Search results for sox3

199 hits were found for sox3

# Family MCID Name MIFTS Score
1
PNH005 Panhypopituitarism, X-Linked 26 32.400
2
MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 25 28.167
3
c 46X050 46,xx Sex Reversal 3 18 27.598
4
P HYP083 Hypopituitarism 52 20.619
5
GRW007 Growth Hormone Deficiency 46 20.160
6
SPT006 Septooptic Dysplasia 62 19.380
7
NRL016 Neural Tube Defects 81 15.906
8
P HYP024 Hypoparathyroidism 55 15.797
9
c 46X081 46,xx Sex Reversal 33 14.093
10
ISL003 Isolated Growth Hormone Deficiency 57 13.821
11
PTT001 Pituitary Hypoplasia 34 13.468
12
HYP611 Hypoparathyroidism, X-Linked 30 13.044
13
P MCR010 Microcephaly 60 12.029
14
P GND004 Gonadal Dysgenesis 47 11.759
15
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 11.243
16
P STR020 Strabismus 56 11.243
17
P SNS001 Sensorineural Hearing Loss 59 11.243
18
P HYP077 Hypertrichosis 46 11.065
19
BRJ001 Borjeson-Forssman-Lehmann Syndrome 50 10.646
20
P RTT002 Rett Syndrome 79 10.413
21
LMB002 Lambert-Eaton Myasthenic Syndrome 52 10.413
22
CRY035 Cryptorchidism, Unilateral or Bilateral 58 10.266
23
P 46X052 46,xx Sex Reversal 1 54 10.133
24
HYP025 Hyperphosphatemia 48 9.851
25
ISL125 Isolated Growth Hormone Deficiency Type Iii 37 9.471
26
c 46X082 46,xy Sex Reversal 52 8.874
27
P HLP001 Holoprosencephaly 69 8.652
28
NNC019 Non-Acquired Panhypopituitarism 19 8.154
29
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 35 8.154
30
PTT009 Pituitary Gland Disease 53 7.761
31
DSS008 Disease of Mental Health 74 7.656
32
P ANR048 Aniridia 1 64 7.528
33
P KLL001 Kallmann Syndrome 65 7.528
34
CMP097 Complex Chromosomal Rearrangement 23 6.966
35
c DVL028 Developmental and Epileptic Encephalopathy 8 37 6.966
36
c MCR241 Microphthalmia, Syndromic 3 55 6.966
37
CHN054 Chondrodysplasia, Blomstrand Type 52 6.966
38
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 5.260
39
NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11 4.586
40
CNG608 Congenital Hypopituitarism 29 4.357
41
EMB004 Embryonal Carcinoma 56 3.882
42
OST159 Osteogenic Sarcoma 66 3.347
43
P INF032 Infertility 57 3.098
44
c HMP004 Hemophilia B 68 3.024
45
P HMP007 Hemophilia 52 3.024
47
c LKM061 Leukemia, Acute Myeloid 83 2.838
48
GLB002 Glioblastoma 67 2.828
49
HLX001 Helix Syndrome 48 2.755
50
P DSR090 Disorder of Sexual Development 44 2.712
51
P SCL018 Scoliosis 57 2.605
52
SQM006 Squamous Cell Carcinoma 60 2.599
53
P HPT023 Hepatocellular Carcinoma 96 2.516
54
P OVR082 Overgrowth Syndrome 49 2.511
55
END057 Endometrial Cancer 72 2.429
56
GLL048 Glial Tumor 52 2.429
57
AZS001 Azoospermia 45 2.429
58
GLM045 Glioma 63 2.429
59
P KBK002 Kabuki Syndrome 1 65 2.298
60
P OVR042 Ovarian Cancer 88 2.241
61
P GST053 Gastric Cancer 83 2.241
62
P HYP040 Hypospadias 51 2.241
63
OVR094 Ovarian Epithelial Cancer 39 2.241
64
PTT041 Pituitary Stalk Interruption Syndrome 54 2.232
65
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 2.139
66
