Search results for pitx2

347 hits were found for pitx2

# Family MCID Name MIFTS Score
1
P AXN002 Axenfeld-Rieger Syndrome 62 55.684
2
c AXN009 Axenfeld-Rieger Syndrome, Type 1 48 49.672
3
c ANT071 Anterior Segment Dysgenesis 4 48 47.454
4
RNG003 Ring Dermoid of Cornea 36 43.097
5
PTR032 Peters-Plus Syndrome 63 35.211
6
P ANT088 Anterior Segment Dysgenesis 53 27.169
7
P CTR002 Cataract 59 23.031
8
c AXN010 Axenfeld-Rieger Syndrome, Type 3 47 19.564
9
c ANT077 Anterior Segment Dysgenesis 1 46 19.271
10
c FML001 Familial Atrial Fibrillation 65 18.120
11
P ATR011 Atrial Fibrillation 66 14.950
12
P HRT032 Heart Disease 84 14.490
13
INT323 Intraocular Pressure Quantitative Trait Locus 63 12.615
14
c ANT085 Anterior Segment Dysgenesis 5 44 12.000
15
P AST005 Asthma 76 11.030
16
TTH002 Tooth Agenesis 61 10.956
17
c ATR026 Atrial Fibrillation, Familial, 1 21 10.471
18
MCR013 Microphthalmia 60 10.295
19
P TTR001 Tetralogy of Fallot 69 10.295
20
CLF027 Cleft Palate, Isolated 64 10.083
21
FCH001 Fuchs' Endothelial Dystrophy 48 9.878
22
P CRN249 Cornea Plana 30 9.849
23
INT060 Intestinal Atresia 40 9.724
24
P MCR010 Microcephaly 59 9.724
25
P HYP083 Hypopituitarism 52 9.337
26
P EYD002 Eye Disease 57 9.183
27
P NNN008 Noonan Syndrome 1 76 9.131
28
KRT019 Keratitis, Hereditary 66 9.006
29
P ANR048 Aniridia 1 66 8.394
30
DBL002 Double Outlet Right Ventricle 57 8.031
31
c ERL012 Early-Onset Glaucoma 23 7.996
32
RGH009 Right Atrial Isomerism 57 7.792
33
CLB010 Coloboma of Macula 53 7.779
34
CLB026 Colobomatous Microphthalmia 46 7.704
35
c PRM032 Primary Congenital Glaucoma 40 7.657
36
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 7.621
37
P VSC013 Visceral Heterotaxy 53 7.560
38
P PRS062 Persistent Hyperplastic Primary Vitreous 47 7.512
39
UMB002 Umbilical Hernia 46 7.485
40
c GLC092 Glaucoma, Primary Open Angle 61 7.428
41
c AXN012 Axenfeld-Rieger Syndrome, Type 2 32 7.291
42
P SCL047 Sclerocornea 32 7.240
43
c OTP007 Otopalatodigital Syndrome, Type Ii 56 7.211
44
c GLC097 Glaucoma 3, Primary Congenital, a 57 6.699
45
GLL028 Gillespie Syndrome 52 6.648
46
P JVN008 Juvenile Glaucoma 50 6.618
47
KRT010 Kartagener Syndrome 49 6.618
48
SPT006 Septooptic Dysplasia 62 6.618
49
HRT011 Heart Septal Defect 49 6.618
50
P CRN024 Corneal Disease 43 6.585
51
P ATR010 Atrial Heart Septal Defect 58 6.585
52
P HLP001 Holoprosencephaly 69 6.545
53
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53 6.493
54
P ORF002 Orofacial Cleft 42 6.493
56
MGL003 Megalocornea 47 6.368
57
VLC001 Velocardiofacial Syndrome 57 6.368
58
c MCR261 Microphthalmia, Syndromic 2 50 6.368
59
PRN038 Prune Belly Syndrome 55 6.368
60
P ATR001 Atrioventricular Septal Defect 55 6.368
61
IRS003 Iris Disease 31 6.368
62
ACQ001 Acquired Color Blindness 31 6.368
63
HYD007 Hydrophthalmos 35 6.368
64
HRT008 Heart Conduction Disease 44 6.368
65
P PRM011 Primary Ciliary Dyskinesia 69 6.368
66
P PRS040 Prostate Cancer 95 3.021
67
CRD223 Cardiac Arrhythmia 63 2.307
68
SQM006 Squamous Cell Carcinoma 59 1.880
69
P BRS047 Breast Cancer 97 1.839
70
P OVR042 Ovarian Cancer 88 1.804
