Search results for efemp2

85 hits were found for efemp2

# Family MCID Name MIFTS Score
2
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45 52.025
3
c ATS393 Autosomal Recessive Cutis Laxa Type I 49 46.910
5
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45 21.316
6
P CTS001 Cutis Laxa 64 19.168
7
ART016 Aortic Aneurysm 68 14.814
8
c ART115 Aortic Valve Disease 1 72 12.236
9
ANR040 Aneurysm 60 12.011
10
DYN002 Doyne Honeycomb Retinal Dystrophy 44 10.329
11
ART074 Aortic Dissection 53 10.160
12
c CTS045 Cutis Laxa, Autosomal Dominant 1 52 9.991
13
ART001 Arterial Tortuosity Syndrome 64 9.755
14
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 7.234
15
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 7.234
16
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50 7.234
17
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46 7.064
18
SPR004 Supravalvular Aortic Stenosis 57 7.064
19
GRD005 Geroderma Osteodysplasticum 48 7.064
20
P LYS001 Loeys-Dietz Syndrome 65 7.064
21
OCC006 Occipital Horn Syndrome 53 7.064
22
c DPH024 Diaphragmatic Hernia, Congenital 63 7.064
23
MST021 Meester-Loeys Syndrome 37 7.064
24
c LYS021 Loeys-Dietz Syndrome 3 57 7.064
25
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37 7.064
26
c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43 7.064
27
BLD045 Bladder Diverticulum 39 7.064
28
c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48 7.064
29
URT023 Ureteric Orifice Cancer 27 7.064
30
ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35 7.064
31
TRC007 Tricuspid Valve Prolapse 35 7.064
32
P ART018 Aortic Valve Insufficiency 52 7.064
33
P BRS047 Breast Cancer 97 1.998
34
GLM045 Glioma 62 1.764
35
GLL048 Glial Tumor 51 1.764
36
P BLD134 Bladder Cancer 79 1.379
37
P LNG032 Lung Cancer 98 1.304
38
P BRS053 Breast Fibroadenoma 48 1.304
39
GLB002 Glioblastoma 67 1.277
40
HGH043 High Grade Glioma 46 1.217
41
P PLM034 Pulmonary Emphysema 58 1.217
42
HYP706 Hypermobile Ehlers-Danlos Syndrome 54 1.183
43
CYN002 Cyanosis, Transient Neonatal 43 1.147
44
P ANT088 Anterior Segment Dysgenesis 54 1.147
45
P CLR023 Colorectal Cancer 100 1.107
46
CNN005 Connective Tissue Disease 66 1.062
47
HRN026 Hernia, Hiatus 46 1.008
48
CLB002 Clubfoot 50 1.008
49
MRF001 Marfan Syndrome 76 0.942
50
P OVR082 Overgrowth Syndrome 41 0.942
51
P OST135 Osteogenesis Imperfecta, Type I 60 0.773
52
MRD002 Marden-Walker Syndrome 56 0.773
53
BRT054 Brittle Bone Disorder 74 0.773
54
P LRS001 Larsen Syndrome 61 0.773
55
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.773
56
c OST080 Osteogenesis Imperfecta, Type Ii 55 0.773
57
P VSC007 Vascular Disease 62 0.773
58
CNG054 Congenital Aneurysms of the Great Vessels 4 0.773
59
P PNC035 Pancreatic Cancer 87 0.602
60
THY123 Thyroid Gland Follicular Carcinoma 53 0.517
61
WRN001 Werner Syndrome 69 0.339
62
FND002 Fundus Dystrophy 54 0.339
63
c INH030 Inherited Retinal Disorder 28 0.339
64
PPL052 Papillomatosis, Confluent and Reticulated 34 0.239
65
ADR016 Adrenal Cortical Carcinoma 61 0.239
66
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.239
67
ADR004 Adrenal Cortical Adenocarcinoma 38 0.239
68
P SZR006 Seizure Disorder 69 0.239
69
BRN032 Brain Glioma 45 0.169
70
DCT002 Ductal Carcinoma in Situ 58 0.169
71
RTN017 Retinal Detachment 60 0.169
72
NRL016 Neural Tube Defects 80 0.169
73
EHL052 Ehlers-Danlos Syndrome, Vascular Type 63 0.169
74
P GST053 Gastric Cancer 82 0.169
75
P SPP010 Suppressor of Tumorigenicity 3 50 0.169
76
END057 Endometrial Cancer 76 0.169
77
P CYS018 Cystitis 58 0.169
78
P HMR003 Hemorrhagic Disease 59 0.169
79
P BNG032 Benign Mesothelioma 53 0.169
80
P INT143 Interstitial Cystitis 59 0.169
81
P MYP006 Myopia 55 0.169
82
P MCR010 Microcephaly 59 0.169
83
OLG003 Oligohydramnios 50 0.169
84
P INS002 in Situ Carcinoma 52 0.169
85
MLG079 Malignant Pleural Mesothelioma 42 0.169
Content
Loading form....