c ATS007 Autism Spectrum Disorder 72 2.139
67
P HYD006 Hydrocephalus 61 2.139
68
P MLN007 Male Infertility 56 2.028
69
P ATS364 Autism 69 1.965
70
PRM013 Premature Menopause 58 1.954
71
FRY006 Fryns Microphthalmia Syndrome 52 1.908
72
MYL020 Myelomeningocele 51 1.908
73
c 46X059 46,xx Sex Reversal 4 23 1.908
74
HRM002 Hermaphroditism 35 1.908
75
PNS014 Penis Agenesis 36 1.908
76
MCR013 Microphthalmia 60 1.776
77
c CNG216 Congenital Hydrocephalus 53 1.776
78
PTR032 Peters-Plus Syndrome 63 1.625
79
SLT005 Solitary Median Maxillary Central Incisor 49 1.625
80
CLB010 Coloboma of Macula 53 1.625
81
P AGN002 Agnosia 54 1.625
82
HYP080 Hypogonadism 50 1.487
83
SKL017 Skeletal Dysplasias 41 1.446
84
c MCR263 Microphthalmia, Syndromic 1 48 1.446
85
LRW001 Leri-Weill Dyschondrosteosis 43 1.446
86
ODN023 Odontochondrodysplasia 67 1.446
87
LNG040 Langer Mesomelic Dysplasia 36 1.446
88
DGR001 Digeorge Syndrome 62 1.446
89
STT041 Stuttering 52 1.446
90
SPC005 Speech Disorder 45 1.446
91
P MYL006 Myeloid Leukemia 61 1.446
92
P LKM002 Leukemia 67 1.446
93
P SCL047 Sclerocornea 32 1.446
94
CLF027 Cleft Palate, Isolated 64 1.392
95
c RNL122 Renal Hypodysplasia/aplasia 3 44 1.392
96
MLT163 Multiple Pterygium Syndrome, Escobar Variant 64 1.392
97
PLM070 Pulmonic Stenosis 49 1.392
98
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.392
99
PCT003 Pectus Excavatum 46 1.392
100
PLM041 Pulmonary Valve Stenosis 50 1.392
101
PNC001 Pancytopenia 53 1.392
102
TNG004 Tongue Disease 43 1.392
103
CHR525 Chromosome Xq26.3 Duplication Syndrome 37 1.377
104
GGN002 Gigantism 33 1.377
105
OPT070 Optic Nerve Hypoplasia, Bilateral 56 1.257
106
XLN215 X-Linked Congenital Generalized Hypertrichosis 16 1.213
107
P HYP730 Hypogonadotropic Hypogonadism 53 1.124
108
CHR074 Choriocarcinoma 46 1.124
109
TRP005 Trophoblastic Neoplasm 38 1.124
110
GST052 Gestational Choriocarcinoma 35 1.124
111
SPN186 Spinal Cord Injury 61 0.974
112
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 45 0.974
113
P RHB003 Rhabdomyosarcoma 66 0.974
114
P ALC033 Alcohol Use Disorder 61 0.974
115
P OLG002 Oligodendroglioma 66 0.974
116
P HYP086 Hypothyroidism 69 0.974
117
ANP009 Anaplastic Oligodendroglioma 41 0.974
118
P DBT005 Diabetes Insipidus 54 0.795
119
P THL005 Thalassemia 56 0.795
120
c 46X048 46,xx Sex Reversal 2 27 0.795
121
P FRG001 Fragile X Syndrome 70 0.795
122
c ALP101 Alpha-Thalassemia 62 0.795
123
GLC042 Glucocorticoid Deficiency 1 50 0.795
124
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.795
125
HYP780 Hypoadrenocorticism, Familial 61 0.795
126
GYN001 Gynecomastia 47 0.795
127
PRP016 Paraplegia 52 0.795
128
INF021 Infant Gynecomastia 30 0.795
129
ESP020 Esophageal Atresia 60 0.795
130
QDR001 Quadriplegia 50 0.795
131
P CRB059 Cerebellar Degeneration 36 0.795
132
SXL003 Sexual Disorder 49 0.651
133
ESP021 Esophageal Cancer 83 0.574
134
ESP027 Esophagus Squamous Cell Carcinoma 45 0.574
135
P PNC035 Pancreatic Cancer 86 0.573