71
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.637
72
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.637
73
P LNG021 Lung Occult Small Cell Carcinoma 20 1.637
74
WLF001 Wolff-Parkinson-White Syndrome 63 1.590
75
P ADN016 Adenocarcinoma 63 1.511
76
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.462
77
PTT001 Pituitary Hypoplasia 34 1.462
78
P KDN017 Kidney Cancer 60 1.437
79
P VNT002 Ventricular Septal Defect 58 1.437
80
P HYP086 Hypothyroidism 69 1.410
81
ADN018 Adenoma 58 1.382
82
P MSC005 Muscular Dystrophy 66 1.353
83
PLY150 Polykaryocytosis Inducer 29 1.305
84
P SHR029 Short Syndrome 58 1.305
85
PTT037 Pituitary Tumors 44 1.305
86
PRS129 Prostatic Hyperplasia, Benign 48 1.270
87
PRS021 Prostatic Adenoma 43 1.270
88
PRS045 Prostatic Hypertrophy 52 1.270
89
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.252
90
AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 17 1.233
91
P OMP004 Omphalocele 47 1.233
92
P OPN001 Open-Angle Glaucoma 55 1.178
93
APP008 Appendicitis 62 1.168
94
P HYD006 Hydrocephalus 63 1.144
95
P LNG064 Lung Cancer Susceptibility 3 70 1.137
96
P SCK002 Sick Sinus Syndrome 55 1.092
97
HLX001 Helix Syndrome 47 1.076
98
OVR059 Ovary Adenocarcinoma 49 1.076
99
P HYP076 Hyperthyroidism 53 1.076
100
c BRD017 Bardet-Biedl Syndrome 5 38 1.060
101
DGR001 Digeorge Syndrome 62 1.060
102
SNT005 Sinoatrial Node Disease 47 1.060
103
P BRD002 Bardet-Biedl Syndrome 66 1.043
104
ENP001 Enophthalmos 40 1.043
105
P PTT006 Pituitary Adenoma 55 1.043
106
P PNC035 Pancreatic Cancer 86 1.035
107
CLR109 Colorectal Adenocarcinoma 50 1.007
108
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.007
109
ATR057 Atrioventricular Block 54 1.007
110
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.987
111
c SML038 Small Cell Cancer of the Lung 69 0.987
113
c PCH010 Pachyonychia Congenita 3 43 0.967
114
c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27 0.967
115
CHR103 Charge Syndrome 65 0.946
116
c BRN108 Branchiootic Syndrome 1 63 0.946
117
P STR020 Strabismus 56 0.946
118
P OVR049 Ovarian Disease 50 0.946
119
P EHL001 Ehlers-Danlos Syndrome 57 0.946
120
MCH006 Mechanical Strabismus 40 0.946
121
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.923
122
CNT061 Conotruncal Heart Malformations 66 0.923
123
VLV047 Volvulus of Midgut 55 0.923
124
HND015 Hand Skill, Relative 29 0.923
125
THY029 Thyroid Carcinoma 54 0.923
126
P MYS005 Myositis 56 0.898
127
MYS001 Myositis Ossificans 44 0.898
128
UNV002 Univentricular Heart 26 0.898
129
RTN017 Retinal Detachment 60 0.872
130
P CRN276 Corneal Endothelial Dystrophy 52 0.872
131
LRW001 Leri-Weill Dyschondrosteosis 43 0.872
132
P HPT023 Hepatocellular Carcinoma 95 0.872
133
NRN004 Neuroendocrine Tumor 55 0.872
134
CRN027 Corneal Neovascularization 47 0.872
135
c RTN041 Retinitis Pigmentosa 11 43 0.872
136
c CRN279 Cornea Plana 1, Autosomal Dominant 19 0.842
137
INS024 Insulin-Like Growth Factor I 77 0.842
138
P CRB045 Cerebellar Hypoplasia 40 0.842
139
INT395 Intracranial Meningioma 48 0.842
140
