Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
FA2HFatty acid 2-hydroxylase | 16q21-q23.1 | * Spastic paraplegia 35, autosomal recessive - SPG35 (15.44) * Dysmyelinating leukodystrophy - FAHN (15.44)
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FAM111BFamily with sequence similarity 111 member B | 11q12.1 | * Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.64)
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FARS2Phenylalanine-tRNA synthetase 2(M) | 6p25.1 | * Spastic paraplegia 77, autosomal recessive - SPG77 (15.70)
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FASTKD2Fast Kinase Domains 2 | 2q33.3 | * Combined oxidative phosphorylation deficiency 44 - COXPD44 (16.67)
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FAT2Fat tumor suppressor, Drosophila, Homologh of, 2 | 5q33.1 | * Spinocerebellar ataxia 45 - SCA45 (13.42)
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FBLN5Fibulin 5 (extra-cellular matrix) | 14q32.12 | * Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.12)
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FBXL4F-box and leucine-rich repeat protein 4 | 6q16.1-q16.2 | * Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.57)
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| 5q32 | * Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.29)
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| 19p13.2 | * Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.80)
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FGD4Actin-filament binding protein Frabin | 12p11.21 | * Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.38)
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FGF14Fibroblast growth factor 14 | 13q34 | * Spinocerebellar ataxia 27A - SCA27 (13.24, 13.25) * Spinocerebellar ataxia 27B, late onset - SCA27 (13.24, 13.25)
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FHL1Four and a half LIM domain 1 | Xq26.3 | * 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, childhood-onset - (1.7, 5.31, 5.32, 5.33) * Rigid spine syndrome related to FHL1 - RSS (1.7, 5.31, 5.32, 5.33) * Myopathy, reducing body, X-linked, severe early-onset - (1.7, 5.31, 5.32, 5.33) * Rigid spine syndrome - RSMD1 (1.7, 5.31, 5.32, 5.33)
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FHOD3Formin homology-2 domain-containing protein 3 | 18q12.2 | * Hypertrophic cardiomyopathy, 28 - CMH28 (10.30)
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FIG4Sac domain-containing inositol phosphatase 3 | 6q21 | * charcot-marie-tooth disease, type 4j - CMT4J (12.62, 14.39) * Amyotrophic lateral sclerosis 11 - ALS11 (12.62, 14.39)
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FILIP1Filamin A-interacting protein 1 | 6q14.1 | * Myofibrillar myopathy related to FILIP1 - (5.17)
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FKRPFukutin-related protein | 19q13.32 | * 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 brain and eye anomalies), - MDDGA5 (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)
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| 9q31-q33 | * Walker-Warburg syndrome - WWS (2.21, 2.35, 10.62) * Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (2.21, 2.35, 10.62, 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) * Cardiomyopathy, dilated, 1X - CMD1X (2.21, 2.35, 10.62, 10.62) * Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (2.21, 2.35, 10.62, 10.62)
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FLAD1flavin adenine dinucleotide synthetase, homolog(M) | 1q21.3 | * Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
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FLNAFilamin A, alpha (actin binding protein 280) | Xq28 | * Myxomatous valvular dystrophy, X-ninked - XMVD (10.114) * cardiac valvular dysplasia, x-linked - CVD1 (10.114)
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FLNCFilamin C, gamma (actin-binding protein - 280) | 7q32 | * 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)
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FLVCR1Feline leukemia subgroup C receptor 1 | 1q32.3 | * Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.122)
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FUSFusion (involved in t(12;16) in malignant liposarcoma) | 16q12 | * Amyotrophic lateral sclerosis - ALS6 (12.57)
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| 9q13-q21.1 | * Friedreich ataxia - FRDA (13.57) * Friedreich ataxia with retained reflexes - FARR (13.57)
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FXR1FMR1 autosomal homolog | 3q26.33 | * Congenital myopathy 9A - CMYP9A (3.35, 3.36) * Congenital myopathy 9B, proximal with minicore - CMYP9B (3.35, 3.36)
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