| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ABCB11 |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
150 |
114 |
2 |
| ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
113 |
95 |
2 |
| ACADM |
MCAD acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain |
76 |
73 |
4 |
| ACADVL |
VLCAD acyl-Coenzyme A dehydrogenase, very long chain |
84 |
81 |
2 |
| ACTB |
actin, beta |
0 |
0 |
0 |
| ADA |
adenosine deaminase |
0 |
0 |
0 |
| ADAM17 |
ADAM metallopeptidase domain 17 |
0 |
0 |
0 |
| ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
0 |
0 |
0 |
| ADRBK2 |
adrenergic, beta, receptor kinase 2 |
0 |
0 |
0 |
| AICDA |
activation-induced cytidine deaminase |
0 |
0 |
0 |
| AIRE |
autoimmune regulator |
0 |
0 |
0 |
| AK2 |
adenylate kinase 2 |
0 |
0 |
0 |
| AP3B1 |
adaptor-related protein complex 3, beta 1 subunit |
0 |
0 |
0 |
| APOL1 |
apolipoprotein L, 1 |
0 |
0 |
0 |
| ATM |
ataxia telangiectasia mutated |
0 |
0 |
0 |
| ATP8B1 |
ATPase, class I, type 8B, member 1 |
89 |
87 |
2 |
| BLM |
Bloom syndrome, RecQ helicase-like |
0 |
0 |
0 |
| BLNK |
B-cell linker |
0 |
0 |
0 |
| BLOC1S3 |
biogenesis of lysosomal organelles complex-1, subunit 3 |
0 |
0 |
0 |
| BLOC1S6 |
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin |
0 |
0 |
0 |
| BRCA2 |
breast cancer 2, early onset |
0 |
0 |
0 |
| BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
0 |
0 |
0 |
| BTK |
Bruton agammaglobulinemia tyrosine kinase |
0 |
0 |
0 |
| C1QA |
complement component 1, q subcomponent, A chain |
0 |
0 |
0 |
| C1QB |
complement component 1, q subcomponent, B chain |
0 |
0 |
0 |
| C1QC |
complement component 1, q subcomponent, C chain |
0 |
0 |
0 |
| C1R |
complement component 1, r subcomponent |
0 |
0 |
0 |
| C1S |
complement component 1, s subcomponent |
0 |
0 |
0 |
| C2 |
complement component 2 |
0 |
0 |
0 |
| C3 |
complement component 3 |
0 |
0 |
0 |
| C4A |
complement component 4A (Rodgers blood group) |
0 |
0 |
0 |
| C5 |
complement component 5 |
0 |
0 |
0 |
| C6 |
complement component 6 |
0 |
0 |
0 |
| C7 |
complement component 7 |
0 |
0 |
0 |
| C8A |
complement component 8, alpha polypeptide |
0 |
0 |
0 |
| C8B |
complement component 8, beta polypeptide |
0 |
0 |
0 |
| C9 |
complement component 9 |
0 |
0 |
0 |
| CARD11 |
caspase recruitment domain family, member 11 |
0 |
0 |
0 |
| CARD14 |
caspase recruitment domain family, member 14 |
0 |
0 |
0 |
| CARD8 |
caspase recruitment domain family, member 8 |
0 |
0 |
0 |
| CARD9 |
caspase recruitment domain family, member 9 |
0 |
0 |
0 |
| CASP10 |
caspase 10, apoptosis-related cysteine peptidase |
14 |
8 |
2 |
| CASP8 |
caspase 8, apoptosis-related cysteine peptidase |
0 |
0 |
0 |
| CD19 |
CD19 molecule |
0 |
0 |
0 |
| CD247 |
CD247 molecule |
0 |
0 |
0 |
| CD27 |
CD27 molecule |
0 |
0 |
0 |
| CD3D |
CD3d molecule, delta (CD3-TCR complex) |
0 |
0 |
0 |
| CD3E |
CD3e molecule, epsilon (CD3-TCR complex) |
0 |
0 |
0 |
| CD3G |
