Search results for ELANE

166 hits were found for ELANE

# Family MCID Name MIFTS Score
2
CYC010 Cyclic Neutropenia 62 5.145
3
c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36 4.392
4
P NTR004 Neutropenia 63 4.074
5
c SVR003 Severe Congenital Neutropenia 59 3.460
6
AST005 Asthma 76 2.697
7
P PLM037 Pulmonary Hypertension 67 2.697
8
P ADL010 Adult Respiratory Distress Syndrome 65 2.697
9
GNG013 Gingivitis 59 2.388
10
c SYS001 Systemic Lupus Erythematosus 86 2.336
11
MLR004 Malaria 81 2.336
12
CYS001 Cystic Fibrosis 81 2.336
13
P RHM011 Rheumatoid Arthritis 80 2.336
14
P RSP003 Respiratory Failure 74 2.336
15
P ASP006 Aspergillosis 69 2.336
16
P PNM007 Pneumonia 68 2.336
17
BRN024 Bronchitis 68 2.336
18
P PLM036 Pulmonary Fibrosis 65 2.336
19
P CTS001 Cutis Laxa 65 2.336
20
KWS002 Kawasaki Disease 65 2.336
21
ALP103 Alpha-1-Antitrypsin Deficiency 64 2.336
22
ACT119 Acute Promyelocytic Leukemia 63 2.336
23
P PSR002 Psoriasis 62 2.336
24
P VSC011 Vasculitis 62 2.336
25
P PNC044 Pancreatitis 61 2.336
26
NTH001 Netherton Syndrome 60 2.336
27
c ACT027 Acute Pancreatitis 60 2.336
28
LNG099 Lung Disease 60 2.336
29
P BRN022 Bronchiectasis 59 2.336
30
P GLM007 Glomerulonephritis 57 2.336
31
DSS009 Disseminated Intravascular Coagulation 57 2.336
32
P PLM034 Pulmonary Emphysema 55 2.336
33
P INF037 Inflammatory Bowel Disease 54 2.336
34
CHR005 Chorioamnionitis 51 2.336
35
BCT022 Bacterial Infectious Disease 56 2.073
36
P PRD008 Periodontitis 64 1.968
37
PRT036 Peritonitis 64 1.940
38
PLM134 Pulmonary Fibrosis, Idiopathic 77 1.907
39
PLM129 Pulmonary Disease, Chronic Obstructive 73 1.907
40
OTT002 Otitis Media 72 1.907
41
c LKM063 Leukemia, Chronic Myeloid 72 1.907
42
GST092 Gastroesophageal Reflux 67 1.907
43
P CRD119 Cardiac Arrest 67 1.907
44
P CHR012 Chronic Granulomatous Disease 67 1.907
45
GRN037 Granulomatosis with Polyangiitis 65 1.907
46
c HRD002 Hereditary Angioedema 60 1.907
47
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 1.907
48
IDP011 Idiopathic Interstitial Pneumonia 59 1.907
49
NWB001 Newborn Respiratory Distress Syndrome 58 1.907
50
EXT034 Extrinsic Allergic Alveolitis 58 1.907
51
c CHL119 Cholangitis, Primary Sclerosing 57 1.907
52
BRN056 Bronchopulmonary Dysplasia 57 1.907
53
CHR100 Chronic Ulcer of Skin 55 1.907
54
CPL003 Capillary Leak Syndrome 55 1.907
55
P VNS003 Venous Insufficiency 55 1.907
56
BRN014 Bronchopneumonia 54 1.907
57
BRN038 Bronchial Disease 53 1.907
58
FLT011 Felty Syndrome 52 1.907
59
ONC002 Onchocerciasis 52 1.907
60
STT002 Status Asthmaticus 50 1.907
61
ERY004 Erysipelas 49 1.907
62
IMP004 Impetigo 49 1.907
63
c BCT013 Bacterial Pneumonia 48 1.907
64
PST062 Pustulosis Palmaris Et Plantaris 47 1.907
65
ART006 Arthus Reaction 44 1.907
66
BCT021 Bacterial Sepsis 44 1.907
67
P RPD001 Rapidly Progressive Glomerulonephritis 44 1.907
68
EXC002 Exocrine Pancreatic Insufficiency 42 1.907
69
CRB086 Cerebral Aneurysms 40 1.907
70
FRM003 Farmer's Lung 39 1.907
71
P OTT001 Otitis Externa 39 1.907
72
P PST059 Pustular Psoriasis 37 1.907
73
PST010 Pasteurellosis 34 1.907
74
c SVR012 Severe Congenital Neutropenia Autosomal Dominant 28 1.453
75
P HRD209 Hereditary Angioedema with Normal C1inh 31 1.425
76
c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51 1.392
77
c SVR103 Severe Congenital Neutropenia 1 19 1.392
78
c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17 1.392
79
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 1.348
80
P PRM011 Primary Ciliary Dyskinesia 69 1.348
81
c PRD013 Periodic Fever, Familial, Autosomal Dominant 67 1.348
82
P SHW006 Shwachman-Diamond Syndrome 1 67 1.348
83
PPL049 Papillon-Lefevre Syndrome 65 1.348
84
WHM001 Whim Syndrome 61 1.348
