ONTOLOGY REPORT - ANNOTATIONS
| Term: | Neurodegenerative Diseases |
|
| Accession: | RDO:0001411
|
browse the term
|
| Definition: | Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. |
| Synonyms: | exact_synonym: | Degenerative Diseases, Central Nervous System; Degenerative Diseases, Spinal Cord; Degenerative Neurologic Disease; Degenerative Neurologic Diseases; Degenerative Neurologic Disorder; Degenerative Neurologic Disorders; Nervous System Degenerative Diseases; Neurodegenerative Disease; Neurodegenerative Disorder; Neurodegenerative Disorders; Neurologic Degenerative Condition; Neurologic Degenerative Conditions |
| | primary_id: | MESH:D019636 |
|
|
Neurodegenerative Diseases
|
| G |
A2m |
alpha-2-macroglobulin |
|
|
IED |
4 |
158,103,711 |
158,153,423 |
RGD:704363 |
RGD |
| G |
Adnp |
activity-dependent neuroprotector homeobox |
|
|
ISS |
3 |
159,345,280 |
159,355,067 |
RGD:2312794 |
RGD |
| G |
Aimp1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
|
|
IAGP |
2 |
230,142,679 |
230,166,226 |
RGD:724676 |
RGD |
| G |
Dctn1 |
dynactin 1 |
|
|
ISS |
4 |
117,390,323 |
117,410,119 |
RGD:5539209 |
RGD |
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:5509863 |
RGD |
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:5509840 |
RGD |
| G |
Ftl |
ferritin, light polypeptide |
|
|
ISS |
1 |
95,929,248 |
95,931,092 |
RGD:5509863 |
RGD |
| G |
Fus |
fused in sarcoma |
|
|
ISS |
1 |
187,250,871 |
187,264,742 |
RGD:5509901 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508426 |
RGD |
| G |
Gc |
group specific component |
|
|
ISS |
14 |
20,166,243 |
20,197,060 |
RGD:5509872 |
RGD |
| G |
Hspa4 |
heat shock protein 4 |
|
|
ISS |
10 |
38,705,629 |
38,749,058 |
RGD:6218995 |
RGD |
| G |
Ireb2 |
iron responsive element binding protein 2 |
|
|
ISS |
8 |
58,433,218 |
58,477,305 |
RGD:6893298 |
RGD |
| G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
Onset |
ISS |
4 |
143,705,360 |
144,030,051 |
RGD:6480870 |
RGD |
| G |
Nr1h2 |
nuclear receptor subfamily 1, group H, member 2 |
|
|
ISS |
1 |
95,027,197 |
95,032,516 |
RGD:6482198 |
RGD |
| Q |
Neudeg1 |
Neurodegradation QTL 1 |
|
|
IAGP |
8 |
31,508,524 |
98,947,320 |
RGD:1358788 |
RGD |
| Q |
Neudeg2 |
Neurodegradation QTL 2 |
|
|
IAGP |
5 |
25,602,274 |
45,822,846 |
RGD:1358788 |
RGD |
| S |
DA.PVG.1AV1-(D8Rat146-D8Got145) |
|
|
|
IAGP |
8 |
73,105,403 |
91,329,867 |
RGD:2317162 |
RGD |
| S |
DA.PVG.1AV1-(D8Rat24-D8Got145) |
|
|
|
IAGP |
8 |
82,246,890 |
91,329,867 |
RGD:2317162 |
RGD |
| S |
DA.PVG.1AV1-(D8Rat41-D8Rat24) |
|
|
|
IAGP |
8 |
50,354,908 |
82,247,243 |
RGD:2317162 |
RGD |
Adrenoleukodystrophy
|
| G |
Abcd1 |
ATP-binding cassette, subfamily D (ALD), member 1 |
|
Susceptibility |
ISS |
X |
159,614,569 |
159,635,963 |
RGD:1598655 |
RGD |
| G |
Abcd1 |
ATP-binding cassette, subfamily D (ALD), member 1 |
|
|
ISS |
X |
159,614,569 |
159,635,963 |
RGD:7240710 |
OMIM |
| G |
Amn |
amnion associated transmembrane protein |
|
|
ISS |
6 |
136,031,478 |
136,038,919 |
RGD:7240710 |
OMIM |
Alexander Disease
|
| G |
Gfap |
glial fibrillary acidic protein |
|
|
ISS |
10 |
92,059,881 |
92,068,555 |
RGD:7240710 |
OMIM |
Allan-Herndon-Dudley syndrome
|
| G |
Slc16a2 |
solute carrier family 16, member 2 (thyroid hormone transporter) |
|
|
ISS |
X |
91,700,554 |
91,825,108 |
RGD:7240710 |
OMIM |
Alstrom Syndrome
|
| G |
Alms1 |
Alstrom syndrome 1 |
|
|
ISS |
4 |
119,846,037 |
119,946,085 |
RGD:7240710 |
OMIM |
Alzheimer Disease
|
| G |
A2m |
alpha-2-macroglobulin |
|
|
ISS |
4 |
158,103,711 |
158,153,423 |
RGD:1302534 |
RGD |
| G |
A2m |
alpha-2-macroglobulin |
|
|
ISS |
4 |
158,103,711 |
158,153,423 |
RGD:1300322 |
RGD |
| G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
|
|
IEA |
10 |
95,361,338 |
95,381,455 |
RGD:1331525 |
RGD |
| G |
Ache |
acetylcholinesterase |
|
No_Association |
ISS |
|
|
|
RGD:5509843 |
RGD |
| G |
Ache |
acetylcholinesterase |
|
|
ISS |
|
|
|
RGD:5509844 |
RGD |
| G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
|
ISS |
11 |
79,908,291 |
79,911,065 |
RGD:5686377 |
RGD |
| G |
Ager |
advanced glycosylation end product-specific receptor |
|
|
ISS |
20 |
4,250,613 |
4,253,540 |
RGD:6784502 |
RGD |
| G |
Agt |
angiotensinogen (serpin peptidase inhibitor, clade A, member 8) |
|
|
ISS |
19 |
54,738,556 |
54,750,349 |
RGD:5129180 |
RGD |
| G |
Aif1 |
allograft inflammatory factor 1 |
|
|
ISS |
20 |
3,714,428 |
3,716,327 |
RGD:2313023 |
RGD |
| G |
Akt1 |
v-akt murine thymoma viral oncogene homolog 1 |
|
|
ISS |
6 |
137,640,482 |
137,657,552 |
RGD:5509085 |
RGD |
| G |
Aldh2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
|
Onset |
ISS |
12 |
36,081,778 |
36,116,445 |
RGD:1599042 |
RGD |
| G |
Alox15 |
arachidonate 15-lipoxygenase |
|
|
ISS |
10 |
57,185,939 |
57,194,388 |
RGD:5509620 |
RGD |
| G |
Anxa5 |
annexin A5 |
|
|
ISS |
2 |
122,949,210 |
122,979,757 |
RGD:7242030 |
RGD |
| G |
Aplp2 |
amyloid beta (A4) precursor-like protein 2 |
|
|
IED |
|
|
|
RGD:734582 |
RGD |
| G |
Apoa1 |
apolipoprotein A-I |
|
Resistance |
ISS |
|
|
|
RGD:5508212 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685661 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685681 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
No_Association |
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685682 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685638 |
