111
|
|
|
RAB3 GTPase activating protein catalytic subunit 1 |
MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1 |
Abnormal dermatoglyphic pattern, Acquired kyphoscoliosis, Agenesis of corpus callosum, Brachycephaly, Cataract, Cataract-intellectual disability-hypogonadism syndrome, Central visual impairment, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Congenital cataract, Congenital hypoplasia of penis, Congenital kyphoscoliosis, Cryptorchidism, Developmental delay, Diabetes mellitus, Dwarfism, Dysmorphic features, Fundus coloboma, High palate, Hydronephrosis, Hypogonadotropic hypogonadism, Hypoplasia of corpus callosum, Mental retardation, Leukemia, Spastic diplegia, Macrotia, Martsolf syndrome, Micro syndrome, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Multiple congenital anomalies, Nervous system diseases, Optic atrophy, Osteoporosis, Pachygyria, Ptosis, Retinal coloboma, Scoliosis, Warburg micro syndromeView all (27 more) |
112
|
|
|
RAB18, member RAS oncogene family |
RAB18LI1, WARBM3 |
Acquired kyphoscoliosis, Blepharophimosis, Brachycephaly, Camptodactyly of fingers, Cataract, Central visual impairment, Cerebral cortical atrophy, Congenital hypoplasia of penis, Congenital kyphoscoliosis, Cryptorchidism, Developmental delay, Dwarfism, Fundus coloboma, High palate, Hydronephrosis, Hypertrichosis, Hypoplasia of corpus callosum, Mental retardation, Macrotia, Micro syndrome, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Nervous system diseases, Nystagmus, Optic atrophy, Pachygyria, Penis agenesis, Polymicrogyria, Retinal coloboma, Scoliosis, Spastic quadriplegia, Warburg micro syndromeView all (19 more) |
113
|
|
|
Ribose 5-phosphate isomerase A |
RPI, RPIAD |
|
114
|
|
|
Regulating synaptic membrane exocytosis 1 |
CORD7, RAB3IP2, RIM, RIM1 |
|
115
|
|
|
RAB21, member RAS oncogene family |
- |
|
116
|
|
|
Ribosomal RNA processing 1B |
KIAA0179, NNP1L, Nnp1, PPP1R136, RRP1 |
|
117
|
|
|
RTF1 homolog, Paf1/RNA polymerase II complex component |
GTL7, KIAA0252 |
|
118
|
|
|
Ral guanine nucleotide dissociation stimulator like 1 |
RGL |
|
119
|
|
|
REST corepressor 1 |
COREST, RCOR |
|
120
|
|
|
Regulator of ribosome synthesis 1 |
- |
|