Search results for RYR1

142 hits were found for RYR1

# Family MCID Name MIFTS Score
1
CNT105 Central Core Disease of Muscle 60 7.463
2
c MLG147 Malignant Hyperthermia 1 43 7.386
3
P CNT009 Central Core Myopathy 46 6.639
4
MNC011 Minicore Myopathy with External Ophthalmoplegia 37 6.627
5
P MLG056 Malignant Hyperthermia 67 5.529
6
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 43 5.245
7
P MYP004 Myopathy 70 4.522
8
MLG086 Malignant Hyperthermia Susceptibility 39 4.350
9
CNG046 Congenital Fiber-Type Disproportion 54 4.112
10
MLT028 Multiminicore Disease 37 3.862
11
NRM005 Neuromuscular Disease 64 3.276
12
c ART144 Arthrogryposis, Distal, Type 1a 61 3.171
13
c MYP132 Myopathy, Congenital 55 2.985
14
P CNT004 Centronuclear Myopathy 59 2.933
15
P PTS002 Ptosis 53 2.933
16
P DST002 Distal Arthrogryposis 63 2.848
17
P HRT032 Heart Disease 75 2.761
18
P SCL018 Scoliosis 60 2.576
19
P MSC005 Muscular Dystrophy 66 2.468
20
CLB002 Clubfoot 51 2.468
21
c MYP131 Myopathy, Centronuclear, 2 51 2.445
22
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 2.420
23
c MYP123 Myopathy, Centronuclear, 1 54 2.420
24
P MYS003 Myasthenia Gravis 68 2.391
25
P THY023 Thymoma 65 2.391
26
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62 2.391
27
P MYS005 Myositis 56 2.391
28
P FTL069 Fetal Akinesia Deformation Sequence 1 64 2.347
29
P RSP003 Respiratory Failure 74 2.104
30
c CNG563 Congenital Myopathy with Cores 16 2.084
31
P CNG001 Congenital Myasthenic Syndrome 66 2.063
32
MLT163 Multiple Pterygium Syndrome, Escobar Variant 64 2.040
33
c CNG513 Congenital Ptosis 42 2.040
34
P DYS154 Dystonia 65 2.015
35
P VNT002 Ventricular Septal Defect 60 2.015
36
NRL004 Neuroleptic Malignant Syndrome 56 2.015
37
P MSC003 Muscular Atrophy 52 2.015
38
MTB004 Metabolic Acidosis 50 2.015
39
P PRD021 Periodic Paralysis 45 2.015
40
P SPN046 Spinal Muscular Atrophy 62 1.986
41
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 1.952
42
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 63 1.952
43
LRN003 Learning Disability 49 1.952
44
SYN005 Synostosis 45 1.952
45
P MTC004 Mitochondrial Encephalomyopathy 44 1.952
46
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 40 1.595
47
P BCK002 Beckwith-Wiedemann Syndrome 62 1.487
48
SCR020 Sacral Defect with Anterior Meningocele 52 1.487
49
MLT134 Multiple Pterygium Syndrome, Lethal Type 51 1.487
50
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 43 1.487
51
CNG065 Congenital Contractures 27 1.487
52
P CRC039 Coarctation of Aorta 47 1.459
53
SPC031 Specific Learning Disability 37 1.459
54
BRN133 Bronchomalacia 33 1.459
55
BNG075 Benign Samaritan Congenital Myopathy 13 1.459
56
MYP136 Myopathy, Centronuclear, X-Linked 59 1.425
57
MYP159 Myopathy, Proximal, with Ophthalmoplegia 55 1.425
58
MSC190 Muscular Disease 37 1.425
59
EXR008 Exercise-Induced Malignant Hyperthermia 20 1.425
60
MLT168 Multicore Disease 13 1.425
61
CNG459 Congenital Myopathy with Myasthenic-Like Onset 11 1.425
62
c MYT021 Myotonic Dystrophy 1 69 1.380
63
c GLY004 Glycogen Storage Disease V 62 1.380
64
P BTH005 Bethlem Myopathy 1 62 1.380
65
P PRP019 Peripheral Nervous System Disease 58 1.380
66
BRD001 Brody Myopathy 57 1.380
67
c RGD003 Rigid Spine Muscular Dystrophy 1 56 1.380
68
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.380
69
P MYP087 Myopathy, Tubular Aggregate, 1 53 1.380
70
