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Entry Name Description Category Pathway Gene
H00937 Precocious puberty ... ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal ... Endocrine disease hsa04020 Calcium signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa04912 GnRH signaling pathway
(CEPREPU) KISS1R [HSA:84634] [KO:K08374]
(FMPP) LHCGR [HSA:3973] [KO:K04248]
H02044 Cutaneous and mucosal venous malformation
Mucocutaneous venous malformation
... characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial ... Congenital malformation hsa04151 PI3K-Akt signaling pathway
hsa04066 HIF-1 signaling pathway
TEK [HSA:7010] [KO:K05121]
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