Search results for fanci

375 hits were found for fanci

# Family MCID Name MIFTS Score
1
c FNC029 Fanconi Anemia, Complementation Group I 55 87.550
2
c FNC027 Fanconi Anemia, Complementation Group a 80 71.458
3
P GST053 Gastric Cancer 82 16.148
4
c FNC042 Fanconi Anemia, Complementation Group D2 54 13.504
5
P MCR010 Microcephaly 59 12.507
6
DFC004 Deficiency Anemia 74 11.163
7
VCT001 Vacterl Association 46 10.908
8
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 10.324
9
XRD010 Xeroderma Pigmentosum, Variant Type 72 10.082
10
ESP020 Esophageal Atresia 59 10.082
11
c FNC028 Fanconi Anemia, Complementation Group L 46 9.697
12
c FNC025 Fanconi Anemia, Complementation Group J 52 8.879
13
c FNC024 Fanconi Anemia, Complementation Group D1 51 8.590
14
P FNC044 Fanconi Anemia, Complementation Group C 56 8.437
15
c FNC023 Fanconi Anemia, Complementation Group N 48 8.172
16
c FNC052 Fanconi Anemia, Complementation Group T 41 8.042
17
c FNC058 Fanconi Anemia, Complementation Group R 43 7.955
18
c FNC048 Fanconi Anemia, Complementation Group O 51 7.487
19
P APL001 Aplastic Anemia 72 7.431
20
c FNC046 Fanconi Anemia, Complementation Group P 49 7.431
21
c FNC047 Fanconi Anemia, Complementation Group Q 47 7.363
22
c FNC057 Fanconi Anemia, Complementation Group U 42 7.320
23
c MTC061 Mitochondrial Dna Depletion Syndrome 1 49 7.129
24
P SCK004 Seckel Syndrome 58 7.129
25
c FNC056 Fanconi Anemia, Complementation Group V 38 7.129
26
INT258 Interstitial Nephritis, Karyomegalic 46 7.129
27
c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54 7.129
28
c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47 7.129
29
P MTC010 Mitochondrial Dna Depletion Syndrome 46 7.129
30
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45 7.129
31
P BRS047 Breast Cancer 97 2.709
32
P CRN300 Coronary Heart Disease 1 73 1.497
33
APP003 Appendiceal Neoplasm 37 1.458
34
P GLL018 Gallbladder Cancer 59 1.458
35
BRN024 Bronchitis 67 1.381
36
LPP008 Lipoprotein Quantitative Trait Locus 65 1.267
37
P ATX030 Ataxia-Telangiectasia 80 1.258
38
HYP080 Hypogonadism 49 1.213
39
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.204
40
c FNC043 Fanconi Anemia, Complementation Group E 62 1.190
41
TLN003 Telangiectasis 51 1.175
42
GLM045 Glioma 62 1.169
43
NWC001 Newcastle Disease 47 1.168
44
c FNC032 Fanconi Anemia, Complementation Group B 48 1.145
45
CHL123 Chlamydia 58 1.143
46
PPT005 Peptic Ulcer Disease 58 1.111
47
DRM006 Dermatitis 61 1.097
48
AVN001 Avian Influenza 61 1.088
49
P LNG064 Lung Cancer Susceptibility 3 69 1.061
50
P ADN016 Adenocarcinoma 63 1.061
51
END057 Endometrial Cancer 76 1.056
52
INT067 Interstitial Nephritis 46 1.020
53
PLG002 Plague 58 0.961
54
BLM001 Bloom Syndrome 65 0.938
55
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.921
56
ATH013 Atherosclerosis Susceptibility 63 0.921
57
c HPT016 Hepatitis B 62 0.921
58
HLX001 Helix Syndrome 47 0.913
59
PPL052 Papillomatosis, Confluent and Reticulated 34 0.887
60
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 0.867
61
SKN022 Skin Squamous Cell Carcinoma 53 0.867
62
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 0.867
63
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.858
64
OCL069 Ocular Motor Apraxia 57 0.858
65
WST005 West Nile Virus 55 0.858
66
