Search results for SALL4

350 hits were found for SALL4

# Family MCID Name MIFTS Score
1
DNR002 Duane-Radial Ray Syndrome 53 55.813
2
IVC001 Ivic Syndrome 40 38.160
4
P DNR001 Duane Retraction Syndrome 53 21.931
5
HLT001 Holt-Oram Syndrome 66 12.279
6
MYL009 Myelodysplastic Syndrome 67 11.923
7
HPT022 Hepatoblastoma 54 11.144
8
HMF006 Hemifacial Microsomia 55 10.849
9
P EPT012 Epithelioid Sarcoma 41 10.660
10
P VNT002 Ventricular Septal Defect 58 10.544
11
EPT003 Epithelioid Trophoblastic Tumor 29 10.167
12
PLC003 Placental Site Trophoblastic Tumor 45 10.167
13
SYN005 Synostosis 43 10.137
14
P RDL002 Radioulnar Synostosis 48 10.137
15
P TWN003 Townes-Brocks Syndrome 55 9.934
16
P END039 Endodermal Sinus Tumor 42 9.812
17
c BNG093 Benign Teratoma 39 9.481
18
WLF002 Wolf-Hirschhorn Syndrome 57 9.429
19
OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 7 8.315
20
OKH001 Okihiro Syndrome Due to a Point Mutation 6 8.315
21
P STR020 Strabismus 56 8.017
22
DYS101 Dysgerminoma 43 8.004
23
TKL001 Tukel Syndrome 52 7.943
24
SPR018 Spermatocytoma 34 7.763
25
GRM004 Germinoma 40 7.693
26
CRY035 Cryptorchidism, Unilateral or Bilateral 57 7.516
27
HPT079 Hepatoid Adenocarcinoma 39 7.126
28
CMB089 Combined Hepatocellular Carcinoma and Cholangiocarcinoma 29 6.975
29
MTR010 Mature Teratoma 40 6.859
30
GRM005 Germ Cell Cancer 46 6.859
31
MXD008 Mixed Germ Cell-Sex Cord Neoplasm 22 6.830
32
EMB002 Embryoma 37 6.830
33
SMR006 Smarca4-Deficient Sarcoma of Thorax 27 6.830
34
OCL011 Ocular Motility Disease 45 6.756
35
OVR112 Ovarian Germ Cell Cancer 41 6.704
36
EXT022 Exotropia 42 6.704
37
OVR051 Ovarian Endodermal Sinus Tumor 36 6.704
38
CMB001 Combined Thymoma 14 6.704
39
FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 43 6.579
40
P CNT036 Central Nervous System Germ Cell Tumor 26 6.579
41
c MLG081 Malignant Teratoma 37 6.579
42
EXT001 Extragonadal Seminoma 26 6.579
43
OVR056 Ovarian Primitive Germ Cell Tumor 23 6.579
44
CHR076 Choriocarcinoma of the Testis 33 6.579
45
TST017 Testicular Malignant Germ Cell Cancer 18 6.579
46
DNC009 Diencephalic Astrocytoma 25 6.579
47
GRM001 Germ Cell and Embryonal Cancer 28 6.579
48
DNC002 Diencephalic Neoplasm 26 6.579
49
MXD025 Mixed Germ Cell Cancer 23 6.579
50
PRT015 Partial Third-Nerve Palsy 36 6.579
51
ACC003 Accommodative Esotropia 24 6.579
52
EST005 Esotropia 43 6.579
53
HYP048 Hypotropia 26 6.579
54
c LKM061 Leukemia, Acute Myeloid 83 4.841
55
P HPT023 Hepatocellular Carcinoma 95 4.725
56
P MYL006 Myeloid Leukemia 60 3.874
57
P LKM002 Leukemia 65 3.512
58
P GST053 Gastric Cancer 82 3.477
59
c DNR003 Duane Retraction Syndrome 1 39 3.389
60
P TRT010 Teratoma 50 3.273
61
SQM006 Squamous Cell Carcinoma 59 2.989
62
TST018 Testicular Yolk Sac Tumor 38 2.939
63
GLM045 Glioma 62 2.513
64
GLL048 Glial Tumor 51 2.513
65
SMN007 Seminoma 42 2.422
66
FTL029 Fetal Thalidomide Syndrome 27 2.256
67
ISL019 Isolated Duane Retraction Syndrome 21 2.209
68
CHR074 Choriocarcinoma 46 2.052
69
P ADN016 Adenocarcinoma 63 2.035
70
CHL065 Cholangiocarcinoma 57 2.016
71
