Search results for COQ8A

57 hits were found for COQ8A

# Family MCID Name MIFTS Score
1
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 41 57.145
2
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 22.509
3
P MTC069 Mitochondrial Disorders 57 15.003
4
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 42 13.147
5
LGH017 Leigh Syndrome with Nephrotic Syndrome 29 13.147
6
c HRD026 Hereditary Ataxia 46 10.342
7
KRN002 Kearns-Sayre Syndrome 62 10.082
8
CNZ001 Coenzyme Q10 Deficiency Disease 41 9.157
9
ACR006 Aceruloplasminemia 63 8.662
10
c JBR025 Joubert Syndrome 17 45 8.662
11
PTH003 Pathologic Nystagmus 52 8.662
12
P SPS008 Spastic Ataxia 41 8.221
13
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59 7.129
14
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60 7.129
15
P MRN003 Marinesco-Sjogren Syndrome 51 7.129
16
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 7.129
17
LGH007 Leigh Syndrome 70 7.129
18
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 7.129
19
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 43 7.129
20
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 7.129
21
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41 7.129
22
P CRD224 Cardiofaciocutaneous Syndrome 1 71 7.129
23
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 34 7.129
24
CNZ009 Coenzyme Q10 Deficiency, Primary, 5 37 7.129
25
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52 7.129
26
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43 7.129
27
CRB027 Cerebellar Disease 47 7.129
28
c CHR095 Chronic Progressive External Ophthalmoplegia 48 7.129
29
MTC004 Mitochondrial Encephalomyopathy 42 7.129
30
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 2.703
31
P DYS154 Dystonia 64 1.731
32
P MVM001 Movement Disease 61 1.704
33
P TRM003 Tremor 50 1.675
34
P JBR020 Joubert Syndrome 1 74 1.533
35
P MYC033 Myoclonus 46 1.224
36
P CRB088 Cerebral Atrophy 32 1.224
37
P SCL018 Scoliosis 57 1.185
38
DYS199 Dystonia with Cerebellar Atrophy 14 1.185
39
FCL022 Focal Dystonia 41 1.185
40
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 1.185
41
SPC005 Speech Disorder 46 1.185
42
P DYS021 Dysautonomia 38 1.185
43
MSC152 Muscular Dystrophy, Becker Type 69 1.141
44
P MSC005 Muscular Dystrophy 66 1.141
45
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.092
46
P BRS047 Breast Cancer 97 1.043
47
P MCR010 Microcephaly 59 0.957
48
P SZR006 Seizure Disorder 69 0.957
49
P PNC035 Pancreatic Cancer 87 0.602
50
P NPH012 Nephrotic Syndrome 61 0.368
51
P ATX030 Ataxia-Telangiectasia 80 0.260
52
TLN003 Telangiectasis 51 0.260
53
c ATR087 Atrial Standstill 1 74 0.184
54
P HNT016 Huntington Disease 73 0.184
55
P HYP061 Hypertrophic Cardiomyopathy 68 0.184
56
CMB094 Combined Dystonia 14 0.184
57
P ENC018 Encephalopathy 62 0.184
Content
Loading form....