Search results for NF1

292 hits were found for NF1

# Family MCID Name MIFTS Score
1
P NRF018 Neurofibromatosis, Type 1 78 21.457
2
CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34 11.117
3
NRF008 Neurofibromatosis-Noonan Syndrome 47 4.366
4
CHR554 Chromosome 17q11.2 Deletion Syndrome 7 4.178
5
c JVN004 Juvenile Myelomonocytic Leukemia 69 4.089
6
WTS001 Watson Syndrome 30 3.868
7
NRF007 Neurofibroma 58 3.593
8
P CLR023 Colorectal Cancer 95 3.501
9
MLG077 Malignant Peripheral Nerve Sheath Tumor 55 3.157
10
P BRS047 Breast Cancer 100 3.012
11
MYL009 Myelodysplastic Syndrome 71 2.997
12
NRF003 Neurofibrosarcoma 41 2.981
13
PLX002 Plexiform Neurofibroma 39 2.980
14
NRF016 Neurofibromatosis, Familial Spinal 33 2.876
15
LGS001 Legius Syndrome 51 2.828
16
P AST007 Astrocytoma 63 2.748
17
P PLC011 Pilocytic Astrocytoma 57 2.721
18
P TBR001 Tuberous Sclerosis 67 2.674
19
P NRV006 Nervous System Cancer 59 2.671
20
P PRG013 Paraganglioma 54 2.635
21
P PHC003 Pheochromocytoma 72 2.443
22
ATS270 Autosomal Dominant Café Au Lait Spots 25 2.405
23
c NRF019 Neurofibromatosis, Type 2 62 2.361
24
P SCH070 Schwannomatosis 51 2.361
25
VNH007 Von Hippel-Lindau Syndrome 70 2.305
26
PLM070 Pulmonic Stenosis 59 2.305
27
ECT005 Ectropion 41 2.305
28
ELP001 Elephantiasis 36 2.305
29
P LFR001 Li-Fraumeni Syndrome 72 2.282
30
P NNN008 Noonan Syndrome 1 68 2.282
31
c MLT024 Multiple Endocrine Neoplasia Iia 62 2.282
32
NRL005 Neurilemmoma 61 2.282
33
P LPR002 Leopard Syndrome 54 2.282
34
P MLT074 Multiple Endocrine Neoplasia 54 2.282
35
P RNV001 Renovascular Hypertension 46 2.282
36
CLL001 Cellular Schwannoma 42 2.282
37
PHC013 Phaeochromocytoma 41 2.282
38
PRP021 Peripheral Nervous System Neoplasm 48 2.273
39
OPT032 Optic Pathway Glioma 26 2.040
40
GST019 Gastrointestinal Stromal Tumor 74 1.985
41
BNS002 Bone Structure Disease 36 1.985
42
OPT007 Optic Nerve Glioma 41 1.934
43
c NRV012 Nervous System Benign Neoplasm 30 1.934
44
ATS001 Autistic Disorder 63 1.914
45
ATS009 Autosomal Genetic Disease 38 1.914
46
c SPR094 Sporadic Pheochromocytoma 36 1.914
47
P PSD086 Pseudoarthrosis 27 1.914
48
BNM001 Bone Marrow Cancer 51 1.891
49
OST032 Osteofibrous Dysplasia 46 1.891
50
OPT008 Optic Nerve Neoplasm 37 1.891
51
MLG041 Malignant Triton Tumor 35 1.891
52
ADL042 Adult Malignant Schwannoma 12 1.891
53
c MLT136 Multiple Endocrine Neoplasia 1 68 1.863
54
BSL036 Basal Cell Nevus Syndrome 67 1.863
55
c MNN043 Meningioma, Familial 56 1.863
56
PLN006 Poland Syndrome 54 1.863
57
EXP004 Exophthalmos 50 1.863
58
MYL004 Myelodysplastic Myeloproliferative Cancer 46 1.863
59
P SPN042 Spinal Cord Ependymoma 43 1.863
60
c JVN009 Juvenile Pilocytic Astrocytoma 43 1.863
61
SPN021 Spinal Meningioma 42 1.863
62
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 41 1.863
63
CHR386 Chromosome 6pter-P24 Deletion Syndrome 39 1.863
64
LNG037 Lung Sarcoma 38 1.863
65
AMY002 Amyloid Tumor 37 1.863
66
INT042 Internuclear Ophthalmoplegia 37 1.863
67
P MNN007 Meningocele 35 1.863
68
BRC010 Brachial Plexus Lesion 35 1.863
69
FRY001 Frey Syndrome 35 1.863
70