INT079 Intrahepatic Cholangiocarcinoma 51 2.016
72
c BRN108 Branchiootic Syndrome 1 63 1.966
73
P LYM118 Lymphoma 66 1.948
74
GRM010 Germ Cells Tumors 33 1.887
75
P BRS047 Breast Cancer 97 1.820
76
SVR004 Severe Combined Immunodeficiency 70 1.729
77
GST040 Gastric Adenocarcinoma 66 1.646
78
c LKM063 Leukemia, Chronic Myeloid 70 1.623
79
EMB004 Embryonal Carcinoma 55 1.511
80
END057 Endometrial Cancer 76 1.487
81
CRV035 Cervical Cancer 72 1.475
82
P LNG032 Lung Cancer 98 1.463
83
c HPT016 Hepatitis B 62 1.451
84
RNL025 Renal Hypoplasia 46 1.443
85
P PNC035 Pancreatic Cancer 87 1.441
86
MCH006 Mechanical Strabismus 40 1.438
87
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.425
88
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.425
89
P CLR023 Colorectal Cancer 100 1.395
90
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 1.370
91
ACT119 Acute Promyelocytic Leukemia 62 1.341
92
c SML038 Small Cell Cancer of the Lung 68 1.341
93
HRT011 Heart Septal Defect 49 1.325
94
LVR012 Liver Cirrhosis 62 1.309
95
CLB010 Coloboma of Macula 53 1.293
96
TRP005 Trophoblastic Neoplasm 38 1.293
97
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.276
98
PRM013 Premature Menopause 57 1.258
99
P LKM062 Leukemia, Acute Lymphoblastic 69 1.234
100
TST010 Testicular Spermatocytic Seminoma 33 1.184
101
P PHC014 Phocomelia 23 1.156
102
GLB002 Glioblastoma 67 1.115
103
P BCL017 B-Cell Lymphoma 57 1.115
104
ANN002 Anencephaly 57 1.104
105
ORL015 Oral Squamous Cell Carcinoma 43 1.084
106
P RHB003 Rhabdomyosarcoma 66 1.084
107
ORL011 Oral Cancer 60 1.084
108
CYS009 Cystadenoma 42 1.068
109
P HMN010 Hemangioma 61 1.052
110
CRV038 Cervical Squamous Cell Carcinoma 56 1.052
111
P MLN008 Melanoma 75 1.052
112
P SPP010 Suppressor of Tumorigenicity 3 50 1.035
113
CLR030 Clear Cell Renal Cell Carcinoma 53 1.035
114
c ACT073 Acute Leukemia 59 1.035
115
DSM007 Desmoplastic Small Round Cell Tumor 54 1.035
116
GND001 Gonadoblastoma 42 1.017
117
AMN001 Amenorrhea 53 1.017
118
OST159 Osteogenic Sarcoma 66 0.998
119
P PLY006 Polydactyly 58 0.979
120
P ANP001 Anaplastic Large Cell Lymphoma 59 0.979
121
P STR021 Struma Ovarii 39 0.979
122
47X002 47,xyy 47 0.979
123
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 39 0.979
124
DFC004 Deficiency Anemia 74 0.959
125
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.959
126
P TTR001 Tetralogy of Fallot 69 0.959
127
LYM040 Lymphoblastic Lymphoma 53 0.959
128
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.959
129
c CHR418 Chronic Leukemia 48 0.959
130
CHR176 Chromophil Renal Cell Carcinoma 23 0.959
131
EXN003 Exencephaly 30 0.959
132
NRL016 Neural Tube Defects 80 0.937
133
P NSP012 Nasopharyngeal Carcinoma 60 0.937
134
DFF005 Diffuse Large B-Cell Lymphoma 55 0.937
135
IRN002 Iron Metabolism Disease 56 0.937
136
IRN001 Iron Deficiency Anemia 58 0.937
137
MCR013 Microphthalmia 59 0.937
138
RHB001 Rhabdoid Cancer 68 0.937
139
KRN002 Kearns-Sayre Syndrome 62 0.923
140
CHN065 Choanal Atresia, Posterior 48 0.914
141
c FNC027 Fanconi Anemia, Complementation Group a 80 0.914
142
EWN003 Ewing Sarcoma 69 0.914
