Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
F-box protein 38
FBXO38 (5q32)


* Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.18)
family with sequence similarity 111 member B
FAM111B (11q12.1)


* Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.33)
family with sequence similarity 134 member B
FAM134B (5p15.1)


* Hereditary sensory neuropathy, type IIB - HSAN2B (14.87)
Fast Kinase Domains 2
FASTKD2 (2q33.3)


* MELAS-like syndrome - (16.36)
Fatty acid 2-hydroxylase
FA2H (16q21-q23.1)


* Spastic paraplegia 35, autosomal recessive - SPG35 (15.36)
* Dysmyelinating leukodystrophy - FAHN (15.36)
Fibroblast growth factor 14
FGF14 (13q34)


* Spinocerebellar ataxia 27 - SCA27 (13.25)
Fibulin 5 (extra-cellular matrix)
FBLN5 (14q32.12)


* Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.10)
Filamin A, alpha (actin binding protein 280)
FLNA (Xq28)


* Myxomatous valvular dystrophy, X-ninked - XMVD (10.85)
* cardiac valvular dysplasia, x-linked - CVD1 (10.85)
Filamin C, gamma (actin-binding protein - 280)
FLNC (7q32)


* Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.8)
* Myopathy, distal, 4 - MPD4 (4.16, 5.8)
flavin adenine dinucleotide synthetase, homolog(M)
FLAD1 (1q21.3)


* Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
Four and a half LIM domain 1
FHL1 (Xq26.3)


* Rigid spine syndrome related to FHL1 - RSS (1.3, 2.14, 5.21, 5.22, 5.23)
* Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 2.14, 5.21, 5.22, 5.23)
* Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 2.14, 5.21, 5.22, 5.23)
* X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 2.14, 5.21, 5.22, 5.23)
* Myopathy, reducing body, X-linked, severe early-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
* Myopathy, reducing body, X-linked, childhood-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
* Rigid spine syndrome - RSMD1 (1.3, 2.14, 5.21, 5.22, 5.23)
Frataxin(M)
FXN (9q13-q21.1)


* Friedreich ataxia - FRDA (13.46)
* Friedreich ataxia with retained reflexes - FARR (13.46)
Fukutin
FKTN (9q31-q33)


* Walker-Warburg syndrome - WWS (1.33, 2.19, 2.20, 10.55)
* fukuyama congenital muscular dystrophy - FCMD (1.33, 2.19, 2.20, 10.55)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.33, 2.19, 2.20, 10.55)
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.33, 2.19, 2.20, 10.55)
* Cardiomyopathy, dilated, 1X - CMD1X (1.33, 2.19, 2.20, 10.55)
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.33, 2.19, 2.20, 10.55)
Fukutin-related protein
FKRP (19q13.32)


* Walker-Warburg syndrome - WWS (1.29, 2.23, 2.29, 2.32)
* Muscle-eye-brain disease - MEB (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.29, 2.23, 2.29, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.29, 2.23, 2.29, 2.32)
Fusion (involved in t(12;16) in malignant liposarcoma)
FUS (16q12)


* Amyotrophic lateral sclerosis - ALS6 (12.44)