ONTOLOGY REPORT - ANNOTATIONS
| Term: | Hemic and Lymphatic Diseases |
|
| Accession: | RDO:0005741
|
browse the term
|
| Definition: | Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. |
| Synonyms: | primary_id: | MESH:D006425 |
|
|
5q- syndrome
|
| G |
Rps14 |
ribosomal protein S14 |
|
|
ISS |
18 |
56,727,647 |
56,732,431 |
RGD:7240710 |
OMIM |
Adenosine Triphosphate, Elevated, Of Erythrocytes
|
| G |
Pklr |
pyruvate kinase, liver and RBC |
|
|
ISS |
2 |
181,214,853 |
181,223,505 |
RGD:7240710 |
OMIM |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
|
| G |
Ak1 |
adenylate kinase 1 |
|
|
ISS |
2 |
19,821,482 |
19,822,544 |
RGD:7240710 |
OMIM |
Afibrinogenemia
|
| G |
Fgb |
fibrinogen beta chain |
|
|
ISS |
2 |
174,768,193 |
174,775,102 |
RGD:737709 |
RGD |
| G |
Fgg |
fibrinogen gamma chain |
|
|
ISS |
2 |
174,727,312 |
174,734,594 |
RGD:737710 |
RGD |
Afibrinogenemia congenital
|
| G |
Fga |
fibrinogen alpha chain |
|
|
ISS |
2 |
174,737,640 |
174,753,598 |
RGD:5688762 |
RGD |
| G |
Fga |
fibrinogen alpha chain |
|
|
ISS |
2 |
174,737,640 |
174,753,598 |
RGD:7240710 |
OMIM |
| G |
Fgb |
fibrinogen beta chain |
|
|
ISS |
2 |
174,768,193 |
174,775,102 |
RGD:7240710 |
OMIM |
Agammaglobulinemia
|
| G |
Blnk |
B-cell linker |
|
Susceptibility |
ISS |
1 |
246,091,335 |
246,165,075 |
RGD:1600518 |
RGD |
| G |
Blnk |
B-cell linker |
|
|
ISS |
1 |
246,091,335 |
246,165,075 |
RGD:7240710 |
OMIM |
| G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
|
Susceptibility |
ISS |
X |
121,998,935 |
122,030,289 |
RGD:1600526 |
RGD |
| G |
Cd79a |
Cd79a molecule, immunoglobulin-associated alpha |
|
|
ISS |
1 |
80,189,446 |
80,205,354 |
RGD:7240710 |
OMIM |
| G |
Cd79b |
Cd79b molecule, immunoglobulin-associated beta |
|
|
ISS |
10 |
95,703,129 |
95,706,275 |
RGD:7240710 |
OMIM |
| G |
Cxcr4 |
chemokine (C-X-C motif) receptor 4 |
|
|
ISS |
13 |
41,308,286 |
41,312,190 |
RGD:734860 |
RGD |
| G |
Igll1 |
immunoglobulin lambda-like polypeptide 1 |
|
|
ISS |
11 |
86,159,013 |
86,162,005 |
RGD:7240710 |
OMIM |
| G |
Lrrc8a |
leucine rich repeat containing 8 family, member A |
|
|
ISS |
3 |
9,280,625 |
9,306,317 |
RGD:1599837 |
RGD |
| G |
Lrrc8a |
leucine rich repeat containing 8 family, member A |
|
|
ISS |
3 |
9,280,625 |
9,306,317 |
RGD:7240710 |
OMIM |
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
|
| G |
Blnk |
B-cell linker |
|
|
ISS |
1 |
246,091,335 |
246,165,075 |
RGD:7240710 |
OMIM |
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
|
| G |
Cd79b |
Cd79b molecule, immunoglobulin-associated beta |
|
|
ISS |
10 |
95,703,129 |
95,706,275 |
RGD:7240710 |
OMIM |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:7240710 |
OMIM |
alpha-Thalassemia
|
| G |
Atrx |
alpha thalassemia/mental retardation syndrome X-linked |
|
|
ISS |
X |
93,903,794 |
94,051,337 |
RGD:704404 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:1600818 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:1599361 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:7240710 |
OMIM |
| G |
Hba2 |
hemoglobin, alpha 2 |
|
|
ISS |
10 |
15,570,930 |
15,571,773 |
RGD:7240710 |
OMIM |
Alpha-Thalassemia Myelodysplasia Syndrome
|
| G |
Atrx |
alpha thalassemia/mental retardation syndrome X-linked |
|
|
ISS |
X |
93,903,794 |
94,051,337 |
RGD:7240710 |
OMIM |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
|
| G |
Rag1 |
recombination activating gene 1 |
|
|
ISS |
3 |
86,780,782 |
86,791,878 |
RGD:7240710 |
OMIM |
Anemia
|
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685688 |
RGD |
| G |
Bmp6 |
bone morphogenetic protein 6 |
|
|
IEP |
17 |
32,380,199 |
32,689,295 |
RGD:7242407 |
RGD |
| G |
Epo |
erythropoietin |
|
|
ISS |
12 |
19,551,768 |
19,555,208 |
RGD:2313896 |
RGD |
| G |
Epo |
erythropoietin |
|
|
ISS |
12 |
19,551,768 |
19,555,208 |
RGD:2313843 |
RGD |
| G |
Gata2 |
GATA binding protein 2 |
|
|
ISS |
4 |
122,279,753 |
122,288,528 |
RGD:704404 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:1600808 |
RGD |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:737719 |
RGD |
| G |
Kit |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog |
|
|
IAGP |
14 |
34,906,043 |
34,984,819 |
RGD:5133424 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
ISS |
7 |
139,094,505 |
139,127,427 |
RGD:5688718 |
RGD |
| G |
Sod2 |
superoxide dismutase 2, mitochondrial |
|
|
ISS |
1 |
41,862,997 |
41,870,327 |
RGD:1581262 |
RGD |
| G |
Tf |
transferrin |
|
Treatment |
ISS |
8 |
108,217,774 |
108,244,487 |
RGD:7244154 |
RGD |
| G |
Tf |
transferrin |
|
|
IEP |
8 |
108,217,774 |
108,244,487 |
RGD:7244377 |
RGD |
| G |
Thoc5 |
THO complex 5 |
|
|
ISS |
14 |
85,561,381 |
85,612,915 |
RGD:2317224 |
RGD |
| G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
|
ISS |
2 |
212,277,654 |
212,297,376 |
RGD:7241202 |
RGD |
| S |
F344-ApcPircUwm |
|
|
|
IED |
|
|
|
RGD:1601201 |
RGD |
| S |
PCK/CrljCrl-Pkhd1pck/Crl |
|
|
|
TAS |
|
|
|
RGD:1580540 |
RGD |
Anemia, Aplastic
|
| G |
Faslg |
Fas ligand (TNF superfamily, member 6) |
|
|
ISS |
13 |
77,472,950 |
77,480,210 |
RGD:1582425 |
RGD |
| G |
Gstt1 |
glutathione S-transferase theta 1 |
|
|
ISS |
20 |
13,604,355 |
13,621,456 |
RGD:704404 |
RGD |
| G |
Ifng |
interferon gamma |
|
|
ISS |
7 |
57,621,756 |
57,625,792 |
RGD:7240710 |
OMIM |
Anemia, Diamond-Blackfan
|
| G |
Rpl11 |
ribosomal protein L11 |
|
|
ISS |
5 |
154,826,973 |
154,830,183 |
RGD:7240710 |
OMIM |
| G |
Rpl35a |
ribosomal protein L35a |
|
|
ISS |
1 |
6,574,161 |
6,574,576 |
RGD:7240710 |
OMIM |
| G |
Rpl5l1 |
ribosomal protein L5-like 1 |
|
|
ISS |
9 |
113,233,164 |
113,234,057 |
RGD:7240710 |
OMIM |
| G |
Rps10 |
ribosomal protein S10 |
|
|
ISS |
20 |
5,849,327 |
5,853,893 |
RGD:7240710 |
OMIM |
| G |
Rps17 |
ribosomal protein S17 |
|
|
ISS |
1 |
137,552,232 |
137,554,817 |
RGD:7240710 |
OMIM |
| G |
Rps19 |
ribosomal protein S19 |
|
|
ISS |
1 |
80,176,649 |
80,182,351 |
RGD:1599572 |
RGD |
| G |
Rps19 |
ribosomal protein S19 |
|
|
ISS |
1 |
80,176,649 |
80,182,351 |
RGD:1599571 |
RGD |
| G |
Rps19 |
ribosomal protein S19 |
|
|
ISS |
1 |
80,176,649 |
80,182,351 |
RGD:7240710 |
OMIM |
| G |
Rps26 |
ribosomal protein S26 |
|
|
ISS |
7 |
1,919,153 |
1,920,703 |
RGD:7240710 |
OMIM |
| G |
Rps7 |
ribosomal protein S7 |
|
|
ISS |
6 |
46,511,961 |
46,516,825 |
RGD:7240710 |
OMIM |
Anemia, Diamond-Blackfan, 3
|
| G |
Rps24 |
ribosomal protein S24 |
|
|
ISS |
16 |
43,766 |
48,353 |
RGD:7240710 |
OMIM |
Anemia, Dyserythropoietic, Congenital
|
| G |
Cdan1 |
codanin 1 |
|
Susceptibility |
ISS |
3 |
107,495,860 |
107,508,249 |
RGD:1600473 |
RGD |
| G |
Cdan1 |
codanin 1 |
|
|
ISS |
3 |
107,495,860 |
107,508,249 |
RGD:7240710 |
OMIM |
| G |
Gata1 |
GATA binding protein 1 |
|
|
ISS |
X |
26,564,259 |
26,572,081 |
RGD:704404 |
RGD |
| G |
Klf1 |
Kruppel-like factor 1 (erythroid) |
|
|
ISS |
19 |
24,906,887 |
24,910,058 |
RGD:7240710 |
OMIM |
Anemia, Hemolytic
|
| G |
A2m |
alpha-2-macroglobulin |
|
|
IED |
4 |
158,103,711 |
158,153,423 |
RGD:704364 |
RGD |
| G |
A4galt |
alpha 1,4-galactosyltransferase |
|
|
ISS |
7 |
121,252,117 |
121,255,671 |
RGD:1300231 |
RGD |
| G |
Ada |
adenosine deaminase |
|
|
ISS |
3 |
154,636,530 |
154,660,637 |
RGD:704409 |
RGD |
| G |
Ak1 |
adenylate kinase 1 |
|
|
ISS |
2 |
19,821,482 |
19,822,544 |
RGD:1300279 |
RGD |
| G |
Alas2 |
aminolevulinate, delta-, synthase 2 |
|
|
IEP |
|
|
|
RGD:1599038 |
RGD |
| G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
|
ISS |
X |
160,186,450 |
160,192,316 |
RGD:704404 |
RGD |
| G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
|
ISS |
8 |
82,724,429 |
82,762,848 |
RGD:1302514 |
RGD |
| G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
|
ISS |
8 |
82,724,429 |
82,762,848 |
RGD:7240710 |
OMIM |
| G |
Gpx1 |
glutathione peroxidase 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Gss |
glutathione synthetase |
|
|
ISS |
3 |
146,057,517 |
146,087,820 |
RGD:1302516 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:1600802 |
RGD |
| G |
Nt5c3a |
5'-nucleotidase, cytosolic IIIA |
|
|
ISS |
4 |
85,870,878 |
85,913,812 |
RGD:704404 |
RGD |
| G |
Pgk1 |
phosphoglycerate kinase 1 |
|
|
ISS |
X |
94,324,219 |
94,340,193 |
RGD:1599123 |
RGD |
| G |
Rhag |
Rh-associated glycoprotein |
|
|
ISS |
9 |
15,940,864 |
15,968,319 |
RGD:1599622 |
RGD |
| G |
Slc4a1 |
solute carrier family 4 (anion exchanger), member 1 |
|
|
ISS |
10 |
91,454,824 |
91,471,072 |
RGD:7240710 |
OMIM |
| G |
Sptb |
spectrin, beta, erythrocytic |
|
|
ISS |
6 |
99,194,202 |
99,315,691 |
RGD:7240710 |
OMIM |
Anemia, Hemolytic, Congenital
|
| G |
Bpgm |
2,3-bisphosphoglycerate mutase |
|
Susceptibility |
ISS |
4 |
61,858,884 |
61,888,007 |
RGD:1600522 |
RGD |
| G |
Gpi |
glucose-6-phosphate isomerase |
|
|
ISS |
1 |
86,658,836 |
86,686,712 |
RGD:1600631 |
RGD |
| G |
Gpi |
glucose-6-phosphate isomerase |
|
|
ISS |
1 |
86,658,836 |
86,686,712 |
RGD:1600632 |
RGD |
| G |
Gsr |
glutathione reductase |
|
|
ISS |
16 |
62,255,562 |
62,298,458 |
RGD:1600697 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600886 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600889 |
RGD |
Anemia, Hemolytic, Congenital Nonspherocytic
|
| G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
|
ISS |
X |
160,186,450 |
160,192,316 |
RGD:1599812 |
RGD |
| G |
Gpi |
glucose-6-phosphate isomerase |
|
|
ISS |
1 |
86,658,836 |
86,686,712 |
RGD:1600633 |
RGD |
| G |
Hk1 |
hexokinase 1 |
|
|
ISS |
|
|
|
RGD:1601519 |
RGD |
| G |
Tpi1 |
triosephosphate isomerase 1 |
|
|
ISS |
4 |
160,933,341 |
160,936,871 |
RGD:7240710 |
OMIM |
Anemia, Hypochromic
|
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
IAGP |
7 |
139,094,505 |
139,127,427 |
RGD:729808 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
IAGP |
7 |
139,094,505 |
139,127,427 |
RGD:1580428 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
ISS |
7 |
139,094,505 |
139,127,427 |
RGD:1580430 |
RGD |
| S |
BG |
anemic Belgrade |
|
|
TAS |
|
|
|
RGD:729808 |
RGD |
Anemia, Iron-Deficiency
|
| G |
Crp |
C-reactive protein, pentraxin-related |
|
|
IEP |
13 |
88,702,243 |
88,703,153 |
RGD:5131463 |
RGD |
| G |
Cst3 |
cystatin C |
|
|
IEP |
3 |
137,650,903 |
137,654,776 |
RGD:2301196 |
RGD |
| G |
Hamp |
hepcidin antimicrobial peptide |
|
|
ISS |
1 |
85,978,120 |
85,980,059 |
RGD:704404 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
IEP |
7 |
139,094,505 |
139,127,427 |
RGD:2311409 |
RGD |
| G |
Tf |
transferrin |
|
Susceptibility |
ISS |
8 |
108,217,774 |
108,244,487 |
RGD:1601513 |
RGD |
| G |
Tf |
transferrin |
|
|
ISS |
8 |
108,217,774 |
108,244,487 |
RGD:7240710 |
OMIM |
Anemia, Megaloblastic
|
| G |
Amn |
amnion associated transmembrane protein |
|
Susceptibility |
ISS |
6 |
136,031,478 |
136,038,919 |
RGD:1599101 |
RGD |
| G |
Amn |
amnion associated transmembrane protein |
|
|
ISS |
6 |
136,031,478 |
136,038,919 |
RGD:7240710 |
OMIM |
| G |
Cubn |
cubilin (intrinsic factor-cobalamin receptor) |
|
|
ISS |
17 |
87,545,893 |
87,772,079 |
RGD:61796 |
RGD |
| G |
Cubn |
cubilin (intrinsic factor-cobalamin receptor) |
|
|
ISS |
17 |
87,545,893 |
87,772,079 |
RGD:7240710 |
OMIM |
| G |
Dhfr |
dihydrofolate reductase |
|
|
ISS |
2 |
22,607,093 |
22,828,487 |
RGD:7240710 |
OMIM |
| G |
Slc19a2 |
solute carrier family 19 (thiamine transporter), member 2 |
|
|
ISS |
13 |
80,017,780 |
80,031,777 |
RGD:1599325 |
RGD |
| G |
Tcn2 |
transcobalamin 2 |
|
|
ISS |
14 |
84,579,191 |
84,593,641 |
RGD:1580450 |
RGD |
Anemia, Neonatal
|
| G |
Sptb |
spectrin, beta, erythrocytic |
|
|
ISS |
6 |
99,194,202 |
99,315,691 |
RGD:7240710 |
OMIM |
Anemia, Pernicious
|
| G |
Gif |
gastric intrinsic factor |
|
|
ISS |
1 |
214,519,329 |
214,533,578 |
RGD:704404 |