MCR020 Microsporidiosis 48 0.858
67
VTR016 Vater/vacterl Association 50 0.826
68
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.826
69
P INH011 Inherited Bone Marrow Failure Syndromes 33 0.826
70
OTT002 Otitis Media 70 0.790
71
c FNC062 Fanconi Anemia, Complementation Group S 29 0.790
72
LRY004 Laryngotracheitis 32 0.790
73
P INF032 Infertility 60 0.790
74
P EXN002 Exanthem 58 0.785
75
c ATR087 Atrial Standstill 1 74 0.785
76
P ACN011 Acne 55 0.785
77
P HYP061 Hypertrophic Cardiomyopathy 68 0.785
78
PLM010 Pulmonary Edema 54 0.785
79
c ACT075 Acute Myocardial Infarction 55 0.785
80
P HMP007 Hemophilia 52 0.785
81
GST050 Gastrointestinal System Disease 55 0.785
82
HYP056 Hypoglycemia 65 0.785
83
MNN043 Meningioma, Familial 79 0.748
84
P GLM040 Glioma Susceptibility 1 70 0.748
85
P DRM053 Dermatitis, Atopic 65 0.747
86
HLC007 Helicobacter Pylori Infection 67 0.747
87
P ART021 Arteriosclerosis 53 0.747
88
ULC004 Ulcerative Colitis 74 0.747
89
CRH001 Crohn's Disease 80 0.747
90
P HYP098 Hypereosinophilic Syndrome 66 0.747
91
c HYP724 Hyperlipoproteinemia, Type Iii 66 0.711
92
ART140 Arteries, Anomalies of 52 0.711
93
APP010 Appendix Cancer 44 0.711
94
ANT039 Antisynthetase Syndrome 55 0.711
95
HYP458 Hyper Ige Syndrome 60 0.711
96
c ACT071 Acute Kidney Failure 60 0.711
97
ISC004 Ischemia 61 0.711
98
SXL003 Sexual Disorder 49 0.691
99
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.691
100
c HYP595 Hypertension, Essential 84 0.691
101
ORN001 Ornithosis 39 0.691
102
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.691
103
INT071 Intestinal Perforation 49 0.691
104
P VSC007 Vascular Disease 62 0.691
105
URT001 Urethritis 52 0.691
106
MDD010 Middle Ear Disease 46 0.691
107
URT004 Urethral Syndrome 39 0.691
108
PLM031 Poliomyelitis 62 0.691
109
SCH014 Schistosomiasis 56 0.691
110
DMP001 Dumping Syndrome 43 0.691
111
PRR018 Preauricular Sinus 14 0.691
112
CRC034 Carcinoma Showing Thymus-Like Differentiation 22 0.691
113
c GLM043 Glioma Susceptibility 9 30 0.613
114
c GLM025 Glioma Susceptibility 2 30 0.613
115
c GLM047 Glioma Susceptibility 3 32 0.613
116
THY123 Thyroid Gland Follicular Carcinoma 53 0.613
117
THY124 Thyroid Gland Papillary Carcinoma 38 0.613
118
P PNC035 Pancreatic Cancer 87 0.602
119
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.555
120
ALL003 Allergic Rhinitis 66 0.555
121
LTN004 Late-Onset Retinal Degeneration 59 0.555
122
ZLL002 Zollinger-Ellison Syndrome 55 0.555
123
P SLP006 Sleep Apnea 69 0.555
124
PHT008 Photosensitive Epilepsy 41 0.555
125
PFF001 Pfeiffer Syndrome 77 0.555
126
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 0.555
127
P CLC063 Celiac Disease 1 65 0.555
128
CRD132 Cardiac Conduction Defect 59 0.555
129
c SPN225 Spondyloarthropathy 1 70 0.555
130
GST092 Gastroesophageal Reflux 59 0.555
131
c DRM040 Dermatitis Herpetiformis, Familial 35 0.555
132
c CNG006 Congenital Hypothyroidism 63 0.555
133
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.555
134
P PLM037 Pulmonary Hypertension 69 0.555
135
c CHL119 Cholangitis, Primary Sclerosing 57 0.555
136
P BRG001 Brugada Syndrome 69 0.555
137
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.555
138
BRG013 Buerger Disease 56 0.555
139
P HYP750 Hypertriglyceridemia, Familial 61 0.555
140