RGD |
| G |
Apoc1 |
apolipoprotein C-I |
|
|
ISS |
1 |
78,996,677 |
78,999,960 |
RGD:1578472 |
RGD |
| G |
Apod |
apolipoprotein D |
|
|
ISS |
|
|
|
RGD:2311209 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
ISS |
1 |
79,003,634 |
79,006,387 |
RGD:6903910 |
RGD |
| G |
Apoe |
apolipoprotein E |
|
|
IEP |
1 |
79,003,634 |
79,006,387 |
RGD:6903910 |
RGD |
| G |
Ass1 |
argininosuccinate synthase 1 |
|
|
ISS |
3 |
10,578,717 |
10,622,332 |
RGD:4139898 |
RGD |
| G |
Bace1 |
beta-site APP cleaving enzyme 1 |
|
|
ISS |
8 |
48,817,824 |
48,839,681 |
RGD:1358439 |
RGD |
| G |
Bche |
butyrylcholinesterase |
|
Severity |
ISS |
2 |
164,329,613 |
164,427,994 |
RGD:5688056 |
RGD |
| G |
Bdnf |
brain-derived neurotrophic factor |
|
|
ISS |
|
|
|
RGD:5508228 |
RGD |
| G |
Bdnf |
brain-derived neurotrophic factor |
|
|
IPM |
|
|
|
RGD:4891131 |
RGD |
| G |
Bdnf |
brain-derived neurotrophic factor |
|
|
IEA |
|
|
|
RGD:1331525 |
RGD |
| G |
C1qb |
complement component 1, q subcomponent, B chain |
|
|
ISS |
5 |
155,647,524 |
155,653,074 |
RGD:1599518 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
ISS |
16 |
48,944,226 |
48,962,420 |
RGD:734692 |
RGD |
| G |
Cast |
calpastatin |
|
|
ISS |
2 |
1,495,048 |
1,608,477 |
RGD:5509809 |
RGD |
| G |
Ccng1 |
cyclin G1 |
|
|
ISS |
10 |
25,776,380 |
25,782,754 |
RGD:2316025 |
RGD |
| G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
|
Severity |
ISS |
8 |
128,693,658 |
128,699,213 |
RGD:5688166 |
RGD |
| G |
Cd36 |
CD36 molecule (thrombospondin receptor) |
|
|
ISS |
4 |
13,471,878 |
13,525,620 |
RGD:6893531 |
RGD |
| G |
Cd40 |
CD40 molecule, TNF receptor superfamily member 5 |
|
|
ISS |
3 |
156,092,602 |
156,107,427 |
RGD:5490302 |
RGD |
| G |
Cdc42 |
cell division cycle 42 (GTP binding protein) |
|
|
ISS |
5 |
156,106,123 |
156,143,040 |
RGD:5688277 |
RGD |
| G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
|
ISS |
|
|
|
RGD:1600861 |
RGD |
| G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
|
No_Association |
ISS |
12 |
17,164,384 |
17,204,589 |
RGD:5685603 |
RGD |
| G |
Drd1 |
dopamine receptor D1 |
|
|
ISS |
17 |
16,655,926 |
16,658,161 |
RGD:5686412 |
RGD |
| G |
Drd2 |
dopamine receptor D2 |
|
|
ISS |
8 |
52,641,160 |
52,707,749 |
RGD:5686416 |
RGD |
| G |
Drd3 |
dopamine receptor D3 |
|
|
ISS |
11 |
58,446,901 |
58,520,589 |
RGD:5686412 |
RGD |
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:5686412 |
RGD |
| G |
Egr1 |
early growth response 1 |
|
|
ISS |
18 |
27,343,919 |
27,346,117 |
RGD:5131647 |
RGD |
| G |
Epha4 |
Eph receptor A4 |
|
|
ISS |
9 |
76,676,778 |
76,820,752 |
RGD:6218956 |
RGD |
| G |
Epha4 |
Eph receptor A4 |
|
|
ISS |
9 |
76,676,778 |
76,820,752 |
RGD:6218956 |
RGD |
| G |
Ercc2 |
excision repair cross-complementing rodent repair deficiency, complementation group 2 |
|
|
ISS |
|
|
|
RGD:5688738 |
RGD |
| G |
Esr1 |
estrogen receptor 1 |
|
|
ISS |
1 |
35,523,680 |
35,759,891 |
RGD:1358612 |
RGD |
| G |
Esr2 |
estrogen receptor 2 (ER beta) |
|
Susceptibility |
ISS |
6 |
98,691,167 |
98,775,299 |
RGD:5508768 |
RGD |
| G |
Faslg |
Fas ligand (TNF superfamily, member 6) |
|
|
ISS |
13 |
77,472,950 |
77,480,210 |
RGD:1358615 |
RGD |
| G |
Fyn |
FYN oncogene related to SRC, FGR, YES |
|
|
ISS |
20 |
43,501,853 |
43,695,567 |
RGD:1358602 |
RGD |
| G |
Fyn |
FYN oncogene related to SRC, FGR, YES |
|
|
ISS |
20 |
43,501,853 |
43,695,567 |
RGD:1358600 |
RGD |
| G |
Gal |
galanin/GMAP prepropeptide |
|
|
ISS |
1 |
205,936,352 |
205,941,215 |
RGD:704404 |
RGD |
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:5688777 |
RGD |
| G |
Glud1 |
glutamate dehydrogenase 1 |
|
|
ISS |
16 |
9,965,718 |
9,999,254 |
RGD:6484555 |
RGD |
| G |
Glul |
glutamate-ammonia ligase |
|
|
ISS |
|
|
|
RGD:2301427 |
RGD |
| G |
Glul |
glutamate-ammonia ligase |
|
|
ISS |
|
|
|
RGD:2301429 |
RGD |
| G |
Grn |
granulin |
|
|
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509600 |
RGD |
| G |
Grn |
granulin |
|
Onset |
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509601 |
RGD |
| G |
Grn |
granulin |
|
|
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509616 |
RGD |
| G |
Grn |
granulin |
|
severity |
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509606 |
RGD |
| G |
Gstm3 |
glutathione S-transferase mu 3 |
|
|
ISS |
2 |
203,532,363 |
203,537,135 |
RGD:5688729 |
RGD |
| G |
Gstm3 |
glutathione S-transferase mu 3 |
|
|
ISS |
2 |
203,532,363 |
203,537,135 |
RGD:5688745 |
RGD |
| G |
Gsto1 |
glutathione S-transferase omega 1 |
|
No_Association |
ISS |
1 |
253,228,547 |
253,238,531 |
RGD:5490514 |
RGD |
| G |
Gsto2 |
glutathione S-transferase omega 2 |
|
No_Association |
ISS |
1 |
253,239,392 |
253,275,110 |
RGD:5490514 |
RGD |
| G |
Gstp1 |
glutathione S-transferase pi 1 |
|
Onset |
ISS |
1 |
206,627,398 |
206,629,866 |
RGD:5490271 |
RGD |
| G |
Gstt1 |
glutathione S-transferase theta 1 |
|
Onset |
ISS |
20 |
13,604,355 |
13,621,456 |
RGD:5490271 |
RGD |
| G |
Hfe |
hemochromatosis |
|
|
ISS |
17 |
48,469,927 |
48,478,502 |
RGD:1358657 |
RGD |
| G |
Hmox1 |
heme oxygenase (decycling) 1 |
|
|
ISS |
19 |
13,963,139 |
13,969,960 |
RGD:1358658 |
RGD |
| G |
Hnmt |
histamine N-methyltransferase |
|
No_Association |
ISS |
3 |
2,057,938 |
2,089,955 |
RGD:5509771 |
RGD |
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:704404 |
RGD |