RGD |
Anemia, Refractory
|
| G |
Ybx1 |
Y box binding protein 1 |
|
|
ISS |
5 |
139,859,176 |
139,875,840 |
RGD:1580637 |
RGD |
Anemia, Sickle Cell
|
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:6893506 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600892 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
| G |
Nppb |
natriuretic peptide B |
|
Severity |
ISS |
5 |
165,062,348 |
165,063,650 |
RGD:5685653 |
RGD |
| G |
Pgf |
placental growth factor |
|
|
ISS |
6 |
109,215,540 |
109,226,122 |
RGD:6483588 |
RGD |
| G |
Selp |
selectin P |
|
|
ISS |
13 |
79,886,614 |
79,922,180 |
RGD:6219007 |
RGD |
Anemia, Sideroblastic
|
| G |
Abcb7 |
ATP-binding cassette, subfamily B (MDR/TAP), member 7 |
|
Susceptibility |
ISS |
X |
92,280,115 |
92,430,426 |
RGD:1598600 |
RGD |
| G |
Abcb7 |
ATP-binding cassette, subfamily B (MDR/TAP), member 7 |
|
|
ISS |
X |
92,280,115 |
92,430,426 |
RGD:1304523 |
RGD |
| G |
Alas2 |
aminolevulinate, delta-, synthase 2 |
|
Susceptibility |
ISS |
|
|
|
RGD:1599037 |
RGD |
Anemia, sideroblastic spinocerebellar ataxia
|
| G |
Abcb7 |
ATP-binding cassette, subfamily B (MDR/TAP), member 7 |
|
|
ISS |
X |
92,280,115 |
92,430,426 |
RGD:7240710 |
OMIM |
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
|
| G |
Glrx5 |
glutaredoxin 5 |
|
|
ISS |
6 |
129,233,209 |
129,243,293 |
RGD:7240710 |
OMIM |
| G |
Slc25a38 |
solute carrier family 25, member 38 |
|
|
ISS |
8 |
125,084,481 |
125,097,326 |
RGD:7240710 |
OMIM |
Anti-plasmin deficiency, congenital
|
| G |
Serpinf2 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 |
|
|
ISS |
10 |
62,748,116 |
62,756,200 |
RGD:7240710 |
OMIM |
Antithrombin III Deficiency
|
| G |
Serpinc1 |
serpin peptidase inhibitor, clade C (antithrombin), member 1 |
|
Susceptibility |
ISS |
13 |
76,548,456 |
76,562,724 |
RGD:1599321 |
RGD |
| G |
Serpinc1 |
serpin peptidase inhibitor, clade C (antithrombin), member 1 |
|
|
ISS |
13 |
76,548,456 |
76,562,724 |
RGD:7240710 |
OMIM |
ATR-X syndrome
|
| G |
Atrx |
alpha thalassemia/mental retardation syndrome X-linked |
|
|
ISS |
X |
93,903,794 |
94,051,337 |
RGD:7240710 |
OMIM |
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
|
| G |
Creld1 |
cysteine-rich with EGF-like domains 1 |
|
|
ISS |
4 |
149,375,373 |
149,384,983 |
RGD:7240710 |
OMIM |
Atypical hemolytic uremic syndrome
|
| G |
C3 |
complement component 3 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Cd46 |
CD46 molecule, complement regulatory protein |
|
|
ISS |
13 |
110,972,812 |
111,003,407 |
RGD:7240710 |
OMIM |
| G |
Cfb |
complement factor B |
|
|
ISS |
20 |
4,072,124 |
4,077,802 |
RGD:7240710 |
OMIM |
| G |
Cfb |
complement factor B |
|
|
ISS |
20 |
4,072,124 |
4,077,802 |
RGD:7242707 |
RGD |
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:7240710 |
OMIM |
| G |
Cfhr1 |
complement factor H-related 1 |
|
|
ISS |
13 |
53,135,397 |
53,150,381 |
RGD:7240710 |
OMIM |
| G |
Cfi |
complement factor I |
|
|
ISS |
2 |
227,281,621 |
227,325,109 |
RGD:6906889 |
RGD |
| G |
Cfi |
complement factor I |
|
|
ISS |
2 |
227,281,621 |
227,325,109 |
RGD:7240710 |
OMIM |
| G |
Thbd |
thrombomodulin |
|
|
ISS |
3 |
137,158,955 |
137,162,607 |
RGD:7240710 |
OMIM |
Autoimmune Lymphoproliferative Syndrome
|
| G |
Casp8 |
caspase 8 |
|
|
ISS |
9 |
57,389,353 |
57,437,803 |
RGD:7240710 |
OMIM |
| G |
Fas |
Fas cell surface death receptor |
|
|
ISS |
1 |
238,259,443 |
238,274,745 |
RGD:7240710 |
OMIM |
Bernard-Soulier Syndrome
|
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:734720 |
RGD |
| G |
Gp1ba |
glycoprotein Ib (platelet), alpha polypeptide |
|
|
ISS |
10 |
57,519,338 |
57,522,204 |
RGD:1580444 |
RGD |
| G |
Gp1ba |
glycoprotein Ib (platelet), alpha polypeptide |
|
|
ISS |
10 |
57,519,338 |
57,522,204 |
RGD:7240710 |
OMIM |
| G |
Gp1bb |
glycoprotein Ib (platelet), beta polypeptide |
|
|
ISS |
11 |
84,369,795 |
84,370,972 |
RGD:7240710 |
OMIM |
| G |
Gp9 |
glycoprotein IX (platelet) |
|
|
ISS |
4 |
121,965,797 |
121,967,132 |
RGD:1599275 |
RGD |
| G |
Gp9 |
glycoprotein IX (platelet) |
|
|
ISS |
4 |
121,965,797 |
121,967,132 |
RGD:7240710 |
OMIM |
| G |
Vwf |
von Willebrand factor |
|
|
ISS |
4 |
161,723,415 |
161,854,766 |
RGD:1580643 |
RGD |
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
|
| G |
Gp1ba |
glycoprotein Ib (platelet), alpha polypeptide |
|
|
ISS |
10 |
57,519,338 |
57,522,204 |
RGD:7240710 |
OMIM |
beta-Thalassemia
|
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:704404 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600893 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600895 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
| G |
Hbg1 |
hemoglobin, gamma A |
|
Severity |
ISS |
1 |
161,640,359 |
161,641,737 |
RGD:1600575 |
RGD |
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
|
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
Blast Crisis
|
| G |
Esr2 |
estrogen receptor 2 (ER beta) |
|
|
ISS |
6 |
98,691,167 |
98,775,299 |
RGD:734951 |
RGD |
BLEEDING DISORDER, PLATELET-TYPE, 8
|
| G |
P2ry12 |
purinergic receptor P2Y, G-protein coupled, 12 |
|
|
ISS |
2 |
148,611,035 |
148,613,985 |
RGD:7240710 |
OMIM |
Blood Coagulation Disorders
|
| G |
Fga |
fibrinogen alpha chain |
|
|
ISS |
2 |
174,737,640 |
174,753,598 |
RGD:7240710 |
OMIM |
| G |
Ggcx |
gamma-glutamyl carboxylase |
|
|
ISS |
4 |
105,719,323 |
105,735,037 |
RGD:704404 |
RGD |
| G |
Lman1 |
lectin, mannose-binding, 1 |
|
|
ISS |
18 |
62,504,296 |
62,524,151 |
RGD:1549455 |
RGD |
| G |
Serpina10 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 |
|
|
ISS |
6 |
127,887,684 |
127,896,122 |
RGD:1580102 |
RGD |
Blood Coagulation Disorders, Inherited
|
| G |
Ggcx |
gamma-glutamyl carboxylase |
|
|
ISS |
4 |
105,719,323 |
105,735,037 |
RGD:1598791 |
RGD |
| G |
Kng1 |
kininogen 1 |
|
|
ISS |
11 |
80,109,499 |
80,131,887 |
RGD:1600407 |
RGD |
| G |
P2rx1 |
purinergic receptor P2X, ligand-gated ion channel, 1 |
|
|
ISS |
10 |
59,889,933 |
59,904,985 |
RGD:7240710 |
OMIM |
Blood Platelet Disorders
|
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:1600629 |
RGD |
| G |
Itga2 |
integrin, alpha 2 |
|
|
ISS |
2 |
46,967,681 |
47,080,909 |
RGD:7240710 |
OMIM |
| G |
Pla2g4a |
phospholipase A2, group IVA (cytosolic, calcium-dependent) |
|
|
ISS |
13 |
64,135,729 |
64,280,815 |
RGD:7240710 |
OMIM |
| S |
SHR.F344-(D12Mgh5-D12Mgh6)/Snk |
|
|
|
IED |
12 |
29,130,180 |
42,387,195 |
RGD:1599588 |
RGD |
Blood Protein Disorders
|
| G |
A2m |
alpha-2-macroglobulin |
|
|
ISS |
4 |
158,103,711 |
158,153,423 |
RGD:7240710 |
OMIM |
| G |
Serpina7 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 |
|
|
ISS |
X |
126,739,203 |
126,744,763 |
RGD:7240710 |
OMIM |
Bruton type agammaglobulinemia
|
| G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
|
|
ISS |
X |
121,998,935 |
122,030,289 |
RGD:7240710 |
OMIM |
Burkitt Lymphoma
|
| G |
Myc |
myelocytomatosis oncogene |
|
|
ISS |
7 |
98,953,142 |
98,958,060 |
RGD:1601453 |
RGD |
| G |
Myc |
myelocytomatosis oncogene |
|
|
ISS |
7 |
98,953,142 |
98,958,060 |
RGD:7240710 |
OMIM |
Carrington syndrome
|
| G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
|
ISS |
14 |
17,265,986 |
17,268,183 |
RGD:5135443 |
RGD |
| G |
Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
|
|
ISS |
14 |
17,284,085 |
17,288,996 |
RGD:5135443 |
RGD |
CD59 Deficiency
|
| G |
Cd59 |
CD59 molecule, complement regulatory protein |
|
|
ISS |
3 |
89,243,600 |
89,245,129 |
RGD:7240710 |
OMIM |
Chediak-Higashi Syndrome
|
| G |
Lyst |
lysosomal trafficking regulator |
|
|
IAGP |
17 |
66,569,478 |
66,735,402 |
RGD:633300 |
RGD |
| G |
Lyst |
lysosomal trafficking regulator |
|
|
ISS |
17 |
66,569,478 |
66,735,402 |
RGD:1300377 |
RGD |
| G |
Lyst |
lysosomal trafficking regulator |
|
|
ISS |
17 |
66,569,478 |
66,735,402 |
RGD:7240710 |
OMIM |
CHOANAL ATRESIA AND LYMPHEDEMA
|
| G |
Ptpn14 |
protein tyrosine phosphatase, non-receptor type 14 |
|
|
ISS |
13 |
106,004,935 |
106,150,162 |
RGD:7240710 |
OMIM |
Churg-Strauss Syndrome
|
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:6218983 |
RGD |
| G |
Gfra1 |
GDNF family receptor alpha 1 |
|
|
ISS |
1 |
264,614,329 |
264,875,486 |
RGD:6218983 |
RGD |
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:6892720 |
RGD |
| G |
Vtn |
vitronectin |
|
|
ISS |
10 |
64,609,242 |
64,612,322 |
RGD:1580817 |
RGD |
Coagulation Protein Disorders
|
| G |
Ggcx |
gamma-glutamyl carboxylase |
|
|
ISS |
4 |
105,719,323 |
105,735,037 |
RGD:1598791 |
RGD |
Combined Cellular And Humoral Immune Defects With Granulomas
|
| G |
Rag1 |
recombination activating gene 1 |
|
|
ISS |
3 |
86,780,782 |
86,791,878 |
RGD:7240710 |
OMIM |
| G |
Rag2 |
recombination activating gene 2 |
|
|
ISS |
3 |
86,764,810 |
86,773,438 |
RGD:7240710 |
OMIM |
Congenital amegakaryocytic thrombocytopenia
|
| G |
Mpl |
myeloproliferative leukemia virus oncogene |
|
|
ISS |
5 |
138,921,281 |
138,931,990 |
RGD:7240710 |
OMIM |
Congenital thrombotic disease, due to Protein C deficiency
|
| G |
Pc |
pyruvate carboxylase |
|
|
ISS |
1 |
207,112,853 |
207,212,737 |
RGD:7240710 |
OMIM |
| G |
Proc |
protein C |
|
|
ISS |
18 |
24,563,368 |
24,573,715 |
RGD:7240710 |
OMIM |
Cyclic neutropenia
|
| G |
Elane |
elastase, neutrophil expressed |
|
|
ISS |
7 |
11,329,642 |
11,331,490 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 10
|
| G |
Rps26 |
ribosomal protein S26 |
|
|
ISS |
7 |
1,919,153 |
1,920,703 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 4
|
| G |
Rps17 |
ribosomal protein S17 |
|
|
ISS |
1 |
137,552,232 |
137,554,817 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 5
|
| G |
Rpl35a |
ribosomal protein L35a |
|
|
ISS |
1 |
6,574,161 |
6,574,576 |
RGD:7240710 |
OMIM |
DIAMOND-BLACKFAN ANEMIA 6
|
| G |
Rpl5l1 |
ribosomal protein L5-like 1 |
|
|
ISS |
9 |
113,233,164 |
113,234,057 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 7
|
| G |
Rpl11 |
ribosomal protein L11 |
|
|
ISS |
5 |
154,826,973 |
154,830,183 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 8
|
| G |
Rps7 |
ribosomal protein S7 |
|
|
ISS |
6 |
46,511,961 |
46,516,825 |
RGD:7240710 |
OMIM |
Diamond-Blackfan Anemia 9
|
| G |
Rps10 |
ribosomal protein S10 |
|
|
ISS |
20 |
5,849,327 |
5,853,893 |
RGD:7240710 |
OMIM |
DiGeorge Syndrome
|
| G |
Aldh1a2 |
aldehyde dehydrogenase 1 family, member A2 |
|
|
ISS |
8 |
75,692,099 |
75,771,159 |
RGD:734550 |
RGD |
| G |
Arvcf |
armadillo repeat gene deleted in velo-cardio-facial syndrome |
|
|
ISS |
11 |
84,582,208 |
84,639,874 |
RGD:1578806 |
RGD |
| G |
Comt |
catechol-O-methyltransferase |
|
|
ISS |
11 |
84,561,591 |
84,581,713 |
RGD:7240710 |
OMIM |
| G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
|
ISS |
5 |
172,705,951 |
172,717,626 |
RGD:1580898 |
RGD |
| G |
Tbx1 |
T-box 1 |
|
|
ISS |
11 |
84,400,980 |
84,410,631 |
RGD:7240710 |
OMIM |
| G |
Tssk2 |
testis-specific serine kinase 2 |
|
|
ISS |
11 |
85,074,711 |
85,076,066 |
RGD:1580778 |
RGD |
| G |
Ufd1l |
ubiquitin fusion degradation 1 like (yeast) |
|
|
ISS |
|
|
|
RGD:1580803 |
RGD |
| G |
Usp18 |
ubiquitin specific peptidase 18 |
|
|
ISS |
4 |
157,692,720 |
157,694,884 |
RGD:1549873 |
RGD |
Disseminated Intravascular Coagulation
|
| G |
F13a1 |
coagulation factor XIII, A1 polypeptide |
|
|
ISS |
17 |
34,093,525 |
34,270,498 |
RGD:1581020 |
RGD |
| G |
F2 |
coagulation factor II |
|
|
IED |
3 |
76,005,318 |
76,018,603 |
RGD:6893489 |
RGD |
| G |
Serpind1 |
serpin peptidase inhibitor, clade D (heparin cofactor), member 1 |
|
|
ISS |
11 |
85,666,714 |
85,677,716 |
RGD:1580300 |
RGD |
| G |
Thbd |
thrombomodulin |
|
|
ISS |
3 |
137,158,955 |
137,162,607 |
RGD:5685034 |
RGD |
Dysgammaglobulinemia
|
| G |
aicda |