c CRN280 Cornea Plana 2, Autosomal Recessive 24 0.842
141
AML029 Ameloblastoma 46 0.842
142
HYP748 Hypertelorism 46 0.842
143
P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36 0.842
144
P OCL013 Oculodentodigital Dysplasia 67 0.842
145
P DMN002 Dementia 65 0.842
146
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.842
147
MNN043 Meningioma, Familial 79 0.842
148
SCR001 Secretory Meningioma 40 0.842
149
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.842
150
48X005 48,xyyy 39 0.842
151
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.809
152
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 0.809
153
TLC001 Telecanthus 34 0.809
154
CRB039 Cerebrovascular Disease 65 0.809
155
BLN008 Blind Hypotensive Eye 16 0.809
156
MSC157 Muscular Dystrophy, Duchenne Type 79 0.809
157
AML004 Ameloblastic Carcinoma 39 0.809
158
P VTR007 Vitreoretinopathy 45 0.809
159
PPL052 Papillomatosis, Confluent and Reticulated 34 0.769
160
c PRC016 Pre-Eclampsia 64 0.717
161
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.717
162
c HYD064 Hydrocephalus, Congenital, 1 51 0.717
163
STR094 Stromme Syndrome 46 0.717
164
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.717
165
P SPN046 Spinal Muscular Atrophy 62 0.717
166
P LTR001 Lateral Sclerosis 58 0.717
167
P ECL001 Eclampsia 52 0.717
168
P PLY011 Polycystic Ovary Syndrome 57 0.717
169
P MSC003 Muscular Atrophy 52 0.717
170
4Q2002 4q25 Proximal Deletion Syndrome 4 0.717
171
P FNC044 Fanconi Anemia, Complementation Group C 56 0.592
172
BNG077 Benign Idiopathic Neonatal Seizures 22 0.515
173
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.484
174
P CLR023 Colorectal Cancer 100 0.451
175
HTR003 Heterotaxy 44 0.451
176
STS002 Situs Inversus 44 0.414
177
c WLM013 Wilms Tumor 1 65 0.375
178
ISL011 Isolated Aniridia 37 0.375
179
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.353
180
HRW001 Hair Whorl 35 0.331
181
DXT002 Dextrocardia with Situs Inversus 44 0.331
182
STR067 Stroke, Ischemic 79 0.306
183
PTH003 Pathologic Nystagmus 52 0.306
184
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.279
185
CRN167 Caronte 8 0.279
186
P BLD134 Bladder Cancer 79 0.250
187
c ANR046 Aniridia 3 18 0.250
188
c BNG093 Benign Teratoma 39 0.250
189
CNG034 Congestive Heart Failure 69 0.250
190
MTR010 Mature Teratoma 40 0.250
191
P CYS017 Cystic Teratoma 41 0.250
192
P MYP004 Myopathy 67 0.250
193
SYN148 Syndromic Aniridia 5 0.250
194
FRY006 Fryns Microphthalmia Syndrome 52 0.216
195
P KRT007 Keratoconus 50 0.216
196
P PLY014 Polycystic Kidney Disease 71 0.216
197
P FML011 Familial Adenomatous Polyposis 71 0.216
198
P SCL018 Scoliosis 57 0.216
199
c ATR027 Atrial Fibrillation, Familial, 5 14 0.216
200
P CRN026 Corneal Edema 42 0.216
201
c GLC041 Glaucoma 1, Open Angle, a 34 0.216
202
GRW007 Growth Hormone Deficiency 47 0.216
203
MSC086 Mesocardia 14 0.216
204
HLC007 Helicobacter Pylori Infection 67 0.177
205
c GLC100 Glaucoma 1, Open Angle, D 29 0.177
206
CRV035 Cervical Cancer 72 0.177
207
P GST053 Gastric Cancer 82 0.177
208
P OST135 Osteogenesis Imperfecta, Type I 60 0.177
209