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:1358426 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688722 |
RGD |
| G |
Ide |
insulin degrading enzyme |
|
No_Association |
ISS |
1 |
241,547,869 |
241,646,052 |
RGD:1626696 |
RGD |
| G |
Ide |
insulin degrading enzyme |
|
|
ISS |
1 |
241,547,869 |
241,646,052 |
RGD:737718 |
RGD |
| G |
Igf1r |
insulin-like growth factor 1 receptor |
|
|
ISS |
1 |
122,704,976 |
122,990,007 |
RGD:5686420 |
RGD |
| G |
Igf2 |
insulin-like growth factor 2 |
|
|
IEP |
1 |
202,906,624 |
202,915,231 |
RGD:5509963 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
Onset |
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:1626633 |
RGD |
| G |
Ins2 |
insulin 2 |
|
|
IEP |
1 |
202,935,548 |
202,936,379 |
RGD:2298713 |
RGD |
| G |
Klc1 |
kinesin light chain 1 |
|
Susceptibility |
ISS |
6 |
136,553,146 |
136,586,393 |
RGD:5684007 |
RGD |
| G |
Klc1 |
kinesin light chain 1 |
|
Susceptibility |
ISS |
6 |
136,553,146 |
136,586,393 |
RGD:5683908 |
RGD |
| G |
Klk6 |
kallikrein related-peptidase 6 |
|
|
ISS |
1 |
94,254,350 |
94,261,500 |
RGD:1358599 |
RGD |
| G |
Klk6 |
kallikrein related-peptidase 6 |
|
|
ISS |
1 |
94,254,350 |
94,261,500 |
RGD:1358604 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
No_Association |
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490241 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490239 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
No_Association |
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490243 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490242 |
RGD |
| G |
Ldlr |
low density lipoprotein receptor |
|
|
ISS |
8 |
20,824,040 |
20,846,920 |
RGD:5490244 |
RGD |
| G |
Lrp8 |
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor |
|
|
ISS |
5 |
128,905,612 |
128,975,702 |
RGD:6483064 |
RGD |
| G |
Lrp8 |
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor |
|
No_Association |
ISS |
5 |
128,905,612 |
128,975,702 |
RGD:6483065 |
RGD |
| G |
Mapt |
microtubule-associated protein tau |
|
|
ISS |
10 |
93,411,098 |
93,508,762 |
RGD:1302530 |
RGD |
| G |
Mbl2 |
mannose-binding lectin (protein C) 2 |
|
|
ISS |
1 |
233,978,931 |
233,983,824 |
RGD:4889155 |
RGD |
| G |
Mme |
membrane metallo-endopeptidase |
|
No_Association |
ISS |
2 |
153,031,724 |
153,114,515 |
RGD:1600813 |
RGD |
| G |
Mre11a |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
|
|
ISS |
8 |
11,588,409 |
11,632,483 |
RGD:2317734 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5490287 |
RGD |
| G |
Mt-nd2 |
mitochondrially encoded NADH dehydrogenase 2 |
|
|
ISS |
MT |
3,904 |
4,942 |
RGD:5507834 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5508713 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
ISS |
19 |
11,284,554 |
11,286,402 |
RGD:6480619 |
RGD |
| G |
Ngfr |
nerve growth factor receptor |
|
|
ISS |
10 |
84,262,804 |
84,281,006 |
RGD:5508225 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:5508721 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
IED |
10 |
65,036,884 |
65,072,453 |
RGD:4891161 |
RGD |
| G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
|
|
IPM |
4 |
6,158,847 |
6,179,441 |
RGD:2292144 |
RGD |
| G |
Nos3 |
nitric oxide synthase 3, endothelial cell |
|
Onset |
ISS |
4 |
6,158,847 |
6,179,441 |
RGD:1358752 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5508228 |
RGD |
| G |
Ntrk2 |
neurotrophic tyrosine kinase, receptor, type 2 |
|
|
ISS |
17 |
11,494,463 |
11,811,654 |
RGD:5684548 |
RGD |
| G |
Pak1 |
p21 protein (Cdc42/Rac)-activated kinase 1 |
|
|
ISS |
1 |
155,057,622 |
155,174,714 |
RGD:2299169 |
RGD |
| G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
|
ISS |
13 |
96,309,670 |
96,341,486 |
RGD:5510011 |
RGD |
| G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 (soluble) |
|
|
ISS |
3 |
164,012,410 |
164,018,359 |
RGD:2311642 |
RGD |
| G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
|
ISS |
X |
26,614,585 |
26,618,027 |
RGD:1642360 |
RGD |
| G |
Pebp1 |
phosphatidylethanolamine binding protein 1 |
|
Onset |
ISS |
12 |
40,491,393 |
40,495,593 |
RGD:2302864 |
RGD |
| G |
Pebp1 |
phosphatidylethanolamine binding protein 1 |
|
|
ISS |
12 |
40,491,393 |
40,495,593 |
RGD:2302735 |
RGD |
| G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
|
ISS |
6 |
50,441,892 |
50,476,931 |
RGD:6482689 |
RGD |
| G |
Pik3r1 |
phosphoinositide-3-kinase, regulatory subunit 1 (alpha) |
|
Onset |
ISS |
2 |
32,602,673 |
32,675,350 |
RGD:1625215 |
RGD |
| G |
Plau |
plasminogen activator, urokinase |
|
|
ISS |
15 |
3,680,072 |
3,686,232 |
RGD:6484115 |
RGD |
| G |
Pnmt |
phenylethanolamine-N-methyltransferase |
|
Onset |
ISS |
|
|
|
RGD:5130171 |
RGD |
| G |
Pon1 |
paraoxonase 1 |
|
|
ISS |
4 |
29,936,314 |
29,964,821 |
RGD:5509926 |
RGD |
| G |
Pon2 |
paraoxonase 2 |
|
|
ISS |
4 |
30,033,229 |
30,068,643 |
RGD:5509926 |
RGD |
| G |
Pon3 |
paraoxonase 3 |
|
|
ISS |
4 |
30,000,505 |
30,027,203 |
RGD:5509926 |
RGD |
| G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
|
ISS |
7 |
123,729,774 |
123,807,090 |
RGD:5561899 |
RGD |
| G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
No_Association |
ISS |
7 |
123,729,774 |
123,807,090 |
RGD:5561928 |
RGD |
| G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
No_Association |
ISS |
4 |
151,492,220 |
151,617,331 |
RGD:2301852 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
IED |
14 |
64,278,115 |