CD3g molecule, gamma (CD3-TCR complex) |
0 |
0 |
0 |
| CD40 |
CD40 molecule, TNF receptor superfamily member 5 |
0 |
0 |
0 |
| CD40LG |
CD40 ligand |
77 |
77 |
2 |
| CD59 |
CD59 molecule, complement regulatory protein |
0 |
0 |
0 |
| CD79A |
CD79a molecule, immunoglobulin-associated alpha |
0 |
0 |
0 |
| CD79B |
CD79b molecule, immunoglobulin-associated beta |
0 |
0 |
0 |
| CD81 |
CD81 molecule |
0 |
0 |
0 |
| CD8A |
CD8a molecule |
0 |
0 |
0 |
| CDH23 |
cadherin-like 23 |
193 |
159 |
2 |
| CEBPE |
CCAAT/enhancer binding protein (C/EBP), epsilon |
0 |
0 |
0 |
| CFD |
complement factor D (adipsin) |
0 |
0 |
0 |
| CFH |
complement factor H |
0 |
0 |
0 |
| CFI |
complement factor I |
0 |
0 |
0 |
| CFP |
complement factor properdin |
0 |
0 |
0 |
| CHD7 |
chromodomain helicase DNA binding protein 7 |
0 |
0 |
0 |
| CIITA |
class II, major histocompatibility complex, transactivator |
0 |
0 |
0 |
| CLEC7A |
C-type lectin domain family 7, member A |
0 |
0 |
0 |
| CLRN1 |
USH3A clarin 1 |
9 |
9 |
1 |
| COLEC11 |
collectin sub-family member 11 |
0 |
0 |
0 |
| CORO1A |
coronin, actin binding protein, 1A |
0 |
0 |
0 |
| CR2 |
complement component (3d/Epstein Barr virus) receptor 2 |
0 |
0 |
0 |
| CSF3R |
colony stimulating factor 3 receptor (granulocyte) |
0 |
0 |
0 |
| CTLA4 |
cytotoxic T-lymphocyte-associated protein 4 |
0 |
0 |
0 |
| CTSC |
cathepsin C |
0 |
0 |
0 |
| CXCR4 |
chemokine (C-X-C motif) receptor 4 |
0 |
0 |
0 |
| CYBA |
cytochrome b-245, alpha polypeptide |
0 |
0 |
0 |
| CYBB |
cytochrome b-245, beta polypeptide |
0 |
0 |
0 |
| DCLRE1C |
DNA cross-link repair 1C |
0 |
0 |
0 |
| DFNB31 |
deafness, autosomal recessive 31 |
20 |
20 |
2 |
| DKC1 |
dyskeratosis congenita 1, dyskerin |
0 |
0 |
0 |
| DNMT3B |
DNA (cytosine-5-)-methyltransferase 3 beta |
0 |
0 |
0 |
| DOCK8 |
dedicator of cytokinesis 8 |
0 |
0 |
0 |
| DTNBP1 |
dystrobrevin binding protein 1 |
0 |
0 |
0 |
| ELANE |
ELA2 elastase, neutrophil expressed |
82 |
82 |
3 |
| ERCC4 |
excision repair cross-complementation group 4 |
0 |
0 |
0 |
| FADD |
Fas (TNFRSF6)-associated via death domain |
0 |
0 |
0 |
| FANCA |
Fanconi anemia, complementation group A |
0 |
0 |
0 |
| FANCB |
Fanconi anemia, complementation group B |
0 |
0 |
0 |
| FANCC |
Fanconi anemia, complementation group C |
0 |
0 |
0 |
| FANCD2 |
Fanconi anemia, complementation group D2 |
0 |
0 |
0 |
| FANCE |
Fanconi anemia, complementation group E |
0 |
0 |
0 |
| FANCF |
Fanconi anemia, complementation group F |
0 |
0 |
0 |
| FANCG |
Fanconi anemia, complementation group G |
0 |
0 |
0 |
| FANCI |
Fanconi anemia, complementation group I |
0 |
0 |
0 |
| FANCL |
Fanconi anemia, complementation group L |
0 |
0 |
0 |
| FANCM |
Fanconi anemia, complementation group M |
0 |
0 |
0 |
| FAS |
Fas (TNF receptor superfamily, member 6) |
53 |
48 |
2 |
| FASLG |
Fas ligand (TNF superfamily, member 6) |
0 |
0 |
0 |
| FCGR2A |
Fc fragment of IgG, low affinity IIa, receptor (CD32) |
