741
|
|
|
Peroxisomal biogenesis factor 10 |
NALD, PBD6A, PBD6B, RNF69 |
Curated: Autosomal recessive ataxia, Glomerulonephritis, Pericarditis, Peroxisome biogenesis disorder, Spastic ataxia, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Asthenozoospermia, Ataxia, Azoospermia, Cardiomyopathy, Cataract, Cerebellar Ataxia, Cerebellar atrophy, Colpocephaly, Congenital Epicanthus, Cryptorchidism, Developmental Delay, Developmental regression, Diabetes Mellitus, Dolichocephaly, Down syndrome, Dwarfism, Dysarthria, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Hypotonia, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Liver failure, Macrocephaly, Malabsorption Syndrome, Male infertility, Malformation of cortical development, Malnutrition, Mental retardation, Microcephaly, Micrognathism, Multicystic renal dysplasia, Non-obstructive azoospermia, Nonobstructive azoospermia, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Pachygyria, Peroxisomal disorder, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Ptosis, Refsum Disease, Renal cyst, Retinal Dystrophy, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
|
742
|
|
|
Peroxisomal biogenesis factor 11 alpha |
PEX11-ALPHA, PEX11alpha, PMP28, hsPEX11p |
Curated: Dyslipidemias, Obesity, Peroxisome biogenesis disorder
Unreviewed: Breast neoplasm, Squamous cell carcinoma, Zellweger Syndrome
|
743
|
|
|
Peroxisomal biogenesis factor 11 beta |
PEX11-BETA, PEX11beta, PEX14B |
Curated: Congenital cataract, Peroxisome biogenesis disorder, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Cardiomyopathy, Cataract, Congenital Cataract, Congenital Epicanthus, Cryptorchidism, Developmental Delay, Developmental disability, Developmental regression, Distal myopathy, Dolichocephaly, Dry eye syndrome, Dwarfism, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Intellectual developmental disorder, Ischemic stroke, Liver failure, Lymphoma, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Mental retardation, Microcephaly, Micrognathism, Migraine, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Peripheral Neuropathy, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Ptosis, Pulmonary arterial hypertension, Refsum Disease, Rod-cone dystrophy, Skeletal Dysplasia, Sleep Apnea, Strabismus, Testicular Hydrocele, Ventricular septal defect, Zellweger Syndrome
|
744
|
|
|
Peroxisomal biogenesis factor 11 gamma |
PEX11gamma |
Curated: Peroxisome biogenesis disorder
Unreviewed: N/A
|
745
|
|
|
Peroxisomal biogenesis factor 12 |
PAF-3, PBD3A |
Curated: Peroxisome biogenesis disorder, Zellweger spectrum disorder
Unreviewed: 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, Polycystic kidney disease, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Ptosis, Refsum Disease, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
|
746
|
|
|
Peroxisomal biogenesis factor 12 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
747
|
|
|
Peroxisomal biogenesis factor 13 |
NALD, PBD11A, PBD11B, ZWS |
Curated: Erectile dysfunction, Peroxisome biogenesis disorder, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Adrenomyeloneuropathy, Brain disease, 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, Intellectual developmental disorder, Lissencephaly, Liver failure, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Mitochondrial disease, Multicystic renal dysplasia, Multiple renal cysts, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Renal cyst, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Timothy Syndrome, Tourette Syndrome, Tricuspid Valve Stenosis, Tuberous Sclerosis, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
|
748
|
|
|
Peroxisomal biogenesis factor 14 |
NAPP2, PBD13A, Pex14p, dJ734G22.2 |
Curated: Alzheimer disease, Androgenetic alopecia, Asthma, Breast cancer, Diverticular disease, Estrogen-receptor negative breast cancer, Ovarian cysts, Peroxisome biogenesis disorder, Prostate cancer, Respiratory system disease, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Alopecia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, Cataract, Colorectal neoplasm, Congenital Epicanthus, Corneal dystrophy, Corpus Luteum Cyst, Cryptorchidism, Developmental Delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Glioma, 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, Neoplasms, Neuroblastoma, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Ovarian Cysts, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Respiratory Tract Diseases, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
|
749
|
|
|
Peroxisomal biogenesis factor 16 |
PBD8A, PBD8B |
Curated: Autosomal recessive ataxia, Insomnia, Methylmalonic acidemia, Peroxisome biogenesis disorder, Synovitis, acne, pustulosis, hyperostosis, and osteitis, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Arthritis, Atrophy Of Corpus Callosum, Cardiomyopathy, Cataract, Choroid plexus papilloma, Colorectal neoplasm, Congenital Epicanthus, Cryptorchidism, Developmental Delay, Developmental regression, Diabetes Mellitus, Dolichocephaly, Dwarfism, Dysarthria, Dysphagia, Facial paralysis, Fatigue syndrome, Gangliosidosis, Glaucoma, Glossoptosis, Hearing Loss, Hereditary spastic paraplegia, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Hypotonia, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Leukodystrophy, Liver failure, Macrocephaly, Major depressive disorder, Malabsorption Syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Peroxisomal disorder, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Retinal Dystrophy, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
|
750
|
|
|
Peroxisomal biogenesis factor 19 |
D1S2223E, HK33, PBD12A, PMP1, PMPI, PXF, PXMP1 |
Curated: Peroxisome biogenesis disorder, Zellweger spectrum disorder
Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Angle Closure Glaucoma, Atrial Septal Defect, Breast neoplasm, Cardiomyopathy, Cataract, Central Nervous System Demyelination, Cerebral Atrophy, Cholelithiasis, Congenital Epicanthus, Cryptorchidism, Developmental Delay, Developmental regression, Dolichocephaly, Double Outlet Right Ventricle, Dwarfism, Exfoliation Syndrome, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hypertrophy Of Clitoris, Hypospadias, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Liver failure, Lung carcinoma, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Mental Depression, Microcephaly, Micrognathism, Multicystic renal dysplasia, Neoplasms, Nyctalopia, Nystagmus, Ocular Hypertension, Optic Atrophy, Osteochondrodysplasia, Patent ductus arteriosus, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Renal Tubular Disorder, Rod-cone dystrophy, Scaphocephaly, Schizophrenia, Skeletal Dysplasia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome
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