Debug Stats | ### Total Build Time: 38 ms 36.108 KB CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 334 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes- Skipping details on:
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CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytesCONCEPT_RELATIONSHIPS gt=26 ms Completed: 26 ms rowSize= 9.832 KBCONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 24.728 KBCONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.152 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
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Genes (25)
Species: human : 25 | |
Human | RSPO1 | 284654 | R-spondin 1 | Mutational analysis of the RSPO1 gene in a 46,XX woman with true hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment, is reported | Human | PORCN | 64840 | porcupine homolog (Drosophila) | Dystrophic nails (spooned, grooves) | Human | NOP10 | 55505 | NOP10 ribonucleoprotein | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | Human | TINF2 | 26277 | TERF1 (TRF1)-interacting nuclear factor 2 | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | | Human | TP63 | 8626 | tumor protein p63 | | Human | IKBKG | 8517 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | | Human | TERT | 7015 | telomerase reverse transcriptase | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | Human | TERC | 7012 | telomerase RNA component | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | Human | PLEC | 5339 | plectin | | Human | NTRK1 | 4914 | neurotrophic tyrosine kinase, receptor, type 1 | | Human | LAMC2 | 3918 | laminin, gamma 2 | Nail dystrophy (onset in childhood or adolescence) | Human | LAMB3 | 3914 | laminin, beta 3 | Nail dystrophy (onset in childhood or adolescence) | Human | LAMA3 | 3909 | laminin, alpha 3 | Nail dystrophy (onset in childhood or adolescence) | Human | KRT17 | 3872 | keratin 17 | | Human | KRT14 | 3861 | keratin 14 | | Human | KRT6B | 3854 | keratin 6B | | Human | KRT5 | 3852 | keratin 5 | | Human | ITGB4 | 3691 | integrin, beta 4 | Nail dystrophy (onset in childhood or adolescence) | Human | GJB2 | 2706 | gap junction protein, beta 2, 26kDa | | Human | FLNA | 2316 | filamin A, alpha | | Human | DSP | 1832 | desmoplakin | | Human | DKC1 | 1736 | dyskeratosis congenita 1, dyskerin | Median age of onset of nail dystrophy - 7 years (range 1-6 years) Nail dystrophy (92% mail patients) Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia | Human | COL17A1 | 1308 | collagen, type XVII, alpha 1 | Nail dystrophy (onset in childhood or adolescence) | Human | COL7A1 | 1294 | collagen, type VII, alpha 1 | |
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