0 |
0 |
0 |
| FCN3 |
ficolin (collagen/fibrinogen domain containing) 3 |
0 |
0 |
0 |
| FERMT3 |
fermitin family member 3 |
0 |
0 |
0 |
| FOXN1 |
forkhead box N1 |
0 |
0 |
0 |
| FOXP3 |
forkhead box P3 |
25 |
24 |
2 |
| FPR1 |
formyl peptide receptor 1 |
0 |
0 |
0 |
| G6PC3 |
glucose 6 phosphatase, catalytic, 3 |
0 |
0 |
0 |
| G6PD |
glucose-6-phosphate dehydrogenase |
0 |
0 |
0 |
| GAA |
glucosidase, alpha; acid |
203 |
199 |
3 |
| GATA1 |
GATA binding protein 1 (globin transcription factor 1) |
0 |
0 |
0 |
| GATA2 |
GATA binding protein 2 |
0 |
0 |
0 |
| GBA |
Gaucher Disease; glucosidase, beta, acid |
279 |
273 |
2 |
| GFI1 |
growth factor independent 1 transcription repressor |
0 |
0 |
0 |
| GJB2 |
gap junction protein, beta 2, 26kDa |
236 |
227 |
8 |
| GJB6 |
gap junction protein, beta 6, 30kDa |
12 |
11 |
2 |
| GLA |
galactosidase, alpha |
386 |
386 |
4 |
| GPR98 |
G protein-coupled receptor 98 |
4 |
4 |
1 |
| GSS |
GSS glutathione synthetase |
0 |
0 |
0 |
| HAX1 |
HCLS1 associated protein X-1 |
16 |
16 |
2 |
| HPS1 |
Hermansky-Pudlak syndrome 1 |
0 |
0 |
0 |
| HPS3 |
Hermansky-Pudlak syndrome 3 |
0 |
0 |
0 |
| HPS4 |
Hermansky-Pudlak syndrome 4 |
0 |
0 |
0 |
| HPS5 |
Hermansky-Pudlak syndrome 5 |
0 |
0 |
0 |
| HPS6 |
Hermansky-Pudlak syndrome 6 |
0 |
0 |
0 |
| ICOS |
inducible T-cell co-stimulator |
0 |
0 |
0 |
| IFNGR1 |
interferon gamma receptor 1 |
0 |
0 |
0 |
| IFNGR2 |
interferon gamma receptor 2 (interferon gamma transducer 1) |
0 |
0 |
0 |
| IGLL1 |
immunoglobulin lambda-like polypeptide 1 |
0 |
0 |
0 |
| IKBKG |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
0 |
0 |
0 |
| IKZF1 |
IKAROS family zinc finger 1 (Ikaros) |
0 |
0 |
0 |
| IL10 |
interleukin 10 |
0 |
0 |
0 |
| IL10RA |
interleukin 10 receptor, alpha |
0 |
0 |
0 |
| IL10RB |
interleukin 10 receptor, beta |
0 |
0 |
0 |
| IL12B |
interleukin 12B |
0 |
0 |
0 |
| IL12RB1 |
interleukin 12 receptor, beta 1 |
0 |
0 |
0 |
| IL17F |
interleukin 17F |
0 |
0 |
0 |
| IL17RA |
interleukin 17 receptor A |
0 |
0 |
0 |
| IL1RN |
interleukin 1 receptor antagonist |
0 |
0 |
0 |
| IL21R |
interleukin 21 receptor |
0 |
0 |
0 |
| IL2RA |
interleukin 2 receptor, alpha |
0 |
0 |
0 |
| IL2RG |
interleukin 2 receptor, gamma (severe combined immunodeficiency) |
96 |
96 |
3 |
| IL36RN |
interleukin 36 receptor antagonist |
0 |
0 |
0 |
| IL7R |
interleukin 7 receptor |
0 |
0 |
0 |
| IRAK4 |
interleukin-1 receptor-associated kinase 4 |
0 |
0 |
0 |
| IRF8 |
interferon regulatory factor 8 |
0 |
0 |
0 |
| ISG15 |
ISG15 ubiquitin-like modifier |
0 |
0 |
0 |
| ITCH |
itchy E3 ubiquitin protein ligase |
0 |
0 |
0 |
| ITK |
IL2-inducible T-cell kinase |
0 |
0 |
0 |
| JAG1 |
jagged 1 (Alagille syndrome) |
158 |
156 |
4 |
| JAK3 |
Janus kinase 3 |
0 |
0 |
0 |
| KCNE1 |
potassium voltage-gated channel, Isk-related family, member 1 |
39 |
38 |
2 |
| KCNQ1 |
potassium voltage-gated channel, KQT-like subfamily, member 1 |
333 |
333 |
2 |