64,370,912 |
RGD:7242180 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
Disease_progression |
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7242017 |
RGD |
| G |
Psen1 |
presenilin 1 |
|
|
ISS |
6 |
107,737,543 |
107,776,357 |
RGD:1302519 |
RGD |
| G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
|
ISS |
3 |
15,343,832 |
15,365,412 |
RGD:5688249 |
RGD |
| G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
|
ISS |
13 |
64,427,288 |
64,432,978 |
RGD:5688252 |
RGD |
| G |
Pvrl2 |
poliovirus receptor-related 2 |
|
|
ISS |
1 |
79,021,831 |
79,059,686 |
RGD:6484658 |
RGD |
| G |
Reln |
reelin |
|
|
ISS |
4 |
8,150,873 |
8,609,141 |
RGD:729771 |
RGD |
| G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
|
ISS |
20 |
4,671,489 |
4,681,058 |
RGD:5147563 |
RGD |
| G |
Sell |
selectin L |
|
Severity |
ISS |
13 |
79,827,342 |
79,845,296 |
RGD:5685677 |
RGD |
| G |
Selp |
selectin P |
|
Severity |
ISS |
13 |
79,886,614 |
79,922,180 |
RGD:5685677 |
RGD |
| G |
Serpine2 |
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 |
|
|
ISS |
9 |
79,091,414 |
79,166,330 |
RGD:2317937 |
RGD |
| G |
Slc18a3 |
solute carrier family 18 (vesicular acetylcholine), member 3 |
|
|
ISS |
16 |
7,969,738 |
7,972,599 |
RGD:5686430 |
RGD |
| G |
Slc18a3 |
solute carrier family 18 (vesicular acetylcholine), member 3 |
|
|
ISS |
16 |
7,969,738 |
7,972,599 |
RGD:5686673 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6478792 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:1302528 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6478792 |
RGD |
| G |
Sod2 |
superoxide dismutase 2, mitochondrial |
|
|
ISS |
1 |
41,862,997 |
41,870,327 |
RGD:1579972 |
RGD |
| G |
Tbp |
TATA box binding protein |
|
|
ISS |
1 |
54,390,756 |
54,407,563 |
RGD:5684338 |
RGD |
| G |
Thbd |
thrombomodulin |
|
|
ISS |
3 |
137,158,955 |
137,162,607 |
RGD:5685018 |
RGD |
| G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
|
ISS |
10 |
108,310,473 |
108,358,821 |
RGD:1580169 |
RGD |
| G |
Tnf |
tumor necrosis factor |
|
|
ISS |
20 |
3,661,000 |
3,663,618 |
RGD:1580320 |
RGD |
| G |
Tp53 |
tumor protein p53 |
|
|
ISS |
10 |
56,399,721 |
56,411,150 |
RGD:2290573 |
RGD |
| G |
Tsc2 |
tuberous sclerosis 2 |
|
|
ISS |
10 |
13,848,210 |
13,883,189 |
RGD:1580518 |
RGD |
| G |
Vim |
vimentin |
|
|
ISS |
17 |
87,847,280 |
87,855,763 |
RGD:6480519 |
RGD |
| G |
Vldlr |
very low density lipoprotein receptor |
|
|
ISS |
1 |
230,666,736 |
230,697,748 |
RGD:737739 |
RGD |
| G |
Wt1 |
Wilms tumor 1 |
|
|
ISS |
3 |
90,529,704 |
90,577,280 |
RGD:1580623 |
RGD |
| S |
SD-Tg(UbC-APPswe)6590 |
|
|
Model |
IED |
|
|
|
RGD:2290385 |
RGD |
| S |
SHR-Tg(Thy1-MAPT)318 |
|
|
Model |
IAGP |
|
|
|
RGD:2290296 |
RGD |
| S |
SHR-Tg(Thy1-MAPT)72 |
|
|
Model |
IAGP |
|
|
|
RGD:2290296 |
RGD |
Amyloid Neuropathies, Familial
|
| G |
Ttr |
transthyretin |
|
|
IEA |
18 |
12,406,571 |
12,413,680 |
RGD:1331525 |
RGD |
Amyloidosis, Hereditary, Transthyretin-Related
|
| G |
Ttr |
transthyretin |
|
|
ISS |
18 |
12,406,571 |
12,413,680 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis
|
| G |
Akt1 |
v-akt murine thymoma viral oncogene homolog 1 |
|
|
ISS |
6 |
137,640,482 |
137,657,552 |
RGD:5509081 |
RGD |
| G |
Als2 |
amyotrophic lateral sclerosis 2 (juvenile) |
|
Susceptibility |
ISS |
9 |
57,741,679 |
57,812,652 |
RGD:1599080 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6892718 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6892713 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6892707 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
No_Association |
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6892716 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:7240710 |
OMIM |
| G |
Aox1 |
aldehyde oxidase 1 |
|
|
ISS |
9 |
56,693,698 |
56,774,115 |
RGD:734575 |
RGD |
| G |
Aqp4 |
aquaporin 4 |
|
|
IEP |
18 |
6,626,313 |
6,642,766 |
RGD:5490153 |
RGD |
| G |
C3 |
complement component 3 |
|
|
IEP |
|
|
|
RGD:5130169 |
RGD |
| G |
C5ar1 |
complement component 5a receptor 1 |
|
|
IPM |
|
|
|
RGD:5130169 |
RGD |
| G |
Calca |
calcitonin-related polypeptide alpha |
|
|
ISS |
1 |
172,686,168 |
172,691,061 |
RGD:5684010 |
RGD |
| G |
Casp12 |
caspase 12 |
|
|
IEP |
8 |
2,082,933 |
2,110,511 |
RGD:2311466 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
IEP |
16 |
48,944,226 |
48,962,420 |
RGD:2311466 |
RGD |
| G |
Casp9 |
caspase 9, apoptosis-related cysteine peptidase |
|
|
IEP |
5 |
160,704,234 |
160,721,796 |
RGD:2311466 |
RGD |
| G |
Cd40lg |
CD40 ligand |
|
|
ISS |
X |
141,925,019 |
141,937,183 |
RGD:5490547 |
RGD |
| G |
Cdk5 |
cyclin-dependent kinase 5 |
|
|
ISS |
4 |
6,119,704 |
6,124,186 |
RGD:734741 |
RGD |
| G |
Chmp2b |
charged multivesicular body protein 2B |
|
|
ISS |
11 |
2,984,295 |
3,090,399 |
RGD:7240710 |
OMIM |
| G |
Chmp2b |
charged multivesicular body protein 2B |
|
|
ISS |
11 |
2,984,295 |
3,090,399 |
RGD:5688711 |
RGD |
| G |
Cntf |
ciliary neurotrophic factor |
|
|
ISS |
1 |
215,842,668 |
215,844,691 |
RGD:734796 |
RGD |
| G |
Ctsh |
cathepsin H |
|
|
ISS |
8 |
94,971,689 |
94,990,434 |
RGD:5686391 |
RGD |
| G |
Dpp6 |
dipeptidylpeptidase 6 |
|
No_Association |
ISS |
4 |
2,853,479 |
3,565,666 |
RGD:5687181 |
RGD |
| G |
Dpp6 |
dipeptidylpeptidase 6 |
|
|
ISS |
4 |
2,853,479 |
3,565,666 |
RGD:5687188 |
RGD |
| G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
