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Entry Name Description Category Pathway Gene
H00544 Septo-optic dysplasia Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction. Congenital malformation HESX1 [HSA:8820] [KO:K09354]
SOX2 [HSA:6657] [KO:K16796]
SOX3 [HSA:6658] [KO:K09267]
OTX2 [HSA:5015] [KO:K18490]
H02170 Microphthalmia, syndromic Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... Congenital malformation (MCOPS1) NAA10 [HSA:8260] [KO:K20791]
(MCOPS2) BCOR [HSA:54880] [KO:K23215]
(MCOPS3) SOX2 [HSA:6657] [KO:K16796]
(MCOPS5) OTX2 [HSA:5015] [KO:K18490]
(MCOPS6) BMP4 [HSA:652] [KO:K04662]
(MCOPS7) HCCS [HSA:3052] [KO:K01764]
(MCOPS9) STRA6 [HSA:64220] [KO:K23088]
(MCOPS11) VAX1 [HSA:11023] [KO:K09318]
(MCOPS12) RARB [HSA:5915] [KO:K08528]
(MCOPS13) HMGB3 [HSA:3149] [KO:K11296]
(MCOPS14) MAB21L2 [HSA:10586]
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