| KRAS |
Kirsten rat sarcoma viral oncogene homolog |
0 |
0 |
0 |
| LAD1 |
ladinin 1 |
0 |
0 |
0 |
| LAMTOR2 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 |
0 |
0 |
0 |
| LCK |
lymphocyte-specific protein tyrosine kinase |
0 |
0 |
0 |
| LIG4 |
ligase IV, DNA, ATP-dependent |
0 |
0 |
0 |
| LPIN2 |
lipin 2 |
0 |
0 |
0 |
| LRBA |
LPS-responsive vesicle trafficking, beach and anchor containing |
0 |
0 |
0 |
| LRRC8A |
leucine rich repeat containing 8 family, member A |
0 |
0 |
0 |
| LYST |
lysosomal trafficking regulator |
0 |
0 |
0 |
| MAGT1 |
magnesium transporter 1 |
0 |
0 |
0 |
| MALT1 |
mucosa associated lymphoid tissue lymphoma translocation gene 1 |
0 |
0 |
0 |
| MASP2 |
mannan-binding lectin serine peptidase 2 |
0 |
0 |
0 |
| MBL2 |
mannose-binding lectin (protein C) 2, soluble |
0 |
0 |
0 |
| MCM4 |
minichromosome maintenance complex component 4 |
0 |
0 |
0 |
| MECP2 |
methyl CpG binding protein 2 (Rett syndrome) |
356 |
254 |
2 |
| MEFV |
Mediterranean fever |
0 |
0 |
0 |
| MLPH |
melanophilin |
0 |
0 |
0 |
| MPL |
myeloproliferative leukemia virus oncogene |
0 |
0 |
0 |
| MRE11A |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
0 |
0 |
0 |
| MS4A1 |
membrane-spanning 4-domains, subfamily A, member 1 |
0 |
0 |
0 |
| MTHFD1 |
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase |
0 |
0 |
0 |
| MVK |
mevalonate kinase |
0 |
0 |
0 |
| MYD88 |
myeloid differentiation primary response 88 |
0 |
0 |
0 |
| MYO15A |
MYO15A myosin XVA |
0 |
0 |
0 |
| MYO6 |
myosin VI |
18 |
18 |
2 |
| MYO7A |
myosin VIIA |
160 |
152 |
3 |
| NBN |
nibrin |
0 |
0 |
0 |
| NCF1 |
neutrophil cytosolic factor 1 |
0 |
0 |
0 |
| NCF2 |
neutrophil cytosolic factor 2 |
0 |
0 |
0 |
| NCF4 |
neutrophil cytosolic factor 4, 40kDa |
0 |
0 |
0 |
| NFKBIA |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
0 |
0 |
0 |
| NHEJ1 |
nonhomologous end-joining factor 1 |
0 |
0 |
0 |
| NHP2 |
NHP2 ribonucleoprotein |
0 |
0 |
0 |
| NLRP12 |
NLR family, pyrin domain containing 12 |
0 |
0 |
0 |
| NLRP3 |
NLR family, pyrin domain containing 3 |
0 |
0 |
0 |
| NOD2 |
nucleotide-binding oligomerization domain containing 2 |
0 |
0 |
0 |
| NOP10 |
NOP10 ribonucleoprotein |
0 |
0 |
0 |
| NRAS |
neuroblastoma RAS viral (v-ras) oncogene homolog |
0 |
0 |
0 |
| ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
0 |
0 |
0 |
| OTOF |
otoferlin |
71 |
65 |
3 |
| PALB2 |
partner and localizer of BRCA2 |
0 |
0 |
0 |
| PCDH15 |
protocadherin 15 |
45 |
45 |
2 |
| PIGA |
phosphatidylinositol glycan anchor biosynthesis, class A |
0 |
0 |
0 |
| PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
0 |
0 |
0 |
| PIK3R1 |
phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
0 |
0 |
0 |
| PLCG2 |
phospholipase C, gamma 2 (phosphatidylinositol-specific) |
0 |
0 |
0 |
| PMS2 |
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
0 |
0 |
0 |
| PNP |
purine nucleoside phosphorylase |
0 |
0 |
0 |
| PRF1 |
perforin 1 (pore forming protein) |
