Search results for actg1

188 hits were found for actg1

# Family MCID Name MIFTS Score
1
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38 52.762
2
c DFN354 Deafness, Autosomal Dominant 20 41 50.443
3
c BRT039 Baraitser-Winter Syndrome 2 26 43.450
4
BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 43 35.680
5
P LSS002 Lissencephaly 53 19.777
6
P BRT040 Baraitser-Winter Syndrome 34 18.714
7
P MCR010 Microcephaly 59 16.612
8
P HPT023 Hepatocellular Carcinoma 95 15.384
9
RRG078 Rare Genetic Deafness 38 14.453
10
P SNS001 Sensorineural Hearing Loss 59 13.998
11
P PTS002 Ptosis 52 13.550
12
P CLB034 Coloboma, Ocular, Autosomal Dominant 48 11.752
13
HYP748 Hypertelorism 46 11.388
14
c USH036 Usher Syndrome, Type I 60 9.924
15
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61 9.924
16
P USH001 Usher Syndrome 64 9.924
17
MCR013 Microphthalmia 60 9.924
18
c DLT002 Dilated Cardiomyopathy 79 9.924
19
P HYP061 Hypertrophic Cardiomyopathy 69 9.924
20
P CHR071 Charcot-Marie-Tooth Disease 64 9.781
21
P PRK057 Parkinson Disease, Late-Onset 79 9.781
22
P NNN008 Noonan Syndrome 1 76 9.781
23
c CNG513 Congenital Ptosis 42 9.781
24
TTH006 Tooth Disease 51 9.781
25
P LYN001 Lynch Syndrome 76 9.781
26
DSS008 Disease of Mental Health 74 9.083
27
MCR099 Microlissencephaly 39 7.934
28
P RTN008 Retinitis Pigmentosa 79 7.059
29
c RTN052 Retinitis Pigmentosa 23 37 6.916
30
c ATS005 Autosomal Dominant Nonsyndromic Deafness 24 6.916
31
c CTR103 Cataract 4, Multiple Types 49 6.916
32
P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 41 6.916
33
SLF002 Silo Filler's Disease 34 6.916
34
NTR027 Neutrophil Actin Dysfunction 27 6.916
35
HRD199 Hereditary Hearing Loss and Deafness 24 6.916
36
BRS029 Breast Myoepithelial Carcinoma 25 6.916
37
P GNT009 Giant Axonal Neuropathy 44 6.916
38
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.901
39
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.841
40
c BRN108 Branchiootic Syndrome 1 63 3.278
41
P BND018 Band Heterotopia 53 1.625
42
PCH002 Pachygyria 32 1.607
43
CLB010 Coloboma of Macula 53 1.589
44
P NNS072 Nonsyndromic Hearing Loss 40 1.509
45
c BRT038 Baraitser-Winter Syndrome 1 42 1.487
47
DGN001 Degenerative Disc Disease 48 1.286
48
c MSM022 Mismatch Repair Cancer Syndrome 1 69 1.138
49
c GLM043 Glioma Susceptibility 9 30 1.138
50
c GLM047 Glioma Susceptibility 3 32 1.138
51
c GLM025 Glioma Susceptibility 2 29 1.138
52
P GLM040 Glioma Susceptibility 1 70 1.138
53
P OLG002 Oligodendroglioma 66 1.138
54
MNN043 Meningioma, Familial 79 1.138
55
GLM045 Glioma 62 1.138
56
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 1.136
57
P MLN008 Melanoma 75 1.082
58
P RSP003 Respiratory Failure 74 1.052
60
P OVR042 Ovarian Cancer 88 0.984
61
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.980
62
DFN384 Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia 44 0.934
63
HLX001 Helix Syndrome 47 0.934
64
c DYS162 Dystonia, Juvenile-Onset 31 0.934
65
c NNS007 Nonsyndromic Deafness 32 0.934
66
P BRS047 Breast Cancer 97 0.753
67
P PNC035 Pancreatic Cancer 86 0.533
68
SZR001 Sezary's Disease 60 0.533
69
P SKN015 Skin Carcinoma 71 0.474
70
GLB002 Glioblastoma 67 0.404
71
TBL035 Tubulinopathy 34 0.350
72
RTN123 Retinochoroidal Coloboma 18 0.319
73
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.319
74
MYL069 Myeloma, Multiple 77 0.286
75
P LKM062 Leukemia, Acute Lymphoblastic 69 0.286
76
DFF005 Diffuse Large B-Cell Lymphoma 55 0.286
77
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.286
78
P LYM118 Lymphoma 69 0.286
79
P PRP019 Peripheral Nervous System Disease 57 0.286
80
P BCL017 B-Cell Lymphoma 57 0.286
81
P NRP001 Neuropathy 59 0.286
82
SNR002 Sener Syndrome 17 0.247
83
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.247
84
c WLF013 Wolfram Syndrome 1 60 0.247
85
c LSS005 Lissencephaly 1 57 0.247
86
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.247
87
P DYS154 Dystonia 64 0.247
88
PLY024 Polymicrogyria 46 0.247
89
CLF001 Cleft Lip 54 0.247
90
P LNG035 Lung Large Cell Carcinoma 53 0.247
91
c LRG001 Large Cell Carcinoma 48 0.247
92
P MSC005 Muscular Dystrophy 66 0.247
93
CLF004 Cleft Lip/palate 57 0.247
94