|
ISS |
|
|
|
RGD:2301741 |
RGD |
| G |
Fig4 |
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
|
|
ISS |
20 |
45,123,352 |
45,248,795 |
RGD:7240710 |
OMIM |
| G |
Folh1 |
folate hydrolase 1 |
|
|
ISS |
1 |
142,936,379 |
143,010,358 |
RGD:737756 |
RGD |
| G |
Fus |
fused in sarcoma |
|
|
ISS |
1 |
187,250,871 |
187,264,742 |
RGD:5509900 |
RGD |
| G |
Fus |
fused in sarcoma |
|
|
ISS |
1 |
187,250,871 |
187,264,742 |
RGD:7240710 |
OMIM |
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:6218978 |
RGD |
| G |
Grn |
granulin |
|
Onset |
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509619 |
RGD |
| G |
Grn |
granulin |
|
Disease_progression |
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509593 |
RGD |
| G |
Grn |
granulin |
|
Disease_progression |
ISS |
10 |
91,536,135 |
91,542,239 |
RGD:5509593 |
RGD |
| G |
Igf2r |
insulin-like growth factor 2 receptor |
|
|
IEP |
1 |
42,253,273 |
42,341,646 |
RGD:2311519 |
RGD |
| G |
Itpr2 |
inositol 1,4,5-trisphosphate receptor, type 2 |
|
Susceptibility |
ISS |
4 |
183,677,606 |
184,066,130 |
RGD:6482791 |
RGD |
| G |
Kdr |
kinase insert domain receptor |
|
|
ISS |
|
|
|
RGD:1580568 |
RGD |
| G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
|
ISS |
8 |
20,259,178 |
20,266,351 |
RGD:6893397 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508417 |
RGD |
| G |
Mmp1 |
matrix metallopeptidase 1 (interstitial collagenase) |
|
|
ISS |
8 |
4,333,773 |
4,354,284 |
RGD:7207054 |
RGD |
| G |
Mmp2 |
matrix metallopeptidase 2 |
|
Severity |
ISS |
19 |
15,246,036 |
15,275,061 |
RGD:7207054 |
RGD |
| G |
Mmp9 |
matrix metallopeptidase 9 |
|
Severity |
ISS |
3 |
155,985,473 |
155,993,433 |
RGD:7207054 |
RGD |
| G |
Mstn |
myostatin |
|
|
IPM |
9 |
45,426,831 |
45,431,658 |
RGD:2303556 |
RGD |
| G |
Mt1a |
metallothionein 1a |
|
|
ISS |
19 |
11,261,631 |
11,262,647 |
RGD:6484130 |
RGD |
| G |
Mt2A |
metallothionein 2A |
|
Onset |
ISS |
19 |
11,267,811 |
11,268,585 |
RGD:6482832 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
ISS |
19 |
11,284,554 |
11,286,402 |
RGD:6480627 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
ISS |
19 |
11,284,554 |
11,286,402 |
RGD:6480625 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
ISS |
19 |
11,284,554 |
11,286,402 |
RGD:6480495 |
RGD |
| G |
Nefh |
neurofilament, heavy polypeptide |
|
|
ISS |
14 |
85,594,789 |
85,604,774 |
RGD:1302518 |
RGD |
| G |
Nfe2l2 |
nuclear factor, erythroid derived 2, like 2 |
|
|
ISS |
3 |
58,366,693 |
58,394,116 |
RGD:6893397 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:5509065 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480502 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480506 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480504 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:7240710 |
OMIM |
| G |
Pgf |
placental growth factor |
|
|
ISS |
6 |
109,215,540 |
109,226,122 |
RGD:6483573 |
RGD |
| G |
Pon2 |
paraoxonase 2 |
|
|
ISS |
4 |
30,033,229 |
30,068,643 |
RGD:5509925 |
RGD |
| G |
Pon3 |
paraoxonase 3 |
|
|
ISS |
4 |
30,000,505 |
30,027,203 |
RGD:5509925 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7242019 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7242019 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:6484265 |
RGD |
| G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
|
ISS |
13 |
64,427,288 |
64,432,978 |
RGD:5688235 |
RGD |
| G |
Rara |
retinoic acid receptor, alpha |
|
|
IEP |
10 |
87,740,479 |
87,753,265 |
RGD:2314289 |
RGD |
| G |
Runx1 |
runt-related transcription factor 1 |
|
|
ISS |
11 |
32,623,461 |
32,725,404 |
RGD:6482832 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
Onset |
ISS |
7 |
139,094,505 |
139,127,427 |
RGD:5688710 |
RGD |
| G |
Slc1a2 |
solute carrier family 1 (glial high affinity glutamate transporter), member 2 |
|
|
ISS |
3 |
87,870,558 |
87,992,401 |
RGD:1302517 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:1581229 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:737689 |
RGD |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
IAGP |
11 |
29,810,766 |
29,816,342 |
RGD:2312367 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687157 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687134 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687173 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687158 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
Disease_progression |
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687137 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687192 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:7240710 |
OMIM |
| G |
Tfam |
transcription factor A, mitochondrial |
|
Severity |
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6767572 |
RGD |
| G |
Txnrd1 |
thioredoxin reductase 1 |
|
Susceptibility |
ISS |
7 |
23,055,544 |
23,093,815 |
RGD:5685032 |
RGD |
| G |
Ubqln2 |
ubiquilin 2 |
|
|
ISS |
X |
37,992,907 |
37,996,327 |
RGD:5147832 |
RGD |
| G |
Unc13a |
unc-13 homolog A (C. elegans) |
|
|
ISS |
16 |
18,827,405 |
18,872,461 |
RGD:5686384 |
RGD |
| G |
Unc13a |
unc-13 homolog A (C. elegans) |
|
No_Association |
ISS |
16 |
18,827,405 |
18,872,461 |
RGD:5686382 |
RGD |
| G |
Vapb |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
|
|
ISS |
3 |
164,632,388 |
164,669,187 |
RGD:5688230 |
RGD |
| G |