101 |
97 |
3 |
| PRKDC |
protein kinase, DNA-activated, catalytic polypeptide |
0 |
0 |
0 |
| PSIP1 |
PC4 and SFRS1 interacting protein 1 |
1 |
1 |
1 |
| PSMB8 |
proteasome (prosome, macropain) subunit, beta type, 8 |
0 |
0 |
0 |
| PSTPIP1 |
proline-serine-threonine phosphatase interacting protein 1 |
0 |
0 |
0 |
| PTPRC |
protein tyrosine phosphatase, receptor type, C |
0 |
0 |
0 |
| RAB27A |
RAB27A, member RAS oncogene family |
17 |
17 |
2 |
| RAC2 |
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) |
0 |
0 |
0 |
| RAD50 |
RAD50 homolog (S. cerevisiae) |
0 |
0 |
0 |
| RAD51C |
RAD51 paralog C |
0 |
0 |
0 |
| RAG1 |
recombination activating gene 1 |
0 |
0 |
0 |
| RAG2 |
recombination activating gene 2 |
0 |
0 |
0 |
| RBCK1 |
RanBP-type and C3HC4-type zinc finger containing 1 |
0 |
0 |
0 |
| RBM8A |
RNA binding motif protein 8A |
0 |
0 |
0 |
| RFX5 |
regulatory factor X, 5 (influences HLA class II expression) |
0 |
0 |
0 |
| RFXANK |
regulatory factor X-associated ankyrin-containing protein |
0 |
0 |
0 |
| RFXAP |
regulatory factor X-associated protein |
0 |
0 |
0 |
| RHOH |
ras homolog family member H |
0 |
0 |
0 |
| RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
0 |
0 |
0 |
| RNF168 |
ring finger protein 168, E3 ubiquitin protein ligase |
0 |
0 |
0 |
| RPL11 |
ribosomal protein L11 |
0 |
0 |
0 |
| RPL15 |
ribosomal protein L15 |
0 |
0 |
0 |
| RPL26 |
ribosomal protein L26 |
0 |
0 |
0 |
| RPL35A |
ribosomal protein L35a |
0 |
0 |
0 |
| RPL5 |
ribosomal protein L5 |
0 |
0 |
0 |
| RPS10 |
ribosomal protein S10 |
0 |
0 |
0 |
| RPS17 |
ribosomal protein S17 |
0 |
0 |
0 |
| RPS19 |
ribosomal protein S19 |
0 |
0 |
0 |
| RPS24 |
ribosomal protein S24 |
0 |
0 |
0 |
| RPS26 |
ribosomal protein S26 |
0 |
0 |
0 |
| RPS7 |
ribosomal protein S7 |
0 |
0 |
0 |
| RTEL1 |
regulator of telomere elongation helicase 1 |
0 |
0 |
0 |
| SBDS |
Shwachman-Bodian-Diamond syndrome |
0 |
0 |
0 |
| SERPINA1 |
AAT serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
105 |
91 |
2 |
| SERPING1 |
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 |
0 |
0 |
0 |
| SH2D1A |
XLP SH2 domain protein 1A |
36 |
35 |
2 |
| SLC26A4 |
solute carrier family 26, member 4 |
191 |
189 |
3 |
| SLC35C1 |
solute carrier family 35 (GDP-fucose transporter), member C1 |
0 |
0 |
0 |
| SLC37A4 |
solute carrier family 37 (glucose-6-phosphate transporter), member 4 |
0 |
0 |
0 |
| SLC7A7 |
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 |
0 |
0 |
0 |
| SLX4 |
SLX4 structure-specific endonuclease subunit |
0 |
0 |
0 |
| SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
0 |
0 |
0 |
| SOCS1 |
suppressor of cytokine signaling 1 |
0 |
0 |
0 |
| SP110 |
SP110 nuclear body protein |
0 |
0 |
0 |
| SPINK5 |
serine peptidase inhibitor, Kazal type 5 |
0 |
0 |
0 |
| SRP72 |
signal recognition particle 72kDa |
0 |
0 |
0 |
| STAT1 |
signal transducer and activator of transcription 1, 91kDa |
0 |
0 |
0 |
