Search results for polr3a

119 hits were found for polr3a

# Family MCID Name MIFTS Score
1
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 58 61.721
3
WDM005 Wiedemann-Rautenstrauch Syndrome 47 45.576
4
P LKD001 Leukodystrophy 59 24.686
5
HYP080 Hypogonadism 50 21.807
6
P HYP730 Hypogonadotropic Hypogonadism 53 21.344
7
P HYP700 Hypomyelinating Leukodystrophy 34 19.869
8
P SPS008 Spastic Ataxia 41 15.271
9
P DMN001 Diamond-Blackfan Anemia 71 12.829
10
c HRD026 Hereditary Ataxia 47 11.999
11
TTH002 Tooth Agenesis 61 11.712
12
HYP659 Hypomyelinating Leukoencephalopathy 19 11.710
13
c LKD008 Leukodystrophy, Hypomyelinating, 4 36 11.485
14
P PRG139 Progeroid Syndrome 27 11.436
15
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38 11.308
16
P ENT005 Entropion 34 9.934
17
PLZ002 Pelizaeus-Merzbacher-Like Disease 37 9.652
18
c DMN006 Diamond-Blackfan Anemia 3 38 8.897
19
c LKD015 Leukodystrophy, Hypomyelinating, 3 42 8.800
20
CHR382 Chromosome 18q Deletion Syndrome 40 8.101
21
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 8.058
22
P DYS193 Dystonia 11, Myoclonic 55 7.904
23
P TRC072 Treacher Collins Syndrome 1 62 7.646
24
GRD009 Gordon Holmes Syndrome 50 7.646
25
BCH003 Boucher-Neuhauser Syndrome 41 7.646
26
LKN001 Leukoencephalopathy with Vanishing White Matter 63 7.025
27
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70 7.025
28
c LKD020 Leukodystrophy, Hypomyelinating, 10 43 7.025
29
c SPS214 Spastic Ataxia 4 20 7.025
30
c SPS229 Spastic Ataxia 8 20 7.025
31
c LKD016 Leukodystrophy, Hypomyelinating, 9 34 7.025
32
PST029 Postmenopausal Atrophic Vaginitis 38 7.025
33
CRB033 Cerebral Degeneration 39 7.025
34
P DYS154 Dystonia 64 5.474
35
HTC003 Hutchinson-Gilford Progeria Syndrome 65 4.793
36
PRP016 Paraplegia 52 4.412
37
P TRM003 Tremor 48 4.314
38
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 4.035
39
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 3.991
40
c HRD010 Hereditary Spastic Paraplegia 66 3.889
41
P HYP265 Hypotonia 42 3.618
42
SPS057 Spasticity 42 3.176
43
P MYP006 Myopia 56 2.969
44
DYS073 Dysphagia 53 2.954
45
P MVM001 Movement Disease 61 2.761
46
ATS010 Autosomal Recessive Disease 42 2.747
48
P PRK039 Parkinsonism 55 2.344
49
PRM329 Premature Aging 36 2.232
50
c DMN023 Diamond-Blackfan Anemia 1 66 2.193
51
GRW007 Growth Hormone Deficiency 46 2.089
52
MTB004 Metabolic Acidosis 48 2.089
53
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 1.942
54
PTH003 Pathologic Nystagmus 52 1.942
55
HYP264 Hypertonia 36 1.942
56
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 51 1.776
57
APH002 Aphasia 56 1.776
58
MLD018 Mild Cognitive Impairment 48 1.776
59
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 1.776
60
AMN001 Amenorrhea 54 1.776
61
P PRH002 Pure Hereditary Spastic Paraplegia 21 1.578
62
c ATS007 Autism Spectrum Disorder 72 1.578
63
CNG562 Congenital Hypogonadotropic Hypogonadism 33 1.578
64
P SYS005 Systemic Scleroderma 74 1.523
65
CHC001 Chickenpox 57 1.243
66
c SCL052 Scleroderma, Familial Progressive 61 1.077
67
P PLZ001 Pelizaeus-Merzbacher Disease 65 1.077
68
ATM095 Autoimmune Disease 61 1.077
69
TTH029 Teeth Present at Birth 20 1.077
70
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 1.077
71
CNN005 Connective Tissue Disease 67 1.077
72
HYP068 Hyperostosis 47 1.077
73
c GM2006 Gm2 Gangliosidosis 46 1.077
74
c GM1007 Gm1 Gangliosidosis 65 1.077
75
TRC096 Trichothiodystrophy 55 1.077
76
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25 1.077
77
P GNG009 Gangliosidosis 44 1.077
78
SPS019 Spastic Paraparesis 38 0.988
79
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49 0.879
80
P MYC033 Myoclonus 47 0.879
81
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.873
82
P LNG021 Lung Occult Small Cell Carcinoma 20 0.873
83
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.873
84
P FML018 Familial Mediterranean Fever 73 0.622
85
P OCL013 Oculodentodigital Dysplasia 67 0.622
86
P MLT020 Multiple Sclerosis 79 0.622
87
P CLR023 Colorectal Cancer 100 0.622
88
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21 0.622
89
MLT132 Multifocal Dystonia 22 0.622
90
P CRB045 Cerebellar Hypoplasia 40 0.622
91
WLS001 Wilson Disease 70 0.622
92
c LBR015 Leber Congenital Amaurosis 5 42 0.622
93
c LKD021 Leukodystrophy, Hypomyelinating, 11 35 0.622
94
MGL033 Megalocornea-Mental Retardation Syndrome 29 0.622
95
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.622
96
c NMN015 Niemann-Pick Disease, Type C1 68 0.622
97
P PRS040 Prostate Cancer 95 0.622
98
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.622
99
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.622
100
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 0.622
101
P KLL001 Kallmann Syndrome 65 0.622
102
LRN003 Learning Disability 49 0.622
103
47X002 47,xyy 48 0.622
104
DYS018 Dysostosis 44 0.622
105
ACT049 Acute Disseminated Encephalomyelitis 48 0.622
106
P CTR002 Cataract 60 0.622
107
P OPT009 Optic Neuritis 57 0.622
108
P NMN002 Niemann-Pick Disease 60 0.622
109
NRT004 Neuritis 53 0.622
110
PLY024 Polymicrogyria 47 0.622
111
c SPS091 Spastic Paraplegia 4 27 0.622
112
P CRB088 Cerebral Atrophy 33 0.622
113
ATM076 Autoimmune Retinopathy 27 0.622
114
P OVR042 Ovarian Cancer 88 0.551
115
P BRS047 Breast Cancer 98 0.551
116
P PNC035 Pancreatic Cancer 86 0.551
117
CLL010 Cellular Ependymoma 57 0.551
118
ESP021 Esophageal Cancer 83 0.504
119
ESP027 Esophagus Squamous Cell Carcinoma 45 0.504
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