c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 51 0.555
141
PBL005 Piebald Trait 60 0.555
142
P SJG008 Sjogren Syndrome 60 0.555
143
SDD001 Sudden Infant Death Syndrome 60 0.555
144
c MCR115 Microvascular Complications of Diabetes 5 65 0.555
145
P MYC007 Myocardial Infarction 69 0.555
146
GST019 Gastrointestinal Stromal Tumor 78 0.555
147
LGN006 Legionnaire Disease 52 0.555
148
MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 44 0.555
149
ATM095 Autoimmune Disease 61 0.555
150
INT051 Intussusception 53 0.555
151
HRW001 Hair Whorl 35 0.555
152
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.555
153
IGR001 Ige Responsiveness, Atopic 58 0.555
154
P BND020 Bone Disease 60 0.555
155
PLL012 Pollen Allergy 44 0.555
156
OST017 Osteomyelitis 63 0.555
157
SLT007 Solitary Rectal Ulcer Syndrome 16 0.555
158
SCR015 Scarlet Fever 38 0.555
159
THR024 Thrombosis 56 0.555
160
P RSP003 Respiratory Failure 73 0.555
161
DSS009 Disseminated Intravascular Coagulation 56 0.555
162
TRC008 Trachoma 53 0.555
163
NRF028 Near-Fatal Asthma 27 0.555
164
LMB062 Limb Ischemia 55 0.555
165
MNN032 Meningococcal Meningitis 52 0.555
166
VLV011 Vulvovaginal Candidiasis 49 0.555
167
c ATM011 Autoimmune Hepatitis 62 0.555
168
P GCH001 Gaucher's Disease 69 0.555
169
PRP030 Purpura 54 0.555
170
P THR015 Thrombophilia 51 0.555
171
BCT002 Bacterial Vaginosis 52 0.555
172
c MLG084 Malignant Fibrous Histiocytoma 62 0.555
173
CHL067 Cholecystitis 59 0.555
174
P DRR001 Diarrhea 55 0.555
175
INT002 Intermittent Claudication 61 0.555
176
PPL016 Papillary Adenofibroma 26 0.555
177
SPN051 Spondylitis 51 0.555
178
GST030 Gastrinoma 45 0.555
179
P HPT021 Hepatitis 68 0.555
180
P SCL009 Sclerosing Cholangitis 46 0.555
181
RTR008 Root Resorption 44 0.555
182
P HYP086 Hypothyroidism 68 0.555
183
P CND004 Candidiasis 57 0.555
184
HYP006 Hypertensive Heart Disease 48 0.555
185
P EPL164 Epilepsy 70 0.555
186
c HPT001 Hepatitis C 61 0.555
187
P PLY019 Polyneuropathy 52 0.555
188
P ANT006 Antiphospholipid Syndrome 55 0.555
189
P ADN017 Adenofibroma 33 0.555
190
P END044 Endometriosis 62 0.555
191
PLM001 Pulmonary Tuberculosis 69 0.555
192
P GST044 Gastritis 55 0.555
193
THR013 Thoracic Outlet Syndrome 45 0.555
194
LYS002 Lysosomal Storage Disease 51 0.555
195
MLG014 Malignant Fibrous Histiocytoma of Bone 32 0.555
196
PLM014 Pleomorphic Adenoma 51 0.555
197
P ADL010 Adult Respiratory Distress Syndrome 70 0.555
198
GST033 Gestational Diabetes 60 0.555
199
c HPT003 Hepatitis a 63 0.555
200
c DLT002 Dilated Cardiomyopathy 79 0.555
201
END062 Endometrial Hyperplasia 47 0.555
202
CMM005 Common Cold 55 0.555
203
P THR005 Thrombotic Thrombocytopenic Purpura 64 0.555
204
TXC005 Toxic Shock Syndrome 61 0.555
205
P THR014 Thrombocytopenia 66 0.555
206
GNG011 Gingival Disease 53 0.555
207
INF009 Inflammatory Spondylopathy 30 0.555
208
P DRM007 Dermatitis Herpetiformis 54 0.555
209
P HML002 Hemolytic Anemia 62 0.555
210
SKN016 Skin Disease 63 0.555
211
CRB039 Cerebrovascular Disease 65 0.555
212
DVR002 Diverticulitis 46 0.555
213
RSC001 Rosacea 55 0.555
214
P FBR003 Fibrous Histiocytoma 43 0.555
215
P MSC003 Muscular Atrophy 52 0.555
216
P MYC008 Myocarditis 59 0.555
217
APP008 Appendicitis 62 0.555
218
P CHL066 Cholangitis 51 0.555
219
DBT010 Diabetic Neuropathy 54 0.555
220