| STAT3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
0 |
0 |
0 |
| STAT5B |
signal transducer and activator of transcription 5B |
0 |
0 |
0 |
| STIM1 |
stromal interaction molecule 1 |
0 |
0 |
0 |
| STK10 |
serine/threonine kinase 10 |
1 |
1 |
1 |
| STK4 |
serine/threonine kinase 4 |
0 |
0 |
0 |
| STX11 |
syntaxin 11 |
8 |
8 |
2 |
| STXBP2 |
syntaxin binding protein 2 |
20 |
20 |
2 |
| TAP1 |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
0 |
0 |
0 |
| TAP2 |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
0 |
0 |
0 |
| TAPBP |
TAP binding protein (tapasin) |
0 |
0 |
0 |
| TAZ |
tafazzin |
0 |
0 |
0 |
| TBK1 |
TANK-binding kinase 1 |
0 |
0 |
0 |
| TBX1 |
T-box 1 |
0 |
0 |
0 |
| TERC |
telomerase RNA component |
0 |
0 |
0 |
| TERT |
telomerase reverse transcriptase |
5 |
1 |
5 |
| TICAM1 |
toll-like receptor adaptor molecule 1 |
0 |
0 |
0 |
| TINF2 |
TERF1 (TRF1)-interacting nuclear factor 2 |
0 |
0 |
0 |
| TLR3 |
toll-like receptor 3 |
0 |
0 |
0 |
| TMC1 |
transmembrane channel-like 1 |
28 |
28 |
3 |
| TMC6 |
transmembrane channel-like 6 |
0 |
0 |
0 |
| TMC8 |
transmembrane channel-like 8 |
0 |
0 |
0 |
| TMIE |
transmembrane inner ear |
9 |
9 |
2 |
| TMPRSS3 |
transmembrane protease, serine 3 |
22 |
22 |
3 |
| TNFRSF13B |
tumor necrosis factor receptor superfamily, member 13B |
0 |
0 |
0 |
| TNFRSF13C |
tumor necrosis factor receptor superfamily, member 13C |
0 |
0 |
0 |
| TNFRSF1A |
tumor necrosis factor receptor superfamily, member 1A |
0 |
0 |
0 |
| TNKS |
tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
0 |
0 |
0 |
| TRAF3 |
TNF receptor-associated factor 3 |
0 |
0 |
0 |
| TTC7A |
tetratricopeptide repeat domain 7A |
0 |
0 |
0 |
| TYK2 |
tyrosine kinase 2 |
0 |
0 |
0 |
| UNC119 |
unc-119 homolog (C. elegans) |
0 |
0 |
0 |
| UNC13D |
unc-13 homolog D (C. elegans) |
39 |
39 |
2 |
| UNC93B1 |
unc-93 homolog B1 (C. elegans) |
0 |
0 |
0 |
| UNG |
uracil-DNA glycosylase |
0 |
0 |
0 |
| USB1 |
U6 snRNA biogenesis 1 |
0 |
0 |
0 |
| USH1C |
Usher syndrome 1C (autosomal recessive, severe) |
21 |
21 |
2 |
| USH1G |
Usher syndrome 1G (autosomal recessive) |
3 |
3 |
1 |
| USH2A |
Usher syndrome 2A (autosomal recessive, mild) |
148 |
148 |
2 |
| VPS13B |
vacuolar protein sorting 13 homolog B (yeast) |
0 |
0 |
0 |
| VPS45 |
vacuolar protein sorting 45 homolog (S. cerevisiae) |
0 |
0 |
0 |
| WAS |
Wiskott-Aldrich syndrome (eczema-thrombocytopenia) |
135 |
132 |
2 |
| WFS1 |
Wolfram syndrome 1 (wolframin) |
256 |
256 |
2 |
| WIPF1 |
WAS/WASL interacting protein family, member 1 |
0 |
0 |
0 |
| WRAP53 |
WD repeat containing, antisense to TP53 |
0 |
0 |
0 |
| XIAP |
BIRC4 X-linked inhibitor of apoptosis |
20 |
20 |
2 |
| XK |
X-linked Kx blood group (McLeod syndrome) |
0 |
0 |
0 |
| ZAP70 |
zeta-chain (TCR) associated protein kinase 70kDa |
0 |
0 |
0 |
| ZBTB24 |
zinc finger and BTB domain containing 24 |
0 |
0 |
0 |
| |
Total of 291 gene entries |
4563 |
4288 |
27 |