PLX001 Plexiform Schwannoma 35 1.863
71
PLC004 Pilocytic Astrocytoma of Cerebellum 34 1.863
72
c ADL008 Adult Oligodendroglioma 34 1.863
73
BRN031 Brain Germinoma 33 1.863
74
OBS004 Obstructive Hydrocephalus 33 1.863
75
DDN005 Duodenal Somatostatinoma 33 1.863
76
c INF031 Inflammatory Leiomyosarcoma 33 1.863
77
INT004 Intraneural Perineurioma 33 1.863
78
TLS001 Tolosa-Hunt Syndrome 32 1.863
79
GNT001 Giant Cell Reparative Granuloma 31 1.863
80
SCL014 Scleral Staphyloma 30 1.863
81
ATY004 Atypical Neurofibroma 30 1.863
82
MLG005 Malignant Spindle Cell Melanoma 30 1.863
83
c CHR094 Chronic Polyneuropathy 30 1.863
84
EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 29 1.863
85
CRB031 Cerebral Arterial Disease 29 1.863
86
NPH006 Nephrogenic Adenofibroma 28 1.863
87
CNV006 Conventional Leiomyosarcoma 28 1.863
88
EXP001 Expressive Language Disorder 28 1.863
89
PLM005 Pleomorphic Lipoma 28 1.863
90
HYP048 Hypotropia 28 1.863
91
P INT260 Intracranial Berry Aneurysm 26 1.863
92
IMM002 Immature Cataract 26 1.863
93
ORB011 Orbit Rhabdomyosarcoma 25 1.863
94
SBC002 Subclavian Artery Aneurysm 24 1.863
95
MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 23 1.863
96
GLF001 Gliofibroma 23 1.863
97
CHL062 Childhood Pilocytic Astrocytoma 22 1.863
98
ORB002 Orbit Embryonal Rhabdomyosarcoma 19 1.863
99
P SPN039 Spinal Canal and Spinal Cord Meningioma 18 1.863
100
PLS001 Pulsating Exophthalmos 16 1.863
101
VGS002 Vagus Nerve Neoplasm 15 1.863
102
EQT001 Equatorial Staphyloma 9 1.863
103
CFL005 Cafe-Au-Lait Spots, Multiple 25 1.504
104
ORG010 Organ System Benign Neoplasm 31 1.353
105
c JVN056 Juvenile Myelomonocytic Leukemia, Somatic Nf1-Related 11 1.353
106
ATS008 Autosomal Dominant Disease 40 1.317
107
NRM005 Neuromuscular Disease 55 0.259
108
PRP019 Peripheral Nervous System Disease 53 0.259
109
P GLM045 Glioma 59 0.193
110
P LKM002 Leukemia 72 0.188
111
KDS001 Kid Syndrome 57 0.183
112
CHL071 Child Syndrome 59 0.178
113
NLL002 Null Syndrome 26 0.172
114
PRP010 Prepuce Cancer 17 0.167
115
HRD059 Hereditary Peripheral Nervous Disorder 13 0.167
116
MLN008 Melanoma 70 0.129
117
CLL006 Cellular Neurofibroma 30 0.129
118
P ORL007 Oral Cavity Cancer 57 0.114
119
ORL011 Oral Cancer 56 0.114
120
NRN002 Neuronitis 39 0.114
121
CSY001 C Syndrome 53 0.106
122
LRN003 Learning Disability 46 0.106
123
BRC012 Brucellosis 61 0.096
124
OCL009 Ocular Cancer 58 0.096
125
BRT030 Birth Defects 44 0.096
126
P GLB002 Glioblastoma 66 0.086
127
P MYL006 Myeloid Leukemia 64 0.086
128
MTH009 Mouth Disease 62 0.086
129
P SCL018 Scoliosis 56 0.086
130
RDN001 Reading Disorder 36 0.086
131
P LNG032 Lung Cancer 94 0.075
132
P NRB001 Neuroblastoma 71 0.075
133
SRC014 Sarcoma 66 0.075
134
c ACT073 Acute Leukemia 61 0.075
135
c TBR024 Tuberous Sclerosis-1 55 0.075
136
GDS001 Good Syndrome 46 0.075
137
BNC003 Bone Cancer 42 0.075
138
END072 Endotheliitis 41 0.075
139
c CNG031 Congenital Nervous System Abnormality 39 0.075
140
SPN369 Spinal Disease 38 0.075
141
P DYS005 Dyslexia 36 0.075
142
FCL011 Facial Nerve Disease 35 0.075
143