activation-induced cytidine deaminase |
|
Susceptibility |
ISS |
4 |
159,006,328 |
159,017,501 |
RGD:1598906 |
RGD |
| G |
Cd40lg |
CD40 ligand |
|
|
ISS |
X |
141,925,019 |
141,937,183 |
RGD:1599480 |
RGD |
| G |
Ung |
uracil-DNA glycosylase |
|
|
ISS |
12 |
43,520,629 |
43,528,873 |
RGD:1599705 |
RGD |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
|
| G |
Aptx |
aprataxin |
|
|
ISS |
5 |
58,060,210 |
58,081,165 |
RGD:7240710 |
OMIM |
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
|
| G |
Ikbkg |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
|
|
ISS |
X |
160,386,558 |
160,420,190 |
RGD:7240710 |
OMIM |
Ehlers-Danlos Syndrome
|
| G |
B4galt7 |
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 |
|
Susceptibility |
ISS |
17 |
15,059,958 |
15,068,556 |
RGD:1599433 |
RGD |
| G |
Col1a2 |
collagen, type I, alpha 2 |
|
|
ISS |
4 |
29,393,645 |
29,428,572 |
RGD:704404 |
RGD |
| G |
Col1a2 |
collagen, type I, alpha 2 |
|
|
ISS |
4 |
29,393,645 |
29,428,572 |
RGD:1581198 |
RGD |
| G |
Col3a1 |
collagen, type III, alpha 1 |
|
|
ISS |
9 |
44,281,582 |
44,317,831 |
RGD:704404 |
RGD |
| G |
Col3a1 |
collagen, type III, alpha 1 |
|
|
ISS |
9 |
44,281,582 |
44,317,831 |
RGD:1300381 |
RGD |
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:1581211 |
RGD |
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:734808 |
RGD |
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:1581210 |
RGD |
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:1581212 |
RGD |
| G |
Col5a2 |
collagen, type V, alpha 2 |
|
|
ISS |
9 |
44,374,113 |
44,525,086 |
RGD:734809 |
RGD |
| G |
Lox |
lysyl oxidase |
|
|
ISS |
18 |
47,896,674 |
47,970,829 |
RGD:1581895 |
RGD |
| G |
Tnxb |
tenascin XB |
|
|
ISS |
20 |
4,133,875 |
4,178,049 |
RGD:1599494 |
RGD |
Ehlers-Danlos syndrome caused by tenascin-X deficiency
|
| G |
Tnxb |
tenascin XB |
|
|
ISS |
20 |
4,133,875 |
4,178,049 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome type 1
|
| G |
Col1a1 |
collagen, type I, alpha 1 |
|
|
ISS |
10 |
83,622,438 |
83,639,368 |
RGD:7240710 |
OMIM |
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:7240710 |
OMIM |
| G |
Col5a2 |
collagen, type V, alpha 2 |
|
|
ISS |
9 |
44,374,113 |
44,525,086 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome type 2
|
| G |
Col5a1 |
collagen, type V, alpha 1 |
|
|
ISS |
3 |
6,826,169 |
6,971,054 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome type 3
|
| G |
Tnxb |
tenascin XB |
|
|
ISS |
20 |
4,133,875 |
4,178,049 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome type 6
|
| G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
|
|
ISS |
5 |
164,987,252 |
165,012,581 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome, cardiac valvular form
|
| G |
Col1a2 |
collagen, type I, alpha 2 |
|
|
ISS |
4 |
29,393,645 |
29,428,572 |
RGD:7240710 |
OMIM |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
|
| G |
Chst14 |
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 |
|
|
ISS |
3 |
105,439,600 |
105,441,657 |
RGD:7240710 |
OMIM |
Ehlers-Danlos syndrome, progeroid form
|
| G |
B4galt7 |
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 |
|
|
ISS |
17 |
15,059,958 |
15,068,556 |
RGD:7240710 |
OMIM |
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
|
| G |
Col1a1 |
collagen, type I, alpha 1 |
|
|
ISS |
10 |
83,622,438 |
83,639,368 |
RGD:734803 |
RGD |
| G |
Col1a1 |
collagen, type I, alpha 1 |
|
|
ISS |
10 |
83,622,438 |
83,639,368 |
RGD:7240710 |
OMIM |
| G |
Col1a2 |
collagen, type I, alpha 2 |
|
|
ISS |
4 |
29,393,645 |
29,428,572 |
RGD:7240710 |
OMIM |
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
|
| G |
Adamts2 |
ADAM metallopeptidase with thrombospondin type 1 motif, 2 |
|
|
ISS |
10 |
36,168,655 |
36,377,640 |
RGD:7240710 |
OMIM |
Elliptocytosis 1
|
| G |
Epb4.1 |
erythrocyte membrane protein band 4.1 |
|
|
ISS |
5 |
150,782,245 |
150,908,888 |
RGD:7240710 |
OMIM |
Elliptocytosis 2
|
| G |
Spta1 |
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) |
|
|
ISS |
13 |
89,951,924 |
90,028,592 |
RGD:7240710 |
OMIM |
Elliptocytosis, Hereditary
|
| G |
Epb4.1 |
erythrocyte membrane protein band 4.1 |
|
|
ISS |
5 |
150,782,245 |
150,908,888 |
RGD:1598914 |
RGD |
| G |
Epb4.1 |
erythrocyte membrane protein band 4.1 |
|
|
ISS |
5 |
150,782,245 |
150,908,888 |
RGD:7240710 |
OMIM |
| G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
|
ISS |
10 |
14,106,047 |
14,117,459 |
RGD:7240710 |
OMIM |
| G |
Slc4a1 |
solute carrier family 4 (anion exchanger), member 1 |
|
|
ISS |
10 |
91,454,824 |
91,471,072 |
RGD:7240710 |
OMIM |
| G |
Spta1 |
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) |
|
|
ISS |
13 |
89,951,924 |
90,028,592 |
RGD:1599111 |
RGD |
| G |
Sptb |
spectrin, beta, erythrocytic |
|
|
ISS |
6 |
99,194,202 |
99,315,691 |
RGD:1599118 |
RGD |
| G |
Sptb |
spectrin, beta, erythrocytic |
|
|
ISS |
6 |
99,194,202 |
99,315,691 |
RGD:7240710 |
OMIM |
Eosinophilia
|
| G |
Bdkrb2 |
bradykinin receptor B2 |
|
|
ISS |
6 |
129,744,781 |
129,748,851 |
RGD:4891039 |
RGD |
| G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
|
ISS |
10 |
70,279,161 |
70,283,762 |
RGD:4891487 |
RGD |
| G |
Ccl24 |
chemokine (C-C motif) ligand 24 |
|
|
ISS |
12 |
22,255,293 |
22,259,290 |
RGD:4891487 |
RGD |
| G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
|
|
ISS |
12 |
22,265,430 |
22,268,793 |
RGD:4891487 |
RGD |
| G |
Ccl26 |
chemokine (C-C motif) ligand 26 |
|
|
ISS |
12 |
22,265,430 |
22,268,793 |
RGD:5130928 |
RGD |
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:4145642 |
RGD |
| G |
Il5 |
interleukin 5 |
|
|
IEP |
10 |
39,177,786 |
39,180,657 |
RGD:625643 |
RGD |
| G |
Pdgfra |
platelet derived growth factor receptor, alpha polypeptide |
|
|
ISS |
14 |
35,369,422 |
35,418,126 |
RGD:1580848 |
RGD |
| Q |
Leukc1 |
Leukocyte quantity QTL 1 |
|
|
IAGP |
19 |
12,235,101 |
57,235,101 |
RGD:5135221 |
RGD |
| Q |
Leukc2 |
Leukocyte quantity QTL 2 |
|
|
IAGP |
2 |
121,545,310 |
155,102,371 |
RGD:5135221 |
RGD |
| Q |
Leukc3 |
Leukocyte quantity QTL 3 |
|
|
IAGP |
1 |
223,729,174 |
229,876,997 |
RGD:5135222 |
RGD |
| S |
BDII |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
BN.MES-Cyba/Sna |
|
|
|
IED |
|
|
|
RGD:5134976 |
RGD |
| S |
MES/Slc |
Matsumoto Eosinophilia Shinshu |
|
|
IED |
|
|
|
RGD:5134988 |
RGD |
Eosinophilic Esophagitis
|
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6771318 |
RGD |
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:6893390 |
RGD |
| G |
Cd40lg |
CD40 ligand |
|
|
ISS |
X |
141,925,019 |
141,937,183 |
RGD:5490306 |
RGD |
| G |
Pecam1 |
platelet/endothelial cell adhesion molecule 1 |
|
|
ISS |
10 |
96,056,220 |
96,057,232 |
RGD:6771318 |
RGD |
Epstein syndrome
|
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:6902926 |
RGD |
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:6903235 |
RGD |
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:7240710 |
OMIM |
Erythrocytosis, Familial, 2
|
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:6483049 |
RGD |
Erythrocytosis, Familial, 3
|
| G |
Egln1 |
EGL nine homolog 1 (C. elegans) |
|
|
ISS |
19 |
55,080,670 |
55,118,226 |
RGD:7240710 |
OMIM |
Erythrocytosis, Familial, 4
|
| G |
Epas1 |
endothelial PAS domain protein 1 |
|
|
ISS |
6 |
10,203,108 |
10,297,215 |
RGD:7240710 |
OMIM |
Ethylmalonic encephalopathy
|
| G |
Ethe1 |
ethylmalonic encephalopathy 1 |
|
|
ISS |
1 |
79,875,629 |
79,890,681 |
RGD:7240710 |
OMIM |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
|
| G |
Cox4i2 |
cytochrome c oxidase subunit IV isoform 2 (lung) |
|
|
ISS |
3 |
143,103,348 |
143,114,236 |
RGD:7240710 |
OMIM |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1
|
| G |
Lman1 |
lectin, mannose-binding, 1 |
|
|
ISS |
18 |
62,504,296 |
62,524,151 |
RGD:7240710 |
OMIM |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
|
| G |
Mcfd2 |
multiple coagulation factor deficiency 2 |
|
|
ISS |
6 |
10,763,516 |
10,774,854 |
RGD:7240710 |
OMIM |
Factor V Deficiency
|
| G |
F5 |
coagulation factor V (proaccelerin, labile factor) |
|
|
ISS |
13 |
79,934,956 |
79,997,285 |
RGD:7240710 |
OMIM |
| G |
Lman1 |
lectin, mannose-binding, 1 |
|
|
ISS |
18 |
62,504,296 |
62,524,151 |
RGD:1600100 |
RGD |
Factor VII Deficiency
|
| G |
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
|
|
ISS |
16 |
81,348,678 |
81,358,991 |
RGD:7240710 |
OMIM |
| G |
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
|
|
ISS |
16 |
81,348,678 |
81,358,991 |
RGD:1601133 |
RGD |
Factor X Deficiency
|
| G |
F10 |
coagulation factor X |
|
|
ISS |
16 |
81,327,237 |
81,346,544 |
RGD:7240710 |
OMIM |
| G |
F10 |
coagulation factor X |
|
|
ISS |
16 |
81,327,237 |
81,346,544 |
RGD:1601104 |
RGD |
Factor XI Deficiency
|
| G |
F11 |
coagulation factor XI |
|
|
ISS |
16 |
50,276,330 |
50,298,903 |
RGD:1598923 |
RGD |
| G |
F11 |
coagulation factor XI |
|
|
ISS |
16 |
50,276,330 |
50,298,903 |
RGD:7240710 |
OMIM |
Factor XII Deficiency
|
| G |
F12 |
coagulation factor XII (Hageman factor) |
|
|
ISS |
17 |
15,251,611 |
15,259,583 |
RGD:7240710 |
OMIM |
| G |
F12 |
coagulation factor XII (Hageman factor) |
|
|
ISS |
17 |
15,251,611 |
15,259,583 |
RGD:1601107 |
RGD |
Factor XIII Deficiency
|
| G |
F13a1 |
coagulation factor XIII, A1 polypeptide |
|
|
ISS |
17 |
34,093,525 |
34,270,498 |
RGD:7240710 |
OMIM |
| G |
F13a1 |
coagulation factor XIII, A1 polypeptide |
|
|
ISS |
17 |
34,093,525 |
34,270,498 |
RGD:734955 |
RGD |
| G |
Lman1 |
lectin, mannose-binding, 1 |
|
|
ISS |
18 |
62,504,296 |
62,524,151 |
RGD:1600100 |
RGD |
Fanconi Anemia
|
| G |
Bach1 |
BTB and CNC homology 1, basic leucine zipper transcription factor 1 |
|
|
ISS |
11 |
27,467,207 |
27,500,173 |
RGD:7240710 |
OMIM |
| G |
Brca2 |
breast cancer 2, early onset |
|
Susceptibility |
ISS |
12 |
4,282,952 |
4,323,693 |
RGD:734658 |
RGD |
| G |
Brca2 |
breast cancer 2, early onset |
|
|
ISS |
12 |
4,282,952 |
4,323,693 |
RGD:7240710 |
OMIM |
| G |
Brip1 |
BRCA1 interacting protein C-terminal helicase 1 |
|
|
ISS |
10 |
74,313,004 |
74,436,532 |
RGD:7240710 |
OMIM |
| G |
Fanca |
Fanconi anemia, complementation group A |
|
|
ISS |
19 |
53,587,849 |
53,647,780 |
RGD:7240710 |
OMIM |
| G |
Fancb |
Fanconi anemia, complementation group B |
|
|
ISS |
X |
50,143,416 |
50,157,928 |
RGD:7240710 |
OMIM |
| G |
Fancc |
Fanconi anemia, complementation group C |
|
|
ISS |
17 |
7,254,528 |
7,341,500 |
RGD:1300359 |
RGD |
| G |
Fancc |
Fanconi anemia, complementation group C |
|
|
ISS |
17 |
7,254,528 |
7,341,500 |
RGD:7240710 |
OMIM |
| G |
Fancd2 |
Fanconi anemia, complementation group D2 |
|
|
ISS |
4 |
149,424,558 |
149,500,006 |
RGD:1601137 |
RGD |
| G |
Fancd2 |
Fanconi anemia, complementation group D2 |
|
|
ISS |
4 |
149,424,558 |
149,500,006 |
RGD:7240710 |
OMIM |
| G |
Fance |
Fanconi anemia, complementation group E |
|
|
ISS |
20 |
6,549,701 |
6,566,916 |
RGD:1598924 |
RGD |
| G |
Fance |
Fanconi anemia, complementation group E |
|
|
ISS |
20 |
6,549,701 |
6,566,916 |
RGD:7240710 |
OMIM |
| G |
Fancf |
Fanconi anemia, complementation group F |
|
|
ISS |
1 |
101,664,895 |
101,666,720 |
RGD:1598925 |
RGD |
| G |
Fancf |
Fanconi anemia, complementation group F |
|
|
ISS |
1 |
101,664,895 |
101,666,720 |
RGD:7240710 |
OMIM |
| G |
Fancg |
Fanconi anemia, complementation group G |
|
|
ISS |
5 |
59,494,640 |
59,501,785 |
RGD:1599879 |
RGD |
| G |
Fancg |
Fanconi anemia, complementation group G |
|
|
ISS |
5 |
59,494,640 |
59,501,785 |
RGD:7240710 |
OMIM |
| G |
Fanci |
Fanconi anemia, complementation group I |
|
|
ISS |
1 |
135,144,029 |
135,196,828 |
RGD:7240710 |
OMIM |
| G |
Fancl |
Fanconi anemia, complementation group L |
|
|
ISS |
