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 (16.56)
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F-box protein 38 | | * Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.20)
| Family with sequence similarity 111 member B | | * Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.63)
| Family with sequence similarity 134 member B | | * Hereditary sensory neuropathy, type IIB - HSAN2B (14.101)
| Fast Kinase Domains 2 | | * MELAS-like syndrome - (16.66)
| Fat tumor suppressor, Drosophila, Homologh of, 2 | | * Spinocerebellar ataxia 45 - SCA45 (13.41)
| Fatty acid 2-hydroxylase | | * Spastic paraplegia 35, autosomal recessive - SPG35 (15.40)
* Dysmyelinating leukodystrophy - FAHN (15.40)
| Feline leukemia subgroup C receptor 1 | | * Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.113)
| Ferredoxin(M) | | * Sensory motor axonal neuropathy and myopathy - (16.78)
| Fibroblast growth factor 14 | | * Spinocerebellar ataxia 27 - SCA27 (13.24)
| Fibulin 5 (extra-cellular matrix) | | * Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.11)
| Filamin A, alpha (actin binding protein 280) | | * Myxomatous valvular dystrophy, X-ninked - XMVD (10.102)
* cardiac valvular dysplasia, x-linked - CVD1 (10.102)
| Filamin C, gamma (actin-binding protein - 280) | | * Myopathy, myofibrillar, filamin C-related - MFM5 (4.18, 5.6, 10.27, 10.89)
* Myopathy, distal, 4 - MPD4 (4.18, 5.6, 10.27, 10.89)
* Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.18, 5.6, 10.27, 10.89)
| flavin adenine dinucleotide synthetase, homolog(M) | | * Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
| FMR1 autosomal homolog | | * Congenital multi-minicore myopathy - (3.59)
| Four and a half LIM domain 1 | | * Rigid spine syndrome related to FHL1 - RSS (1.3, 5.25, 5.26, 5.27)
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 5.25, 5.26, 5.27)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 5.25, 5.26, 5.27)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 5.25, 5.26, 5.27)
* Myopathy, reducing body, X-linked, severe early-onset - (1.3, 5.25, 5.26, 5.27)
* Myopathy, reducing body, X-linked, childhood-onset - (1.3, 5.25, 5.26, 5.27)
* Rigid spine syndrome - RSMD1 (1.3, 5.25, 5.26, 5.27)
| Frataxin(M) | | * Friedreich ataxia - FRDA (13.53)
* Friedreich ataxia with retained reflexes - FARR (13.53)
| Fukutin | | * Walker-Warburg syndrome - WWS (1.42, 2.18, 2.19, 10.59)
* fukuyama congenital muscular dystrophy - FCMD (1.42, 2.18, 2.19, 10.59)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.42, 2.18, 2.19, 10.59)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.42, 2.18, 2.19, 10.59)
* Cardiomyopathy, dilated, 1X - CMD1X (1.42, 2.18, 2.19, 10.59)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.42, 2.18, 2.19, 10.59)
| Fukutin-related protein | | * Walker-Warburg syndrome - WWS (1.38, 2.22, 2.28, 2.33) * Muscle-eye-brain disease - MEB (1.38, 2.22, 2.28, 2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.38, 2.22, 2.28, 2.33)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.38, 2.22, 2.28, 2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.38, 2.22, 2.28, 2.33)
| Fusion (involved in t(12;16) in malignant liposarcoma) | | * Amyotrophic lateral sclerosis - ALS6 (12.49)
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