|
791
|
|
|
ER membrane protein complex subunit 8 |
C16orf2, C16orf4, COX4NB, FAM158B, NOC4 |
|
|
792
|
|
|
Ribitol xylosyltransferase 1 |
HP10481, MDDGA10, TMEM5 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpha-dystroglycanopathy, Cataract, Cerebellar hypoplasia, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital hypoplasia of penis, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Fukuyama type congenital muscular dystrophy, Glaucoma, Gonadal dysgenesis, Hydrocephalus, Limb-girdle muscular dystrophy, Macrocephaly, Mental retardation, Microcephaly, Microcornea, Microphthalmos, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Optic atrophy, Pachygyria, Polymicrogyria, Posteriorly rotated ear, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Specific learning disorder, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (22 more) |
|
793
|
|
|
Cyclin dependent kinase inhibitor 3 |
CDI1, CIP2, KAP, KAP1 |
|
|
794
|
|
|
Canopy FGF signaling regulator 2 |
HP10390, MSAP, TMEM4, ZSIG9 |
|
|
795
|
|
|
C-type lectin domain family 4 member M |
CD209L, CD299, DC-SIGN2, DC-SIGNR, DCSIGNR, HP10347, L-SIGN, LSIGN |
|
|
796
|
|
|
Toll like receptor 6 |
CD286 |
|
|
797
|
|
|
Inositol 1,4,5-triphosphate receptor associated 1 |
IRAG, JAW1L, MRVI1 |
|
|
798
|
|
|
H2A clustered histone 5, pseudogene |
H2AFFP, HIST1H2APS5, pH2A/f |
|
|
799
|
|
|
Trafficking from ER to golgi regulator |
HMSNP, SPG57, TF6, TRKT3 |
Amyotrophy, Charcot-marie-tooth disease, Colorectal cancer, Distal lower limb amyotrophy, Extraskeletal myxoid chondrosarcoma, Hereditary motor and sensory neuropathy, Hyperlipidemia, Mental retardation, Nervous system diseases, Neuropathy, Optic atrophy, Papillary thyroid carcinoma, Polyneuropathy, Quadriplegia, Sensorimotor neuropathy, Sensory neuropathy, Spastic paraplegia, Thyroid carcinomaView all (3 more) |
|
800
|
|
|
Polycystin family receptor for egg jelly |
- |
|