14 |
107,211,448 |
107,276,828 |
RGD:7240710 |
OMIM |
| G |
Palb2 |
partner and localizer of BRCA2 |
|
|
ISS |
1 |
180,928,710 |
180,952,518 |
RGD:7240710 |
OMIM |
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:6482802 |
RGD |
| G |
Rad51c |
Rad51 homolog c (S. cerevisiae) |
|
|
ISS |
10 |
75,692,205 |
75,718,369 |
RGD:7240710 |
OMIM |
Fanconi Anemia, Complementation Group B
|
| G |
Fancb |
Fanconi anemia, complementation group B |
|
|
ISS |
X |
50,143,416 |
50,157,928 |
RGD:7240710 |
OMIM |
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
| G |
Fancc |
Fanconi anemia, complementation group C |
|
|
ISS |
17 |
7,254,528 |
7,341,500 |
RGD:7240710 |
OMIM |
Fanconi Anemia, Complementation Group D1
|
| G |
Brca2 |
breast cancer 2, early onset |
|
|
ISS |
12 |
4,282,952 |
4,323,693 |
RGD:7240710 |
OMIM |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
| G |
Fancd2 |
Fanconi anemia, complementation group D2 |
|
|
ISS |
4 |
149,424,558 |
149,500,006 |
RGD:7240710 |
OMIM |
FANCONI ANEMIA, COMPLEMENTATION GROUP E
|
| G |
Fance |
Fanconi anemia, complementation group E |
|
|
ISS |
20 |
6,549,701 |
6,566,916 |
RGD:7240710 |
OMIM |
FANCONI ANEMIA, COMPLEMENTATION GROUP F
|
| G |
Fancf |
Fanconi anemia, complementation group F |
|
|
ISS |
1 |
101,664,895 |
101,666,720 |
RGD:7240710 |
OMIM |
Fanconi Anemia, Complementation Group I
|
| G |
Fanci |
Fanconi anemia, complementation group I |
|
|
ISS |
1 |
135,144,029 |
135,196,828 |
RGD:7240710 |
OMIM |
Fanconi Anemia, Complementation Group J
|
| G |
Bach1 |
BTB and CNC homology 1, basic leucine zipper transcription factor 1 |
|
|
ISS |
11 |
27,467,207 |
27,500,173 |
RGD:7240710 |
OMIM |
| G |
Brip1 |
BRCA1 interacting protein C-terminal helicase 1 |
|
|
ISS |
10 |
74,313,004 |
74,436,532 |
RGD:7240710 |
OMIM |
Fanconi Anemia, Complementation Group N
|
| G |
Palb2 |
partner and localizer of BRCA2 |
|
|
ISS |
1 |
180,928,710 |
180,952,518 |
RGD:7240710 |
OMIM |
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
| G |
Rad51c |
Rad51 homolog c (S. cerevisiae) |
|
|
ISS |
10 |
75,692,205 |
75,718,369 |
RGD:7240710 |
OMIM |
Fechtner syndrome
|
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:6902925 |
RGD |
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:6903235 |
RGD |
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:7240710 |
OMIM |
Flaujeac factor deficiency
|
| G |
Kng1 |
kininogen 1 |
|
|
ISS |
11 |
80,109,499 |
80,131,887 |
RGD:7240710 |
OMIM |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
|
| G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
|
ISS |
8 |
82,724,429 |
82,762,848 |
RGD:7240710 |
OMIM |
Ghosal Hematodiaphyseal Dysplasia
|
| G |
Tbxas1 |
thromboxane A synthase 1, platelet |
|
|
ISS |
4 |
66,502,253 |
66,677,538 |
RGD:7240710 |
OMIM |
Glanzmann Thrombasthenia, Autosomal Dominant
|
| G |
Itga2b |
integrin, alpha 2B |
|
|
ISS |
10 |
91,557,086 |
91,574,194 |
RGD:7240710 |
OMIM |
| G |
Itgb3 |
integrin, beta 3 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Glucosephosphate Dehydrogenase Deficiency
|
| G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
|
ISS |
X |
160,186,450 |
160,192,316 |
RGD:7240710 |
OMIM |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
|
| G |
Gss |
glutathione synthetase |
|
|
ISS |
3 |
146,057,517 |
146,087,820 |
RGD:7240710 |
OMIM |
Glycosylphosphatidylinositol deficiency
|
| G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
|
|
ISS |
13 |
88,377,212 |
88,380,909 |
RGD:7240710 |
OMIM |
Granuloma
|
| G |
Cma1 |
chymase 1, mast cell |
|
|
IEP |
15 |
34,083,202 |
34,084,387 |
RGD:5128499 |
RGD |
| G |
Mif |
macrophage migration inhibitory factor (glycosylation-inhibiting factor) |
|
|
IEP |
20 |
13,191,986 |
13,192,851 |
RGD:1642009 |
RGD |
| G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
|
ISS |
19 |
19,662,337 |
19,697,341 |
RGD:5508736 |
RGD |
Granuloma, Respiratory Tract
|
| G |
Ccl1 |
chemokine (C-C motif) ligand 1 |
|
|
ISS |
10 |
70,380,498 |
70,383,276 |
RGD:4145441 |
RGD |
| G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
|
ISS |
10 |
70,279,161 |
70,283,762 |
RGD:4145441 |
RGD |
| G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
|
IEP |
10 |
70,279,161 |
70,283,762 |
RGD:4145477 |
RGD |
| G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
|
ISS |
19 |
10,641,376 |
10,642,827 |
RGD:4145515 |
RGD |
| G |
Ccl2 |
chemokine (C-C motif) ligand 2 |
|
|
ISS |
10 |
70,256,263 |
70,258,061 |
RGD:4145441 |
RGD |
| G |
Ccl22 |
chemokine (C-C motif) ligand 22 |
|
|
ISS |
19 |
10,697,324 |
10,704,129 |
RGD:4145515 |
RGD |
| G |
Ccl22 |
chemokine (C-C motif) ligand 22 |
|
|
ISS |
19 |
10,697,324 |
10,704,129 |
RGD:4145441 |
RGD |
| G |
Ccl4 |
chemokine (C-C motif) ligand 4 |
|
|
ISS |
10 |
71,759,643 |
71,761,115 |
RGD:5683877 |
RGD |
| G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
|
ISS |
14 |
17,265,986 |
17,268,183 |
RGD:5683877 |
RGD |
| G |
Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
|
|
ISS |
14 |
17,284,085 |
17,288,996 |
RGD:5683877 |
RGD |
| G |
Tlr3 |
toll-like receptor 3 |
|
|
ISS |
16 |
50,112,910 |
50,126,371 |
RGD:5129133 |
RGD |
| G |
Tlr9 |
toll-like receptor 9 |
|
|
ISS |
|
|
|
RGD:5130186 |
RGD |
Granulomatous Disease, Chronic
|
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:734861 |
RGD |
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:1600791 |
RGD |
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:7240710 |
OMIM |
| G |
Cybb |
cytochrome b-245, beta polypeptide |
|
|
ISS |
X |
25,514,572 |
25,547,181 |
RGD:1599664 |
RGD |
| G |
Ifng |
interferon gamma |
|
|
ISS |
7 |
57,621,756 |
57,625,792 |
RGD:6893353 |
RGD |
| G |
Ncf1 |
neutrophil cytosolic factor 1 |
|
|
ISS |
12 |
23,578,097 |
23,587,292 |
RGD:1600562 |
RGD |
| G |
Ncf1 |
neutrophil cytosolic factor 1 |
|
|
ISS |
12 |
23,578,097 |
23,587,292 |
RGD:1624401 |
RGD |
| G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
|
ISS |
13 |
67,806,516 |
67,834,105 |
RGD:1624401 |
RGD |
| G |
Tlr5 |
toll-like receptor 5 |
|
|
ISS |
13 |
99,025,501 |
99,029,755 |
RGD:5130865 |
RGD |
| G |
Tlr9 |
toll-like receptor 9 |
|
|
ISS |
|
|
|
RGD:5130865 |
RGD |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:7240710 |
OMIM |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
|
| G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
|
ISS |
13 |
67,806,516 |
67,834,105 |
RGD:7240710 |
OMIM |
Granulomatous Disease, Chronic, X-Linked
|
| G |
Cybb |
cytochrome b-245, beta polypeptide |
|
|
ISS |
X |
25,514,572 |
25,547,181 |
RGD:7240710 |
OMIM |
Heinz Body Anemias
|
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:7240710 |
OMIM |
| G |
Hba2 |
hemoglobin, alpha 2 |
|
|
ISS |
10 |
15,570,930 |
15,571,773 |
RGD:7240710 |
OMIM |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
Hemangioma, Cavernous, Central Nervous System
|
| G |
Ccm2 |
cerebral cavernous malformation 2 |
|
|
ISS |
14 |
87,307,223 |
87,353,553 |
RGD:7240710 |
OMIM |
| G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
|
ISS |
4 |
27,014,488 |
27,048,636 |
RGD:1358458 |
RGD |
| G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
Susceptibility |
ISS |
4 |
27,014,488 |
27,048,636 |
RGD:1598379 |
RGD |
| G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
|
ISS |
4 |
27,014,488 |
27,048,636 |
RGD:7240710 |
OMIM |
| G |
Pdcd10 |
programmed cell death 10 |
|
|
ISS |
2 |
166,402,652 |
166,445,015 |
RGD:7240710 |
OMIM |
Hematologic Diseases
|
| G |
Sbds |
Shwachman-Bodian-Diamond syndrome |
|
|
ISS |
12 |
27,457,313 |
27,466,472 |
RGD:1599541 |
RGD |
| G |
Tbxa2r |
thromboxane A2 receptor |
|
|
ISS |
7 |
9,867,739 |
9,872,536 |
RGD:7240710 |
OMIM |
| G |
Tbxas1 |
thromboxane A synthase 1, platelet |
|
|
ISS |
4 |
66,502,253 |
66,677,538 |
RGD:7240710 |
OMIM |
| G |
Xk |
X-linked Kx blood group (McLeod syndrome) |
|
|
ISS |
X |
25,591,152 |
25,624,913 |
RGD:1354522 |
RGD |
| G |
Xk |
X-linked Kx blood group (McLeod syndrome) |
|
|
ISS |
X |
25,591,152 |
25,624,913 |
RGD:7240710 |
OMIM |
Hematologic Neoplasms
|
| G |
Muc1 |
mucin 1, cell surface associated |
|
|
ISS |
2 |
181,399,482 |
181,403,640 |
RGD:5131276 |
RGD |
| G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
|
|
ISS |
4 |
94,550,328 |
94,610,832 |
RGD:1580756 |
RGD |
| S |
LEW |
Lewis |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Hemoglobin C Disease
|
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600890 |
RGD |
Hemoglobinuria, Paroxysmal
|
| G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
|
|
ISS |
X |
50,797,413 |
50,812,217 |
RGD:7240710 |
OMIM |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
| G |
Gpi |
glucose-6-phosphate isomerase |
|
|
ISS |
1 |
86,658,836 |
86,686,712 |
RGD:7240710 |
OMIM |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
|
| G |
Hk1 |
hexokinase 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Hemolytic Uremic Syndrome, Typical
|
| G |
Ccl3 |
chemokine (C-C motif) ligand 3 |
|
|
ISS |
10 |
71,744,559 |
71,746,109 |
RGD:7241820 |
RGD |
Hemolytic-Uremic Syndrome
|
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:6893534 |
RGD |
| G |
Cfb |
complement factor B |
|
|
ISS |
20 |
4,072,124 |
4,077,802 |
RGD:7240710 |
OMIM |
| G |
Cfh |
complement factor H |
|
|
ISS |
13 |
53,252,249 |
53,355,987 |
RGD:1599886 |
RGD |
| G |
Fos |
FBJ osteosarcoma oncogene |
|
|
ISS |
6 |
109,559,135 |
109,562,001 |
RGD:7242276 |
RGD |
| G |
Hp |
haptoglobin |
|
|
ISS |
19 |
39,443,016 |
39,447,566 |
RGD:1626361 |
RGD |
| G |
Il1rn |
interleukin 1 receptor antagonist |
|
|
ISS |
3 |
2,607,800 |
2,613,216 |
RGD:6909134 |
RGD |
| G |
Il1rn |
interleukin 1 receptor antagonist |
|
|
ISS |
3 |
2,607,800 |
2,613,216 |
RGD:6909171 |
RGD |
Hemophagocytic lymphohistiocytosis, familial, 2
|
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:6482809 |
RGD |
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:7240710 |
OMIM |
Hemophagocytic lymphohistiocytosis, familial, 3
|
| G |
Fhl3 |
four and a half LIM domains 3 |
|
|
ISS |
5 |
144,026,444 |
144,033,195 |
RGD:7240710 |
OMIM |
| G |
Unc13d |
unc-13 homolog D (C. elegans) |
|
|
ISS |
10 |
106,170,475 |
106,185,215 |
RGD:7240710 |
OMIM |
Hemophagocytic lymphohistiocytosis, familial, 4
|
| G |
Stx11 |
syntaxin 11 |
|
|
ISS |
1 |
7,683,757 |
7,685,378 |
RGD:7240710 |
OMIM |
Hemophilia A
|
| G |
F8 |
coagulation factor VIII, procoagulant component |
|
|
ISS |
18 |
121,134 |
162,008 |
RGD:1582357 |
RGD |
| G |
F8 |
coagulation factor VIII, procoagulant component |
|
|
ISS |
18 |
121,134 |
162,008 |
RGD:7240710 |
OMIM |
Hemophilia B
|
| G |
F9 |
coagulation factor IX |
|
|
ISS |
X |
145,527,978 |
145,575,966 |
RGD:1300357 |
RGD |
| G |
F9 |
coagulation factor IX |
|
|
ISS |
X |
145,527,978 |
145,575,966 |
RGD:7240710 |
OMIM |
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
|
| G |
Jam3 |
junctional adhesion molecule 3 |
|
|
ISS |
8 |
26,697,127 |
26,758,579 |
RGD:7240710 |
OMIM |
Hennekam lymphangiectasia lymphedema syndrome
|
| G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
|
|
ISS |
18 |
62,407,265 |
62,442,194 |
RGD:7240710 |
OMIM |
Hermanski-Pudlak Syndrome
|
| G |
Ap3b1 |
adaptor-related protein complex 3, beta 1 subunit |
|
|
ISS |
2 |
24,670,078 |
24,872,770 |
RGD:1578409 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
|
ISS |
10 |
71,605,791 |
71,610,330 |
RGD:4891476 |
RGD |
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:1625056 |
RGD |
| G |
Hps1 |
Hermansky-Pudlak syndrome 1 homolog (human) |
|
|
ISS |
1 |
248,109,643 |
248,134,450 |
RGD:7240710 |
OMIM |
| G |
Hps3 |
Hermansky-Pudlak syndrome 3 homolog (human) |
|
|
ISS |
2 |
105,135,644 |
105,177,925 |
RGD:1599538 |
RGD |
| G |
Hps4 |