85
ING001 Inguinal Hernia 60 1.348
86
HRP009 Herpes Simplex Encephalitis 52 1.348
87
GNG011 Gingival Disease 45 1.348
88
BLC012 Bile Acid Malabsorption, Primary 45 1.348
89
ELP001 Elephantiasis 41 1.348
90
CRT046 Corticosteroid-Binding Globulin Deficiency 38 1.348
91
CRD016 Cardiac Rupture 37 1.348
92
c ATM104 Autoimmune Vasculitis 37 1.348
93
LGN005 Ligneous Conjunctivitis 31 1.348
94
IMP001 Impetigo Herpetiformis 27 1.348
95
MDD015 Mid-Dermal Elastolysis 27 1.348
96
c PSR034 Psoriasis 15 27 1.348
97
PLS010 Plasma Protein Metabolism Disease 24 1.348
98
c ATS475 Autosomal Dominant Non-Syndromic Intellectual Disability 24 20 1.348
99
c LKM061 Leukemia, Acute Myeloid 84 0.074
100
P TRN020 Turner Syndrome 67 0.074
101
ANG054 Angina Pectoris 66 0.074
102
c ACT073 Acute Leukemia 58 0.074
103
ISC004 Ischemia 58 0.074
104
LYM021 Lymphadenitis 57 0.074
105
P END033 Endocarditis 57 0.074
106
CLL003 Cellulitis 54 0.074
107
STM007 Stomatitis 50 0.074
108
48X005 48,xyyy 39 0.074
109
CRV030 Cervical Adenitis 38 0.074
110
NTR036 Neutropenia, Severe Congenital, X-Linked 30 0.074
111
P PRS040 Prostate Cancer 97 0.052
112
P ALZ034 Alzheimer Disease 88 0.052
113
STR067 Stroke, Ischemic 81 0.052
114
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.052
115
CRH001 Crohn's Disease 74 0.052
116
c HYP836 Hypercholesterolemia, Familial, 1 73 0.052
117
c THR092 Thrombophilia Due to Thrombin Defect 73 0.052
118
P FML018 Familial Mediterranean Fever 73 0.052
119
P KDN018 Kidney Disease 72 0.052
120
P MLT020 Multiple Sclerosis 72 0.052
121
P GRF003 Graft-Versus-Host Disease 72 0.052
122
c CHR684 Chronic Kidney Disease 70 0.052
123
P LKM002 Leukemia 68 0.052
124
P THR014 Thrombocytopenia 67 0.052
125
CRB039 Cerebrovascular Disease 67 0.052
126
P HYP098 Hypereosinophilic Syndrome 67 0.052
127
P ATR011 Atrial Fibrillation 66 0.052
128
c FML001 Familial Atrial Fibrillation 65 0.052
129
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.052
130
P PRS038 Personality Disorder 65 0.052
131
BRC012 Brucellosis 64 0.052
132
P ANR048 Aniridia 1 63 0.052
133
c MLG084 Malignant Fibrous Histiocytoma 63 0.052
134
c ACT068 Acute Cystitis 63 0.052
135
ANR007 Anorexia Nervosa 63 0.052
136
P TRC086 Trichohepatoenteric Syndrome 1 62 0.052
137
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.052
138
FTT001 Fatty Liver Disease 61 0.052
139
APP008 Appendicitis 61 0.052
140
P MYL006 Myeloid Leukemia 60 0.052
141
CRD223 Cardiac Arrhythmia 60 0.052
142
ACN002 Acanthosis Nigricans 60 0.052
143
P CTR002 Cataract 60 0.052
144
P EXN002 Exanthem 57 0.052
145
TNS005 Tonsillitis 57 0.052
146
PHR003 Pharyngitis 57 0.052
147
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.052
148
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.052
149
THR013 Thoracic Outlet Syndrome 54 0.052
150
CLR030 Clear Cell Renal Cell Carcinoma 53 0.052
151
INF034 Infective Endocarditis 53 0.052
152
GSG001 Gas Gangrene 53 0.052
153
END086 End Stage Renal Disease 51 0.052
154
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.052
155
RSP002 Respiratory Syncytial Virus Infectious Disease 51 0.052
156
P ART018 Aortic Valve Insufficiency 49 0.052
157
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.052
158
VTM033 Vitamin K Deficiency Bleeding 48 0.052
159
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.052
160
SPC005 Speech Disorder 43 0.052
161
SNL007 Senile Cataract 42 0.052
162
ATX010 Ataxia Neuropathy Spectrum 34 0.052
163
ACT064 Acute Necrotizing Encephalitis 33 0.052
164
c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 26 0.052
165
IMM002 Immature Cataract 25 0.052
166
BLD137 Blood Group--Ahonen 16 0.052
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