CNG506 Congenital Amyoplasia 27 0.247
95
P RRD005 Rare Deafness 19 0.247
96
c MCR133 Microvascular Complications of Diabetes 4 41 0.202
97
ONC007 Oncocytoma 49 0.202
98
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.202
99
c DFN097 Deafness, Autosomal Recessive 1a 49 0.202
100
DBW001 Dubowitz Syndrome 48 0.202
101
c ATS007 Autism Spectrum Disorder 72 0.202
102
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.202
103
P CLR023 Colorectal Cancer 100 0.202
104
c MCR113 Microvascular Complications of Diabetes 3 52 0.202
105
c MCR130 Microvascular Complications of Diabetes 6 41 0.202
106
c MCR120 Microvascular Complications of Diabetes 7 47 0.202
107
P ADN016 Adenocarcinoma 63 0.202
108
P RNL017 Renal Oncocytoma 54 0.202
109
AMN003 Amnestic Disorder 54 0.202
110
P LTR001 Lateral Sclerosis 58 0.202
111
P KDN017 Kidney Cancer 60 0.202
112
P LKM002 Leukemia 66 0.202
113
CLN015 Colon Adenocarcinoma 64 0.202
114
P BNG032 Benign Mesothelioma 53 0.202
115
ART002 Arts Syndrome 66 0.202
116
c LKM061 Leukemia, Acute Myeloid 83 0.202
117
P MYL006 Myeloid Leukemia 60 0.202
118
P MSC003 Muscular Atrophy 52 0.202
119
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 30 0.202
120
P MYP004 Myopathy 67 0.202
121
CLR030 Clear Cell Renal Cell Carcinoma 54 0.202
122
c BRT024 Bartter Syndrome Type 4 25 0.202
123
OST012 Osteoarthritis 77 0.202
124
MLG079 Malignant Pleural Mesothelioma 42 0.202
125
CLB009 Coloboma of Iris 25 0.202
126
DFN038 Dfnb1 34 0.202
127
P ALZ034 Alzheimer Disease 87 0.143
128
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40 0.143
129
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 0.143
130
c RTN046 Retinitis Pigmentosa 17 37 0.143
131
c DFN159 Deafness, Autosomal Dominant 5 31 0.143
132
c DFN201 Deafness, Autosomal Recessive 3 37 0.143
133
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 50 0.143
134
DWN001 Down Syndrome 70 0.143
135
CRV035 Cervical Cancer 72 0.143
136
c DFN250 Deafness, Autosomal Recessive 2 45 0.143
137
ACT119 Acute Promyelocytic Leukemia 62 0.143
138
P DNG005 Dengue Virus 55 0.143
139
P PLM037 Pulmonary Hypertension 69 0.143
140
EST007 Estrogen Resistance 41 0.143
141
HMN047 Human Cytomegalovirus Infection 59 0.143
142
NRR001 Neuroretinitis 42 0.143
143
P CRB045 Cerebellar Hypoplasia 40 0.143
144
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 0.143
145
P RHM011 Rheumatoid Arthritis 81 0.143
146
OST006 Osteoblastoma 38 0.143
147
BRL010 Buruli Ulcer 45 0.143
148
PCT003 Pectus Excavatum 43 0.143
149
c DFN188 Deafness, Autosomal Recessive 61 32 0.143
150
P LNG064 Lung Cancer Susceptibility 3 70 0.143
151
P STR020 Strabismus 56 0.143
152
P OMP004 Omphalocele 47 0.143
153
P PRV002 Periventricular Nodular Heterotopia 52 0.143
154
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.143
155
c ACT027 Acute Pancreatitis 60 0.143
156
P PNC044 Pancreatitis 61 0.143
157
P ATR010 Atrial Heart Septal Defect 58 0.143
158
CHN004 Chondroblastoma 41 0.143
159
P CRV039 Cervicitis 52 0.143
160
HRT011 Heart Septal Defect 49 0.143
161
CYS002 Cystic Lymphangioma 45 0.143
162
LNG039 Lung Squamous Cell Carcinoma 57 0.143
163
RTN023 Retinitis 45 0.143
164
MSC157 Muscular Dystrophy, Duchenne Type 79 0.143
165
OST159 Osteogenic Sarcoma 66 0.143
166
OST016 Osteochondrosis 52 0.143
167
P CRB088 Cerebral Atrophy 33 0.143
168
BNG036 Bone Giant Cell Tumor 48 0.143
169
c PRM212 Primary Microcephaly 40 0.143
170
P HRP006 Herpes Simplex 65 0.143
171
INF065 Infantile Hypotonia 21 0.143
172
P MGL013 Megalencephaly 46 0.143
173
P HYP265 Hypotonia 42 0.143
174
NRN016 Neuronal Migration Disorders 40 0.143
175
P CTR002 Cataract 59 0.143
176
P TRC031 Trichorhinophalangeal Syndrome 37 0.143
177
CLR017 Clear Cell Sarcoma 44 0.143
178
MCH006 Mechanical Strabismus 40 0.143
179
48X005 48,xyyy 39 0.143
180
P ADT009 Auditory Neuropathy Spectrum Disorder 33 0.143
181
P ART022 Arthritis 70 0.143
182
CNG065 Congenital Contractures 25 0.143
183
CNG069 Congenital Cytomegalovirus 51 0.143
184
GRW007 Growth Hormone Deficiency 47 0.143
185
HMM003 Hemimegalencephaly 53 0.143
186
DWR001 Dwarfism 45 0.143
188
NNS044 Non-Syndromic Genetic Deafness 38 0.143
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