ADL086 Adolescent Idiopathic Scoliosis 32 0.075
144
c DYS120 Dyslexia 2 24 0.075
145
c DYS121 Dyslexia 1 23 0.075
146
P NRV007 Nervous System Disease 70 0.061
147
P MYP004 Myopathy 68 0.061
148
WLL006 Wells Syndrome 58 0.061
149
MYL031 Myeloproliferative Neoplasm 57 0.061
150
ADL002 Adult Syndrome 57 0.061
151
P EXN002 Exanthem 57 0.061
152
SFT003 Soft Tissue Sarcoma 56 0.061
153
P THY032 Thyroiditis 53 0.061
154
ERY003 Erythema Multiforme 53 0.061
155
BNF002 Bone Fracture 51 0.061
156
OPT006 Optic Nerve Disease 49 0.061
157
GNG002 Ganglioneuroma 48 0.061
158
HRT007 Heart Cancer 46 0.061
159
IDP070 Idiopathic Scoliosis 39 0.061
160
c PLN017 Peeling Skin Syndrome 1 38 0.061
161
GRM001 Germ Cell and Embryonal Cancer 38 0.061
162
P HRT017 Heart Tumor 34 0.061
163
IRS003 Iris Disease 32 0.061
164
PRM243 Primary Bone Cancer 25 0.061
165
ACC001 Accessory Nerve Disease 21 0.061
166
c PRM287 Primary Adult Heart Tumor 18 0.061
167
NRF006 Neurofibroma of the Heart 13 0.061
168
c DYS122 Dyslexia 3 12 0.061
169
c LKM061 Leukemia, Acute Myeloid 74 0.043
170
P STM004 Stomach Cancer 72 0.043
171
P ADN016 Adenocarcinoma 69 0.043
172
P LYM118 Lymphoma 69 0.043
173
PCK002 Pick Disease 68 0.043
174
P ANR002 Aniridia 66 0.043
175
CNT098 Central Core Disease 66 0.043
176
P OST001 Osteopetrosis 63 0.043
177
P OST002 Osteoporosis 63 0.043
178
c LKM062 Leukemia, Acute Lymphoblastic 63 0.043
179
ALC007 Alcohol Dependence 62 0.043
180
HMT002 Hematologic Cancer 62 0.043
181
MTC007 Mitochondrial Complex I Deficiency 62 0.043
182
P SHR029 Short Syndrome 61 0.043
183
LNG099 Lung Disease 61 0.043
184
P MYM002 Moyamoya Disease 60 0.043
185
P LYM026 Lymphoblastic Leukemia 60 0.043
186
P UVL004 Uveal Melanoma 60 0.043
187
MCR013 Microphthalmia 59 0.043
188
c MLG068 Malignant Glioma 59 0.043
189
P GST049 Gastrointestinal System Cancer 59 0.043
190
P HMN010 Hemangioma 59 0.043
191
MSM014 Mismatch Repair Cancer Syndrome 59 0.043
192
P TMT001 Timothy Syndrome 58 0.043
193
P CHR285 Chronic Myelomonocytic Leukemia 58 0.043
194
IMG001 Image Syndrome 58 0.043
195
P NRP001 Neuropathy 57 0.043
196
EYD002 Eye Disease 57 0.043
197
P HYP069 Hyperparathyroidism 56 0.043
198
P SLV001 Silver-Russell Syndrome 56 0.043
199
PLS011 Plasmacytoma 56 0.043
200
P OLG002 Oligodendroglioma 55 0.043
201
P ACT074 Acute Lymphocytic Leukemia 55 0.043
202
SMT008 Smith-Magenis Syndrome 55 0.043
203
c PND001 Pain Disorder 55 0.043
204
P PLY019 Polyneuropathy 54 0.043
205
PPL022 Papilloma 54 0.043
206
CND002 Conduct Disorder 53 0.043
207
GST050 Gastrointestinal System Disease 53 0.043
208
MGL013 Megalencephaly 53 0.043
209
LYM019 Lymphosarcoma 53 0.043
210
CRS005 Crest Syndrome 52 0.043
211
ANG020 Angiosarcoma 52 0.043
212
VSC006 Vascular Cancer 52 0.043
213
P SPS003 Spastic Diplegia 52 0.043
214
P ENC018 Encephalopathy 52 0.043
215
MNT002 Mental Depression 52 0.043
216
GNT002 Giant Cell Glioblastoma 51 0.043
217
c RTN162 Retinitis Pigmentosa 2 51 0.043
218
RDC002 Radiculopathy 50 0.043
219
P CPL006 Capillary Hemangioma 50 0.043
220
P PRC019 Precocious Puberty 50 0.043
221
