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Details
Link-It Detail - Human Phenotype - Abnormality of keratinization
Debug Stats
  • ### Total Build Time: 32 ms 28.212 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 204 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= 444 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.989 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.159 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 23.099 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of keratinization HP:0001035
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the skin HP:0000951
Children (6)
img Porokeratosis HP:0200044
img Hyperkeratosis HP:0000962
img Ichthyosis HP:0000955
img Acrokeratosis HP:0200016
img Parakeratosis HP:0001036
img Generalized keratosis follicularis HP:0007439
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
Genes (151)

Species:
human : 151
Page Size
Current 25
  Page 1 of 7
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPPKP1B101154752Keratoderma, palmoplantar, punctate type IB
img HP RolledUp, OMIM ID: 614936
HumanPOROK7101101698Porokeratosis 7, disseminated superficial actinic
img HP RolledUp, OMIM ID: 614714
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanSCA34100750330spinocerebellar ataxia 34
img HP RolledUp, OMIM ID: 133190
HumanEDSS2100505394Ectodermal dysplasia-syndactyly syndrome 2
img HP RolledUp, OMIM ID: 613576
HumanDSAP4100196911Porokeratosis, disseminated superficial actinic, 4
img HP RolledUp, OMIM ID: 612353
HumanPPPD1100196910Porokeratosis, palmar, plantar, and disseminated 1
img HP RolledUp, OMIM ID: 175850
HumanAGSPX100188767Angio serpiginosum
img HP RolledUp, OMIM ID: 300652
HumanHLP100188397hyperkeratosis lenticularis perstans
img HP RolledUp, OMIM ID: 144150
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanEDS8791254Ehlers-Danlos syndrome, type VIII
img HP RolledUp, OMIM ID: 130080
HumanHPP1780897hyperpigmentation, progressive, 1
img HP RolledUp, OMIM ID: 145250
HumanLIPN643418lipase, family member N
img HP RolledUp, OMIM ID: 613943
HumanCDAGS574043Craniosynostosis, anal anomalies, and porokeratosis syndrome
img HP RolledUp, OMIM ID: 603116
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanNIPAL4348938NIPA-like domain containing 4
img HP RolledUp, OMIM ID: 612281
HumanPNPLA1285848patatin-like phospholipase domain containing 1
img HP RolledUp, OMIM ID: 615024
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanRSPO1284654R-spondin 1
img HP RolledUp, OMIM ID: 610644
HumanTRPV3162514transient receptor potential cation channel, subfamily V, member 3
img HP RolledUp, OMIM ID: 614594
HumanDSG4147409desmoglein 4
img HP RolledUp, OMIM ID: 607903
HumanLI5140560Lamellar ichthyosis 5
img HP RolledUp, OMIM ID: 606545
HumanGJB4127534gap junction protein, beta 4, 30.3kDa
img HP RolledUp, OMIM ID: 133200
HumanCYP4F22126410cytochrome P450, family 4, subfamily F, polypeptide 22
img HP RolledUp, OMIM ID: 604777
HumanATOD5117188Dermatitis, atopic, 5
img HP RolledUp, OMIM ID: 603165
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001035Abnormality of keratinization0self