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.177
210
P MYC007 Myocardial Infarction 69 0.177
211
BRT054 Brittle Bone Disorder 74 0.177
212
DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 33 0.177
213
OPT070 Optic Nerve Hypoplasia, Bilateral 55 0.177
214
CRD132 Cardiac Conduction Defect 59 0.177
215
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52 0.177
216
c ANT084 Anterior Segment Dysgenesis 3 36 0.177
217
c CRD163 Cardiofaciocutaneous Syndrome 2 37 0.177
218
TTH030 Teeth, Supernumerary 32 0.177
219
ALT003 Alternating Exotropia 33 0.177
220
EXT022 Exotropia 42 0.177
221
HYP066 Hyperglycemia 60 0.177
222
TRN015 Transient Cerebral Ischemia 62 0.177
223
EMB004 Embryonal Carcinoma 55 0.177
224
HRT012 Heart Valve Disease 53 0.177
225
CNG608 Congenital Hypopituitarism 29 0.177
226
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.177
227
CRV002 Cervix Uteri Carcinoma in Situ 48 0.177
228
CLF001 Cleft Lip 54 0.177
229
P BRT047 Brittle Cornea Syndrome 42 0.177
230
CRV045 Cervical Intraepithelial Neoplasia 38 0.177
231
CHR178 Chromosomal Triplication 34 0.177
232
47X002 47,xyy 48 0.177
233
P RRT020 Rare Tumor 39 0.177
234
c ORF037 Orofaciodigital Syndrome I 59 0.125
235
c GLC083 Glaucoma 3, Primary Infantile, B 32 0.125
236
LRN002 Laron Syndrome 62 0.125
237
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 0.125
238
P PLM182 Pulmonary Hypoplasia, Primary 32 0.125
239
P RTN008 Retinitis Pigmentosa 79 0.125
240
RHB024 Rhabdomyosarcoma 2 65 0.125
241
DWN001 Down Syndrome 70 0.125
242
c ANT086 Anterior Segment Dysgenesis 2 47 0.125
243
TRC062 Tricuspid Atresia 54 0.125
244
c HTR009 Heterotaxy, Visceral, 2, Autosomal 27 0.125
245
c ANR047 Aniridia 2 26 0.125
246
P PLM037 Pulmonary Hypertension 69 0.125
247
P FTL001 Fetal Alcohol Syndrome 55 0.125
248
P HYP730 Hypogonadotropic Hypogonadism 54 0.125
249
P SNS001 Sensorineural Hearing Loss 59 0.125
250
OST003 Osteonecrosis 61 0.125
251
FBR009 Fibrous Dysplasia 48 0.125
252
ANT039 Antisynthetase Syndrome 55 0.125
253
ANK020 Ankyloglossia with or Without Tooth Anomalies 46 0.125
254
P CNR004 Cone-Rod Dystrophy 2 75 0.125
255
c DNT051 Dentin Dysplasia, Type I 33 0.125
256
P LNG032 Lung Cancer 98 0.125
257
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.125
258
P SLP006 Sleep Apnea 69 0.125
259
ORL015 Oral Squamous Cell Carcinoma 43 0.125
261
FML037 Female Breast Cancer 51 0.125
262
P CND005 Cone Dystrophy 46 0.125
263
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.125
264
P CLD001 Cleidocranial Dysplasia 64 0.125
265
c EXS019 Exostoses, Multiple, Type I 54 0.125
266
NLP001 Nail-Patella Syndrome 63 0.125
267
c OPT053 Optic Atrophy 1 62 0.125
268
MCC012 Mccune-Albright Syndrome 69 0.125
269
P PRT008 Proteus Syndrome 63 0.125
270
NRL016 Neural Tube Defects 81 0.125
271
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 39 0.125
272
PTT043 Pituitary Hormone Deficiency, Combined, 6 19 0.125
273
c MJR024 Major Affective Disorder 9 40 0.125
274
MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 44 0.125
275
c HRM007 Hermansky-Pudlak Syndrome 4 45 0.125
