Debug Stats | ### Total Build Time: 44 ms 41.053 KB CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 347 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 260 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=5 ms Completed: 5 ms rowSize= 1,019 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.851 KBCONCEPT_RELATIONSHIPS gt=23 ms Completed: 23 ms rowSize= 13.139 KBCONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 22.063 KBCONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.142 KBCONCEPT_ANCILLARY gt=0 Completed: 0 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 | Blisters originating in basal cells above hemidesmosomes Blistering, generalized, neonatal onset Skin fragility with non-scarring blistering Blistering of mucous membranes Small hemorrhagic blisters on hands Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes | Human | MMP1 | 4312 | matrix metallopeptidase 1 (interstitial collagenase) | Constipation caused by anal blisters Bullae on hands, feet, elbows, knees, mucosal surfaces, conjunctiva and cornea | 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 | Neonatal blisters and erosions Erythema, blisters, pustules (cyclical, explosive episodes) | Human | KRT5 | 3852 | keratin 5 | Onset in childhood of blistering and pigmentary changes Blistering at acral sites | 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 | Constipation caused by anal blisters Red atrophic scarring after recurrent blisters Bullae on hands, feet, elbows, knees, mucosal surfaces, conjunctiva and cornea Dorsal extremity blistering |
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