Hermansky-Pudlak syndrome 4 |
|
|
ISS |
19 |
14,326,654 |
14,355,770 |
RGD:1599546 |
RGD |
| G |
Hps6 |
Hermansky-Pudlak syndrome 6 |
|
|
ISS |
1 |
251,226,344 |
251,228,953 |
RGD:632833 |
RGD |
| S |
FH |
|
|
|
IAGP |
|
|
|
RGD:1300411 |
RGD |
| S |
TM/Kyo |
tester moriyama rat |
|
|
IAGP |
|
|
|
RGD:1300411 |
RGD |
Hermansky Pudlak syndrome 2
|
| G |
Ap3b1 |
adaptor-related protein complex 3, beta 1 subunit |
|
|
ISS |
2 |
24,670,078 |
24,872,770 |
RGD:7240710 |
OMIM |
Heterotaxy, visceral, X-linked
|
| G |
Zic3 |
Zic family member 3 |
|
|
ISS |
X |
143,128,118 |
143,139,155 |
RGD:7240710 |
OMIM |
Histiocytosis with joint contractures and sensorineural deafness
|
| G |
Slc29a3 |
solute carrier family 29 (nucleoside transporters), member 3 |
|
|
ISS |
20 |
28,041,914 |
28,080,232 |
RGD:7240710 |
OMIM |
Histiocytosis, Non-Langerhans-Cell
|
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:1599929 |
RGD |
| G |
Rab27a |
RAB27A, member RAS oncogene family |
|
|
ISS |
8 |
77,798,830 |
77,861,090 |
RGD:1601587 |
RGD |
| G |
Unc13d |
unc-13 homolog D (C. elegans) |
|
Susceptibility |
ISS |
10 |
106,170,475 |
106,185,215 |
RGD:1600451 |
RGD |
Hodgkin Disease
|
| G |
Jun |
jun proto-oncogene |
|
|
ISS |
5 |
115,358,166 |
115,361,259 |
RGD:1549449 |
RGD |
| G |
Klhdc8b |
kelch domain containing 8B |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
|
|
ISS |
6 |
75,729,302 |
75,732,475 |
RGD:2298893 |
RGD |
| G |
Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
|
|
ISS |
6 |
75,729,302 |
75,732,475 |
RGD:2298894 |
RGD |
| G |
Sdc1 |
syndecan 1 |
|
|
ISS |
6 |
32,253,352 |
32,275,812 |
RGD:1549418 |
RGD |
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
|
| G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
|
ISS |
17 |
5,086,219 |
5,118,086 |
RGD:7240710 |
OMIM |
Hydrops Fetalis
|
| G |
Sftpa1 |
surfactant protein A1 |
|
|
ISS |
16 |
17,570,887 |
17,574,389 |
RGD:4143453 |
RGD |
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
|
| G |
Lbr |
lamin B receptor |
|
|
ISS |
13 |
97,814,439 |
97,834,860 |
RGD:7240710 |
OMIM |
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
|
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:6892956 |
RGD |
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:7240710 |
OMIM |
Hyper-IgM Immunodeficiency Syndrome
|
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
|
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:1599479 |
RGD |
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
| G |
Cd40lg |
CD40 ligand |
|
|
ISS |
X |
141,925,019 |
141,937,183 |
RGD:5490298 |
RGD |
Hypereosinophilic Syndrome
|
| G |
F5 |
coagulation factor V (proaccelerin, labile factor) |
|
|
ISS |
13 |
79,934,956 |
79,997,285 |
RGD:1580361 |
RGD |
| G |
Pdgfra |
platelet derived growth factor receptor, alpha polypeptide |
|
|
ISS |
14 |
35,369,422 |
35,418,126 |
RGD:1580849 |
RGD |
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
|
| G |
Pdgfra |
platelet derived growth factor receptor, alpha polypeptide |
|
|
ISS |
14 |
35,369,422 |
35,418,126 |
RGD:7240710 |
OMIM |
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
|
| G |
Btk |
Bruton agammaglobulinemia tyrosine kinase |
|
|
ISS |
X |
121,998,935 |
122,030,289 |
RGD:7240710 |
OMIM |
Hypoproteinemia
|
| G |
Alb |
albumin |
|
Susceptibility |
ISS |
14 |
19,126,935 |
19,142,214 |
RGD:1599028 |
RGD |
| G |
Alb |
albumin |
|
|
IAGP |
14 |
19,126,935 |
19,142,214 |
RGD:734959 |
RGD |
| G |
Apoa1 |
apolipoprotein A-I |
|
|
IED |
|
|
|
RGD:1599161 |
RGD |
| G |
B2m |
beta-2 microglobulin |
|
Susceptibility |
ISS |
3 |
108,927,919 |
108,932,718 |
RGD:1599429 |
RGD |
| G |
Lipc |
lipase, hepatic |
|
|
IAGP |
8 |
75,323,442 |
75,450,353 |
RGD:2308785 |
RGD |
| G |
Rps6kb1 |
ribosomal protein S6 kinase, polypeptide 1 |
|
|
IED |
10 |
76,657,024 |
76,698,088 |
RGD:1643028 |
RGD |
Hypoprothrombinemias
|
| G |
F2 |
coagulation factor II |
|
|
ISS |
3 |
76,005,318 |
76,018,603 |
RGD:1601108 |
RGD |
| G |
F2 |
coagulation factor II |
|
|
ISS |
3 |
76,005,318 |
76,018,603 |
RGD:7240710 |
OMIM |
| G |
F7 |
coagulation factor VII (serum prothrombin conversion accelerator) |
|
|
IEP |
16 |
81,348,678 |
81,358,991 |
RGD:2312318 |
RGD |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
|
| G |
Sox18 |
SRY (sex determining region Y)-box 18 |
|
|
ISS |
3 |
170,820,460 |
170,822,262 |
RGD:7240710 |
OMIM |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
|
| G |
Cldn1 |
claudin 1 |
|
|
ISS |
11 |
76,473,654 |
76,488,809 |
RGD:7240710 |
OMIM |
Immunoglobulin a deficiency 2
|
| G |
Tnfrsf13b |
tumor necrosis factor receptor superfamily, member 13B |
|
|
ISS |
10 |
47,286,663 |
47,295,026 |
RGD:7240710 |
OMIM |
Intrinsic Factor Deficiency
|
| G |
Gif |
gastric intrinsic factor |
|
|
ISS |
1 |
214,519,329 |
214,533,578 |
RGD:7240710 |
OMIM |
Iron-Refractory Iron Deficiency Anemia
|
| G |
Tmprss6 |
transmembrane protease, serine 6 |
|
|
ISS |
7 |
116,391,730 |
116,419,671 |
RGD:7240710 |
OMIM |
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
|
| G |
Smad4 |
SMAD family member 4 |
|
|
ISS |
18 |
70,432,705 |
70,461,541 |
RGD:7240710 |
OMIM |
Kernicterus
|
| S |
ACI/N-j |
|
|
|
TAS |
|
|
|
RGD:1302917 |
RGD |
Leukemia, B-Cell
|
| G |
Il5 |
interleukin 5 |
|
|
ISS |
10 |
39,177,786 |
39,180,657 |
RGD:7241068 |
RGD |
| G |
Myc |
myelocytomatosis oncogene |
|
|
ISS |
7 |
98,953,142 |
98,958,060 |
RGD:7207416 |
RGD |
Leukemia, Large Granular Lymphocytic
|
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:6892936 |
RGD |
Leukemia, Lymphocytic, Chronic, B-Cell
|
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
|
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490532 |
RGD |
| G |
Gnas |
GNAS complex locus |
|
Disease_progression |
ISS |
3 |
165,213,399 |
165,214,551 |
RGD:1601379 |
RGD |
| G |
Ms4a1 |
membrane-spanning 4-domains, subfamily A, member 1 |
|
|
ISS |
1 |
213,763,696 |
213,770,756 |
RGD:2316994 |
RGD |
| G |
Thbd |
thrombomodulin |
|
|
ISS |
3 |
137,158,955 |
137,162,607 |
RGD:5685033 |
RGD |
Leukemia, Lymphoid
|
| G |
Lyl1 |
lymphoblastic leukemia derived sequence 1 |
|
|
ISS |
19 |
25,115,234 |
25,118,100 |
RGD:7240710 |
OMIM |
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
|
| G |
Abl1 |
c-abl oncogene 1, non-receptor tyrosine kinase |
|
Susceptibility |
ISS |
3 |
10,804,594 |
10,907,162 |
RGD:1598673 |
RGD |
| G |
Abl2 |
v-abl Abelson murine leukemia viral oncogene homolog 2 |
|
|
TAS |
13 |
71,546,918 |
71,915,301 |
RGD:1298615 |
RGD |
| G |
Bcr |
breakpoint cluster region |
|
Susceptibility |
ISS |
20 |
13,972,773 |
14,097,816 |
RGD:1600510 |
RGD |
| G |
Bcr |
breakpoint cluster region |
|
|
ISS |
20 |
13,972,773 |
14,097,816 |
RGD:7240710 |
OMIM |
| G |
Mlf1 |
myeloid leukemia factor 1 |
|
|
ISS |
2 |
157,230,783 |
157,263,847 |
RGD:1600902 |
RGD |
| G |
Npm1 |
nucleophosmin (nucleolar phosphoprotein B23, numatrin) |
|
|
ISS |
10 |
18,051,990 |
18,062,714 |
RGD:1600902 |
RGD |
Leukemia, Myelomonocytic, Juvenile
|
| G |
Arhgap26 |
Rho GTPase activating protein 26 |
|
|
ISS |
18 |
31,934,753 |
32,327,551 |
RGD:7240710 |
OMIM |
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:7240710 |
OMIM |
| G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
|
ISS |
12 |
36,501,886 |
36,558,055 |
RGD:7240710 |
OMIM |
Leukemia, Plasma Cell
|
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
|
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490532 |
RGD |
| G |
Myc |
myelocytomatosis oncogene |
|
|
ISS |
7 |
98,953,142 |
98,958,060 |
RGD:1580901 |
RGD |
Leukemia, T-Cell
|
| G |
Tcl1a |
T-cell leukemia/lymphoma 1A |
|
|
ISS |
6 |
129,370,968 |
129,376,961 |
RGD:1599360 |
RGD |
Leukemia-Lymphoma, Adult T-Cell
|
| G |
Add3 |
adducin 3 (gamma) |
|
|
ISS |
1 |
259,347,673 |
259,455,407 |
RGD:1300354 |
RGD |
| G |
Bax |
Bcl2-associated X protein |
|
Susceptibility |
ISS |
1 |
95,933,023 |
95,938,176 |
RGD:734634 |
RGD |
| G |
Cd80 |
Cd80 molecule |
|
|
IPM |
11 |
64,045,358 |
64,070,072 |
RGD:6902938 |
RGD |
| G |
Cd86 |
CD86 molecule |
|
|
IPM |
11 |
66,215,233 |
66,238,882 |
RGD:6902938 |
RGD |
| G |
Notch1 |
notch 1 |
|
|
ISS |
3 |
4,631,797 |
4,677,640 |
RGD:1580760 |
RGD |
| G |
Notch1 |
notch 1 |
|
|
ISS |
3 |
4,631,797 |
4,677,640 |
RGD:1580759 |
RGD |
| G |
Tal2 |
T-cell acute lymphocytic leukemia 2 |
|
|
ISS |
5 |
71,225,719 |
71,232,276 |
RGD:1599285 |
RGD |
| G |
Tlx1 |
T-cell leukemia, homeobox 1 |
|
|
ISS |
1 |
250,255,343 |
250,261,604 |
RGD:1599439 |
RGD |
| G |
Tlx1 |
T-cell leukemia, homeobox 1 |
|
|
ISS |
1 |
250,255,343 |
250,261,604 |
RGD:7240710 |
OMIM |
| G |
Tp53 |
tumor protein p53 |
|
|
IEA |
10 |
56,399,721 |
56,411,150 |
RGD:1331525 |
RGD |
LEUKOCYTE ADHESION DEFICIENCY, TYPE I
|
| G |
Itgb2 |
integrin, beta 2 |
|
|
ISS |
20 |
11,446,521 |
11,485,009 |
RGD:7240710 |
OMIM |
Leukocytosis
|
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:4142837 |
RGD |
| G |
Npy5r |
neuropeptide Y receptor Y5 |
|
|
IED |
16 |
24,765,175 |
24,773,132 |
RGD:729324 |
RGD |
Leukopenia
|
| G |
Thoc5 |
THO complex 5 |
|
|
ISS |
14 |
85,561,381 |
85,612,915 |
RGD:2317224 |
RGD |
| Q |
Wbc3 |
White blood cell count QTL 3 |
|
Induced |
IAGP |
5 |
112,840,801 |
157,840,801 |
RGD:2316974 |
RGD |
| Q |
Wbc4 |
White blood cell count QTL 4 |
|
Induced |
IAGP |
7 |
1 |
36,741,943 |
RGD:2316974 |
RGD |
| Q |
Wbc5 |
White blood cell count QTL 5 |
|
Induced |
IAGP |
8 |
10,116,155 |
55,116,155 |
RGD:2316974 |
RGD |
Lymphangioleiomyomatosis
|
| G |
Esr1 |
estrogen receptor 1 |
|
|
ISS |
1 |
35,523,680 |
35,759,891 |
RGD:4892300 |
RGD |
| G |
Mmp9 |
matrix metallopeptidase 9 |
|
|
ISS |
3 |
155,985,473 |
155,993,433 |
RGD:5129697 |
RGD |
| G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
|
|
ISS |
4 |
6,158,847 |
6,179,441 |
RGD:4892080 |
RGD |
| G |
Srf |
serum response factor (c-fos serum response element-binding transcription factor) |
|
|
ISS |
9 |
9,788,378 |
9,797,639 |
RGD:1580753 |
RGD |
| G |
Stat1 |
signal transducer and activator of transcription 1 |
|
|
ISS |
9 |
46,455,635 |
46,497,560 |
RGD:2298537 |
RGD |
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:2298537 |
RGD |
| G |
Tsc1 |
tuberous sclerosis 1 |
|
|
ISS |
3 |
7,645,313 |
7,672,944 |
RGD:7240710 |
OMIM |
| G |
Tsc2 |
tuberous sclerosis 2 |
|
|
ISS |
10 |
13,848,210 |
13,883,189 |
RGD:1580521 |
RGD |
| G |
Tsc2 |
tuberous sclerosis 2 |
|
|
ISS |
10 |
13,848,210 |
13,883,189 |
RGD:7240710 |
OMIM |
Lymphedema
|
| G |
Flt4 |
fms-related tyrosine kinase 4 |
|
|
ISS |
10 |
35,071,002 |
35,112,006 |
RGD:704404 |
RGD |
| G |
Foxc2 |
forkhead box C2 |
|
|
ISS |
|
|
|
RGD:1601216 |
RGD |
| G |
Foxc2 |
forkhead box C2 |
|
|
ISS |
|
|
|
RGD:1601217 |
RGD |
| G |
Pgf |
placental growth factor |
|
|
ISS |
6 |
109,215,540 |
109,226,122 |
RGD:6483608 |
RGD |
| G |
Sox18 |
SRY (sex determining region Y)-box 18 |
|
|
ISS |
3 |
170,820,460 |
170,822,262 |
RGD:1599075 |
RGD |
Lymphedema distichiasis syndrome
|
| G |
Foxc2 |
forkhead box C2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
LYMPHEDEMA, HEREDITARY, IA
|
| G |
Flt4 |
fms-related tyrosine kinase 4 |
|
|
ISS |
10 |
35,071,002 |
35,112,006 |
RGD:7240710 |
OMIM |
LYMPHEDEMA, HEREDITARY, IC
|
| G |
Gjc2 |
gap junction protein, gamma 2 |
|
|
ISS |
10 |
45,480,937 |
45,488,651 |
RGD:7240710 |
OMIM |
Lymphohistiocytosis, Hemophagocytic
|
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:6482810 |
RGD |
Lymphoma
|
| G |
Ccnb1 |
cyclin B1 |
|
|
ISS |
2 |
31,574,600 |
31,581,784 |
RGD:2315935 |
RGD |
| G |
Malt1 |
mucosa associated lymphoid tissue lymphoma translocation gene 1 |
|
|
ISS |
18 |
61,708,388 |
61,760,004 |
RGD:1599913 |
RGD |
| G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