276
c MJR022 Major Affective Disorder 8 37 0.125
277
c LYS020 Loeys-Dietz Syndrome 5 49 0.125
278
BLL004 Bullous Keratopathy 47 0.125
279
c DPH024 Diaphragmatic Hernia, Congenital 64 0.125
280
INT030 Intracranial Aneurysm 55 0.125
281
P ECT005 Ectropion 41 0.125
282
P MYP006 Myopia 55 0.125
283
P ACH003 Achromatopsia 62 0.125
284
GLB002 Glioblastoma 67 0.125
285
END041 Endometrial Adenocarcinoma 63 0.125
286
P INF032 Infertility 60 0.125
287
P MVM001 Movement Disease 61 0.125
288
ADN009 Adenosquamous Carcinoma 49 0.125
289
NTR005 Nutritional Deficiency Disease 60 0.125
290
TST018 Testicular Yolk Sac Tumor 39 0.125
291
KRT008 Keratopathy 46 0.125
292
P VSC007 Vascular Disease 62 0.125
293
P END039 Endodermal Sinus Tumor 42 0.125
294
HYP080 Hypogonadism 49 0.125
295
P CRN025 Corneal Dystrophy 49 0.125
296
PRM024 Primary Angle-Closure Glaucoma 38 0.125
297
c DLT002 Dilated Cardiomyopathy 79 0.125
298
P HYP061 Hypertrophic Cardiomyopathy 69 0.125
299
P LKM002 Leukemia 66 0.125
300
TST014 Testicular Cancer 51 0.125
301
P RHB003 Rhabdomyosarcoma 66 0.125
302
CHR074 Choriocarcinoma 46 0.125
303
P FBR017 Fibrosarcoma 55 0.125
304
P SKN015 Skin Carcinoma 71 0.125
305
P BPL003 Bipolar Disorder 56 0.125
306
P TRT010 Teratoma 50 0.125
307
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 66 0.125
308
HTR014 Heterotaxy, Visceral, 1, X-Linked 39 0.125
309
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.125
310
c LKM061 Leukemia, Acute Myeloid 83 0.125
311
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.125
312
AND001 Anodontia 42 0.125
313
SMN007 Seminoma 42 0.125
314
LKP003 Leukoplakia 39 0.125
315
ODN006 Odontoma 29 0.125
316
ATR024 Atrial Fibrillation and Stroke 22 0.125
317
P MYL006 Myeloid Leukemia 60 0.125
318
P THY032 Thyroiditis 56 0.125
319
FSC004 Fasciitis 49 0.125
320
LNG099 Lung Disease 62 0.125
321
P DNT009 Dentin Dysplasia 40 0.125
322
P CNG024 Congenital Nystagmus 35 0.125
323
P KDN018 Kidney Disease 72 0.125
324
CHR249 Chromosome 4q Deletion 14 0.125
325
PSD016 Pseudosarcomatous Fibromatosis 36 0.125
326
END086 End Stage Renal Disease 54 0.125
327
P BCL017 B-Cell Lymphoma 57 0.125
328
HYP056 Hypoglycemia 65 0.125
329
ALB002 Albinism 47 0.125
330
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.125
331
1Q2003 1q21.1 Recurrent Microdeletion 22 0.125
332
EXN003 Exencephaly 30 0.125
333
PLG004 Plagiocephaly 40 0.125
335
AMB001 Amebiasis 56 0.125
336
OCL006 Ocular Hypertension 53 0.125
337
PRL048 Proliferative Verrucous Leukoplakia 29 0.125
338
c PSD047 Pseudo-Turner Syndrome 52 0.125
339
CLF056 Cleft Lip with or Without Cleft Palate 43 0.125
340
ORF053 Orofacial Clefting Syndrome 31 0.125
341
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.125
342
CMP097 Complex Chromosomal Rearrangement 23 0.125
343
OST115 Osteonecrosis of the Jaw 40 0.125
344
KRT063 Keratocystic Odontogenic Tumor 39 0.125
345
ISL131 Isolated Foveal Hypoplasia 12 0.125
346
P PLY188 Polyendocrinopathy 29 0.125
347
P SKL032 Skeletal Muscle Disease 25 0.125
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