Search results for B3GAT3
56 hits were found for B3GAT3
# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MLT162 |
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects |
42 |
15.698 |
|
2 |
|
|
LRS010 |
Larsen-Like Syndrome B3gat3 Type |
20 |
11.065 |
|
3 |
|
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
63 |
3.052 |
|
4 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
3.052 |
|
5 |
|
P
|
DSB002 |
Desbuquois Dysplasia |
32 |
2.262 |
|
6 |
|
P
|
LRS001 |
Larsen Syndrome |
62 |
2.217 |
|
7 |
|
|
TMT002 |
Temtamy Preaxial Brachydactyly Syndrome |
50 |
2.217 |
|
8 |
|
|
GRD005 |
Geroderma Osteodysplasticum |
49 |
2.217 |
|
9 |
|
|
EHL015 |
Ehlers-Danlos Syndrome Progeroid Type |
45 |
2.217 |
|
10 |
|
P
|
RDL002 |
Radioulnar Synostosis |
45 |
2.217 |
|
11 |
|
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
63 |
2.158 |
|
12 |
|
P
|
ORT004 |
Orthostatic Intolerance |
62 |
2.158 |
|
13 |
|
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
42 |
2.158 |
|
14 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
2.158 |
|
15 |
|
|
HYP748 |
Hypertelorism |
50 |
0.123 |
|
16 |
|
P
|
SCL018 |
Scoliosis |
60 |
0.100 |
|
17 |
|
P
|
VNT002 |
Ventricular Septal Defect |
60 |
0.100 |
|
18 |
|
P
|
EHL001 |
Ehlers-Danlos Syndrome |
58 |
0.100 |
|
19 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.100 |
|
20 |
|
c
|
LRS002 |
Larsen-Like Syndrome |
38 |
0.100 |
|
21 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.071 |
|
22 |
|
P
|
HRT032 |
Heart Disease |
75 |
0.071 |
|
23 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.071 |
|
24 |
|
P
|
PSD087 |
Pseudoxanthoma Elasticum |
65 |
0.071 |
|
25 |
|
P
|
SHR029 |
Short Syndrome |
63 |
0.071 |
|
26 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.071 |
|
27 |
|
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
62 |
0.071 |
|
28 |
|
|
ING001 |
Inguinal Hernia |
60 |
0.071 |
|
29 |
|
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
55 |
0.071 |
|
30 |
|
P
|
MYP006 |
Myopia |
55 |
0.071 |
|
31 |
|
|
MYP159 |
Myopathy, Proximal, with Ophthalmoplegia |
55 |
0.071 |
|
32 |
|
|
HYP706 |
Hypermobile Ehlers-Danlos Syndrome |
53 |
0.071 |
|
33 |
|
P
|
BRT029 |
Brittle Cornea Syndrome 2 |
50 |
0.071 |
|
34 |
|
c
|
HRD202 |
Hereditary Lymphedema I |
50 |
0.071 |
|
35 |
|
|
HRT011 |
Heart Septal Defect |
50 |
0.071 |
|
36 |
|
c
|
DSB006 |
Desbuquois Dysplasia 1 |
48 |
0.071 |
|
37 |
|
P
|
CLL015 |
Collagen Disease |
47 |
0.071 |
|
38 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.071 |
|
39 |
|
|
SYN005 |
Synostosis |
45 |
0.071 |
|
40 |
|
|
HPT082 |
Hepatic Adenomas, Familial |
44 |
0.071 |
|
41 |
|
|
RFR003 |
Refractive Error |
43 |
0.071 |
|
42 |
|
|
ORB013 |
Orbital Disease |
42 |
0.071 |
|
43 |
|
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
41 |
0.071 |
|
44 |
|
|
PCD001 |
Pica Disease |
41 |
0.071 |
|
45 |
|
P
|
MSC134 |
Musculocontractural Ehlers-Danlos Syndrome |
40 |
0.071 |
|
46 |
|
|
ANG004 |
Angioid Streaks |
39 |
0.071 |
|
47 |
|
|
ADP007 |
Adie Pupil |
39 |
0.071 |
|
48 |
|
|
CHN064 |
Chondrodysplasia-Pseudohermaphroditism Syndrome |
37 |
0.071 |
|
49 |
|
|
SPN331 |
Spondyloocular Syndrome |
36 |
0.071 |
|
50 |
|
|
ENP001 |
Enophthalmos |
35 |
0.071 |
|
51 |
|
|
PCT001 |
Pectus Carinatum |
35 |
0.071 |
|
52 |
|
c
|
CLR069 |
Ciliary Dyskinesia, Primary, 8 |
29 |
0.071 |
|
53 |
|
c
|
CLR067 |
Ciliary Dyskinesia, Primary, 4 |
29 |
0.071 |
|
54 |
|
|
CNG065 |
Congenital Contractures |
27 |
0.071 |
|
55 |
|
|
HNM002 |
Hinman Syndrome |
27 |
0.071 |
|
56 |
|
c
|
TYP003 |
Type I Ehlers-Danlos Syndrome |
27 |
0.071 |
|