Search results for polr3a

179 hits were found for polr3a

# Family MCID Name MIFTS Score
1
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 61.913
3
WDM005 Wiedemann-Rautenstrauch Syndrome 47 43.047
4
P LKD001 Leukodystrophy 58 19.424
5
HYP080 Hypogonadism 49 18.092
6
P HYP730 Hypogonadotropic Hypogonadism 57 17.843
7
P HYP700 Hypomyelinating Leukodystrophy 35 15.852
8
P SPS008 Spastic Ataxia 41 12.585
9
c LKD008 Leukodystrophy, Hypomyelinating, 4 36 11.630
10
P DMN001 Diamond-Blackfan Anemia 73 11.381
11
c HRD026 Hereditary Ataxia 46 11.273
12
HYP659 Hypomyelinating Leukoencephalopathy 18 10.983
13
P ENT005 Entropion 34 10.036
14
LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38 9.869
15
P PRG139 Progeroid Syndrome 30 9.317
16
TTH002 Tooth Agenesis 61 9.253
17
PLZ002 Pelizaeus-Merzbacher-Like Disease 37 8.939
18
c LKD015 Leukodystrophy, Hypomyelinating, 3 43 8.044
19
c DMN006 Diamond-Blackfan Anemia 3 39 7.873
20
P DYS193 Dystonia 11, Myoclonic 55 7.299
21
GRD009 Gordon Holmes Syndrome 50 7.240
22
BCH003 Boucher-Neuhauser Syndrome 41 7.240
23
P TRC072 Treacher Collins Syndrome 1 62 7.240
24
LKN001 Leukoencephalopathy with Vanishing White Matter 63 7.096
25
c LKD020 Leukodystrophy, Hypomyelinating, 10 42 7.096
26
c SPS214 Spastic Ataxia 4 24 7.096
27
c LKD016 Leukodystrophy, Hypomyelinating, 9 35 7.096
28
CRB033 Cerebral Degeneration 36 7.096
29
c SPS229 Spastic Ataxia 8 21 7.096
30
PST029 Postmenopausal Atrophic Vaginitis 39 7.096
31
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 4.204
32
P DYS154 Dystonia 64 2.686
33
PRP016 Paraplegia 52 2.441
34
HTC003 Hutchinson-Gilford Progeria Syndrome 65 2.309
35
c HRD010 Hereditary Spastic Paraplegia 65 2.100
36
P TRM003 Tremor 50 2.071
37
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.007
38
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 1.852
39
P HYP265 Hypotonia 42 1.767
40
SPS057 Spasticity 43 1.665
41
P MYP006 Myopia 55 1.617
42
DYS073 Dysphagia 53 1.442
43
ATS010 Autosomal Recessive Disease 42 1.395
44
P PRK039 Parkinsonism 55 1.368
45
PRM329 Premature Aging 36 1.276
46
P MVM001 Movement Disease 61 1.175
48
c DMN023 Diamond-Blackfan Anemia 1 68 1.099
49
MTB004 Metabolic Acidosis 48 1.020
50
GRW007 Growth Hormone Deficiency 47 1.020
51
SPS019 Spastic Paraparesis 38 0.989
52
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.986
53
PTH003 Pathologic Nystagmus 52 0.986
54
HYP264 Hypertonia 35 0.986
55
APH002 Aphasia 55 0.948
56
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 50 0.948
57
MLD018 Mild Cognitive Impairment 48 0.948
58
P NRD007 Neurodegeneration with Brain Iron Accumulation 51 0.948
59
AMN001 Amenorrhea 53 0.948
60
c ATS007 Autism Spectrum Disorder 71 0.902
61
CNG562 Congenital Hypogonadotropic Hypogonadism 28 0.902
62
P PRH002 Pure Hereditary Spastic Paraplegia 21 0.902
63
P LNG021 Lung Occult Small Cell Carcinoma 20 0.871
64
LNG019 Lung Combined Type Small Cell Carcinoma 34 0.871
65
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.871
66
P OVR042 Ovarian Cancer 88 0.551
67
P BRS047 Breast Cancer 97 0.551
68
P PNC035 Pancreatic Cancer 87 0.551
69
CLL010 Cellular Ependymoma 58 0.551
70
ESP021 Esophageal Cancer 84 0.503
71
ESP027 Esophagus Squamous Cell Carcinoma 45 0.503
72
P SYS005 Systemic Scleroderma 73 0.351
73
CHC001 Chickenpox 56 0.287
74
c SCL052 Scleroderma, Familial Progressive 60 0.248
75
c MCP048 Mucopolysaccharidosis, Type Ivb 54 0.248
76
TTH029 Teeth Present at Birth 20 0.248
77
c GM1004 Gm1-Gangliosidosis, Type I 59 0.248
78
CHR382 Chromosome 18q Deletion Syndrome 40 0.248
79
SND001 Sandhoff Disease 66 0.248
80
SHR128 Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay 19 0.248
81
ATM095 Autoimmune Disease 61 0.248
82
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 0.248
83
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.248
84
c LKD019 Leukodystrophy, Hypomyelinating, 6 52 0.248
85
HYP068 Hyperostosis 47 0.248
86
CNN005 Connective Tissue Disease 66 0.248
87
c GM2006 Gm2 Gangliosidosis 46 0.248
88
c GM1007 Gm1 Gangliosidosis 65 0.248
89
c MCP004 Mucopolysaccharidosis Iv 61 0.248
90
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 27 0.248
91
TRC096 Trichothiodystrophy 56 0.248
92
P GNG009 Gangliosidosis 44 0.248
93
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.203
94
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.203
95
P OST002 Osteoporosis 76 0.203
96
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.203
