Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
F-box and leucine-rich repeat protein 4
FBXL4 (6q16.1-q16.2)


* Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (17.43)
F-box protein 38
FBXO38 (5q32)


* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.28)
Family with sequence similarity 111 member B
FAM111B (11q12.1)


* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (17.37)
Family with sequence similarity 134 member B
RETREG1 (5p15.1)


* Hereditary sensory neuropathy, type IIB - HSAN2B (14.106)
Fast Kinase Domains 2
FASTKD2 (2q33.3)


* Combined oxidative phosphorylation deficiency 44 - COXPD44 (17.45)
Fat tumor suppressor, Drosophila, Homologh of, 2
FAT2 (5q33.1)


* Spinocerebellar ataxia 45 - SCA45 (13.41)
Fatty acid 2-hydroxylase
FA2H (16q21-q23.1)


* Spastic paraplegia 35, autosomal recessive - SPG35 (15.41)
* Dysmyelinating leukodystrophy - FAHN (15.41)
Feline leukemia subgroup C receptor 1
FLVCR1 (1q32.3)


* Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.119)
Ferredoxin(M)
FDX2 (19p13.2)


* Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.30)
Fibroblast growth factor 14
FGF14 (13q34)


* Spinocerebellar ataxia 27 - SCA27 (13.24)
Fibulin 5 (extra-cellular matrix)
FBLN5 (14q32.12)


* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.9)
FIC domain-containing protein adenylyltransferase
FICD (12q23.3)


* Spastic paraplegia 92, autosomal recessive - SPG92 (15.81)
Filamin A-interacting protein 1
FILIP1 (6q14.1)


* Neuromuscular disorder, congenital, with dysmorphic facies - NMDF (5.17)
Filamin A, alpha (actin binding protein 280)
FLNA (Xq28)


* Myxomatous valvular dystrophy, X-ninked - XMVD (10.114)
* cardiac valvular dysplasia, x-linked - CVD1 (10.114)
Filamin C, gamma (actin-binding protein - 280)
FLNC (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)
flavin adenine dinucleotide synthetase, homolog(M)
FLAD1 (1q21.3)


* Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.34)
FLII actin remodeling protein
FLII (17p11.2)


* Dilated cardiomyopathy, 2H - CMD2H (10.89)
FMR1 autosomal homolog
FXR1 (3q26.33)


* Congenital myopathy 9A - CMYP9A (3.49, 3.50)
* Congenital myopathy 9B, proximal with minicore - CMYP9B (3.49, 3.50)
Formin homology-2 domain-containing protein 3
FHOD3 (18q12.2)


* Hypertrophic cardiomyopathy, 28 - CMH28 (10.30)
Four and a half LIM domain 1
FHL1 (Xq26.3)


* Rigid spine syndrome related to FHL1 - RSS (1.7, 5.33, 5.34, 5.35)
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.7, 5.33, 5.34, 5.35)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.7, 5.33, 5.34, 5.35)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.7, 5.33, 5.34, 5.35)
* Myopathy, reducing body, X-linked, severe early-onset - (1.7, 5.33, 5.34, 5.35)
* Myopathy, reducing body, X-linked, childhood-onset - (1.7, 5.33, 5.34, 5.35)
* Rigid spine syndrome - RSMD1 (1.7, 5.33, 5.34, 5.35)
Frataxin(M)
FXN (9q13-q21.1)


* Friedreich ataxia - FRDA (13.57)
* Friedreich ataxia with retained reflexes - FARR (13.57)
Fukutin
FKTN (9q31-q33)


* Walker-Warburg syndrome - WWS (1.46, 2.22, 2.36, 10.61)
* fukuyama congenital muscular dystrophy - FCMD (1.46, 2.22, 2.36, 10.61)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.46, 2.22, 2.36, 10.61)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.46, 2.22, 2.36, 10.61)
* Cardiomyopathy, dilated, 1X - CMD1X (1.46, 2.22, 2.36, 10.61)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.46, 2.22, 2.36, 10.61)
Fukutin-related protein
FKRP (19q13.32)


* Walker-Warburg syndrome - WWS (1.47, 2.23, 2.37)
* Muscle-eye-brain disease - MEB (1.47, 2.23, 2.37)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.47, 2.23, 2.37)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.47, 2.23, 2.37)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.47, 2.23, 2.37)
Fusion (involved in t(12;16) in malignant liposarcoma)
FUS (16q12)


* Amyotrophic lateral sclerosis - ALS6 (12.59)