143
CHR103 Charge Syndrome 65 0.914
144
c ART101 Aortic Valve Disease 2 65 0.914
145
NNL006 Non-Alcoholic Steatohepatitis 54 0.914
146
MYP002 Myoepithelial Carcinoma 45 0.914
147
SPN035 Spindle Cell Sarcoma 51 0.914
148
SRC014 Sarcoma 64 0.914
149
INF034 Infective Endocarditis 53 0.890
150
OPT070 Optic Nerve Hypoplasia, Bilateral 55 0.890
151
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.890
152
c FNC028 Fanconi Anemia, Complementation Group L 46 0.890
153
FRY006 Fryns Microphthalmia Syndrome 52 0.890
154
GST010 Gestational Trophoblastic Neoplasm 52 0.890
155
P GND004 Gonadal Dysgenesis 46 0.890
156
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.890
157
HRS011 Horseshoe Kidney 31 0.890
158
P DST002 Distal Arthrogryposis 63 0.871
159
P ATX030 Ataxia-Telangiectasia 80 0.863
160
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.863
161
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.863
162
P HRT032 Heart Disease 84 0.863
163
TRT001 Teratocarcinoma 41 0.863
164
TLN003 Telangiectasis 51 0.863
165
PTT001 Pituitary Hypoplasia 34 0.863
166
VLC001 Velocardiofacial Syndrome 57 0.833
167
ACT098 Acute Erythroid Leukemia 55 0.833
168
TST004 Testicular Lymphoma 38 0.833
169
48X005 48,xyyy 39 0.833
170
ANS023 Anus, Imperforate 56 0.800
171
c 46X051 46,xy Sex Reversal 1 38 0.800
172
P TRN020 Turner Syndrome 67 0.800
173
c 46X082 46,xy Sex Reversal 52 0.800
174
P ATR011 Atrial Fibrillation 66 0.760
175
ERM002 Ear Malformation 37 0.760
176
c THY107 Thymoma, Familial 42 0.760
177
P THY023 Thymoma 64 0.760
178
ALK024 Alkuraya-Kucinskas Syndrome 46 0.746
179
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.746
180
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.746
181
THR009 Thrombocytopenia-Absent Radius Syndrome 53 0.746
182
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 38 0.746
183
P THR014 Thrombocytopenia 66 0.746
184
CRN051 Craniofacial Microsomia 28 0.746
185
XLN215 X-Linked Congenital Generalized Hypertrichosis 19 0.746
186
THY022 Thymic Carcinoma 56 0.708
187
MDS018 Mediastinal Cancer 40 0.708
188
LRY018 Laryngeal Squamous Cell Carcinoma 47 0.582
189
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26 0.551
190
P RRT020 Rare Tumor 39 0.434
191
P PRS040 Prostate Cancer 95 0.416
192
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.416
193
LKP003 Leukoplakia 39 0.416
194
P TST021 Testicular Germ Cell Tumor 61 0.355
195
P END044 Endometriosis 62 0.355
196
MXD032 Mixed Germ Cell Tumor 24 0.355
197
P SML001 Small Cell Carcinoma 52 0.332
198
HLC007 Helicobacter Pylori Infection 67 0.332
199
CLR109 Colorectal Adenocarcinoma 50 0.332
200
P GLL018 Gallbladder Cancer 59 0.332
201
P CNR004 Cone-Rod Dystrophy 2 74 0.307
202
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 40 0.307
203
OVR058 Ovarian Small Cell Carcinoma 39 0.307
204
CRC021 Carcinosarcoma 62 0.307
205
MCR011 Microinvasive Gastric Cancer 41 0.307
206
NRN001 Neuroendocrine Carcinoma 47 0.307
207
P MLN007 Male Infertility 56 0.280
208
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.280
209