97
BNR002 Bone Resorption Disease 47 0.203
98
c SPS092 Spastic Paraplegia 11 37 0.203
99
P JVN050 Juvenile Amyotrophic Lateral Sclerosis 43 0.203
100
P MYC033 Myoclonus 46 0.203
101
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.143
102
INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 20 0.143
103
c NRP065 Neuropathy, Congenital Hypomyelinating, 3 27 0.143
104
c AMY022 Amyotrophic Lateral Sclerosis Type 5 34 0.143
105
MLT132 Multifocal Dystonia 21 0.143
106
CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21 0.143
107
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60 0.143
108
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 46 0.143
109
P PRS040 Prostate Cancer 95 0.143
110
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63 0.143
111
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.143
112
c TRC071 Treacher Collins Syndrome 3 29 0.143
113
c MYT029 Myotonia Congenita, Autosomal Recessive 41 0.143
114
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.143
115
P FML018 Familial Mediterranean Fever 73 0.143
116
c MCP043 Mucopolysaccharidosis, Type Iiia 60 0.143
117
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.143
118
P RTT002 Rett Syndrome 79 0.143
119
P CLR023 Colorectal Cancer 100 0.143
120
P MLT020 Multiple Sclerosis 79 0.143
121
c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 31 0.143
122
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 48 0.143
123
WLS001 Wilson Disease 70 0.143
124
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.143
125
NRD101 Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly 26 0.143
126
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37 0.143
127
c LKD021 Leukodystrophy, Hypomyelinating, 11 36 0.143
128
c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38 0.143
129
MYP156 Myopathy, Congenital, Progressive, with Scoliosis 22 0.143
130
c LKD034 Leukodystrophy, Hypomyelinating, 21 15 0.143
131
c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 41 0.143
132
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41 0.143
133
c PRX059 Peroxisome Biogenesis Disorder 1a 57 0.143
134
PCK003 Pick Disease of Brain 70 0.143
135
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 0.143
136
MGL033 Megalocornea-Mental Retardation Syndrome 26 0.143
137
c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 41 0.143
138
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 56 0.143
139
c NMN015 Niemann-Pick Disease, Type C1 68 0.143
140
CRB150 Cerebral Creatine Deficiency Syndrome 2 54 0.143
141
c DVL038 Developmental and Epileptic Encephalopathy 7 48 0.143
142
c PNT032 Pontocerebellar Hypoplasia, Type 9 41 0.143
143
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 44 0.143
144
INF129 Infantile Cerebellar-Retinal Degeneration 44 0.143
145
c MNT183 Mental Retardation, Autosomal Recessive 36 29 0.143
146
P OCL013 Oculodentodigital Dysplasia 66 0.143
147
c LBR015 Leber Congenital Amaurosis 5 42 0.143
148
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41 0.143
149
c EPL207 Epilepsy, Progressive Myoclonic, 1b 29 0.143
150
c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60 0.143
151
P CRB045 Cerebellar Hypoplasia 40 0.143
152
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 0.143
153
LBR036 Leber Plus Disease 67 0.143
154
PRX005 Peroxisomal Biogenesis Disorder 35 0.143
155
P MYT023 Myotonia Congenita 55 0.143
156
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 37 0.143
157
NRT004 Neuritis 53 0.143
158
DYS018 Dysostosis 43 0.143
159
c MCP001 Mucopolysaccharidosis Iii 69 0.143
160
END021 Endomyocardial Fibrosis 56 0.143
161
P NMN002 Niemann-Pick Disease 60 0.143
162
P OPT009 Optic Neuritis 57 0.143
163
P CTR002 Cataract 59 0.143
164
ACT049 Acute Disseminated Encephalomyelitis 53 0.143
165
P KLL001 Kallmann Syndrome 65 0.143
166
UNV001 Unverricht-Lundborg Syndrome 55 0.143
167
LRN003 Learning Disability 49 0.143
169
PLY024 Polymicrogyria 48 0.143
170
c SPS091 Spastic Paraplegia 4 28 0.143
171
P ZLL001 Zellweger Syndrome 65 0.143
172
P SPS012 Spastic Paraplegia 3a 33 0.143
173
ATM076 Autoimmune Retinopathy 27 0.143
174
47X002 47,xyy 47 0.143
175
MGL027 Megalocornea-Intellectual Disability Syndrome 21 0.143
176
c SPS034 Spastic Paraplegia 26 17 0.143
177
c SPS036 Spastic Paraplegia 3 32 0.143
178
PRK046 Parkin Type of Early-Onset Parkinson Disease 21 0.143
179
P CRB088 Cerebral Atrophy 32 0.143
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