Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Hereditary bundle branch system defect (10.104, 7.7, 10.35, 10.134, 10.141)
113900
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



Hereditary motor and sensory neuropathy – Lom (with deafness) (14.22, 14.91)
601455
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



Hereditary motor and sensory neuropathy 2A (14.41)
118210
MFN2 (1p36.22)
Mitofusin 2 (M)



Hereditary motor and sensory, neuropathy, proximal, type (14.63, 15.52)
604484
TFG (3q13)
TRK-fused gene



Hereditary motor and sensory, type 1C (14.3)
601098
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



Hereditary myopathy with early respiratory failure (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
603689
TTN (2q31)
Titin



hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.77)
? - (3p24-p22)
Hereditary sensory and autonomic neuropathy type IV (14.86)
256800
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



Hereditary sensory and autonomic neuropathy type VI (14.88)
614653
DST (6p12.1)
dystonin



Hereditary sensory and autonomic neuropathy type VIII (14.90)
616488
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



Hereditary sensory neuropathy type IF (14.80)
615632
ATL3 (11q13.1)
atlastin GTPase 3



Hereditary sensory neuropathy with dementia and hearing loss (14.92)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



Hereditary sensory neuropathy, type IIB (14.82)
613115
FAM134B (5p15.1)
family with sequence similarity 134 member B



Hutchinson-Gilford progeria syndrome (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
176670
LMNA (1q22)
Lamin A/C



Hyalin body myopathy (3.29)
255160
? - (3p22.2-p21.32)
Hydrocephalus with Hirschspung disease and cleft palate (15.63)
142623
L1CAM (Xq28)
L1 cell adhesion molecule



Hyperckemia, idiopathic (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
123320
CAV3 (3p25)
Caveolin 3



Hyperkalemic periodic paralysis (7.3, 7.5, 7.4, 7.6, 11.20)
170500
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Hyperkalemic periodic paralysis, type 2 (7.3, 7.5, 7.4, 7.6, 11.20)
613345
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Hypertrophic cardiomyopathy related to actinin-2 (10.31, 10.22)
ACTN2 (1q42-q43)
Actinin alpha2



Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.63, 10.21)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



Hypertrophic cardiomyopathy related to nexilin (10.66, 10.20)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



Hypertrophic cardiomyopathy related to phospholamban (10.45, 10.19)
PLN (6q22.1)
Phospholamban



Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.27)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast) (M)



Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.26)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3 (M)



Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.23)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M)



Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.16)
600649
CPT2 (1p32)
Carnitine palmitoyltransferase II (M)



Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.45)
170400
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



Hypokalaemic periodic paralysis, type 3 (7.11, 10.139)
170400
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



Hypokalemic periodic paralysis (7.8, 8.5, 3.45)
170400
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit