Search results for fgfr2

257 hits were found for fgfr2

# Family MCID Name MIFTS Score
1
BNT003 Bent Bone Dysplasia Syndrome 43 10.957
2
PFF001 Pfeiffer Syndrome 79 5.898
3
CRZ001 Crouzon Syndrome 68 5.614
4
APR006 Apert Syndrome 70 5.485
5
JCK001 Jackson-Weiss Syndrome 52 5.302
6
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 46 5.278
7
STH001 Saethre-Chotzen Syndrome 67 5.043
8
P CRN037 Craniosynostosis 68 4.691
9
P BRS047 Breast Cancer 96 4.304
10
P GST053 Gastric Cancer 83 4.204
11
LCR014 Lacrimoauriculodentodigital Syndrome 61 4.183
12
END057 Endometrial Cancer 74 3.900
13
ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 38 3.847
14
P LNG032 Lung Cancer 97 3.559
15
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 28 3.530
16
P PRS040 Prostate Cancer 97 3.304
17
P CLR023 Colorectal Cancer 98 3.289
18
SYN005 Synostosis 45 3.128
19
P ADN016 Adenocarcinoma 64 3.041
20
ANT003 Antley-Bixler Syndrome 47 3.041
21
P BLD134 Bladder Cancer 78 2.994
22
P PNC035 Pancreatic Cancer 84 2.957
23
EXP004 Exophthalmos 52 2.879
24
SQM006 Squamous Cell Carcinoma 60 2.790
25
P OVR042 Ovarian Cancer 89 2.778
26
LNG039 Lung Squamous Cell Carcinoma 65 2.778
27
P HYD006 Hydrocephalus 65 2.764
28
P STR020 Strabismus 56 2.720
29
END041 Endometrial Adenocarcinoma 63 2.662
30
GST040 Gastric Adenocarcinoma 70 2.518
31
HYP748 Hypertelorism 50 2.473
32
ACN002 Acanthosis Nigricans 60 2.460
33
ESP021 Esophageal Cancer 90 2.448
34
CLF027 Cleft Palate, Isolated 64 2.434
35
P HYP040 Hypospadias 51 2.373
36
UTR024 Uterine Carcinosarcoma 59 2.355
37
HYP042 Hypochondroplasia 59 2.336
38
FML352 Familial Scaphocephaly Syndrome 8 2.315
39
THY122 Thyroid Gland Cancer 58 2.290
40
CHL122 Cholesteatoma of Middle Ear 51 2.290
41
TRT001 Teratocarcinoma 46 2.290
42
CHR619 Chromosome 2q35 Duplication Syndrome 60 2.204
43
INT079 Intrahepatic Cholangiocarcinoma 50 2.158
44
SYN106 Syndromic Craniosynostosis 34 2.056
45
DYS018 Dysostosis 43 1.998
46
P EST001 Estrogen-Receptor Positive Breast Cancer 49 1.964
47
MNK003 Muenke Syndrome 59 1.945
48
RNL114 Renal Cell Carcinoma, Nonpapillary 78 1.923
49
ACH004 Achondroplasia 66 1.923
50
ANK001 Ankylosis 52 1.923
51
MYX005 Myxoid Liposarcoma 66 1.899
52
P BND020 Bone Disease 59 1.899
53
FBR086 Fibrolamellar Carcinoma 59 1.899
54
RDL002 Radioulnar Synostosis 50 1.899
55
HMR015 Humeroradial Synostosis 34 1.899
56
P HLP001 Holoprosencephaly 68 1.870
57
P CLD001 Cleidocranial Dysplasia 65 1.870
58
P PLR004 Pleuropulmonary Blastoma 65 1.870
59
MLT163 Multiple Pterygium Syndrome, Escobar Variant 64 1.870
60
PTR032 Peters-Plus Syndrome 62 1.870
61
P THN009 Thanatophoric Dysplasia, Type I 62 1.870
62
TTH002 Tooth Agenesis 61 1.870
63
P VNT002 Ventricular Septal Defect 60 1.870
64
P ECT006 Ectodermal Dysplasia 59 1.870
65
c ATS347 Autosomal Dominant Polycystic Kidney Disease 59 1.870
66
P PRK001 Porokeratosis 53 1.870
67
CLC006 Calcinosis 48 1.870
68
ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 47 1.870
69
P SYR001 Syringomyelia 46 1.870
70
DYS101 Dysgerminoma 45 1.870
71
LTM002 Luteoma 35 1.870
72
ACN010 Acanthoma 33 1.870
74
CHL065 Cholangiocarcinoma 67 1.637
75
RRC011 Rare Cancer of Corpus Uteri 39 1.617
76
HMF009 Hemifacial Hyperplasia 46 1.413
77
RRH024 Rare Head and Neck Tumor 26 1.413
78
c VSC019 Vesicoureteral Reflux 1 59 1.360
79
ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59 1.360
80
PLG004 Plagiocephaly 41 1.360
81
WLF006 Wolffian Duct Adenocarcinoma 34 1.360
82
NVS017 Nevus, Epidermal 68 1.322
83
P KLL001 Kallmann Syndrome 64 1.322
84
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.322
85
ODN023 Odontochondrodysplasia 61 1.322
86
P VND007 Van Der Woude Syndrome 1 58 1.322
87
c CRP023 Carpenter Syndrome 1 56 1.322
