Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
158901
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



Familial amyotrophic lateral sclerosis (4.5, 12.64)
606070
MATR3 (5q31)
Matrin 3



Familial brachial plexus neuropathy (14.118)
162100
SEPT9 (17q25)
Septin 9



Familial dysautonomia (Riley-Day syndrome) (16.3, 14.100)
223900
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61)
613243
TNNC1 (3p21.3-p14.3)
Slow troponin C



Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.175)
613251
MYH6 (14q12)
Myosin heavy chain 6



Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.19)
614750
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



Familial limb girdle myasthenia related to agrin (11.14, 16.31)
254300
AGRN (1p36.33)
Agrin



Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18)
610542
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



Familial limb-girdle myasthenia related to DOK7 (11.16, 16.27)
254300
DOK7 (4p16.2)
Docking protein 7



familial sinusal bradycardia (10.173, 10.170)
163800
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



Familial spastic paraplegia, autosomal dominant, 2 (15.2)
182601
SPAST (2p24-p21)
Spastin



Fatty aldehyde dehydrogenase (15.68)
270200
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



Fetal akinesia deformation related to AGRN (11.14, 16.31)
AGRN (1p36.33)
Agrin



Fetal akinesia deformation sequance with MUSK defect (11.15, 16.26)
208150
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



Fetal akinesia deformation sequence 2 (11.17, 16.28)
618388
RAPSN (11p11.2-p11.1)
Rapsyn



Fetal akinesia deformation sequence 3 (11.16, 16.27)
618389
DOK7 (4p16.2)
Docking protein 7



Fetal akinesia deformation sequence 4 (16.29)
618393
NUP88 (17p13.2)
Nucleoporin 88kD



Fetal akinesia deformation sequence related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Fibrodysplasia ossificans progressiva (5.23)
135100
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



Fibrosis of extraocular muscles, congenital, 1 (16.5)
135700
KIF21A (12q12)
Kinesin family member 21A



Fibrosis of extraocular muscles, congenital, 2 (16.6)
602078
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



Fibrosis of extraocular muscles, congenital, 3 (16.7)
600638
TUBB3 (16q24.3)
Tubulin, beta 3



Fibrosis of extraocular muscles, congenital, 5 (16.8)
616219
COL25A1 (4q25)
Collagen, type XXV, alpha-1



Friedreich ataxia (13.51)
229300
FXN (9q13-q21.1)
Frataxin (M)



friedreich ataxia 2 (13.52)
601992
? - (9p23-p11)
Friedreich ataxia with retained reflexes (13.51)
229300
FXN (9q13-q21.1)
Frataxin (M)



fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.37)
253800
FKTN (9q31-q33)
Fukutin