|
741
|
|
|
ALG12 alpha-1,6-mannosyltransferase |
CDG1G, ECM39, PP14673, hALG12 |
Congenital clubfoot, Congenital disorder of glycosylation, Short femur, Congenital hypoplasia of radius, Cryptorchidism, Developmental delay, Hearing loss, Hypospadias, Impaired cognition, Patent ductus arteriosus, Patent foramen ovale, Penis agenesis, Retinal detachment, Rhizomelia |
|
742
|
|
|
Aldehyde dehydrogenase 5 family member A1 |
SSADH, SSDH |
Anxiety disorder, Autism, Brain diseases, Central nervous system metabolic disorders, Crohn disease, Developmental delay, Dystonia, Focal dystonia, Hallucinations, Mental retardation, Metabolic disorder, central nervous system, Motor delay, Movement disorders, Myoclonic seizures, Nervous system acquired metabolic diseases, Psychosis, Pycnodysostosis, Seizure, Status epilepticus, Succinic semialdehyde dehydrogenase deficiency, Writer`s crampView all (6 more) |
|
743
|
|
|
Abhydrolase domain containing 16A, phospholipase |
BAT5, D6S82E, NG26, PP199, SPG86, hBAT5 |
|
|
744
|
|
|
ATPase 13A3 |
AFURS1, PPH5 |
|
|
745
|
|
|
Abhydrolase domain containing 8 |
- |
|
|
746
|
|
|
Armadillo like helical domain containing 3 |
C10orf76, DGARM |
|
|
747
|
|
|
Adiponectin receptor 2 |
ACDCR2, PAQR2 |
|
|
748
|
|
|
Aminoacyl tRNA synthetase complex interacting multifunctional protein 2 |
HLD17, JTV-1, JTV1, P38 |
Acquired kyphoscoliosis, Cerebellar atrophy, Cerebral atrophy, Congenital kyphoscoliosis, Dwarfism, Epileptic encephalopathy, Hypomyelinating leukodystrophy, Hypoplasia of corpus callosum, Leukodystrophy, Malocclusion, Microcephaly, West syndrome |
|
749
|
|
|
Rho GTPase activating protein 10 |
GRAF2, PS-GAP, PSGAP |
|
|
750
|
|
|
Alpha and gamma adaptin binding protein |
KPPP1, PPKP1, PPKP1A, p34 |
Breast carcinoma, Cardiovascular diseases, Colonic neoplasms, Hodgkin disease, Keratosis palmoplantaris papulosa, Meleda disease, Palmoplantar keratoderma, Pancreatic neoplasm, Punctate keratosis, Punctate palmoplantar hyperkeratosis, Punctate palmoplantar keratoderma, Renal carcinoma, Bladder carcinoma |