88
OST044 Osteoglophonic Dysplasia 53 1.322
89
WLL006 Wells Syndrome 50 1.322
90
THY128 Thyroid Tumor 47 1.322
91
HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 46 1.322
92
PGM003 Pigmentation Disease 44 1.322
93
P ORF002 Orofacial Cleft 43 1.322
94
BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 36 1.322
95
DCR002 Dacryocystocele 35 1.322
96
c FML353 Familial Ovarian Cancer 34 1.322
97
c ADL057 Adult Teratoma 34 1.322
98
P CLR001 Clear Cell Acanthoma 34 1.322
99
TST010 Testicular Spermatocytic Seminoma 33 1.322
100
CYT014 Cytochrome P450 Oxidoreductase Deficiency 33 1.322
101
P BND014 Bone Development Disease 32 1.322
102
APC002 Apocrine Adenosis of Breast 30 1.322
103
EXP002 Exposure Keratitis 25 1.322
104
CRV029 Cervical Keratinizing Squamous Cell Carcinoma 16 1.322
105
P LNG064 Lung Cancer Susceptibility 3 77 0.143
106
P NSP012 Nasopharyngeal Carcinoma 67 0.136
107
P RRB004 Rare Breast Tumor 44 0.128
108
P NRF023 Neurofibromatosis, Type Ii 76 0.120
110
P HPT023 Hepatocellular Carcinoma 100 0.111
111
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.101
112
P PLY006 Polydactyly 58 0.101
113
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.101
114
DWN001 Down Syndrome 70 0.091
115
FML037 Female Breast Cancer 52 0.091
116
MCH006 Mechanical Strabismus 39 0.091
117
OST159 Osteogenic Sarcoma 66 0.079
118
P BRC006 Brachydactyly 53 0.079
119
CLF001 Cleft Lip 53 0.079
120
c SPR009 Sporadic Breast Cancer 45 0.079
121
OVR094 Ovarian Epithelial Cancer 38 0.079
122
c LKM061 Leukemia, Acute Myeloid 83 0.064
123
P OST002 Osteoporosis 73 0.064
124
ADN011 Adenoid Cystic Carcinoma 70 0.064
125
MLN008 Melanoma 69 0.064
126
P SLP006 Sleep Apnea 69 0.064
127
P BLD062 Bile Duct Cancer 65 0.064
128
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.064
129
IDP011 Idiopathic Interstitial Pneumonia 63 0.064
130
P PLM036 Pulmonary Fibrosis 61 0.064
131
P MYL006 Myeloid Leukemia 60 0.064
132
P SCL018 Scoliosis 60 0.064
133
THY029 Thyroid Carcinoma 59 0.064
134
ADN018 Adenoma 58 0.064
135
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.064
136
HYP266 Hypoxia 56 0.064
137
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.064
138
CLF004 Cleft Lip/palate 54 0.064
139
P PTT006 Pituitary Adenoma 54 0.064
140
PRS129 Prostatic Hyperplasia, Benign 49 0.064
141
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.064
142
HLX001 Helix Syndrome 47 0.064
143
PPL002 Papillary Carcinoma 47 0.064
144
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41 0.064
145
NVS015 Nevus Comedonicus 39 0.064
146
P ALZ034 Alzheimer Disease 88 0.045
148
OST012 Osteoarthritis 78 0.045
149
CRV035 Cervical Cancer 76 0.045
150
P HRT032 Heart Disease 75 0.045
151
PLM134 Pulmonary Fibrosis, Idiopathic 75 0.045
152
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.045
153
RNL065 Renal Cell Carcinoma, Papillary, 1 73 0.045
154
P PHC003 Pheochromocytoma 71 0.045
155
P NRB001 Neuroblastoma 71 0.045
156
OTT002 Otitis Media 71 0.045
157
ADL002 Adult Syndrome 69 0.045
158
LYM133 Lymphoma, Hodgkin, Classic 69 0.045
159
c BSL007 Basal Cell Carcinoma 68 0.045
160
P MJR001 Major Depressive Disorder 68 0.045
161
SKN019 Skin Melanoma 67 0.045
162
c ATS007 Autism Spectrum Disorder 67 0.045
163
GRG001 Greig Cephalopolysyndactyly Syndrome 67 0.045
164
P SKN015 Skin Carcinoma 67 0.045
165
FCT007 Factor Vii Deficiency 66 0.045
166
c RHB024 Rhabdomyosarcoma 2 65 0.045
167
P LPS002 Liposarcoma 65 0.045
168
P ATS364 Autism 65 0.045
169
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.045
170
BRR014 Barrett Esophagus 64 0.045
171
DPR016 Depression 63 0.045
172
P GLM045 Glioma 63 0.045
173
P PSR002 Psoriasis 62 0.045
174
P MCR256 Microphthalmia, Syndromic 9 61 0.045