c LKM005 Leukemia, T-Cell, Chronic 33 0.280
210
PST092 Posttransplant Acute Limbic Encephalitis 29 0.280
211
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.251
212
RDL037 Radial Ray Deficiency, X-Linked 15 0.251
213
HLS003 Helsmoortel-Van Der Aa Syndrome 47 0.251
214
SPP007 Suppression Amblyopia 38 0.251
215
P ATR010 Atrial Heart Septal Defect 58 0.251
216
AMB002 Amblyopia 49 0.251
217
P INF032 Infertility 60 0.251
219
CHR178 Chromosomal Triplication 33 0.251
220
P ENC018 Encephalopathy 62 0.251
221
c DFN094 Deafness, Autosomal Dominant 28 31 0.217
222
c DNR004 Duane Retraction Syndrome 2 28 0.217
223
P PTS002 Ptosis 52 0.217
224
c ATS005 Autosomal Dominant Nonsyndromic Deafness 24 0.217
225
c MST023 Mesothelioma, Malignant 56 0.217
226
P OVR010 Ovarian Brenner Tumor 39 0.217
227
P CYS017 Cystic Teratoma 41 0.217
228
P BNG032 Benign Mesothelioma 53 0.217
229
MRK001 Merkel Cell Carcinoma 64 0.217
230
TBL003 Tubular Adenocarcinoma 40 0.217
231
CHL040 Cholangiolocellular Carcinoma 33 0.217
232
MLG079 Malignant Pleural Mesothelioma 42 0.217
233
SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 36 0.217
234
RFR003 Refractive Error 41 0.217
235
HYP266 Hypoxia 56 0.217
236
ATR057 Atrioventricular Block 54 0.177
237
VTR016 Vater/vacterl Association 50 0.177
238
PPL048 Papillorenal Syndrome 58 0.177
239
MYL069 Myeloma, Multiple 76 0.177
240
GST019 Gastrointestinal Stromal Tumor 78 0.177
241
c TWN011 Townes-Brocks Syndrome 1 34 0.177
242
BRW002 Brown's Tendon Sheath Syndrome 28 0.177
243
P DSR090 Disorder of Sexual Development 45 0.177
244
END011 Endometriosis of Ovary 40 0.177
245
P EMB005 Embryonal Rhabdomyosarcoma 53 0.177
246
INF021 Infant Gynecomastia 30 0.177
247
MCN001 Mucinous Adenocarcinoma 49 0.177
248
P ADN017 Adenofibroma 33 0.177
249
TST015 Testicular Disease 42 0.177
250
APP009 Appendix Adenocarcinoma 47 0.177
251
TST014 Testicular Cancer 51 0.177
252
GTR002 Goiter 52 0.177
253
P HYP040 Hypospadias 51 0.177
254
GYN001 Gynecomastia 48 0.177
255
VCT001 Vacterl Association 46 0.177
256
P CTR002 Cataract 59 0.177
257
SRT002 Sertoli Cell Tumor 38 0.177
258
P NRB001 Neuroblastoma 66 0.177
259
DCR010 Dicer1 Tumor Predisposition 31 0.177
261
GND015 Gonadal Germ Cell Tumor 13 0.177
262
CNG506 Congenital Amyoplasia 27 0.177
263
PRT213 Partial Duplication of Chromosome 19 11 0.177
264
P SCL018 Scoliosis 57 0.125
265
PRT251 Proteinuria, Chronic Benign 58 0.125
266
P PRG013 Paraganglioma 57 0.125
267
P OPT048 Opitz-Gbbb Syndrome 49 0.125
268
ING001 Inguinal Hernia 59 0.125
269
LRG014 Large Cell Neuroendocrine Carcinoma 44 0.125
270
c CNG513 Congenital Ptosis 43 0.125
271
c WLM013 Wilms Tumor 1 65 0.125
272
TRT017 Teratoma, Ovarian 28 0.125
273
P OVR042 Ovarian Cancer 88 0.125
274
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.125
275
FCT001 Factor Viii Deficiency 61 0.125
276
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.125
277
WLD004 Wildervanck Syndrome 28 0.125
278
c HMP029 Hemophilia a 69 0.125
279
ULN023 Ulnar Hypoplasia 25 0.125
280
P JVN014 Juvenile Polyposis Syndrome 65 0.125