Vapb |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
|
|
ISS |
3 |
164,632,388 |
164,669,187 |
RGD:7240710 |
OMIM |
| G |
Vegfa |
vascular endothelial growth factor A |
|
|
ISS |
9 |
10,520,730 |
10,536,071 |
RGD:1580568 |
RGD |
| S |
SD-Tg(SOD1*G93A)26Dwc |
|
|
Model |
IAGP |
|
|
|
RGD:729817 |
RGD |
| S |
SD-Tg(SOD1*G93A)39 |
|
|
Model |
IED |
|
|
|
RGD:2290184 |
RGD |
| S |
SD-Tg(SOD1*H46R)4 |
|
|
Model |
IED |
|
|
|
RGD:2290184 |
RGD |
Amyotrophic lateral sclerosis 1
|
| G |
Dctn1 |
dynactin 1 |
|
|
ISS |
4 |
117,390,323 |
117,410,119 |
RGD:7240710 |
OMIM |
| G |
Nefh |
neurofilament, heavy polypeptide |
|
|
ISS |
14 |
85,594,789 |
85,604,774 |
RGD:7240710 |
OMIM |
| G |
Prph |
peripherin |
|
|
ISS |
7 |
137,836,152 |
137,839,931 |
RGD:7240710 |
OMIM |
| G |
Sod1 |
superoxide dismutase 1, soluble |
|
|
ISS |
11 |
29,810,766 |
29,816,342 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 10
|
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 11
|
| G |
Fig4 |
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
|
|
ISS |
20 |
45,123,352 |
45,248,795 |
RGD:7240710 |
OMIM |
AMYOTROPHIC LATERAL SCLEROSIS 12
|
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 2, Juvenile
|
| G |
Als2 |
amyotrophic lateral sclerosis 2 (juvenile) |
|
|
ISS |
9 |
57,741,679 |
57,812,652 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 4, Juvenile
|
| G |
Setx |
senataxin |
|
|
ISS |
3 |
8,113,749 |
8,156,463 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
|
| G |
Fus |
fused in sarcoma |
|
|
ISS |
1 |
187,250,871 |
187,264,742 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 8
|
| G |
Vapb |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
|
|
ISS |
3 |
164,632,388 |
164,669,187 |
RGD:7240710 |
OMIM |
Amyotrophic Lateral Sclerosis 9
|
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:7240710 |
OMIM |
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
|
| G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
|
ISS |
3 |
114,320,799 |
114,410,498 |
RGD:5685005 |
RGD |
| G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
No_Association |
ISS |
3 |
114,320,799 |
114,410,498 |
RGD:5685008 |
RGD |
| G |
Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
|
|
ISS |
3 |
114,320,799 |
114,410,498 |
RGD:7240710 |
OMIM |
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 |
Ataxia Telangiectasia
|
| G |
Atm |
ataxia telangiectasia mutated |
|
|
ISS |
8 |
56,894,746 |
56,996,565 |
RGD:1578504 |
RGD |
| G |
Atm |
ataxia telangiectasia mutated |
|
|
ISS |
8 |
56,894,746 |
56,996,565 |
RGD:7240710 |
OMIM |
| G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
|
ISS |
16 |
69,110,522 |
69,123,895 |
RGD:1549427 |
RGD |
| G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
|
ISS |
16 |
69,110,522 |
69,123,895 |
RGD:1549428 |
RGD |
ATAXIA-TELANGIECTASIA-LIKE DISORDER
|
| G |
Mre11a |
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) |
|
|
ISS |
8 |
11,588,409 |
11,632,483 |
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 |
AXENFELD-RIEGER SYNDROME, TYPE 1
|
| G |
Pitx2 |
paired-like homeodomain 2 |
|
|
ISS |
2 |
226,581,170 |
226,601,319 |
RGD:7240710 |
OMIM |
Borjeson-Forssman-Lehmann syndrome
|
| G |
Phf6 |
PHD finger protein 6 |
|
|
ISS |
X |
139,850,136 |
139,890,670 |
RGD:7240710 |
OMIM |
Brody myopathy
|
| G |
Atp2a1 |
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
Brown-Vialetto-Van Laere syndrome
|
| G |
Slc52a3 |
solute carrier family 52, riboflavin transporter, member 3 |
|
|
ISS |
3 |
142,360,661 |
142,365,285 |
RGD:7240710 |
OMIM |
Bulbar Palsy, Progressive
|
| G |
Slc52a3 |
solute carrier family 52, riboflavin transporter, member 3 |
|
|
ISS |
3 |
142,360,661 |
142,365,285 |
RGD:7240710 |
OMIM |
Bulbo-Spinal Atrophy, X-Linked
|
| G |
Ar |
androgen receptor |
|
|
ISS |
X |
85,949,507 |
86,119,199 |
RGD:7240710 |
OMIM |
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:6218978 |
RGD |
Bulbospinal neuronopathy, X-linked recessive
|
| G |
Ar |
androgen receptor |
|
|
ISS |
X |
85,949,507 |
86,119,199 |
RGD:7240710 |
OMIM |
Canavan Disease
|
| G |
Aspa |
aspartoacylase |
|
Model |
IAGP |
10 |
60,178,509 |
60,199,207 |
RGD:1599298 |
RGD |
| G |
Aspa |
aspartoacylase |
|
Susceptibility |
ISS |
10 |
60,178,509 |
60,199,207 |
RGD:1599291 |
RGD |
| G |
Aspa |
aspartoacylase |
|
|
ISS |
10 |
60,178,509 |
60,199,207 |
RGD:7240710 |
OMIM |
| G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
|
ISS |
8 |
60,610,835 |
60,645,877 |
RGD:5686858 |
RGD |
| G |
Glud1 |
glutamate dehydrogenase 1 |
|
|
ISS |
16 |
9,965,718 |
9,999,254 |
RGD:6484588 |
RGD |
| S |
TRM/Kyo |
tremor rat |
|
Model |
TAS |
|
|
|
RGD:628404 |
RGD |
| S |
W-AspatmKyo |
|
|
|
IED |
|
|
|
RGD:628403 |
RGD |
| S |
W-AspatmKyo |
|
|
|
IED |
|
|
|
RGD:628404 |
RGD |
Cerebrooculofacioskeletal Syndrome 1
|
| G |
Ercc6 |
excision repair cross-complementing rodent repair deficiency, complementation group 6 |
|
|
ISS |
16 |
8,024,881 |
8,091,587 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 1, infantile
|
| G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
|
ISS |
5 |
142,153,498 |
142,173,401 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 3, Juvenile
|
| G |
Cln3 |
ceroid-lipofuscinosis, neuronal 3 |
|
|
ISS |
1 |
185,713,096 |
185,724,375 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 4
|
| G |