|
|
ISS |
8 |
48,938,556 |
48,957,109 |
RGD:4107059 |
RGD |
| G |
Psmb9 |
proteasome (prosome, macropain) subunit, beta type, 9 |
|
|
ISS |
20 |
4,801,187 |
4,806,608 |
RGD:6483350 |
RGD |
| G |
Rela |
v-rel reticuloendotheliosis viral oncogene homolog A (avian) |
|
|
ISS |
1 |
208,262,669 |
208,273,148 |
RGD:2298891 |
RGD |
| G |
Sox4 |
SRY (sex determining region Y)-box 4 |
|
|
ISS |
17 |
42,172,863 |
42,177,590 |
RGD:1581305 |
RGD |
| S |
LEXF/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF10A/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF10B/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF10C/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF11/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF1A/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF1C/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF2A/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF2B/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF3/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF4/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF5/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF6B/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF7A/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF7B/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
LEXF7C/Stm |
|
|
|
QTM |
|
|
|
RGD:619600 |
RGD |
| S |
WF |
Wistar Furth |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Lymphoma, B-Cell
|
| G |
Bcl6 |
B-cell CLL/lymphoma 6 |
|
|
ISS |
11 |
79,006,123 |
79,030,555 |
RGD:1600111 |
RGD |
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
|
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490532 |
RGD |
| G |
Il21r |
interleukin 21 receptor |
|
|
ISS |
1 |
184,665,737 |
184,693,583 |
RGD:1600111 |
RGD |
| G |
Lgals1 |
lectin, galactoside-binding, soluble, 1 |
|
|
IEP |
7 |
116,893,662 |
116,896,768 |
RGD:2316550 |
RGD |
| G |
Sdc1 |
syndecan 1 |
|
|
ISS |
6 |
32,253,352 |
32,275,812 |
RGD:1549418 |
RGD |
| G |
Tnfsf9 |
tumor necrosis factor (ligand) superfamily, member 9 |
|
|
ISS |
|
|
|
RGD:2317349 |
RGD |
Lymphoma, B-Cell, Marginal Zone
|
| G |
RT1-Ba |
RT1 class II, locus Ba |
|
|
ISS |
20 |
4,697,971 |
4,702,564 |
RGD:5147794 |
RGD |
| G |
RT1-Bb |
RT1 class II, locus Bb |
|
|
ISS |
20 |
4,730,559 |
4,736,201 |
RGD:5147794 |
RGD |
| G |
Tp53 |
tumor protein p53 |
|
|
IEA |
10 |
56,399,721 |
56,411,150 |
RGD:1331525 |
RGD |
Lymphoma, Follicular
|
| G |
Bcl2 |
B-cell CLL/lymphoma 2 |
|
Susceptibility |
ISS |
13 |
12,730,736 |
12,905,108 |
RGD:1599473 |
RGD |
| G |
Bcl2 |
B-cell CLL/lymphoma 2 |
|
|
ISS |
13 |
12,730,736 |
12,905,108 |
RGD:734639 |
RGD |
| G |
Bcl2 |
B-cell CLL/lymphoma 2 |
|
|
ISS |
13 |
12,730,736 |
12,905,108 |
RGD:7240710 |
OMIM |
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
Susceptibility |
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490541 |
RGD |
| G |
Kdsr |
3-ketodihydrosphingosine reductase |
|
|
ISS |
13 |
12,914,967 |
12,946,853 |
RGD:1598985 |
RGD |
Lymphoma, Large B-Cell, Diffuse
|
| G |
Bcl6 |
B-cell CLL/lymphoma 6 |
|
|
ISS |
11 |
79,006,123 |
79,030,555 |
RGD:1600111 |
RGD |
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
Susceptibility |
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490541 |
RGD |
| G |
Il21r |
interleukin 21 receptor |
|
|
ISS |
1 |
184,665,737 |
184,693,583 |
RGD:1600111 |
RGD |
| G |
Mki67 |
antigen identified by monoclonal antibody Ki-67 |
|
Disease_progression |
ISS |
1 |
195,310,027 |
195,336,224 |
RGD:6483541 |
RGD |
| G |
Mthfr |
methylenetetrahydrofolate reductase (NAD(P)H) |
|
Susceptibility |
ISS |
5 |
165,112,850 |
165,126,885 |
RGD:6893517 |
RGD |
| G |
Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
|
No_Association |
ISS |
6 |
75,729,302 |
75,732,475 |
RGD:2298905 |
RGD |
Lymphoma, Large-Cell, Anaplastic
|
| G |
Alk |
anaplastic lymphoma receptor tyrosine kinase |
|
|
ISS |
6 |
23,009,061 |
23,730,939 |
RGD:1600902 |
RGD |
| G |
Npm1 |
nucleophosmin (nucleolar phosphoprotein B23, numatrin) |
|
|
ISS |
10 |
18,051,990 |
18,062,714 |
RGD:1600902 |
RGD |
Lymphoma, Non-Hodgkin
|
| G |
Anxa7 |
annexin A7 |
|
|
ISS |
15 |
4,047,956 |
4,075,981 |
RGD:2292654 |
RGD |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
|
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:1601063 |
RGD |
| G |
Kmt2a |
lysine (K)-specific methyltransferase 2A |
|
|
ISS |
8 |
47,759,175 |
47,834,586 |
RGD:1625285 |
RGD |
| G |
Malt1 |
mucosa associated lymphoid tissue lymphoma translocation gene 1 |
|
|
ISS |
18 |
61,708,388 |
61,760,004 |
RGD:1599912 |
RGD |
LYMPHOMA, NON-HODGKIN, FAMILIAL
|
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:7240710 |
OMIM |
| G |
Rad54l |
RAD54 like (S. cerevisiae) |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Lymphoma, T-Cell
|
| G |
Ier3 |
immediate early response 3 |
|
|
ISS |
20 |
3,076,568 |
3,077,772 |
RGD:1331843 |
RGD |
| G |
Xrcc6 |
X-ray repair complementing defective repair in Chinese hamster cells 6 |
|
|
ISS |
7 |
120,401,944 |
120,422,923 |
RGD:704404 |
RGD |
| Q |
Tls1 |
T-lymphoma susceptibility QTL 1 |
|
|
IED |
5 |
94,515,803 |
139,515,803 |
RGD:619600 |
RGD |
| Q |
Tls2 |
T-lymphoma susceptibility QTL 2 |
|
|
IED |
7 |
85,090,032 |
137,838,850 |
RGD:619600 |
RGD |
| Q |
Tls3 |
T-lymphoma susceptibility QTL 3 |
|
|
IED |
10 |
53,781,298 |
100,090,301 |
RGD:619600 |
RGD |
Lymphopenia
|
| G |
Ada |
adenosine deaminase |
|
|
ISS |
3 |
154,636,530 |
154,660,637 |
RGD:1300251 |
RGD |
| G |
Ccl28 |
chemokine (C-C motif) ligand 28 |
|
|
IEP |
2 |
51,688,294 |
51,712,931 |
RGD:4892224 |
RGD |
| G |
Cd28 |
Cd28 molecule |
|
|
IPM |
9 |
59,342,273 |
59,367,743 |
RGD:2307205 |
RGD |
| G |
Gimap5 |
GTPase, IMAP family member 5 |
|
|
IAGP |
4 |
76,836,521 |
76,843,214 |
RGD:619544 |
RGD |
| G |
Il2ra |
interleukin 2 receptor, alpha |
|
|
ISS |
17 |
78,050,491 |
78,097,802 |
RGD:1600117 |
RGD |
| G |
Vav1 |
vav 1 guanine nucleotide exchange factor |
|
|
IEP |
|
|
|
RGD:2306005 |
RGD |
| S |
BB/N |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
BBDP.WF-(D8Rat59-D8Sunn1467)/Sunn |
|
|
|
IED |
8 |
112,242,639 |
128,970,675 |
RGD:1624306 |
RGD |
| S |
BBDP/Rhw |
|
|
|
IED |
|
|
|
RGD:61480 |
RGD |
| S |
BBDP/WorN |
|
|
Onset |
IED |
|
|
|
RGD:1578691 |
RGD |
| S |
BBDR.BBDP-(D4Mit6-D4Mit7)/1Rhw |
|
|
|
IED |
4 |
75,732,943 |
75,733,127 |
RGD:2293508 |
RGD |
| S |
BBDR.BBDP-(D4Mit6-D4Mit7)/2Rhw |
|
|
|
IED |
4 |
75,732,943 |
75,733,127 |
RGD:2293508 |
RGD |
| S |
BBDR.BBDP-(D4Mit6-D4Mit7)/3Rhw |
|
|
|
IED |
4 |
75,732,943 |
75,733,127 |
RGD:2293508 |
RGD |
| S |
BBDR.BBDP-(D4Rhw11-D4Rhw10)/Rhw |
|
|
|
TAS |
4 |
75,808,584 |
77,809,321 |
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Arb11-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Got33-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Got59-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat102-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/1Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/2Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat102-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/3Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat153-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat153-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat253-D4Rat27),BBDP-(D4Rhw11-D4Rhw10)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat253-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat26-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR.F344-(D4Rat27-D4Rhw8),BBDP-(D4Rhw6-D4Rat62)/Rhw |
|
|
|
IED |
|
|
|
RGD:2306526 |
RGD |
| S |
BBDR/RhwRrrc |
|
|
Resistance |
TAS |
|
|
|
RGD:2292495 |
RGD |
| S |
BBDR/WorN |
|
|
No_Association |
IED |
|
|
|
RGD:1578691 |
RGD |
| S |
BBZ |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
BDII |
|
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
| S |
F344.DR(DP)-(D4Mit6-D4Mit24)/Rhw |
|
|
|
QTM |
4 |
75,732,943 |
78,039,637 |
RGD:1303385 |
RGD |
| S |
WIN/RhwRrrc |
|
|
|
TAS |
|
|
|
RGD:2292495 |
RGD |
Lymphoproliferative Disorders
|
| G |
B2m |
beta-2 microglobulin |
|
|
ISS |
3 |
108,927,919 |
108,932,718 |
RGD:6482705 |
RGD |
| G |
B2m |
beta-2 microglobulin |
|
|
ISS |
3 |
108,927,919 |
108,932,718 |
RGD:6483039 |
RGD |
| G |
Casp8 |
caspase 8 |
|
|
ISS |
9 |
57,389,353 |
57,437,803 |
RGD:734696 |
RGD |
| G |
Fas |
Fas cell surface death receptor |
|
Susceptibility |
ISS |
1 |
238,259,443 |
238,274,745 |
RGD:1600310 |
RGD |
| G |
Nras |
neuroblastoma ras oncogene |
|
|
ISS |
2 |
198,292,650 |
198,300,286 |
RGD:7240710 |
OMIM |
| G |
Sh2d1a |
SH2 domain containing 1A |
|
|
ISS |
X |
2,532,295 |
2,560,524 |
RGD:7240710 |
OMIM |
| G |
Slc11a1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
|
|
ISS |
9 |
73,714,692 |
73,725,523 |
RGD:5684949 |
RGD |
| G |
Stat3 |
signal transducer and activator of transcription 3 (acute-phase response factor) |
|
|
ISS |
10 |
89,821,078 |
89,872,970 |
RGD:6892715 |
RGD |
| G |
Tap2 |
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
|
Susceptibility |
ISS |
20 |
4,770,446 |
4,784,488 |
RGD:1601413 |
RGD |
| G |
Xiap |
X-linked inhibitor of apoptosis |
|
|
ISS |
X |
3,011,520 |
3,047,798 |
RGD:7240710 |
OMIM |
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
|
| G |
Itk |
IL2-inducible T-cell kinase |
|
|
ISS |
10 |
31,455,982 |
31,518,075 |
RGD:7240710 |
OMIM |
Macrophage Activation Syndrome
|
| G |
Prf1 |
perforin 1 (pore forming protein) |
|
|
ISS |
20 |
28,658,367 |
28,663,877 |
RGD:6482811 |
RGD |
Macrothrombocytopenia progressive deafness
|
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:7240710 |
OMIM |
Majeed syndrome
|
| G |
Lpin2 |
lipin 2 |
|
|
ISS |
9 |
110,380,692 |
110,484,329 |
RGD:7240710 |
OMIM |
May-Hegglin anomaly
|
| G |
Myh9 |
myosin, heavy chain 9, non-muscle |
|
|
ISS |
7 |
115,681,459 |
115,732,774 |
RGD:7240710 |
OMIM |
MEGALOBLASTIC ANEMIA 1
|
| G |
Amn |
amnion associated transmembrane protein |
|
|
ISS |
6 |
136,031,478 |
136,038,919 |
RGD:7240710 |
OMIM |
| G |
Cubn |
cubilin (intrinsic factor-cobalamin receptor) |
|
|
ISS |
17 |
87,545,893 |
87,772,079 |
RGD:7240710 |
OMIM |
Methemoglobinemia
|
| G |
Asic1 |
acid-sensing (proton-gated) ion channel 1 |
|
|
ISS |
7 |
138,414,656 |
138,443,272 |
RGD:1300339 |
RGD |
| G |
Cyb5a |
cytochrome b5 type A (microsomal) |
|
|
ISS |
18 |
81,415,972 |
81,452,606 |
RGD:1599659 |
RGD |
| G |
Cyb5r3 |
cytochrome b5 reductase 3 |
|
|
ISS |
7 |
121,187,821 |
121,205,382 |
RGD:734886 |
RGD |
| G |
Cyb5r3 |
cytochrome b5 reductase 3 |
|
|
ISS |
7 |
121,187,821 |
121,205,382 |
RGD:1599771 |
RGD |
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:7240710 |
OMIM |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
Methemoglobinemia Type IV
|
| G |
Cyb5a |
cytochrome b5 type A (microsomal) |
|
|
ISS |
18 |
81,415,972 |
81,452,606 |
RGD:7240710 |
OMIM |
Mevalonate Kinase Deficiency
|
| G |
Mvk |
mevalonate kinase |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Mucocutaneous Lymph Node Syndrome
|
| G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
|
ISS |
11 |
79,908,291 |
79,911,065 |
RGD:5686751 |
RGD |
| G |
Flt1 |
FMS-related tyrosine kinase 1 |
|
|
ISS |
12 |
7,858,092 |
8,035,966 |
RGD:1582494 |
RGD |
| G |
Hmox1 |
heme oxygenase (decycling) 1 |
|
No_Association |
ISS |
19 |
13,963,139 |
13,969,960 |
RGD:1598409 |
RGD |
| G |
Hp |
haptoglobin |
|
|
ISS |
19 |
39,443,016 |
39,447,566 |
RGD:5147383 |
RGD |
| G |
Il13 |
interleukin 13 |
|
|
ISS |
10 |
39,093,512 |
39,096,069 |
RGD:5684363 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:6482661 |
RGD |
| G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
