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, 12.59)
606070
MATR3 (5q31)
Matrin 3



Familial brachial plexus neuropathy (14.100)
162100
SEPT9 (17q25)
Septin 9



Familial dysautonomia (Riley-Day syndrome) (16.3, 14.90)
223900
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



Familial hypertrophic cardiomyopathy, 13 (10.12, 10.57)
613243
TNNC1 (3p21.3-p14.3)
Slow troponin C



Familial hypertrophic cardiomyopathy, 14 (10.1, 10.62, 10.13)
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)
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)
254300
DOK7 (4p16.2)
Docking protein 7



familial sinusal bradycardia (10.150, 10.148)
163800
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



Familial spastic paraplegia, autosomal dominant, 1 (182600
Familial spastic paraplegia, autosomal dominant, 2 (15.2)
182601
SPAST (2p24-p21)
Spastin



Fatty aldehyde dehydrogenase (15.61)
270200
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



Fibrodysplasia ossificans progressiva (5.19)
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)
Tubulin, beta 3



Friedreich ataxia (13.46)
229300
FXN (9q13-q21.1)
Frataxin (M)



friedreich ataxia 2 (13.47)
601992
? - (9p23-p11)
Friedreich ataxia with retained reflexes (13.46)
229300
FXN (9q13-q21.1)
Frataxin (M)



fukuyama congenital muscular dystrophy (2.19, 2.20, 10.55, 1.33)
253800
FKTN (9q31-q33)
Fukutin