1 |
|
Coiled-Coil And C2 Domain Containing 1A |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation
58
|
|
2 |
|
Trafficking Protein Particle Complex Subunit 9 |
Protein Coding |
750 |
Pathogenic
5
Causative germline mutation (loss of function)
58
|
|
3 |
|
Eukaryotic Translation Elongation Factor 1 Delta |
Protein Coding |
400 |
Pathogenic
5
|
|
4 |
|
LHFPL Tetraspan Subfamily Member 5 |
Protein Coding |
400 |
Pathogenic
5
|
|
5 |
|
AlkB Homolog 8, TRNA Methyltransferase |
Protein Coding |
358.76 |
Causative germline mutation (loss of function)
58
GeneCards inferred via
:
Summaries
(show sections)
|
|
6 |
|
ATP Binding Cassette Subfamily A Member 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
7 |
|
Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
8 |
|
Beta-1,3-N-Acetylgalactosaminyltransferase 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
9 |
|
Chromosome 12 Open Reading Frame 4 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
10 |
|
Choline Kinase Alpha |
Protein Coding |
350 |
Causative germline mutation
58
|
|
11 |
|
CAP-Gly Domain Containing Linker Protein 1 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
12 |
|
CASP2 And RIPK1 Domain Containing Adaptor With Death Domain |
Protein Coding |
350 |
Causative germline mutation
58
|
|
13 |
|
Cereblon |
Protein Coding |
350 |
Causative germline mutation
58
|
|
14 |
|
Decapping Enzyme, Scavenger |
Protein Coding |
350 |
Causative germline mutation
58
|
|
15 |
|
Enhancer Of MRNA Decapping 3 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
16 |
|
Eukaryotic Translation Elongation Factor 1 Beta 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
17 |
|
Ezrin |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
18 |
|
F-Box Protein 31 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
19 |
|
Formin 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
20 |
|
Ferric Chelate Reductase 1 Like |
Protein Coding |
350 |
Causative germline mutation
58
|
|
21 |
|
Gem Nuclear Organelle Associated Protein 5 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
22 |
|
Glutamate Ionotropic Receptor AMPA Type Subunit 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
23 |
|
Glutamate Ionotropic Receptor Kainate Type Subunit 2 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
24 |
|
Glutamate Metabotropic Receptor 7 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
25 |
|
Histamine N-Methyltransferase |
Protein Coding |
350 |
Causative germline mutation
58
|
|
26 |
|
Inositol Monophosphatase 1 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
27 |
|
IQ Motif And Sec7 Domain ArfGEF 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
28 |
|
Lysine Demethylase 5B |
Protein Coding |
350 |
Causative germline mutation
58
|
|
29 |
|
Lines Homolog 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
30 |
|
Lectin, Mannose Binding 2 Like |
Protein Coding |
350 |
Causative germline mutation
58
|
|
31 |
|
Mannosidase Alpha Class 1B Member 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
32 |
|
Membrane Bound O-Acyltransferase Domain Containing 7 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
33 |
|
Mediator Complex Subunit 23 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
34 |
|
Mediator Complex Subunit 25 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
35 |
|
Methyltransferase Like 23 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
36 |
|
N-Alpha-Acetyltransferase 20, NatB Catalytic Subunit |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
37 |
|
Neurochondrin |
Protein Coding |
350 |
Causative germline mutation
58
|
|
38 |
|
N-Deacetylase And N-Sulfotransferase 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
39 |
|
Nuclear Export Mediator Factor |
Protein Coding |
350 |
Causative germline mutation
58
|
|
40 |
|
NOP2/Sun RNA Methyltransferase 2 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
41 |
|
Post-GPI Attachment To Proteins Inositol Deacylase 1 |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
42 |
|
Phosphatidylinositol Glycan Anchor Biosynthesis Class C |
Protein Coding |
350 |
Causative germline mutation
58
|
|
43 |
|
Serine Protease 12 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
44 |
|
Arginine And Serine Rich Coiled-Coil 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
45 |
|
Seryl-TRNA Synthetase 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
46 |
|
Solute Carrier Family 45 Member 1 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
47 |
|
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 |
Protein Coding |
350 |
Causative germline mutation
58
|
|
48 |
|
Trans-2,3-Enoyl-CoA Reductase |
Protein Coding |
350 |
Causative germline mutation
58
|
|
49 |
|
TRAF2 And NCK Interacting Kinase |
Protein Coding |
350 |
Causative germline mutation (loss of function)
58
|
|
50 |
|
Translocated Promoter Region, Nuclear Basket Protein |
Protein Coding |
350 |
Causative germline mutation
58
|
|