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Details
Link-It Detail - Human Phenotype - Abnormal cardiological findings
Debug Stats
  • ### Total Build Time: 42 ms 30.010 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 206 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
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.087 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 25.768 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal cardiological findings HP:0003114
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (3)
img Abnormal EKG HP:0003115
img Focal necrosis of right ventricular muscle cells HP:0003338
img Abnormal echocardiogram HP:0003116
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (36)

Species:
human : 36
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanALG1084920ALG10, alpha-1,2-glucosyltransferase
img HP RolledUp, OMIM ID: 613688
img HP RolledUp, OMIM ID: 152427
HumanDCAF1780067DDB1 and CUL4 associated factor 17
img HP RolledUp, OMIM ID: 241080
HumanTMEM4379188transmembrane protein 43
img HP RolledUp, OMIM ID: 604400
HumanSCN3B55800sodium channel, voltage-gated, type III, beta subunit
img HP RolledUp, OMIM ID: 613120
HumanTRPM454795transient receptor potential cation channel, subfamily M, member 4
img HP RolledUp, OMIM ID: 604559
HumanPRKAG251422protein kinase, AMP-activated, gamma 2 non-catalytic subunit
img HP RolledUp, OMIM ID: 194200
img HP RolledUp, OMIM ID: 261740
HumanGPD1L23171glycerol-3-phosphate dehydrogenase 1-like
img HP RolledUp, OMIM ID: 611777
HumanAKAP910142A kinase (PRKA) anchor protein (yotiao) 9
img HP RolledUp, OMIM ID: 611820
HumanHCN410021hyperpolarization activated cyclic nucleotide-gated potassium channel 4
img HP RolledUp, OMIM ID: 613123
HumanKCNE310008potassium voltage-gated channel, Isk-related family, member 3
img HP RolledUp, OMIM ID: 613119
HumanKCNE29992potassium voltage-gated channel, Isk-related family, member 2
img HP RolledUp, OMIM ID: 613693
img HP RolledUp, OMIM ID: 603796
HumanHBN18184Progressive familial heart block, type I, locus 1
img HP RolledUp, OMIM ID: 604559
HumanCDKL56792cyclin-dependent kinase-like 5
img HP RolledUp, OMIM ID: 312750
HumanSNTA16640syntrophin, alpha 1
img HP RolledUp, OMIM ID: 612955
HumanSCN5A6331sodium channel, voltage-gated, type V, alpha subunit
img HP RolledUp, OMIM ID: 600163
img HP RolledUp, OMIM ID: 603830
img HP RolledUp, OMIM ID: 608567
HumanSCN4B6330sodium channel, voltage-gated, type IV, beta subunit
img HP RolledUp, OMIM ID: 611819
HumanSCN1B6324sodium channel, voltage-gated, type I, beta subunit
img HP RolledUp, OMIM ID: 612838
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img HP RolledUp, OMIM ID: 312750
HumanRPSA3921ribosomal protein SA
img HP RolledUp, OMIM ID: 604400
HumanKCNQ13784potassium voltage-gated channel, KQT-like subfamily, member 1
img HP RolledUp, OMIM ID: 192500
img HP RolledUp, OMIM ID: 220400
img HP RolledUp, OMIM ID: 609621
HumanKCNJ53762potassium inwardly-rectifying channel, subfamily J, member 5
img HP RolledUp, OMIM ID: 613485
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
img HP RolledUp, OMIM ID: 609622
HumanKCNH23757potassium voltage-gated channel, subfamily H (eag-related), member 2
img HP RolledUp, OMIM ID: 609620
img HP RolledUp, OMIM ID: 613688
img HP RolledUp, OMIM ID: 152427
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003114Abnormal cardiological findings0self