MSL001 Measles 61 0.555
221
ALB002 Albinism 46 0.555
222
BCK006 Back Pain 43 0.555
223
c BCT007 Bacterial Meningitis 55 0.555
224
P MNN013 Meningitis 65 0.555
225
INT075 Intracranial Hypertension 52 0.555
226
P CHR345 Chronic Pain 50 0.555
227
SPN186 Spinal Cord Injury 60 0.555
228
WHP002 Whiplash 35 0.555
229
GLL048 Glial Tumor 51 0.555
230
PRM329 Premature Aging 36 0.555
231
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.448
232
P TMR010 Tumor Predisposition Syndrome 69 0.448
233
INH023 Inherited Cancer-Predisposing Syndrome 53 0.448
234
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67 0.406
235
c BRS111 Breast-Ovarian Cancer, Familial 2 53 0.382
236
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.361
237
c WLM018 Wilms Tumor 5 53 0.361
238
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.361
239
CRV038 Cervical Squamous Cell Carcinoma 56 0.361
240
HPT070 Hepatosplenic T-Cell Lymphoma 35 0.361
241
c MJR022 Major Affective Disorder 8 37 0.302
242
c MJR024 Major Affective Disorder 9 40 0.302
244
P LFR001 Li-Fraumeni Syndrome 73 0.302
245
P BPL003 Bipolar Disorder 56 0.302
246
ALL029 Allergic Disease 61 0.302
247
TRM010 Traumatic Brain Injury 50 0.302
248
BRN071 Brain Injury 50 0.302
249
c LKM061 Leukemia, Acute Myeloid 83 0.270
250
MGC001 Megacolon 48 0.270
251
P PRS040 Prostate Cancer 95 0.234
252
P CLR023 Colorectal Cancer 100 0.234
253
P MJR001 Major Depressive Disorder 68 0.234
254
MDD011 Mood Disorder 61 0.234
255
MNT002 Mental Depression 56 0.234
256
HYP572 Hypoganglionosis 28 0.234
257
P HRP006 Herpes Simplex 65 0.234
258
DPR016 Depression 64 0.234
259
CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 32 0.191
260
INT330 Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies 18 0.191
261
WHM001 Whim Syndrome 60 0.191
262
P OVR042 Ovarian Cancer 88 0.191
263
P NSP012 Nasopharyngeal Carcinoma 60 0.191
264
DSS032 Disease by Infectious Agent 55 0.191
265
c THY107 Thymoma, Familial 42 0.191
266
NJM002 Nijmegen Breakage Syndrome-Like Disorder 39 0.191
267
P HPT023 Hepatocellular Carcinoma 95 0.191
268
P RCT021 Rectum Cancer 54 0.191
269
P LKM002 Leukemia 65 0.191
270
P THY023 Thymoma 64 0.191
271
IMP005 Impotence 52 0.191
272
DSS008 Disease of Mental Health 74 0.191
273
P LYN001 Lynch Syndrome 76 0.191
274
MCR013 Microphthalmia 59 0.191
275
P MLN008 Melanoma 75 0.191
276
SKN019 Skin Melanoma 70 0.191
278
RNL077 Renal Fibrosis 46 0.135
279
MNC002 Munchausen by Proxy 29 0.135
280
P LYM118 Lymphoma 66 0.135
281
P GLL020 Gallbladder Disease 57 0.135
282
P ALZ034 Alzheimer Disease 87 0.135
283
c ART115 Aortic Valve Disease 1 72 0.135
284
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.135
285
CYS001 Cystic Fibrosis 77 0.135
286
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 42 0.135
287
TBC004 Tobacco Addiction 63 0.135
288
c MSM022 Mismatch Repair Cancer Syndrome 1 69 0.135
289
c BRN108 Branchiootic Syndrome 1 63 0.135
290
ART002 Arts Syndrome 66 0.135
291
P FML011 Familial Adenomatous Polyposis 70 0.135
292
VRL003 Variola Major 43 0.135
293
INT017 Intestinal Schistosomiasis 51 0.135
294
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.135
295
ANN002 Anencephaly 57 0.135
296
BLL001 Baller-Gerold Syndrome 58 0.135
297
P MYS003 Myasthenia Gravis 67 0.135
298