c CPL013 Capillary Malformations, Congenital 50 1.380
71
MYP151 Myopathy, Congenital, Bailey-Bloch 47 1.380
72
c ARR046 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 46 1.380
73
c FML036 Familial Periodic Paralysis 44 1.380
74
OCL011 Ocular Motility Disease 42 1.380
75
CPL005 Capillary Disease 36 1.380
76
MYT003 Myotonic Disease 35 1.380
77
ATR076 Atrophic Muscular Disease 30 1.380
78
P SKL032 Skeletal Muscle Disease 29 1.380
79
CNG032 Congenital Structural Myopathy 26 1.380
80
c ATS009 Autosomal Genetic Disease 25 1.380
81
BNS002 Bone Structure Disease 24 1.380
82
MSC004 Muscle Tissue Disease 21 1.380
83
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.233
84
KRN002 Kearns-Sayre Syndrome 63 0.178
85
P HYP265 Hypotonia 43 0.169
87
CRT045 Creatine Phosphokinase, Elevated Serum 39 0.151
88
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.131
89
ALK024 Alkuraya-Kucinskas Syndrome 51 0.131
90
P NML001 Nemaline Myopathy 49 0.131
91
CNG506 Congenital Amyoplasia 27 0.131
92
c ATR087 Atrial Standstill 1 75 0.107
93
P DVL012 Developmental Dysplasia of the Hip 1 38 0.107
94
P MYT002 Myotonic Dystrophy 49 0.093
95
HLX001 Helix Syndrome 47 0.093
96
PST092 Posttransplant Acute Limbic Encephalitis 29 0.093
97
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.076
98
P OST002 Osteoporosis 74 0.076
99
GST092 Gastroesophageal Reflux 67 0.076
100
APN008 Apnea, Obstructive Sleep 64 0.076
101
PTT046 Pituitary Hormone Deficiency, Combined, 2 64 0.076
102
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.076
103
P ATR010 Atrial Heart Septal Defect 60 0.076
104
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.076
105
P MTC133 Mitochondrial Myopathy 49 0.076
106
47X002 47,xyy 49 0.076
107
FCL012 Facial Paralysis 46 0.076
108
P RRC004 Rare Cardiomyopathy 44 0.076
109
ANK020 Ankyloglossia with or Without Tooth Anomalies 44 0.076
110
INT276 Interatrial Communication 42 0.076
111
48X005 48,xyyy 39 0.076
112
OCL015 Oculomotor Apraxia 37 0.076
113
MYT011 Myotonia 34 0.076
114
NNC019 Non-Acquired Panhypopituitarism 20 0.076
115
NRL016 Neural Tube Defects 82 0.054
116
P HYD006 Hydrocephalus 66 0.054
117
MSC007 Muscle Hypertrophy 64 0.054
118
CRD132 Cardiac Conduction Defect 58 0.054
119
MBS002 Moebius Syndrome 57 0.054
120
c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 54 0.054
121
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.054
122
IMP005 Impotence 52 0.054
123
P HYP040 Hypospadias 51 0.054
124
P MYS079 Miyoshi Muscular Dystrophy 50 0.054
125
TKL001 Tukel Syndrome 50 0.054
126
ATS010 Autosomal Recessive Disease 48 0.054
127
CYS002 Cystic Lymphangioma 48 0.054
128
PLY012 Polyhydramnios 46 0.054
129
DYS018 Dysostosis 44 0.054
130
SPN221 Spina Bifida Occulta 39 0.054
131
c SVR040 Severe Congenital Nemaline Myopathy 31 0.054
132
c MLG151 Malignant Hyperthermia 5 28 0.054
133
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 28 0.054
134
STC018 Stac3 Disorder 25 0.054
135
P PRD017 Periodic Paralyses 25 0.054
136
c MLG148 Malignant Hyperthermia 2 24 0.054
137
CMP017 Camptocormism 23 0.054
138
c MLG149 Malignant Hyperthermia 3 22 0.054
139
c MLG150 Malignant Hyperthermia 4 21 0.054
140
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 19 0.054
141
c MLG152 Malignant Hyperthermia 6 19 0.054
142
c CNG579 Congenital Nemaline Myopathy 18 0.054
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