|
ISS |
1 |
82,284,846 |
82,306,422 |
RGD:7240710 |
OMIM |
| G |
Nppb |
natriuretic peptide B |
|
|
ISS |
5 |
165,062,348 |
165,063,650 |
RGD:5685654 |
RGD |
| G |
Selp |
selectin P |
|
|
ISS |
13 |
79,886,614 |
79,922,180 |
RGD:6478695 |
RGD |
| G |
Tnf |
tumor necrosis factor |
|
|
ISS |
20 |
3,661,000 |
3,663,618 |
RGD:1580318 |
RGD |
| G |
Vegfa |
vascular endothelial growth factor A |
|
|
ISS |
9 |
10,520,730 |
10,536,071 |
RGD:1580572 |
RGD |
Multiple Myeloma
|
| G |
Ccnd1 |
cyclin D1 |
|
|
ISS |
1 |
205,357,235 |
205,366,757 |
RGD:1581171 |
RGD |
| G |
Ccnd2 |
cyclin D2 |
|
|
ISS |
4 |
163,523,817 |
163,546,501 |
RGD:1581171 |
RGD |
| G |
Ccnd3 |
cyclin D3 |
|
|
ISS |
|
|
|
RGD:1581171 |
RGD |
| G |
Chi3l1 |
chitinase 3-like 1 (cartilage glycoprotein-39) |
|
Severity |
ISS |
13 |
47,139,658 |
47,147,591 |
RGD:4892645 |
RGD |
| G |
Irf4 |
interferon regulatory factor 4 |
|
|
ISS |
17 |
40,170,409 |
40,189,976 |
RGD:1600211 |
RGD |
| G |
Irf4 |
interferon regulatory factor 4 |
|
|
ISS |
17 |
40,170,409 |
40,189,976 |
RGD:7240710 |
OMIM |
| G |
Kras |
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog |
|
|
ISS |
4 |
182,869,242 |
182,895,106 |
RGD:1581756 |
RGD |
| G |
Lig4 |
ligase IV, DNA, ATP-dependent |
|
|
ISS |
16 |
84,881,880 |
84,888,448 |
RGD:1600305 |
RGD |
| G |
Lig4 |
ligase IV, DNA, ATP-dependent |
|
|
ISS |
16 |
84,881,880 |
84,888,448 |
RGD:7240710 |
OMIM |
| G |
Met |
met proto-oncogene |
|
|
ISS |
4 |
43,134,183 |
43,211,355 |
RGD:2317526 |
RGD |
| G |
Myc |
myelocytomatosis oncogene |
|
|
ISS |
7 |
98,953,142 |
98,958,060 |
RGD:1580901 |
RGD |
| G |
Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
|
|
ISS |
6 |
75,729,302 |
75,732,475 |
RGD:2298898 |
RGD |
| G |
Nfkbia |
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha |
|
|
ISS |
6 |
75,729,302 |
75,732,475 |
RGD:2298895 |
RGD |
| G |
Notch2 |
notch 2 |
|
|
ISS |
2 |
192,839,350 |
192,986,589 |
RGD:1580763 |
RGD |
| G |
Runx1 |
runt-related transcription factor 1 |
|
|
ISS |
11 |
32,623,461 |
32,725,404 |
RGD:6482834 |
RGD |
| G |
Sod2 |
superoxide dismutase 2, mitochondrial |
|
|
ISS |
1 |
41,862,997 |
41,870,327 |
RGD:1581238 |
RGD |
| G |
Spp1 |
secreted phosphoprotein 1 |
|
|
ISS |
|
|
|
RGD:1581367 |
RGD |
| G |
Tnfrsf17 |
tumor necrosis factor receptor superfamily, member 17 |
|
|
ISS |
10 |
4,187,672 |
4,193,420 |
RGD:2317306 |
RGD |
Myelodysplastic Syndromes
|
| G |
Etv6 |
ets variant 6 |
|
|
ISS |
4 |
170,909,412 |
171,150,381 |
RGD:1581019 |
RGD |
| G |
Slc22a5 |
solute carrier family 22 (organic cation/carnitine transporter), member 5 |
|
|
ISS |
10 |
39,311,729 |
39,338,718 |
RGD:1580610 |
RGD |
| G |
Smad5 |
SMAD family member 5 |
|
|
ISS |
17 |
13,814,164 |
13,824,358 |
RGD:1580755 |
RGD |
| G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
|
ISS |
7 |
76,210,472 |
76,654,443 |
RGD:1580640 |
RGD |
Myeloproliferative Disorder, Chronic, with Eosinophilia
|
| G |
Pdgfrb |
platelet derived growth factor receptor, beta polypeptide |
|
|
ISS |
18 |
57,014,475 |
57,053,581 |
RGD:7240710 |
OMIM |
Myeloproliferative Disorders
|
| G |
Alox12 |
arachidonate 12-lipoxygenase |
|
|
ISS |
10 |
57,080,603 |
57,092,874 |
RGD:1578309 |
RGD |
| G |
Egr1 |
early growth response 1 |
|
|
IPM |
18 |
27,343,919 |
27,346,117 |
RGD:5131859 |
RGD |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:7240710 |
OMIM |
NADH cytochrome B5 reductase deficiency
|
| G |
Cyb5r3 |
cytochrome b5 reductase 3 |
|
|
ISS |
7 |
121,187,821 |
121,205,382 |
RGD:7240710 |
OMIM |
Neutropenia
|
| G |
Ap3b1 |
adaptor-related protein complex 3, beta 1 subunit |
|
|
ISS |
2 |
24,670,078 |
24,872,770 |
RGD:1578409 |
RGD |
| G |
C5 |
complement component 5 |
|
|
ISS |
3 |
14,011,115 |
14,102,744 |
RGD:5130180 |
RGD |
| G |
C5 |
complement component 5 |
|
|
IED |
3 |
14,011,115 |
14,102,744 |
RGD:1600665 |
RGD |
| G |
C5ar1 |
complement component 5a receptor 1 |
|
|
IED |
|
|
|
RGD:5130180 |
RGD |
| G |
Cxcr4 |
chemokine (C-X-C motif) receptor 4 |
|
|
ISS |
13 |
41,308,286 |
41,312,190 |
RGD:734860 |
RGD |
| G |
Elane |
elastase, neutrophil expressed |
|
|
ISS |
7 |
11,329,642 |
11,331,490 |
RGD:1598891 |
RGD |
| G |
Ercc2 |
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
|
|
ISS |
|
|
|
RGD:5688741 |
RGD |
| G |
Fcgr3a |
Fc fragment of IgG, low affinity IIIa, receptor |
|
|
ISS |
13 |
86,867,641 |
86,877,665 |
RGD:1598927 |
RGD |
| G |
Gfi1 |
growth factor independent 1 transcription repressor |
|
|
ISS |
14 |
2,597,303 |
2,606,681 |
RGD:704404 |
RGD |
| G |
Mki67 |
antigen identified by monoclonal antibody Ki-67 |
|
|
ISS |
1 |
195,310,027 |
195,336,224 |
RGD:6483522 |
RGD |
| G |
Tnf |
tumor necrosis factor |
|
|
ISS |
20 |
3,661,000 |
3,663,618 |
RGD:1580321 |
RGD |
NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
|
| G |
Gfi1 |
growth factor independent 1 transcription repressor |
|
|
ISS |
14 |
2,597,303 |
2,606,681 |
RGD:7240710 |
OMIM |
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
|
| G |
Elane |
elastase, neutrophil expressed |
|
|
ISS |
7 |
11,329,642 |
11,331,490 |
RGD:7240710 |
OMIM |
NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
|
| G |
Gfi1 |
growth factor independent 1 transcription repressor |
|
|
ISS |
14 |
2,597,303 |
2,606,681 |
RGD:7240710 |
OMIM |
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
|
| G |
G6pc3 |
glucose 6 phosphatase, catalytic, 3 |
|
|
ISS |
10 |
91,260,522 |
91,264,754 |
RGD:7240710 |
OMIM |
Neutropenia, Severe Congenital, X-Linked
|
| G |
Was |
Wiskott-Aldrich syndrome |
|
|
ISS |
X |
26,436,292 |
26,444,997 |
RGD:7240710 |
OMIM |
Neutrophilia, Hereditary
|
| G |
Csf3r |
colony stimulating factor 3 receptor (granulocyte) |
|
|
ISS |
5 |
145,374,596 |
145,394,045 |
RGD:7240710 |
OMIM |
Niemann-Pick Disease, Type A
|
| G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
Disease_progression |
ISS |
4 |
143,705,360 |
144,030,051 |
RGD:6482797 |
RGD |
| G |
Smpd1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
|
|
ISS |
1 |
163,278,970 |
163,282,813 |
RGD:7240710 |
OMIM |
Niemann-Pick Disease, Type B
|
| G |
Smpd1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
|
|
ISS |
1 |
163,278,970 |
163,282,813 |
RGD:7240710 |
OMIM |
Niemann-Pick Disease, Type C
|
| G |
Npc1 |
Niemann-Pick disease, type C1 |
|
|
ISS |
18 |
3,725,415 |
3,777,707 |
RGD:7240710 |
OMIM |
Niemann-Pick disease, type C2
|
| G |
Npc2 |
Niemann-Pick disease, type C2 |
|
|
ISS |
6 |
108,793,935 |
108,814,703 |
RGD:7240710 |
OMIM |
Niemann-Pick Diseases
|
| G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
|
|
ISS |
7 |
67,120,782 |
67,127,697 |
RGD:704404 |
RGD |
| G |
Npc2 |
Niemann-Pick disease, type C2 |
|
|
ISS |
6 |
108,793,935 |
108,814,703 |
RGD:1601483 |
RGD |
| G |
Smpd1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
|
Susceptibility |
ISS |
1 |
163,278,970 |
163,282,813 |
RGD:1601336 |
RGD |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
|
| G |
Shoc2 |
soc-2 (suppressor of clear) homolog (C. elegans) |
|
|
ISS |
1 |
260,255,253 |
260,273,170 |
RGD:7240710 |
OMIM |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
| G |
Cbl |
Cbl proto-oncogene, E3 ubiquitin protein ligase |
|
|
ISS |
8 |
47,135,357 |
47,211,889 |
RGD:7240710 |
OMIM |
Occipital horn syndrome
|
| G |
Atp7a |
ATPase, Cu++ transporting, alpha polypeptide |
|
|
ISS |
X |
94,192,540 |
94,249,776 |
RGD:7240710 |
OMIM |
Osler-rendu-weber syndrome 2
|
| G |
Acvrl1 |
activin A receptor type II-like 1 |
|
|
ISS |
7 |
139,873,596 |
139,884,675 |
RGD:7240710 |
OMIM |
Osteopetrosis, Autosomal Recessive 7
|
| G |
Tnfrsf11a |
tumor necrosis factor receptor superfamily, member 11a, NFKB activator |
|
|
ISS |
13 |
11,958,002 |
12,014,371 |
RGD:7240710 |
OMIM |
Pelger-Huet Anomaly
|
| G |
Lbr |
lamin B receptor |
|
Susceptibility |
ISS |
13 |
97,814,439 |
97,834,860 |
RGD:1600215 |
RGD |
| G |
Lbr |
lamin B receptor |
|
|
ISS |
13 |
97,814,439 |
97,834,860 |
RGD:7240710 |
OMIM |
Phagocyte Bactericidal Dysfunction
|
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
|
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:4779762 |
RGD |
Plasmacytoma
|
| S |
LOU/CHan |
Louvain |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Plasminogen Activator Inhibitor-1 Deficiency
|
| G |
Serpine1 |
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 |
|
|
ISS |
12 |
20,931,996 |
20,942,374 |
RGD:7240710 |
OMIM |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
| G |
Runx1 |
runt-related transcription factor 1 |
|
|
ISS |
11 |
32,623,461 |
32,725,404 |
RGD:7240710 |
OMIM |
Platelet Glycoprotein IV Deficiency
|
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:7240710 |
OMIM |
Platelet Storage Pool Deficiency
|
| S |
FHH |
Fawn Hooded Hypertensive |
|
|
IED |
|
|
|
RGD:1300411 |
RGD |
| S |
TM |
Tester Moriyama rat |
|
|
IED |
|
|
|
RGD:1302447 |
RGD |
| S |
TM/Kyo |
tester moriyama rat |
|
|
IED |
|
|
|
RGD:1302447 |
RGD |
Polycythemia
|
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:1600800 |
RGD |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:1600891 |
RGD |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:7240710 |
OMIM |
| G |
Vhl |
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
|
|
ISS |
4 |
149,529,396 |
149,536,289 |
RGD:1580368 |
RGD |
Polycythemia Vera
|
| G |
Hba1 |
hemoglobin, alpha 1 |
|
|
ISS |
10 |
15,584,360 |
15,585,215 |
RGD:7240710 |
OMIM |
| G |
Hbb |
hemoglobin, beta |
|
|
ISS |
1 |
161,618,782 |
161,620,193 |
RGD:7240710 |
OMIM |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:1627655 |
RGD |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:7240710 |
OMIM |
Polycythemia, primary familial and congenital
|
| G |
Epor |
erythropoietin receptor |
|
|
ISS |
8 |
21,061,310 |
21,065,886 |
RGD:7240710 |
OMIM |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:7240710 |
OMIM |
| G |
Sh2b3 |
SH2B adaptor protein 3 |
|
|
ISS |
12 |
35,954,679 |
35,958,446 |
RGD:7240710 |
OMIM |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
|
| G |
Runx1 |
runt-related transcription factor 1 |
|
Onset |
ISS |
11 |
32,623,461 |
32,725,404 |
RGD:6482828 |
RGD |
Precursor Cell Lymphoblastic Leukemia-Lymphoma
|
| G |
Cast |
calpastatin |
|
|
ISS |
2 |
1,495,048 |
1,608,477 |
RGD:5509822 |
RGD |
| G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
Severity |
ISS |
8 |
60,610,835 |
60,645,877 |
RGD:734840 |
RGD |
| G |
Hoxd4 |
homeo box D4 |
|
|
ISS |
3 |
57,326,880 |
57,343,942 |
RGD:7240710 |
OMIM |
| G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
|
|
ISS |
15 |
107,228,796 |
107,281,296 |
RGD:2317244 |
RGD |
Prekallikrein Deficiency
|
| G |
Klkb1 |
kallikrein B, plasma 1 |
|
|
ISS |
16 |
50,248,935 |
50,272,279 |
RGD:7240710 |
OMIM |
Primary Myelofibrosis
|
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:1627655 |
RGD |
| G |
Jak2 |
Janus kinase 2 |
|
|
ISS |
1 |
232,915,995 |
232,974,763 |
RGD:7240710 |
OMIM |
| G |
Mpl |
myeloproliferative leukemia virus oncogene |
|
|
ISS |
5 |
138,921,281 |
138,931,990 |
RGD:7240710 |
OMIM |
| G |
Sh2b3 |
SH2B adaptor protein 3 |
|
|
ISS |
12 |
35,954,679 |
35,958,446 |
RGD:7240710 |
OMIM |
Protein C Deficiency
|
| G |
Pc |
pyruvate carboxylase |
|
|
ISS |
1 |
207,112,853 |
207,212,737 |
RGD:7240710 |
OMIM |
| G |
Proc |
protein C |
|
|
ISS |
18 |
24,563,368 |
24,573,715 |
RGD:1578392 |
RGD |
| G |
Proc |
protein C |
|
|
ISS |
18 |
24,563,368 |
24,573,715 |
RGD:7240710 |
OMIM |
Protein S Deficiency
|
| G |
Pros1 |
protein S (alpha) |
|
|
ISS |
|
|
|
RGD:1599209 |
RGD |
| G |
Pros1 |
protein S (alpha) |
|
|
ISS |
|
|
|
RGD:1578677 |
RGD |
PROTHROMBIN DEFICIENCY, CONGENITAL
|
| G |
F2 |
coagulation factor II |
|
|
ISS |
3 |
