Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
F-box and leucine-rich repeat protein 4 | | * Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.57)
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F-box protein 38 | | * Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.29)
| Family with sequence similarity 111 member B | | * Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.64)
| Family with sequence similarity 134 member B | | * Hereditary sensory neuropathy, type IIB - HSAN2B (14.110)
| Fast Kinase Domains 2 | | * Combined oxidative phosphorylation deficiency 44 - COXPD44 (16.67)
| Fat tumor suppressor, Drosophila, Homologh of, 2 | | * Spinocerebellar ataxia 45 - SCA45 (13.42)
| Fatty acid 2-hydroxylase | | * Spastic paraplegia 35, autosomal recessive - SPG35 (15.44) * Dysmyelinating leukodystrophy - FAHN (15.44)
| Feline leukemia subgroup C receptor 1 | | * Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.122)
| Ferredoxin(M) | | * Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.80)
| Fibroblast growth factor 14 | | * Spinocerebellar ataxia 27A - SCA27 (13.24, 13.25) * Spinocerebellar ataxia 27B, late onset - SCA27 (13.24, 13.25)
| Fibulin 5 (extra-cellular matrix) | | * Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.12)
| Filamin A-interacting protein 1 | | * Myofibrillar myopathy related to FILIP1 - (5.17)
| Filamin A, alpha (actin binding protein 280) | | * Myxomatous valvular dystrophy, X-ninked - XMVD (10.114) * cardiac valvular dysplasia, x-linked - CVD1 (10.114)
| Filamin C, gamma (actin-binding protein - 280) | | * Myopathy, myofibrillar, filamin C-related - MFM5 (4.8, 5.6, 10.100, 10.28) * Myopathy, distal, 4 - MPD4 (4.8, 5.6, 10.100, 10.28) * Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.8, 5.6, 10.100, 10.28)
| flavin adenine dinucleotide synthetase, homolog(M) | | * Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
| FMR1 autosomal homolog | | * Congenital myopathy 9A - CMYP9A (3.35, 3.36) * Congenital myopathy 9B, proximal with minicore - CMYP9B (3.35, 3.36)
| Formin homology-2 domain-containing protein 3 | | * Hypertrophic cardiomyopathy, 28 - CMH28 (10.30)
| Four and a half LIM domain 1 | | * Rigid spine syndrome related to FHL1 - RSS (1.7, 5.31, 5.32, 5.33) * Scapuloperoneal myopathy, X-linked dominant - SPM (1.7, 5.31, 5.32, 5.33) * Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.7, 5.31, 5.32, 5.33) * X-linked myopathy with postural muscle atrophy - XMPMA (1.7, 5.31, 5.32, 5.33) * Myopathy, reducing body, X-linked, severe early-onset - (1.7, 5.31, 5.32, 5.33) * Myopathy, reducing body, X-linked, childhood-onset - (1.7, 5.31, 5.32, 5.33) * Rigid spine syndrome - RSMD1 (1.7, 5.31, 5.32, 5.33)
| Frataxin(M) | | * Friedreich ataxia - FRDA (13.57) * Friedreich ataxia with retained reflexes - FARR (13.57)
| Fukutin | | * Walker-Warburg syndrome - WWS (2.21, 2.35, 10.62) * fukuyama congenital muscular dystrophy - FCMD (2.21, 2.35, 10.62, 10.62) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (2.21, 2.35, 10.62, 10.62) * Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (2.21, 2.35, 10.62, 10.62) * Cardiomyopathy, dilated, 1X - CMD1X (2.21, 2.35, 10.62, 10.62) * Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (2.21, 2.35, 10.62, 10.62)
| Fukutin-related protein | | * Walker-Warburg syndrome - WWS (1.50, 2.22, 2.36) * Muscle-eye-brain disease - MEB (1.50, 2.22, 2.36) * Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.50, 2.22, 2.36) * Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.50, 2.22, 2.36) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.50, 2.22, 2.36)
| Fusion (involved in t(12;16) in malignant liposarcoma) | | * Amyotrophic lateral sclerosis - ALS6 (12.57)
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