|
431
|
|
|
Peroxisomal biogenesis factor 6 |
HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1 |
Acanthosis nigricans, Addison`s disease, Adrenoleukodystrophy, Amyotrophy, Spinocerebellar ataxia, Cardiomyopathy, Cataract, Cerebellar ataxia, Congenital epicanthus, Conjunctival telangiectasis, Contracture of hamstring, Cryptorchidism, Deafness enamel hypoplasia nail defects, Developmental delay, Developmental regression, Diabetes mellitus, Dolichocephaly, Dwarfism, Dysmorphic features, Facial paralysis, Glaucoma, Hearing loss, Heimler syndrome, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypocalcification of dental enamel, Hypogonadism, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Mental retardation, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Microphthalmos, Microtia, Multicystic renal dysplasia, Hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Osteopenia, Zellweger syndrome, Physiologic amenorrhea, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum disease, Renal cyst, Respiratory failure, Retinal dystrophy, Rod-cone dystrophy, Scoliosis, Sensorimotor neuropathy, Sensory neuropathy, Skeletal dysplasia, Spinocerebellar ataxia-blindness-deafness syndrome, Strabismus, Taurodontism, Thoracolumbar scoliosis, Ureterocele, Ventricular septal defect, Zellweger-like syndromeView all (54 more) |
|
432
|
|
|
Peroxisomal biogenesis factor 7 |
PBD9B, PTS2R, RCDP1, RD |
Acquired kyphoscoliosis, Alopecia, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Chondrodysplasia punctata, Congenital kyphoscoliosis, Congestive heart failure, Developmental regression, Disorder of eye, Dwarfism, Frontal bossing, Hearing loss, Heart block, Hemiplegia/hemiparesis, Ichthyosis, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miosis disorder, Multiple epiphyseal dysplasia, Nail diseases, Nail dysplasia, Nervous system diseases, Nyctalopia, Nystagmus, Osteochondrodysplasia, Zellweger syndrome, Polyneuropathy, Ptosis, Refsum disease, Renal insufficiency, Retinal diseases, Rhizomelia, Rhizomelic chondrodysplasia punctata, Rod-cone dystrophy, Sensorimotor neuropathy, Skeletal dysplasiaView all (24 more) |
|
433
|
|
|
Peroxisomal biogenesis factor 10 |
NALD, PBD6A, PBD6B, RNF69 |
Addison`s disease, Adrenoleukodystrophy, Ataxia, Cardiomyopathy, Cataract, Cerebellar ataxia, Cerebellar atrophy, Colpocephaly, Congenital epicanthus, Cryptorchidism, Developmental delay, Developmental regression, Diabetes mellitus, Dolichocephaly, Dwarfism, Dysarthria, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Mental retardation, Microcephaly, Micrognathism, Multicystic renal dysplasia, Hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Pachygyria, Zellweger syndrome, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum disease, Renal cyst, Retinal dystrophy, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (37 more) |
|
434
|
|
|
Peroxisomal biogenesis factor 12 |
PAF-3, PBD3A |
Addison`s disease, Adrenoleukodystrophy, Cardiomyopathy, Cataract, Congenital epicanthus, Cryptorchidism, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypocholesterolemia, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Mental retardation, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Osteoporosis, Zellweger syndrome, Polycystic kidney disease, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Ptosis, Refsum disease, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (31 more) |
|
435
|
|
|
Peroxisomal biogenesis factor 13 |
NALD, PBD11A, PBD11B, ZWS |
Addison`s disease, Adrenoleukodystrophy, Adrenomyeloneuropathy, Cardiomyopathy, Cataract, Congenital epicanthus, Cryptorchidism, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Lissencephaly, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Multiple renal cysts, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Zellweger syndrome, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum disease, Renal cyst, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (30 more) |
|
436
|
|
|
Peroxisomal biogenesis factor 14 |
NAPP2, PBD13A, Pex14p, dJ734G22.2 |
Addison`s disease, Adrenoleukodystrophy, Alopecia, Asthma, Breast cancer, Breast carcinoma, Cardiomyopathy, Cataract, Congenital epicanthus, Corpus luteum cyst, Cryptorchidism, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Ovarian cysts, Zellweger syndrome, Polymicrogyria, Posterior embryotoxon, Prostate cancer, Ptosis, Refsum disease, Respiratory tract diseases, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (34 more) |
|
437
|
|
|
Platelet factor 4 |
CXCL4, PF-4, SCYB4 |
|
|
438
|
|
|
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
IPFK2, PFK2, iPFK-2 |
|
|
439
|
|
|
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
- |
|
|
440
|
|
|
Phosphofructokinase, liver type |
ATP-PFK, PFK-B, PFK-L |
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