Cln6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
|
|
ISS |
8 |
66,987,057 |
67,002,013 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 5
|
| G |
Cln5 |
ceroid-lipofuscinosis, neuronal 5 |
|
|
ISS |
15 |
87,080,071 |
87,089,784 |
RGD:7240710 |
OMIM |
Ceroid lipofuscinosis, neuronal 8
|
| G |
Cln8 |
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) |
|
|
ISS |
16 |
79,569,745 |
79,579,636 |
RGD:7240710 |
OMIM |
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
| G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
|
ISS |
5 |
142,153,498 |
142,173,401 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 10
|
| G |
Ctsd |
cathepsin D |
|
|
ISS |
1 |
202,619,669 |
202,631,545 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 2
|
| G |
Tpp1 |
tripeptidyl peptidase I |
|
|
ISS |
1 |
163,490,394 |
163,496,517 |
RGD:7240710 |
OMIM |
Ceroid Lipofuscinosis, Neuronal, 6
|
| G |
Cln6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
|
|
ISS |
8 |
66,987,057 |
67,002,013 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:1358619 |
RGD |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:1358531 |
RGD |
| G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
|
ISS |
5 |
1,006,203 |
1,025,281 |
RGD:1358634 |
RGD |
| G |
Gjb1 |
gap junction protein, beta 1 |
|
|
ISS |
X |
89,448,873 |
89,456,812 |
RGD:704404 |
RGD |
| G |
Hoxd10 |
homeo box D10 |
|
|
ISS |
3 |
57,306,064 |
57,309,273 |
RGD:7240710 |
OMIM |
| G |
Lmna |
lamin A/C |
|
|
ISS |
2 |
180,595,724 |
180,616,354 |
RGD:1358482 |
RGD |
| G |
Mfn2 |
mitofusin 2 |
|
|
ISS |
5 |
164,951,252 |
164,980,763 |
RGD:1601408 |
RGD |
| G |
Mfn2 |
mitofusin 2 |
|
|
ISS |
5 |
164,951,252 |
164,980,763 |
RGD:1601409 |
RGD |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:1358504 |
RGD |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:1358513 |
RGD |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
| G |
Nefl |
neurofilament, light polypeptide |
|
|
ISS |
15 |
47,636,303 |
47,640,176 |
RGD:1358514 |
RGD |
| G |
Ntrk2 |
neurotrophic tyrosine kinase, receptor, type 2 |
|
|
ISS |
17 |
11,494,463 |
11,811,654 |
RGD:5684901 |
RGD |
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:1358786 |
RGD |
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:1358560 |
RGD |
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:7240710 |
OMIM |
| G |
Tnfrsf11b |
tumor necrosis factor receptor superfamily, member 11b |
|
|
ISS |
7 |
90,606,424 |
90,634,431 |
RGD:7205513 |
RGD |
| S |
SD-Tg(Pmp22)Kan |
|
|
Model |
IED |
|
|
|
RGD:2312445 |
RGD |
Charcot-Marie-Tooth disease and deafness
|
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
|
| G |
Kif1b |
kinesin family member 1B |
|
|
ISS |
5 |
166,250,225 |
166,381,782 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
|
| G |
Mfn2 |
mitofusin 2 |
|
|
ISS |
5 |
164,951,252 |
164,980,763 |
RGD:7240710 |
OMIM |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
|
| G |
Hspb8 |
heat shock protein B8 |
|
|
ISS |
12 |
41,407,166 |
41,421,565 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
| G |
Aars |
alanyl-tRNA synthetase |
|
|
ISS |
19 |
40,952,408 |
40,974,425 |
RGD:7240710 |
OMIM |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
|
| G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
|
ISS |
5 |
1,006,203 |
1,025,281 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Dominant Intermediate B
|
| G |
Dnm2 |
dynamin 2 |
|
|
ISS |
8 |
20,527,130 |
20,610,749 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Dominant Intermediate C
|
| G |
Yars |
tyrosyl-tRNA synthetase |
|
|
ISS |
5 |
148,350,363 |
148,378,989 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Dominant Intermediate D
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Recessive Intermediate A
|
| G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
|
ISS |
5 |
1,006,203 |
1,025,281 |
RGD:7240710 |
OMIM |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
| G |
Kars |
lysyl-tRNA synthetase |
|
|
ISS |
19 |
41,927,508 |
41,946,461 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 1C
|
| G |
Litaf |
lipopolysaccharide-induced TNF factor |
|
|
ISS |
10 |
4,614,177 |
4,623,903 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 1D
|
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 1F
|
| G |
Nefl |
neurofilament, light polypeptide |
|
|
ISS |
15 |
47,636,303 |
47,640,176 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2B1
|
| G |
Lmna |
lamin A/C |
|
|
ISS |
2 |
180,595,724 |
180,616,354 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2B2
|
| G |
Med25 |
mediator complex subunit 25 |
|
|
ISS |
1 |
95,351,526 |
95,364,403 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2D
|
| G |
Gars |
glycyl-tRNA synthetase |
|
|
ISS |
4 |
83,718,584 |
83,759,591 |
RGD:7240710 |
OMIM |
| G |
Smad1 |
SMAD family member 1 |
|
|
ISS |
19 |
30,348,886 |
30,409,345 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2E
|
| G |
Nefl |
neurofilament, light polypeptide |
|
|
ISS |
15 |
47,636,303 |
47,640,176 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2F
|
| G |
Hspb1 |
heat shock protein 1 |
|
|
ISS |
12 |
21,911,223 |
21,912,784 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2I
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2J
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 2K
|
| G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