281
LMY014 Leiomyoma, Uterine 55 0.125
282
TST025 Testicular Microlithiasis 29 0.125
283
SLT005 Solitary Median Maxillary Central Incisor 50 0.125
284
HYP748 Hypertelorism 46 0.125
285
CLF027 Cleft Palate, Isolated 64 0.125
286
EPD070 Epidermoid Cysts 35 0.125
287
ESP021 Esophageal Cancer 84 0.125
288
NLP001 Nail-Patella Syndrome 63 0.125
289
P LNG064 Lung Cancer Susceptibility 3 69 0.125
290
P BND020 Bone Disease 60 0.125
291
MNT001 Mantle Cell Lymphoma 65 0.125
292
NTM002 Nut Midline Carcinoma 44 0.125
293
P LTH003 Lethal Congenital Contracture Syndrome 40 0.125
294
P SNS001 Sensorineural Hearing Loss 60 0.125
295
IDH005 Idh-Wildtype Glioblastoma 12 0.125
296
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.125
297
SNN002 Sinonasal Undifferentiated Carcinoma 29 0.125
298
BRR014 Barrett Esophagus 66 0.125
299
P CRN037 Craniosynostosis 67 0.125
300
MYP001 Myoepithelioma 37 0.125
301
ACN001 Acinar Cell Carcinoma 44 0.125
302
P KLP003 Klippel-Feil Syndrome 47 0.125
303
P OVR106 Ovarian Clear Cell Carcinoma 42 0.125
304
ALT003 Alternating Exotropia 33 0.125
305
PRG009 Progressive Multifocal Leukoencephalopathy 58 0.125
306
KRT003 Keratinizing Squamous Cell Carcinoma 36 0.125
307
OVR109 Ovarian Germ Cell Teratoma 32 0.125
308
FCL012 Facial Paralysis 49 0.125
309
CNT019 Central Neurocytoma 46 0.125
310
P HYP086 Hypothyroidism 68 0.125
311
P MYP006 Myopia 55 0.125
312
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.125
313
SYN007 Synovitis 54 0.125
314
EXT025 Extragonadal Germ Cell Cancer 31 0.125
315
ADN009 Adenosquamous Carcinoma 49 0.125
316
P SYP003 Syphilis 59 0.125
317
BLD131 Bladder Urothelial Carcinoma 59 0.125
318
P HLP001 Holoprosencephaly 68 0.125
319
SRT003 Sertoli-Leydig Cell Tumor 38 0.125
320
PLC002 Plica Syndrome 35 0.125
321
ESP020 Esophageal Atresia 59 0.125
322
LMY002 Leiomyoma 51 0.125
323
P FCL005 Focal Segmental Glomerulosclerosis 57 0.125
324
END062 Endometrial Hyperplasia 47 0.125
325
P ERY036 Erythema Nodosum 49 0.125
326
P MCR010 Microcephaly 59 0.125
327
RTT004 Rete Testis Adenocarcinoma 25 0.125
328
P SLP005 Sleep Disorder 61 0.125
329
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.125
330
LNG031 Lung Benign Neoplasm 51 0.125
331
RTR003 Retroperitoneal Germ Cell Neoplasm 11 0.125
332
P ART034 Aortopulmonary Window 21 0.125
333
P NRC002 Narcolepsy 55 0.125
334
DXT001 Dextrocardia 54 0.125
335
P PLM034 Pulmonary Emphysema 58 0.125
336
FTT001 Fatty Liver Disease 61 0.125
337
P HMP007 Hemophilia 52 0.125
338
TST043 Testicular Seminoma 31 0.125
339
RTN123 Retinochoroidal Coloboma 19 0.125
340
SBM006 Submucosal Cleft Palate 14 0.125
341
EXP004 Exophthalmos 50 0.125
342
CHR254 Chromosome 5q Duplication 13 0.125
344
AML065 Amelia 29 0.125
345
P PRC019 Precocious Puberty 48 0.125
346
SLD011 Solid Pseudopapillary Carcinoma of Pancreas 29 0.125
347
P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 37 0.125
348
DYS073 Dysphagia 53 0.125
349
P OVR082 Overgrowth Syndrome 41 0.125
350
THY029 Thyroid Carcinoma 55 0.125
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