|
12181
|
|
|
Non-SMC condensin I complex subunit D2 |
CAP-D2, CNAP1, MCPH21, hCAP-D2 |
|
|
12182
|
|
|
SEC16 homolog A, endoplasmic reticulum export factor |
KIAA0310, SEC16L, p250 |
|
|
12183
|
|
|
Kelch repeat and BTB domain containing 11 |
KLHDC7C |
|
|
12184
|
|
|
IQ motif and Sec7 domain ArfGEF 1 |
ARF-GEP100, ARFGEP100, BRAG2, GEP100, IDDSSBA |
|
|
12185
|
|
|
Zinc finger and BTB domain containing 40 |
ZNF923 |
|
|
12186
|
|
|
Poly(A) specific ribonuclease subunit PAN2 |
USP52 |
|
|
12187
|
|
|
Lysophosphatidylglycerol acyltransferase 1 |
FAM34A, FAM34A1, LPLAT7, NET8 |
|
|
12188
|
|
|
Mitofusin 2 |
CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL |
Axonal neuropathy, Charcot-marie-tooth disease, Dermatitis, Developmental delay, Diabetic nephropathy, Disorder of eye, Distal amyotrophy, Distal lower limb amyotrophy, Dysautonomia, Glomerulosclerosis, Hearing loss, Hereditary motor and sensory neuropathy, Hereditary motor and sensory neuropathy with optic atrophy, Hydrocephalus, Lipomatosis, Multiple lipomata, Multiple symmetric lipomatosis, Nail dystrophy, Nyctalopia, Optic atrophy, Partial paralysis vocal cords, Peripheral axonal atrophy, Peripheral axonal neuropathy, Restless legs syndrome, Saxonal neuropathy, Scoliosis, Spastic paraplegia, Vocal cord paralysisView all (13 more) |
|
12189
|
|
|
Kinesin family member 14 |
MCPH20, MKS12 |
Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Cerebellar hypoplasia, Developmental delay, Dwarfism, Hypoplasia of the optic nerve, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Liver carcinoma, Meckel syndrome, Mental retardation, Microcephaly, Microphthalmos, Neuronal heterotopia, Pachygyria, Renal agenesis, Renal aplasia, Renal hypoplasia, Strabismus, Vertical talus, Vesicoureteral refluxView all (6 more) |
|
12190
|
|
|
Pumilio RNA binding family member 3 |
HA-8, HLA-HA8, KIAA0020, PEN, PUF-A, PUF6, XTP5 |
|