136
SHH001 Sheehan Syndrome 45 0.562
137
ADR022 Adrenomyeloneuropathy 39 0.562
138
SPS019 Spastic Paraparesis 38 0.562
139
P RRT020 Rare Tumor 39 0.562
140
c NYS017 Nystagmus 1, Congenital, X-Linked 30 0.562
141
UBQ002 Ubiquitin-Activating Enzyme, Y-Linked 9 0.562
142
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.562
143
ADR007 Adrenoleukodystrophy 73 0.562
144
c NYS012 Nystagmus 5, Congenital, X-Linked 24 0.562
145
c 46X049 46,xy Sex Reversal 2 49 0.562
146
LBS001 Lubs X-Linked Mental Retardation Syndrome 50 0.562
147
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64 0.562
148
ANR007 Anorexia Nervosa 60 0.562
149
c PRM196 Premature Ovarian Failure 1 59 0.562
150
PPL052 Papillomatosis, Confluent and Reticulated 34 0.562
151
ISL114 Isolated Growth Hormone Deficiency, Type Ii 39 0.562
152
P OCL001 Ocular Albinism 48 0.562
153
FTL006 Fetal Alcohol Spectrum Disorder 43 0.562
154
P SYN012 Synpolydactyly 38 0.562
155
c CNG006 Congenital Hypothyroidism 63 0.562
156
P PRV002 Periventricular Nodular Heterotopia 52 0.562
157
P CNG010 Congenital Stationary Night Blindness 56 0.562
158
NCL006 Nicolaides-Baraitser Syndrome 46 0.562
159
CHR103 Charge Syndrome 66 0.562
160
P PRD006 Prader-Willi Syndrome 61 0.562
161
ERL051 Early Response to Neural Induction Gene 8 0.562
162
PTT045 Pituitary Hormone Deficiency, Combined, 1 37 0.562
163
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.562
164
BLC001 Blue Cone Monochromacy 45 0.562
165
ISL014 Isolated Growth Hormone Deficiency, Type Ia 54 0.562
166
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 0.562
167
P MDL005 Medulloblastoma 75 0.562
168
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45 0.562
169
P MTP001 Metaphyseal Dysplasia 38 0.562
170
P MYP006 Myopia 56 0.562
171
ACH005 Achalasia 55 0.562
172
47X002 47,xyy 48 0.562
173
SVR001 Severe Acute Respiratory Syndrome 67 0.562
174
ACT084 Acute Stress Disorder 54 0.562
175
OST012 Osteoarthritis 77 0.562
176
P NGH001 Night Blindness 52 0.562
177
P CRN024 Corneal Disease 44 0.562
178
P LNG064 Lung Cancer Susceptibility 3 70 0.562
179
P GRV001 Graves' Disease 55 0.562
180
P ADN016 Adenocarcinoma 63 0.562
181
CCN002 Cocaine Abuse 49 0.562
182
P SBS003 Substance Abuse 54 0.562
183
P PLY019 Polyneuropathy 52 0.562
184
PST028 Post-Traumatic Stress Disorder 59 0.562
185
ALB002 Albinism 47 0.562
186
OCL016 Ocular Albinism, X-Linked 24 0.562
188
PTH003 Pathologic Nystagmus 52 0.562
189
RFR003 Refractive Error 41 0.562
190
HYD005 Hydrocele 46 0.562
191
HYP056 Hypoglycemia 65 0.562
192
NNT017 Neonatal Adrenoleukodystrophy 54 0.562
193
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25 0.562
194
SX2004 Sox2 Disorder 13 0.562
195
P HYP265 Hypotonia 42 0.562
196
PTT037 Pituitary Tumors 44 0.562
197
c CNT101 Central Congenital Hypothyroidism 36 0.562
198
LYM043 Lymphocytic Hypophysitis 31 0.562
199
PRN032 Paraneoplastic Cerebellar Degeneration 25 0.562
Content
Loading form....