Search results for pax3

147 hits were found for pax3

# Family MCID Name MIFTS Score
1
c WRD030 Waardenburg Syndrome, Type 1 56 5.815
2
CRN048 Craniofacial-Deafness-Hand Syndrome 49 5.669
3
P WRD001 Waardenburg's Syndrome 59 5.329
4
c WRD031 Waardenburg Syndrome, Type 3 45 4.281
5
P RHB003 Rhabdomyosarcoma 63 4.174
6
c RHB024 Rhabdomyosarcoma 2 67 4.123
7
NRL016 Neural Tube Defects 82 3.652
8
P SNS001 Sensorineural Hearing Loss 60 2.823
9
MCR013 Microphthalmia 57 2.810
10
P EMB005 Embryonal Rhabdomyosarcoma 53 2.739
11
P MDL005 Medulloblastoma 77 2.647
12
MYL020 Myelomeningocele 51 2.625
13
PLM030 Pleomorphic Rhabdomyosarcoma 40 2.572
14
RRG078 Rare Genetic Deafness 29 2.372
15
EWN003 Ewing Sarcoma 69 2.186
16
P HRS035 Hirschsprung Disease 1 65 2.186
17
BRN032 Brain Glioma 45 2.186
18
MSC072 Muscle Cancer 45 2.162
19
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 62 2.133
20
PBL005 Piebald Trait 59 2.133
21
PND002 Pendred Syndrome 65 2.100
22
P ANR048 Aniridia 1 63 2.100
23
P RTN018 Retinal Disease 53 2.100
24
c WRD033 Waardenburg Syndrome, Type 2e 53 1.615
25
c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 49 1.590
26
P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 23 1.590
27
c WRD032 Waardenburg Syndrome, Type 2a 46 1.562
28
MSM014 Mismatch Repair Cancer Syndrome 65 1.529
29
DGR001 Digeorge Syndrome 64 1.529
30
SRC027 Sarcoma, Synovial 58 1.529
31
TTZ003 Tietz Albinism-Deafness Syndrome 58 1.529
32
MGC001 Megacolon 46 1.529
33
SPN009 Spindle Cell Rhabdomyosarcoma 41 1.529
34
SKL003 Skeletal Muscle Cancer 30 1.529
35
BSL036 Basal Cell Nevus Syndrome 73 1.485
36
CHR103 Charge Syndrome 67 1.485
37
MYX005 Myxoid Liposarcoma 66 1.485
38
c WLM013 Wilms Tumor 1 65 1.485
39
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 51 1.485
40
c WRD020 Waardenburg Syndrome, Type 4a 48 1.485
41
c WRD019 Waardenburg Syndrome, Type 4b 45 1.485
42
c WRD024 Waardenburg Syndrome, Type 4c 45 1.485
43
P ORF002 Orofacial Cleft 44 1.485
44
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 43 1.485
45
PHY002 Physical Disorder 42 1.485
46
CLR015 Clear Cell Basal Cell Carcinoma 39 1.485
47
MSC190 Muscular Disease 37 1.485
48
ECT002 Ectomesenchymoma 36 1.485
49
c WRD022 Waardenburg Syndrome, Type 2d 35 1.485
50
P BTR001 Botryoid Rhabdomyosarcoma 35 1.485
51
DCR002 Dacryocystocele 34 1.485
52
ORB002 Orbit Embryonal Rhabdomyosarcoma 30 1.485
53
c WRD026 Waardenburg Syndrome, Type 2c 29 1.485
54
CNV003 Conventional Fibrosarcoma 29 1.485
55
ORB011 Orbit Rhabdomyosarcoma 29 1.485
56
PRM208 Parameningeal Embryonal Rhabdomyosarcoma 28 1.485
57
BRS031 Breast Rhabdomyosarcoma 26 1.485
58
c CHR088 Chronic Inflammation of Lacrimal Passage 25 1.485
59
SYN008 Synovium Cancer 22 1.485
60
CNT042 Central Nervous System Mesenchymal Non-Meningothelial Tumor 20 1.485
61
CNT021 Central Nervous System Rhabdomyosarcoma 17 1.485
62
c BRN108 Branchiootic Syndrome 1 62 0.263
63
P MLN008 Melanoma 69 0.241
64
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.174
65
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.174
66
P GLM045 Glioma 63 0.149
67
GLL048 Glial Tumor 45 0.149
68
HLX001 Helix Syndrome 47 0.129
69
P MSC005 Muscular Dystrophy 66 0.118
70