LYM024 Lymphatic System Disease 49 0.043
222
MSS002 Mass Syndrome 49 0.043
223
P PLN008 Peeling Skin Syndrome 49 0.043
224
c LKM060 Leukemia, Acute Lymphoblastic 3 49 0.043
225
VND001 Vein Disease 49 0.043
226
BRN032 Brain Glioma 48 0.043
227
c CLL013 Cell Type Cancer 48 0.043
228
P GLM040 Glioma Susceptibility 1 48 0.043
229
P LPM005 Lipomatosis 48 0.043
230
MYL003 Myeloid Sarcoma 47 0.043
231
STM006 Stomach Disease 47 0.043
232
SKN023 Skin Tag 46 0.043
233
NRM004 Neuroma 46 0.043
234
PRL017 Prolymphocytic Leukemia 46 0.043
235
NSY001 N Syndrome 44 0.043
236
LYM067 Lymphoid Leukemia 43 0.043
237
c PLN018 Peeling Skin Syndrome 2 43 0.043
238
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 43 0.043
239
PHY002 Physical Disorder 43 0.043
240
FBR019 Fibromatosis 43 0.043
241
c ADL052 Adult Acute Lymphocytic Leukemia 42 0.043
242
SPN040 Spinal Cancer 42 0.043
243
ENC010 Encephalocraniocutaneous Lipomatosis 42 0.043
244
P PRG017 Paraganglioma and Gastric Stromal Sarcoma 42 0.043
245
PLM020 Pleomorphic Xanthoastrocytoma 42 0.043
246
INT038 Interdigitating Dendritic Cell Sarcoma 42 0.043
247
P CNN004 Connective Tissue Cancer 42 0.043
248
MST004 Mast Cell Neoplasm 41 0.043
249
OVR105 Ovarian Serous Carcinoma 41 0.043
250
FBR054 Fibroma 41 0.043
251
CRN031 Cranial Nerve Disease 41 0.043
252
P SKN013 Skin Benign Neoplasm 41 0.043
253
GLM008 Glomus Tumor 41 0.043
254
CLD014 Cole Disease 40 0.043
255
c CLL012 Cell Type Benign Neoplasm 40 0.043
256
c CHR579 Chiari Malformation Type Ii 40 0.043
257
ADR009 Adrenal Cortex Disease 39 0.043
258
BLD054 Blood Protein Disease 39 0.043
259
P HYP265 Hypotonia 39 0.043
260
CRB009 Cerebritis 39 0.043
261
BND014 Bone Development Disease 39 0.043
262
HRT010 Heart Sarcoma 38 0.043
263
PHT003 Phototoxic Dermatitis 37 0.043
264
PLY024 Polymicrogyria 36 0.043
265
c LYM106 Lymphoproliferative Syndrome 1 36 0.043
266
P PRN022 Perineurioma 36 0.043
267
c ADL001 Adult Lymphoma 35 0.043
268
PHY007 Phyllode Tumor 35 0.043
269
MSN004 Mesenchymal Cell Neoplasm 35 0.043
270
P GRM010 Germ Cells Tumors 34 0.043
271
BNL002 Bone Lymphoma 33 0.043
272
CBB002 Cobb Syndrome 33 0.043
273
LYM023 Lymphatic System Cancer 32 0.043
274
CRB159 Cerebral Visual Impairment 31 0.043
275
CRN033 Cranial Nerve Malignant Neoplasm 31 0.043
276
HRT003 Heart Lymphoma 31 0.043
277
ACT118 Acute Non Lymphoblastic Leukemia 30 0.043
278
YNG002 Young Syndrome 29 0.043
279
PRM151 Primary Bone Lymphoma 26 0.043
280
c PLN025 Peeling Skin Syndrome 5 25 0.043
281
HMH004 Hemihyperplasia, Isolated 25 0.043
282
c LKM055 Leukemia, Acute Lymphoblastic 2 22 0.043
283
URC003 Urachal Adenocarcinoma 22 0.043
284
WSC001 Wisconsin Syndrome 18 0.043
285
CTN020 Cutaneous Sclerosis 18 0.043
286
BNM008 Bone Mineral Density, Low 17 0.043
287
c INF065 Infantile Hypotonia 17 0.043
288
HPS001 Hip Subluxation 17 0.043
289
c FML303 Familial/multiple Cancer 16 0.043
290
c CNG120 Congenital Pseudoarthrosis 14 0.043
291
CNG284 Congenital Pseudoarthrosis of the Tibia 14 0.043
292
PRT056 Protein R Deficiency 12 0.043
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