Search results for TMEM67
86 hits were found for TMEM67
# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
5.647 |
|
2 |
|
c
|
JBR015 |
Joubert Syndrome 6 |
45 |
5.497 |
|
3 |
|
c
|
NPH053 |
Nephronophthisis 11 |
44 |
5.063 |
|
4 |
|
|
CCH002 |
Coach Syndrome |
55 |
4.825 |
|
5 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
4.448 |
|
6 |
|
|
RHY001 |
Rhyns Syndrome |
38 |
4.306 |
|
7 |
|
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
47 |
4.157 |
|
8 |
|
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
4.073 |
|
9 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
3.558 |
|
10 |
|
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
3.380 |
|
11 |
|
|
PTH003 |
Pathologic Nystagmus |
52 |
2.780 |
|
12 |
|
P
|
KDN018 |
Kidney Disease |
72 |
2.687 |
|
13 |
|
|
OLG003 |
Oligohydramnios |
51 |
2.666 |
|
14 |
|
|
CLP005 |
Ciliopathy |
43 |
2.263 |
|
15 |
|
|
PRT036 |
Peritonitis |
64 |
2.219 |
|
16 |
|
P
|
PNC044 |
Pancreatitis |
61 |
2.219 |
|
17 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
2.219 |
|
18 |
|
P
|
TRM003 |
Tremor |
54 |
2.219 |
|
19 |
|
|
CLB010 |
Coloboma of Macula |
52 |
2.219 |
|
20 |
|
c
|
CRB209 |
Cerebellar Malformation |
22 |
2.219 |
|
21 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
2.138 |
|
22 |
|
P
|
ENC008 |
Encephalocele |
47 |
2.138 |
|
23 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
2.104 |
|
24 |
|
P
|
HYP083 |
Hypopituitarism |
53 |
2.104 |
|
25 |
|
|
APR001 |
Apraxia |
52 |
2.104 |
|
26 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
41 |
2.104 |
|
27 |
|
|
MCR013 |
Microphthalmia |
57 |
2.065 |
|
28 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
2.065 |
|
29 |
|
P
|
CLB034 |
Coloboma, Ocular, Autosomal Dominant |
47 |
1.641 |
|
30 |
|
|
CLB009 |
Coloboma of Iris |
28 |
1.641 |
|
31 |
|
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
1.512 |
|
32 |
|
P
|
CNG048 |
Congenital Hepatic Fibrosis |
38 |
1.512 |
|
33 |
|
|
SNR014 |
Senior-Boichis Syndrome |
14 |
1.512 |
|
34 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
1.460 |
|
35 |
|
|
LBR036 |
Leber Plus Disease |
66 |
1.460 |
|
36 |
|
P
|
CRN108 |
Cranioectodermal Dysplasia 1 |
62 |
1.460 |
|
37 |
|
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
60 |
1.460 |
|
38 |
|
c
|
PLY172 |
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease |
57 |
1.460 |
|
39 |
|
P
|
OST122 |
Osteogenesis Imperfecta, Type Iii |
57 |
1.460 |
|
40 |
|
|
PLY023 |
Polycystic Liver Disease |
57 |
1.460 |
|
41 |
|
P
|
SNR003 |
Senior-Loken Syndrome 1 |
56 |
1.460 |
|
42 |
|
|
FND002 |
Fundus Dystrophy |
55 |
1.460 |
|
43 |
|
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
55 |
1.460 |
|
44 |
|
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
55 |
1.460 |
|
45 |
|
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
1.460 |
|
46 |
|
P
|
VSC013 |
Visceral Heterotaxy |
52 |
1.460 |
|
47 |
|
c
|
JBR018 |
Joubert Syndrome 4 |
51 |
1.460 |
|
48 |
|
c
|
NPH030 |
Nephronophthisis 2 |
50 |
1.460 |
|
49 |
|
|
KRT010 |
Kartagener Syndrome |
50 |
1.460 |
|
50 |
|
c
|
JBR004 |
Joubert Syndrome 2 |
48 |
1.460 |
|
51 |
|
P
|
ORF001 |
Orofaciodigital Syndrome |
48 |
1.460 |
|
52 |
|
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
1.460 |
|
53 |
|
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
1.460 |
|
54 |
|
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
1.460 |
|
55 |
|
c
|
JBR011 |
Joubert Syndrome 7 |
46 |
1.460 |
|
56 |
|
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
1.460 |
|
57 |
|
c
|
MCK012 |
Meckel Syndrome, Type 6 |
46 |
1.460 |
|
58 |
|
c
|
NPH071 |
Nephronophthisis 14 |
45 |
1.460 |
|
59 |
|
c
|
NPH068 |
Nephronophthisis 16 |
44 |
1.460 |
|
60 |
|
c
|
NPH035 |
Nephronophthisis 9 |
44 |
1.460 |
|
61 |
|
c
|
JBR014 |
Joubert Syndrome 9 |
43 |
1.460 |
|
62 |
|
|
PHY002 |
Physical Disorder |
42 |
1.460 |
|
63 |
|
c
|
JBR013 |
Joubert Syndrome 8 |
42 |
1.460 |
|
64 |
|
c
|
JBR028 |
Joubert Syndrome 13 |
42 |
1.460 |
|
65 |
|
c
|
MCK034 |
Meckel Syndrome, Type 8 |
41 |
1.460 |
|
66 |
|
c
|
JBR016 |
Joubert Syndrome 10 |
41 |
1.460 |
|
67 |
|
c
|
NPH033 |
Nephronophthisis 7 |
41 |
1.460 |
|
68 |
|
P
|
MNN007 |
Meningocele |
39 |
1.460 |
|
69 |
|
c
|
NPH077 |
Nephronophthisis 19 |
38 |
1.460 |
|
70 |
|
P
|
PLY006 |
Polydactyly |
59 |
0.108 |
|
71 |
|
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
48 |
0.088 |
|
72 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.088 |
|
73 |
|
|
CRB037 |
Cerebral Palsy |
69 |
0.063 |
|
74 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.063 |
|
75 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.063 |
|
76 |
|
c
|
ACT068 |
Acute Cystitis |
63 |
0.063 |
|
77 |
|
P
|
VNT002 |
Ventricular Septal Defect |
60 |
0.063 |
|
78 |
|
|
PRT013 |
Portal Hypertension |
59 |
0.063 |
|
79 |
|
P
|
MCR010 |
Microcephaly |
59 |
0.063 |
|
80 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.063 |
|
81 |
|
|
RTN023 |
Retinitis |
46 |
0.063 |
|
82 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.063 |
|
83 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.063 |
|
84 |
|
|
OCL015 |
Oculomotor Apraxia |
37 |
0.063 |
|
85 |
|
|
OCC011 |
Occipital Encephalocele |
29 |
0.063 |
|
86 |
|
|
ISL112 |
Isolated Congenital Hepatic Fibrosis |
10 |
0.063 |
|