HYP781 Hypoascorbemia 52 0.135
299
MYL069 Myeloma, Multiple 76 0.135
300
WRN001 Werner Syndrome 69 0.135
301
FRN006 Frontotemporal Dementia 68 0.135
302
P LKM062 Leukemia, Acute Lymphoblastic 69 0.135
303
c LKM063 Leukemia, Chronic Myeloid 70 0.135
304
c LFR007 Li-Fraumeni Syndrome 2 45 0.135
305
c FNC030 Fanconi Anemia, Complementation Group G 39 0.135
306
BRK010 Burkitt Lymphoma 65 0.135
307
P HNT016 Huntington Disease 73 0.135
308
PRS129 Prostatic Hyperplasia, Benign 48 0.135
309
P SLM003 Salmonellosis 54 0.135
310
TRY001 Trypanosomiasis 50 0.135
311
P PRK039 Parkinsonism 55 0.135
312
LMB024 Limbic Encephalitis 43 0.135
313
P DDN001 Duodenal Ulcer 52 0.135
314
HYP060 Hyperinsulinism 53 0.135
315
HPT019 Hepatic Encephalopathy 59 0.135
316
P HYP069 Hyperparathyroidism 62 0.135
317
MLG169 Malignant Astrocytoma 57 0.135
318
P OVR010 Ovarian Brenner Tumor 39 0.135
319
TRN018 Transitional Cell Carcinoma 56 0.135
320
ANP005 Anaplastic Astrocytoma 59 0.135
321
P BNG032 Benign Mesothelioma 53 0.135
322
BRD003 Bird Fancier's Lung 33 0.135
323
MLT001 Multiple Chemical Sensitivity 38 0.135
324
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.135
325
NRT001 Neurotic Disorder 56 0.135
326
P TRN020 Turner Syndrome 67 0.135
327
CNG034 Congestive Heart Failure 69 0.135
328
ADN018 Adenoma 58 0.135
329
P MYP006 Myopia 55 0.135
330
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.135
331
ART074 Aortic Dissection 53 0.135
332
HMP005 Hemiplegia 53 0.135
333
DPR002 Depersonalization Disorder 41 0.135
334
SPS005 Spastic Hemiplegia 40 0.135
335
P PRP029 Porphyria 60 0.135
336
TYP007 Typhoid Fever 63 0.135
337
CNS004 Constipation 56 0.135
338
SCR001 Secretory Meningioma 40 0.135
339
PRS021 Prostatic Adenoma 43 0.135
340
BLD131 Bladder Urothelial Carcinoma 59 0.135
341
P SKN015 Skin Carcinoma 71 0.135
342
P HLP001 Holoprosencephaly 68 0.135
343
P PNC044 Pancreatitis 61 0.135
344
c ACT027 Acute Pancreatitis 60 0.135
345
c ACT073 Acute Leukemia 59 0.135
346
PRS045 Prostatic Hypertrophy 53 0.135
347
c PRM005 Primary Hyperparathyroidism 59 0.135
348
INT395 Intracranial Meningioma 47 0.135
349
CHG001 Chagas Disease 65 0.135
350
ECH003 Echinococcosis 52 0.135
351
URN003 Urinary Schistosomiasis 45 0.135
352
P GND004 Gonadal Dysgenesis 46 0.135
353
P CTR002 Cataract 59 0.135
354
P ART018 Aortic Valve Insufficiency 52 0.135
355
PRS024 Parasagittal Meningioma 26 0.135
356
EXT034 Extrinsic Allergic Alveolitis 56 0.135
357
P MYL006 Myeloid Leukemia 60 0.135
358
PRT029 Parathyroid Adenoma 51 0.135
359
SCR017 Scrotum Neoplasm 23 0.135
360
P ENC004 Encephalitis 61 0.135
361
CWP001 Cowpox 44 0.135
362
c SPR009 Sporadic Breast Cancer 42 0.135
363
CHR066 Chronic Fatigue Syndrome 59 0.135
364
ETN001 Eating Disorder 59 0.135
365
MLG079 Malignant Pleural Mesothelioma 42 0.135
366
HRP009 Herpes Simplex Encephalitis 58 0.135
367
MRG007 Morgellons 15 0.135
368
SML019 Smallpox 55 0.135
369
INT043 Intestinal Disaccharidase Deficiency 25 0.135
370
OVR073 Ovarian Remnant Syndrome 14 0.135
371
FXD003 Fixed Drug Eruption 34 0.135
372
PLY100 Polyploidy 36 0.135
373
P TRM003 Tremor 50 0.135
374
PST092 Posttransplant Acute Limbic Encephalitis 29 0.135
375
VRS002 Virus-Associated Trichodysplasia Spinulosa 30 0.135
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