c DPH024 Diaphragmatic Hernia, Congenital 63 0.118
71
CTT001 Catatrichy 15 0.118
72
P NRB001 Neuroblastoma 72 0.105
73
CNT061 Conotruncal Heart Malformations 63 0.105
74
P SKN015 Skin Carcinoma 66 0.091
75
CLF027 Cleft Palate, Isolated 64 0.091
76
EXN003 Exencephaly 31 0.091
77
HTR005 Heterochromia Iridis 22 0.091
78
OST159 Osteogenic Sarcoma 66 0.074
79
SRC014 Sarcoma 65 0.074
80
c PRC016 Pre-Eclampsia 63 0.074
81
HYP066 Hyperglycemia 61 0.074
82
c DWL002 Dowling-Degos Disease 1 58 0.074
83
DBL002 Double Outlet Right Ventricle 56 0.074
84
SPN035 Spindle Cell Sarcoma 53 0.074
85
PLY150 Polykaryocytosis Inducer 31 0.074
86
P OVR042 Ovarian Cancer 88 0.053
88
P GST053 Gastric Cancer 83 0.053
89
CRV035 Cervical Cancer 76 0.053
90
GLB015 Glioblastoma Multiforme 75 0.053
91
BRN028 Brain Cancer 74 0.053
92
MSC157 Muscular Dystrophy, Duchenne Type 72 0.053
93
P ATS364 Autism 70 0.053
94
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67 0.053
96
P HYD006 Hydrocephalus 66 0.053
97
P HRP006 Herpes Simplex 65 0.053
98
SPT006 Septooptic Dysplasia 64 0.053
99
c WLM018 Wilms Tumor 5 61 0.053
100
NRL005 Neurilemmoma 60 0.053
101
DPH001 Diphtheria 60 0.053
102
P SCL018 Scoliosis 60 0.053
103
P EMR001 Emery-Dreifuss Muscular Dystrophy 60 0.053
104
P MCR010 Microcephaly 59 0.053
105
THY029 Thyroid Carcinoma 59 0.053
106
P HMN036 Hemangiopericytoma, Malignant 59 0.053
107
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.053
108
EYD002 Eye Disease 58 0.053
109
P PRP019 Peripheral Nervous System Disease 58 0.053
110
HYP266 Hypoxia 57 0.053
111
P NRP001 Neuropathy 56 0.053
112
SFT003 Soft Tissue Sarcoma 56 0.053
113
ANN002 Anencephaly 56 0.053
114
EMB004 Embryonal Carcinoma 56 0.053
115
VLC001 Velocardiofacial Syndrome 54 0.053
116
c MLG077 Malignant Peripheral Nerve Sheath Tumor 54 0.053
117
CLF001 Cleft Lip 53 0.053
118
HMC014 Homocysteinemia 53 0.053
119
P RTN022 Retinal Vein Occlusion 53 0.053
120
P MSC003 Muscular Atrophy 52 0.053
121
P ECL001 Eclampsia 50 0.053
122
HYP748 Hypertelorism 50 0.053
123
47X002 47,xyy 49 0.053
124
BKR002 Baker-Gordon Syndrome 49 0.053
125
P ENC008 Encephalocele 47 0.053
126
c CNG216 Congenital Hydrocephalus 47 0.053
127
P RTN014 Retinal Artery Occlusion 47 0.053
128
ALB002 Albinism 46 0.053
129
OBS004 Obstructive Hydrocephalus 46 0.053
130
c RTN041 Retinitis Pigmentosa 11 42 0.053
131
IDP070 Idiopathic Scoliosis 42 0.053
132
c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 42 0.053
133
P SCL057 Scoliosis, Isolated 1 41 0.053
134
c DFN107 Deafness, Autosomal Dominant 10 41 0.053
135
BRN026 Branch Retinal Artery Occlusion 40 0.053
136
P DYS021 Dysautonomia 39 0.053
137
OVR094 Ovarian Epithelial Cancer 38 0.053
138
DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 36 0.053
139
TLC001 Telecanthus 35 0.053
140
c WRD029 Waardenburg Syndrome, Type 2b 29 0.053
141
PRX085 Preaxial Hallucal Polydactyly 28 0.053
142
MNP001 Monophasic Synovial Sarcoma 28 0.053
143
CLL001 Cellular Schwannoma 27 0.053
144
SKL002 Skeletal Muscle Neoplasm 25 0.053
145
P SPN237 Spina Bifida Aperta 20 0.053
146
SPN034 Spindle Cell Synovial Sarcoma 19 0.053
147
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 18 0.053
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