Debug Stats | ### Total Build Time: 88 ms 41.031 KB CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 347 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 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=1 ms Completed: 1 ms rowSize= 241 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1,019 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 2.851 KBCONCEPT_RELATIONSHIPS gt=54 ms Completed: 54 ms rowSize= 13.155 KBCONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 22.067 KBCONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.142 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
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Genes (16)
Species: human : 16 | |
Human | FLCN | 201163 | folliculin | Bullae are located randomly in familial cases and apical in sporadic cases | Human | TGM5 | 9333 | transglutaminase 5 | Blistering at junction of stratum granulosum and stratum corneum | Human | UROS | 7390 | uroporphyrinogen III synthase | | Human | PLEC | 5339 | plectin | Blistering of mucous membranes Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes Small hemorrhagic blisters on hands Blistering, generalized, neonatal onset Blisters originating in basal cells above hemidesmosomes Skin fragility with non-scarring blistering | Human | MMP1 | 4312 | matrix metallopeptidase 1 (interstitial collagenase) | Bullae on hands, feet, elbows, knees, mucosal surfaces, conjunctiva and cornea Constipation caused by anal blisters | Human | LAMC2 | 3918 | laminin, gamma 2 | Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) | Human | LAMB3 | 3914 | laminin, beta 3 | Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) | Human | LAMA3 | 3909 | laminin, alpha 3 | Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) | Human | KRT14 | 3861 | keratin 14 | Nonscarring blisters (hand, feet, forearms) | Human | KRT10 | 3858 | keratin 10 | Erythema, blisters, pustules (cyclical, explosive episodes) Neonatal blisters and erosions | Human | KRT5 | 3852 | keratin 5 | Blistering at acral sites Onset in childhood of blistering and pigmentary changes | Human | KRT1 | 3848 | keratin 1 | Neonatal blisters and erosions Erythema, blisters, pustules (cyclical, explosive episodes) | Human | ITGB4 | 3691 | integrin, beta 4 | Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) | Human | DSP | 1832 | desmoplakin | Fragility with blistering (neonatal onset) | Human | COL17A1 | 1308 | collagen, type XVII, alpha 1 | Non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence) | Human | COL7A1 | 1294 | collagen, type VII, alpha 1 | Red atrophic scarring after recurrent blisters Dorsal extremity blistering Bullae on hands, feet, elbows, knees, mucosal surfaces, conjunctiva and cornea Constipation caused by anal blisters |
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