype - Abnormality of the musculature of the neck
Debug Stats
  • ### Total Build Time: 23 ms 26.922 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 217 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 207 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=3 ms Completed: 3 ms rowSize= 777 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.076 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 3.023 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 20.469 KB
  • CONCEPT_XREFS gt=0 Completed: 0 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 neck HP:0011006
Definition (1)
An abnormality of the `neck musculature` (FMA:71290).
Parents (2)
img Abnormality of the neck HP:0000464
img Abnormality of the musculature HP:0003011
Children (3)
img Neck muscle weakness HP:0000467
img Congenital muscular torticollis HP:0005988
img Spasmodic torticollis HP:0000473
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the neck HP:0000464
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the musculature HP:0003011
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the musculature HP:0003011
Genes (51)

Species:
human : 51
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDYT17100216344dystonia 17
img HP RolledUp, OMIM ID: 612406
HumanLOC619409619409muscular dystrophy, congenital, merosin-positive
img HP RolledUp, OMIM ID: 609456
HumanPSNP2619408supranuclear palsy, progressive, 2
HumanGDF6392255growth differentiation factor 6
img HP RolledUp, OMIM ID: 118100
img HP RolledUp, OMIM ID: 148900
HumanKBTBD13390594kelch repeat and BTB (POZ) domain containing 13
img HP RolledUp, OMIM ID: 609273
HumanTGM6343641transglutaminase 6
img HP RolledUp, OMIM ID: 613908
HumanSLC52A3113278solute carrier family 52 (riboflavin transporter), member 3
img HP RolledUp, OMIM ID: 211530
HumanDYT1393983dystonia 13, torsion
img HP RolledUp, OMIM ID: 607671
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanTMEM4379188transmembrane protein 43
img HP RolledUp, OMIM ID: 614302
HumanCOLEC1178989collectin sub-family member 11
img HP RolledUp, OMIM ID: 265050
HumanANO363982anoctamin 3
img HP RolledUp, OMIM ID: 615034
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
HumanTHAP155145THAP domain containing, apoptosis associated protein 1
img HP RolledUp, OMIM ID: 602629
HumanPNKD25953paroxysmal nonkinesigenic dyskinesia
img HP RolledUp, OMIM ID: 118800
HumanSYNE123345spectrin repeat containing, nuclear envelope 1
img HP RolledUp, OMIM ID: 612998
HumanTRIM3222954tripartite motif containing 32
HumanTUBB4A10382tubulin, beta 4A class IVa
img HP RolledUp, OMIM ID: 128101
HumanMYOT9499myotilin
img HP RolledUp, OMIM ID: 182920
HumanSGCE8910sarcoglycan, epsilon
img HP RolledUp, OMIM ID: 159900
HumanPRKRA8575protein kinase, interferon-inducible double stranded RNA dependent activator
HumanPABPN18106poly(A) binding protein, nuclear 1
img HP RolledUp, OMIM ID: 164300
HumanSMAL8094spinal muscular atrophy, congenital nonprogressive, of lower limbs
HumanCNBP7555CCHC-type zinc finger, nucleic acid binding protein
HumanTTN7273titin
img HP RolledUp, OMIM ID: 603689
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011006Abnormality of the musculature of the neck0self