Search results for POLG2

104 hits were found for POLG2

# Family MCID Name MIFTS Score
1
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52 40.895
2
c MTC182 Mitochondrial Dna Depletion Syndrome 16 25 31.035
3
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45 22.134
4
P MTC010 Mitochondrial Dna Depletion Syndrome 46 15.766
5
P MYP004 Myopathy 67 13.988
6
KRN002 Kearns-Sayre Syndrome 62 12.637
7
c CHR095 Chronic Progressive External Ophthalmoplegia 48 12.181
8
P MTC069 Mitochondrial Disorders 57 11.681
9
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 11.182
10
PRM013 Premature Menopause 57 11.112
11
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 10.239
12
P LCT001 Lactic Acidosis 50 10.239
13
MTB004 Metabolic Acidosis 48 10.082
14
LGH007 Leigh Syndrome 70 10.082
15
c ACT134 Acute Liver Failure 57 9.054
16
MTC005 Mitochondrial Metabolism Disease 44 8.637
17
P MTC133 Mitochondrial Myopathy 51 8.289
18
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59 7.351
19
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54 7.351
20
c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54 7.286
21
P MTC140 Mitochondrial Dna Maintenance Defects 25 7.286
22
c MTC063 Mitochondrial Dna Depletion Syndrome 3 51 7.129
23
c MTC054 Mitochondrial Dna Depletion Syndrome 7 53 7.129
24
c MTC058 Mitochondrial Dna Depletion Syndrome 6 48 7.129
25
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 7.129
26
CNJ001 Conjugate Gaze Palsy 30 7.129
27
VSL005 Visual Pathway Disease 25 7.129
28
OCL011 Ocular Motility Disease 45 7.129
29
VSL004 Visual Cortex Disease 21 7.129
30
c OPT053 Optic Atrophy 1 62 1.696
31
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.620
32
CYS013 Cystinuria 66 1.259
33
P HYP069 Hyperparathyroidism 62 1.259
34
NPH009 Nephrolithiasis 54 1.259
35
c PRM005 Primary Hyperparathyroidism 59 1.259
36
P RNL007 Renal Tubular Acidosis 52 1.259
37
NPH003 Nephrocalcinosis 49 1.259
38
P BLD134 Bladder Cancer 79 1.234
39
P PTS002 Ptosis 52 1.160
40
P LVR013 Liver Disease 68 1.131
41
P PRK039 Parkinsonism 55 1.100
42
P PRP019 Peripheral Nervous System Disease 57 1.067
43
P PLY019 Polyneuropathy 52 1.067
44
SNS003 Sensory Peripheral Neuropathy 51 1.067
45
P NRP001 Neuropathy 59 1.067
46
P TRM003 Tremor 50 1.067
47
P BRS047 Breast Cancer 97 1.043
48
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 1.030
49
HYP080 Hypogonadism 49 1.030
50
P MVM001 Movement Disease 61 1.030
51
CHR073 Choreatic Disease 53 1.030
52
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.988
53
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.988
54
MCR017 Macrocytic Anemia 44 0.988
55
P EPL164 Epilepsy 70 0.716
56
P PNC035 Pancreatic Cancer 87 0.602
57
ORL011 Oral Cancer 60 0.351
58
ORL012 Oral Leukoplakia 35 0.351
59
MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47 0.351
60
LKP003 Leukoplakia 39 0.351
61
P GST053 Gastric Cancer 82 0.314
62
P GST044 Gastritis 55 0.314
63
P ATR005 Atrophic Gastritis 50 0.314
64
P SZR006 Seizure Disorder 69 0.272
65
AGN016 Aging 53 0.222
66
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.222
67
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49 0.222
68
P FRD001 Friedreich Ataxia 62 0.222
69
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.222
70
NRM005 Neuromuscular Disease 62 0.222
71
P INF032 Infertility 60 0.222
74
DYS073 Dysphagia 53 0.222
75
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.157
76
LTN004 Late-Onset Retinal Degeneration 59 0.157
77
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.157
78
DNT005 Dentatorubral-Pallidoluysian Atrophy 59 0.157
79
P MCH002 Machado-Joseph Disease 62 0.157
80
c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26 0.157
81
VTR018 Vitreoretinal Degeneration, Snowflake Type 38 0.157
82
c MCR115 Microvascular Complications of Diabetes 5 65 0.157
83
c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35 0.157
84
c MTC078 Mitochondrial Dna Depletion Syndrome 11 38 0.157
85
P MYS005 Myositis 55 0.157
86
c SPN294 Spinocerebellar Ataxia 1 53 0.157
87
P PRK057 Parkinson Disease, Late-Onset 79 0.157
88
INC002 Inclusion Body Myositis 56 0.157
89
c WLF013 Wolfram Syndrome 1 60 0.157
90
LBR036 Leber Plus Disease 67 0.157
91
P RSP003 Respiratory Failure 73 0.157
92
c HRD010 Hereditary Spastic Paraplegia 65 0.157
93
CMB053 Combined Oxidative Phosphorylation Deficiency 22 28 0.157
94
PRP016 Paraplegia 52 0.157
95
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.157
96
P RTN018 Retinal Disease 53 0.157
97
P RTN016 Retinal Degeneration 52 0.157
98
FTT001 Fatty Liver Disease 61 0.157
100
P VTR008 Vitreoretinal Degeneration 30 0.157
101
c MTC014 Mitochondrial Dna Deletion Syndromes 16 0.157
102
ATX010 Ataxia Neuropathy Spectrum 36 0.157
103
P ENC018 Encephalopathy 62 0.157
104
PRM329 Premature Aging 36 0.157
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