| Debug Stats | [ From Cache ]### Total Build Time: 97 ms 41.070 KB CONCEPT_NAME gt=14 ms Completed: 14 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=0 Completed: 0 ms rowSize= 241 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,019 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.851 KBCONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 13.179 KBCONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.083 KBCONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.142 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
|
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, generalized, neonatal onset Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes Blistering of mucous membranes Small hemorrhagic blisters on hands Blisters originating in basal cells above hemidesmosomes Skin fragility with non-scarring blistering | | 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 | 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 | Bullae on hands, feet, elbows, knees, mucosal surfaces, conjunctiva and cornea Dorsal extremity blistering Constipation caused by anal blisters Red atrophic scarring after recurrent blisters |
|