175
LNG099 Lung Disease 61 0.045
176
ISC004 Ischemia 60 0.045
177
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.045
178
MCR013 Microphthalmia 60 0.045
179
RTN017 Retinal Detachment 60 0.045
180
EYD002 Eye Disease 58 0.045
181
BRS051 Breast Disease 58 0.045
182
P MCR010 Microcephaly 58 0.045
183
P BCL017 B-Cell Lymphoma 58 0.045
184
THY022 Thymic Carcinoma 57 0.045
185
P EXN002 Exanthem 57 0.045
186
MNT002 Mental Depression 57 0.045
187
PLC005 Placental Insufficiency 57 0.045
188
P PLY147 Polydactyly, Postaxial, Type A1 56 0.045
189
P BPL003 Bipolar Disorder 56 0.045
190
P OPT009 Optic Neuritis 56 0.045
191
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.045
192
FRY006 Fryns Microphthalmia Syndrome 54 0.045
193
P TCD001 Tic Disorder 54 0.045
194
HDR002 Hidradenitis Suppurativa 53 0.045
195
NRT004 Neuritis 53 0.045
196
CLB010 Coloboma of Macula 53 0.045
197
PST011 Pustulosis of Palm and Sole 52 0.045
198
PRS045 Prostatic Hypertrophy 52 0.045
199
THY124 Thyroid Gland Papillary Carcinoma 52 0.045
200
PRS021 Prostatic Adenoma 51 0.045
201
SPP010 Suppressor of Tumorigenicity 3 51 0.045
202
P LSS002 Lissencephaly 51 0.045
203
LNG031 Lung Benign Neoplasm 50 0.045
204
CLR109 Colorectal Adenocarcinoma 50 0.045
205
AMB002 Amblyopia 50 0.045
206
P GND004 Gonadal Dysgenesis 49 0.045
207
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.045
208
HDR003 Hidradenitis 49 0.045
209
BNR002 Bone Resorption Disease 48 0.045
210
c SPL067 Split-Hand/foot Malformation 1 48 0.045
211
P UTR058 Uterine Anomalies 48 0.045
212
HYP025 Hyperphosphatemia 47 0.045
213
c HYD064 Hydrocephalus, Congenital, 1 47 0.045
214
UMB002 Umbilical Hernia 47 0.045
215
ANL022 Anal Fistula 47 0.045
216
ISL121 Isolated Split Hand-Split Foot Malformation 46 0.045
217
PLY012 Polyhydramnios 46 0.045
218
ADR040 Adrenal Gland Pheochromocytoma 46 0.045
219
GLL048 Glial Tumor 45 0.045
220
c CTR103 Cataract 4, Multiple Types 45 0.045
221
LRY029 Laryngomalacia 45 0.045
222
HRT030 Hartsfield Syndrome 45 0.045
223
c EST002 Estrogen-Receptor Negative Breast Cancer 44 0.045
224
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.045
225
DWR001 Dwarfism 44 0.045
226
FNC007 Functioning Pituitary Adenoma 44 0.045
227
c 46X001 46 Xy Gonadal Dysgenesis 43 0.045
228
P DFF019 Diffuse Gastric Cancer 43 0.045
229
c PRM038 Primary Agammaglobulinemia 43 0.045
230
ORL015 Oral Squamous Cell Carcinoma 43 0.045
231
BLR013 Biliary Tract Cancer 42 0.045
232
SBC011 Sebaceous Adenocarcinoma 42 0.045
233
EXT022 Exotropia 42 0.045
234
MCR103 Microtia 42 0.045
235
NNF007 Non-Functioning Pituitary Adenoma 42 0.045
236
CLF056 Cleft Lip with or Without Cleft Palate 41 0.045
237
MMM006 Mammographic Density 41 0.045
238
c MJR024 Major Affective Disorder 9 41 0.045
239
P RRT020 Rare Tumor 41 0.045
240
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.045
241
SKL017 Skeletal Dysplasias 40 0.045
242
48X005 48,xyyy 39 0.045
243
SPP007 Suppression Amblyopia 39 0.045
244
P SPL061 Split Hand-Foot Malformation 38 0.045
245
TRC005 Tracheal Stenosis 38 0.045
246
c MJR022 Major Affective Disorder 8 38 0.045
247
ALT003 Alternating Exotropia 34 0.045
248
MLC004 Mulchandani-Bhoj-Conlin Syndrome 32 0.045
249
P PLM182 Pulmonary Hypoplasia, Primary 32 0.045
250
PLY150 Polykaryocytosis Inducer 31 0.045
251
PST092 Posttransplant Acute Limbic Encephalitis 29 0.045
252
CLB009 Coloboma of Iris 28 0.045
253
FTL029 Fetal Thalidomide Syndrome 27 0.045
254
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.045
255
CHR176 Chromophil Renal Cell Carcinoma 23 0.045
256
PRN066 Prenatal Bowing 11 0.045
257
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 0.045
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