76,005,318 |
76,018,603 |
RGD:7240710 |
OMIM |
Pseudoxanthoma Elasticum
|
| G |
Abcc6 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 6 |
|
Susceptibility |
ISS |
1 |
96,448,588 |
96,524,655 |
RGD:737772 |
RGD |
| G |
Abcc6 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 6 |
|
|
ISS |
1 |
96,448,588 |
96,524,655 |
RGD:737772 |
RGD |
| G |
Abcc6 |
ATP-binding cassette, subfamily C (CFTR/MRP), member 6 |
|
|
ISS |
1 |
96,448,588 |
96,524,655 |
RGD:7240710 |
OMIM |
| G |
Xylt1 |
xylosyltransferase 1 |
|
|
ISS |
1 |
175,673,299 |
175,802,134 |
RGD:7240710 |
OMIM |
| G |
Xylt2 |
xylosyltransferase II |
|
|
ISS |
10 |
83,297,806 |
83,311,288 |
RGD:7240710 |
OMIM |
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
|
| G |
Ggcx |
gamma-glutamyl carboxylase |
|
|
ISS |
4 |
105,719,323 |
105,735,037 |
RGD:7240710 |
OMIM |
Pulmonary Eosinophilia
|
| G |
Adam8 |
ADAM metallopeptidase domain 8 |
|
|
ISS |
1 |
199,780,772 |
199,791,855 |
RGD:5128874 |
RGD |
| G |
Ccl1 |
chemokine (C-C motif) ligand 1 |
|
|
ISS |
10 |
70,380,498 |
70,383,276 |
RGD:4891412 |
RGD |
| G |
Ccl11 |
chemokine (C-C motif) ligand 11 |
|
|
ISS |
10 |
70,279,161 |
70,283,762 |
RGD:4145437 |
RGD |
| G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
|
ISS |
19 |
10,641,376 |
10,642,827 |
RGD:4145602 |
RGD |
| G |
Ccr3 |
chemokine (C-C motif) receptor 3 |
|
|
ISS |
8 |
128,759,943 |
128,769,341 |
RGD:4145617 |
RGD |
| G |
Cd44 |
Cd44 molecule |
|
|
ISS |
3 |
88,022,962 |
88,110,352 |
RGD:4145437 |
RGD |
| G |
Il10 |
interleukin 10 |
|
|
ISS |
13 |
43,953,900 |
43,957,766 |
RGD:4140455 |
RGD |
| G |
Il5 |
interleukin 5 |
|
|
ISS |
10 |
39,177,786 |
39,180,657 |
RGD:4890961 |
RGD |
| G |
Il5 |
interleukin 5 |
|
|
ISS |
10 |
39,177,786 |
39,180,657 |
RGD:4890956 |
RGD |
| G |
Il5 |
interleukin 5 |
|
|
ISS |
10 |
39,177,786 |
39,180,657 |
RGD:4890941 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:4891506 |
RGD |
| G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
|
|
ISS |
4 |
6,158,847 |
6,179,441 |
RGD:4892061 |
RGD |
| G |
Scgb1a1 |
secretoglobin, family 1A, member 1 (uteroglobin) |
|
|
ISS |
1 |
211,758,103 |
211,761,651 |
RGD:5144148 |
RGD |
Purpura
|
| G |
RT1-Ba |
RT1 class II, locus Ba |
|
|
ISS |
20 |
4,697,971 |
4,702,564 |
RGD:5147830 |
RGD |
Purpura, Thrombocytopenic
|
| G |
Itga2b |
integrin, alpha 2B |
|
|
ISS |
10 |
91,557,086 |
91,574,194 |
RGD:2316362 |
RGD |
| G |
Itgb3 |
integrin, beta 3 |
|
|
ISS |
|
|
|
RGD:2316362 |
RGD |
| G |
Vwf |
von Willebrand factor |
|
|
ISS |
4 |
161,723,415 |
161,854,766 |
RGD:1580644 |
RGD |
Purpura, Thrombocytopenic, Idiopathic
|
| G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
|
|
ISS |
2 |
199,083,186 |
199,144,309 |
RGD:6484673 |
RGD |
Purpura, Thrombotic Thrombocytopenic
|
| G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
Susceptibility |
ISS |
3 |
5,868,906 |
5,908,061 |
RGD:1598737 |
RGD |
Pyropoikilocytosis, Hereditary
|
| G |
Spta1 |
spectrin, alpha, erythrocytic 1 (elliptocytosis 2) |
|
|
ISS |
13 |
89,951,924 |
90,028,592 |
RGD:7240710 |
OMIM |
Pyruvate Kinase Deficiency of Red Cells
|
| G |
Pklr |
pyruvate kinase, liver and RBC |
|
|
ISS |
2 |
181,214,853 |
181,223,505 |
RGD:7240710 |
OMIM |
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
| G |
Hoxa11 |
homeobox A11 |
|
|
ISS |
4 |
80,542,417 |
80,546,079 |
RGD:7240710 |
OMIM |
Renal Tubular Acidosis, Distal, With Hemolytic Anemia
|
| G |
Slc4a1 |
solute carrier family 4 (anion exchanger), member 1 |
|
|
ISS |
10 |
91,454,824 |
91,471,072 |
RGD:7240710 |
OMIM |
Reticular dysgenesis
|
| G |
Ak2 |
adenylate kinase 2 |
|
|
ISS |
5 |
148,156,751 |
148,176,195 |
RGD:7240710 |
OMIM |
Reticuloendotheliosis, familial, with eosinophilia
|
| G |
Dclre1c |
DNA cross-link repair 1C |
|
|
ISS |
17 |
85,896,581 |
85,928,644 |
RGD:7240710 |
OMIM |
| G |
Rag1 |
recombination activating gene 1 |
|
|
ISS |
3 |
86,780,782 |
86,791,878 |
RGD:7240710 |
OMIM |
| G |
Rag2 |
recombination activating gene 2 |
|
|
ISS |
3 |
86,764,810 |
86,773,438 |
RGD:7240710 |
OMIM |
Rh-Null, Regulator Type
|
| G |
Rhag |
Rh-associated glycoprotein |
|
|
ISS |
9 |
15,940,864 |
15,968,319 |
RGD:7240710 |
OMIM |
Sarcoidosis
|
| G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
|
|
IEA |
10 |
95,361,338 |
95,381,455 |
RGD:1331525 |
RGD |
| G |
Agtr1a |
angiotensin II receptor, type 1a |
|
No_Association |
ISS |
17 |
40,629,318 |
40,684,982 |
RGD:5129164 |
RGD |
| G |
Agtr1a |
angiotensin II receptor, type 1a |
|
|
ISS |
17 |
40,629,318 |
40,684,982 |
RGD:5129165 |
RGD |
| G |
Btnl2 |
butyrophilin-like 2 (MHC class II associated) |
|
|
ISS |
20 |
4,613,726 |
4,625,383 |
RGD:7240710 |
OMIM |
| G |
Ccl17 |
chemokine (C-C motif) ligand 17 |
|
|
ISS |
19 |
10,641,376 |
10,642,827 |
RGD:4145494 |
RGD |
| G |
Ccr2 |
chemokine (C-C motif) receptor 2 |
|
|
ISS |
8 |
128,892,784 |
128,893,905 |
RGD:4144898 |
RGD |
| G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
|
ISS |
8 |
128,907,157 |
128,912,272 |
RGD:4892086 |
RGD |
| G |
Cd14 |
CD14 molecule |
|
|
ISS |
18 |
29,374,593 |
29,376,190 |
RGD:4144780 |
RGD |
| G |
Cma1 |
chymase 1, mast cell |
|
|
ISS |
15 |
34,083,202 |
34,084,387 |
RGD:5128561 |
RGD |
| G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
|
ISS |
9 |
59,495,773 |
59,501,300 |
RGD:4891520 |
RGD |
| G |
Hp |
haptoglobin |
|
|
ISS |
19 |
39,443,016 |
39,447,566 |
RGD:5147442 |
RGD |
| G |
Il18 |
interleukin 18 |
|
Disease_progression |
ISS |
8 |
53,936,584 |
53,943,228 |
RGD:4889815 |
RGD |
| G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
|
ISS |
13 |
64,427,288 |
64,432,978 |
RGD:5135507 |
RGD |
| G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
Susceptibility |
ISS |
13 |
64,427,288 |
64,432,978 |
RGD:5135505 |
RGD |
| G |
RT1-Bb |
RT1 class II, locus Bb |
|
Severity |
ISS |
20 |
4,730,559 |
4,736,201 |
RGD:5147648 |
RGD |
| G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
|
ISS |
20 |
4,671,489 |
4,681,058 |
RGD:7240710 |
OMIM |
| G |
Sftpd |
surfactant protein D |
|
|
ISS |
|
|
|
RGD:4143491 |
RGD |
| G |
Slc11a1 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 |
|
|
ISS |
9 |
73,714,692 |
73,725,523 |
RGD:5684925 |
RGD |
Sarcoidosis, Early-Onset
|
| G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
|
ISS |
19 |
19,662,337 |
19,697,341 |
RGD:7240710 |
OMIM |
Sarcoidosis, Pulmonary
|
| G |
Abo |
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) |
|
Severity |
ISS |
3 |
5,730,553 |
5,751,204 |
RGD:5128833 |
RGD |
| G |
Ada |
adenosine deaminase |
|
|
ISS |
3 |
154,636,530 |
154,660,637 |
RGD:5128856 |
RGD |
| G |
Bdnf |
brain-derived neurotrophic factor |
|
|
ISS |
|
|
|
RGD:4891110 |
RGD |
| G |
C3 |
complement component 3 |
|
|
ISS |
|
|
|
RGD:5129502 |
RGD |
| G |
Ccl19 |
chemokine (C-C motif) ligand 19 |
|
|
ISS |
5 |
59,221,738 |
59,223,682 |
RGD:5130912 |
RGD |
| G |
Ccl5 |
chemokine (C-C motif) ligand 5 |
|
|
ISS |
10 |
71,605,791 |
71,610,330 |
RGD:4891436 |
RGD |
| G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
|
ISS |
8 |
128,907,157 |
128,912,272 |
RGD:4892066 |
RGD |
| G |
Ccr5 |
chemokine (C-C motif) receptor 5 |
|
Disease_progression |
ISS |
8 |
128,907,157 |
128,912,272 |
RGD:4892099 |
RGD |
| G |
Ccr7 |
chemokine (C-C motif) receptor 7 |
|
|
ISS |
10 |
87,925,093 |
87,936,325 |
RGD:5130912 |
RGD |
| G |
Cftr |
cystic fibrosis transmembrane conductance regulator |
|
|
ISS |
4 |
43,874,852 |
44,041,870 |
RGD:4139905 |
RGD |
| G |
Chi3l1 |
chitinase 3-like 1 (cartilage glycoprotein-39) |
|
|
ISS |
13 |
47,139,658 |
47,147,591 |
RGD:4892634 |
RGD |
| G |
Crp |
C-reactive protein, pentraxin-related |
|
Severity |
ISS |
13 |
88,702,243 |
88,703,153 |
RGD:5131289 |
RGD |
| G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
|
ISS |
14 |
17,265,986 |
17,268,183 |
RGD:5135438 |
RGD |
| G |
Cxcl10 |
chemokine (C-X-C motif) ligand 10 |
|
|
ISS |
14 |
17,265,986 |
17,268,183 |
RGD:5135492 |
RGD |
| G |
Cxcl11 |
chemokine (C-X-C motif) ligand 11 |
|
|
ISS |
14 |
17,250,648 |
17,253,423 |
RGD:5135438 |
RGD |
| G |
Cxcl5 |
chemokine (C-X-C motif) ligand 5 |
|
Disease_progression |
ISS |
14 |
18,825,357 |
18,826,269 |
RGD:5135244 |
RGD |
| G |
Cxcl9 |
chemokine (C-X-C motif) ligand 9 |
|
|
ISS |
14 |
17,284,085 |
17,288,996 |
RGD:5135438 |
RGD |
| G |
Cxcr3 |
chemokine (C-X-C motif) receptor 3 |
|
|
ISS |
X |
89,794,276 |
89,796,927 |
RGD:5135492 |
RGD |
| G |
Cyba |
cytochrome b-245, alpha polypeptide |
|
No_Association |
ISS |
19 |
52,713,150 |
52,721,609 |
RGD:4780358 |
RGD |
| G |
Defb1 |
defensin beta 1 |
|
|
ISS |
16 |
74,980,054 |
74,995,445 |
RGD:4892262 |
RGD |
| G |
Defb4 |
defensin beta 4 |
|
|
ISS |
16 |
75,442,005 |
75,445,196 |
RGD:4892262 |
RGD |
| G |
Egr1 |
early growth response 1 |
|
|
ISS |
18 |
27,343,919 |
27,346,117 |
RGD:5131899 |
RGD |
| G |
Hmox1 |
heme oxygenase (decycling) 1 |
|
|
ISS |
19 |
13,963,139 |
13,969,960 |
RGD:4145349 |
RGD |
| G |
Il15 |
interleukin 15 |
|
|
ISS |
19 |
27,487,268 |
27,498,973 |
RGD:4990461 |
RGD |
| G |
Il18 |
interleukin 18 |
|
|
ISS |
8 |
53,936,584 |
53,943,228 |
RGD:4889863 |
RGD |
| G |
Il18 |
interleukin 18 |
|
|
ISS |
8 |
53,936,584 |
53,943,228 |
RGD:4889823 |
RGD |
| G |
Il18r1 |
interleukin 18 receptor 1 |
|
Severity |
ISS |
9 |
39,627,915 |
39,659,828 |
RGD:5024944 |
RGD |
| G |
Il1rn |
interleukin 1 receptor antagonist |
|
|
ISS |
3 |
2,607,800 |
2,613,216 |
RGD:4143198 |
RGD |
| G |
Lta |
lymphotoxin alpha (TNF superfamily, member 1) |
|
Susceptibility |
ISS |
20 |
3,657,842 |
3,659,848 |
RGD:4143248 |
RGD |
| G |
Muc1 |
mucin 1, cell surface associated |
|
|
ISS |
2 |
181,399,482 |
181,403,640 |
RGD:5131177 |
RGD |
| G |
Ngf |
nerve growth factor (beta polypeptide) |
|
|
ISS |
2 |
197,621,726 |
197,632,960 |
RGD:4891110 |
RGD |
| G |
Ngf |
nerve growth factor (beta polypeptide) |
|
|
ISS |
2 |
197,621,726 |
197,632,960 |
RGD:5144061 |
RGD |
| G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
Disease_progression |
ISS |
19 |
19,662,337 |
19,697,341 |
RGD:4892066 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:4891449 |
RGD |
| G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
|
ISS |
18 |
32,371,496 |
32,459,145 |
RGD:4892566 |
RGD |
| G |
Ntf3 |
neurotrophin 3 |
|
Disease_progression |
ISS |
4 |
162,435,781 |
162,506,961 |
RGD:5144061 |
RGD |
| G |
Ntf3 |
neurotrophin 3 |
|
|
ISS |
4 |
162,435,781 |
162,506,961 |
RGD:4891110 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:4891110 |
RGD |
| G |
Sftpa1 |
surfactant protein A1 |
|
|
ISS |
16 |
17,570,887 |
17,574,389 |
RGD:4143437 |
RGD |
| G |
Tgfb1 |
transforming growth factor, beta 1 |
|
Severity |
ISS |
1 |
80,894,705 |
80,911,020 |
RGD:4145294 |
RGD |
| G |
Tlr2 |
toll-like receptor 2 |
|
|
ISS |
2 |
175,607,990 |
175,613,992 |
RGD:4145301 |
RGD |
| G |
Tnc |
tenascin C |
|
|
ISS |
|
|
|
RGD:4889595 |
RGD |
| G |
Tnf |
tumor necrosis factor |
|
|
ISS |
20 |
3,661,000 |
3,663,618 |
RGD:4143466 |
RGD |
| G |
Tnf |
tumor necrosis factor |
|
|
ISS |
20 |
3,661,000 |
3,663,618 |
RGD:4143236 |
RGD |
| G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
|
ISS |
5 |
163,666,541 |
163,697,484 |
RGD:5131275 |
RGD |
| G |
Vip |
vasoactive intestinal peptide |
|
|
ISS |
1 |
36,361,513 |
36,369,594 |
RGD:5685623 |
RGD |
Scott Syndrome
|
| G |
Ano6 |
anoctamin 6 |
|
|
ISS |
7 |
134,434,775 |
134,624,126 |
RGD:7240710 |
OMIM |
Scurvy
|
| G |
Gulo |
gulonolactone (L-) oxidase |
|
|
ISS |
15 |
45,410,685 |
45,434,014 |
RGD:7240710 |
OMIM |
| S |
SHR.ODS-Gulood/Shi |
|
|
|
TAS |
|
|
|
RGD:1556471 |
RGD |
Sea-Blue Histiocyte Syndrome
|
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:7240710 |
OMIM |
Sebastian syndrome
|
| |