|
ISS |
5 |
1,006,203 |
1,025,281 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 4A
|
| G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
|
|
ISS |
5 |
1,006,203 |
1,025,281 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 4B1
|
| G |
Mtmr2 |
myotubularin related protein 2 |
|
|
ISS |
8 |
10,556,644 |
10,606,844 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 4B2
|
| G |
Sbf2 |
SET binding factor 2 |
|
|
ISS |
1 |
167,981,153 |
168,046,136 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 4C
|
| G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
|
|
ISS |
18 |
57,941,970 |
58,002,846 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, Type 4E
|
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:7240710 |
OMIM |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Type 4H
|
| G |
Fgd4 |
FYVE, RhoGEF and PH domain containing 4 |
|
|
ISS |
11 |
86,700,118 |
86,767,928 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth Disease, Type 4j
|
| G |
Fig4 |
FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) |
|
|
ISS |
20 |
45,123,352 |
45,248,795 |
RGD:7240710 |
OMIM |
Charcot-Marie-Tooth disease, X-linked, 1
|
| G |
Gjb1 |
gap junction protein, beta 1 |
|
|
ISS |
X |
89,448,873 |
89,456,812 |
RGD:7240710 |
OMIM |
CK SYNDROME
|
| G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
|
ISS |
X |
158,923,025 |
158,954,914 |
RGD:7240710 |
OMIM |
Cockayne Syndrome
|
| G |
Ercc6 |
excision repair cross-complementing rodent repair deficiency, complementation group 6 |
|
|
ISS |
16 |
8,024,881 |
8,091,587 |
RGD:7240710 |
OMIM |
Coffin-Lowry Syndrome
|
| G |
Rps6ka3 |
ribosomal protein S6 kinase polypeptide 3 |
|
|
ISS |
X |
56,722,878 |
56,825,444 |
RGD:7240710 |
OMIM |
Combined Saposin Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
Costeff optic atrophy syndrome
|
| G |
Opa3 |
optic atrophy 3 |
|
|
ISS |
1 |
78,592,874 |
78,611,029 |
RGD:7240710 |
OMIM |
Creatine deficiency, X-linked
|
| G |
Slc6a8 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
|
|
ISS |
X |
159,570,789 |
159,580,093 |
RGD:7240710 |
OMIM |
Dysautonomia, Familial
|
| G |
Ikbkap |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
|
|
ISS |
5 |
74,657,287 |
74,707,435 |
RGD:7240710 |
OMIM |
| G |
Ikbkap |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
|
|
ISS |
5 |
74,657,287 |
74,707,435 |
RGD:633134 |
RGD |
| G |
Ikbkap |
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
|
|
ISS |
5 |
74,657,287 |
74,707,435 |
RGD:5129156 |
RGD |
Dystonia 6, torsion
|
| G |
Thap1 |
THAP domain containing, apoptosis associated protein 1 |
|
|
ISS |
16 |
70,268,327 |
70,272,795 |
RGD:7240710 |
OMIM |
Dystonia Musculorum Deformans
|
| G |
Dyt1 |
dystonia 1 |
|
|
TAS |
3 |
10,026,129 |
10,033,125 |
RGD:634735 |
RGD |
Dystrophia myotonica 1
|
| G |
Dmpk |
dystrophia myotonica-protein kinase |
|
|
ISS |
1 |
78,449,324 |
78,450,578 |
RGD:7240710 |
OMIM |
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
|
| G |
Aptx |
aprataxin |
|
|
ISS |
5 |
58,060,210 |
58,081,165 |
RGD:7240710 |
OMIM |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
|
| G |
Mecp2 |
methyl CpG binding protein 2 |
|
|
ISS |
X |
159,980,599 |
160,035,260 |
RGD:7240710 |
OMIM |
Epileptic Encephalopathy, Early Infantile, 2
|
| G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
|
ISS |
X |
55,033,499 |
55,228,646 |
RGD:7240710 |
OMIM |
Familial apoceruloplasmin deficiency
|
| G |
Cp |
ceruloplasmin (ferroxidase) |
|
|
ISS |
2 |
105,086,278 |
105,135,367 |
RGD:7240710 |
OMIM |
Familial encephalopathy with neuroserpin inclusion bodies
|
| G |
Serpinb7 |
serpin peptidase inhibitor, clade B (ovalbumin), member 7 |
|
|
ISS |
13 |
13,464,818 |
13,506,372 |
RGD:7207386 |
RGD |
| G |
Serpini1 |
serpin peptidase inhibitor, clade I (neuroserpin), member 1 |
|
|
ISS |
2 |
166,445,765 |
166,555,032 |
RGD:7240710 |
OMIM |
FRAGILE X MENTAL RETARDATION SYNDROME
|
| G |
Fmr1 |
fragile X mental retardation 1 |
|
|
ISS |
X |
154,756,031 |
154,793,782 |
RGD:7240710 |
OMIM |
Fragile X Syndrome
|
| G |
Aff2 |
AF4/FMR2 family, member 2 |
|
|
ISS |
X |
155,617,378 |
155,970,597 |
RGD:7240710 |
OMIM |
| G |
Fmr1 |
fragile X mental retardation 1 |
|
|
ISS |
X |
154,756,031 |
154,793,782 |
RGD:1601178 |
RGD |
Fragile X Tremor Ataxia Syndrome
|
| G |
Fmr1 |
fragile X mental retardation 1 |
|
|
ISS |
X |
154,756,031 |
154,793,782 |
RGD:7240710 |
OMIM |
Friedreich Ataxia
|
| G |
Aptx |
aprataxin |
|
Susceptibility |
ISS |
5 |
58,060,210 |
58,081,165 |
RGD:1599207 |
RGD |
| G |
Fxn |
frataxin |
|
|
ISS |
1 |
227,647,092 |
227,671,081 |
RGD:1598961 |
RGD |
| G |
Fxn |
frataxin |
|
|
ISS |
1 |
227,647,092 |
227,671,081 |
RGD:1582636 |
RGD |
| G |
Fxn |
frataxin |
|
|
ISS |
1 |
227,647,092 |
227,671,081 |
RGD:7240710 |
OMIM |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5490251 |
RGD |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS
|
| G |
RGD1359108 |
similar to RIKEN cDNA 3110043O21 |
|
|
ISS |
5 |
51,839,724 |
51,865,205 |
RGD:7240710 |
OMIM |
Gerstmann-Straussler-Scheinker Disease
|
| G |
Prnp |
prion protein |
|
|
ISS |
3 |
119,676,137 |
119,691,507 |
RGD:7240710 |
OMIM |
Giant Axonal Neuropathy
|
| G |
Gan |
gigaxonin |
|
|
ISS |
19 |
47,263,532 |
47,310,683 |
RGD:7240710 |
OMIM |
Glycogen Storage Disease Type IIb
|
| G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
|
ISS |
X |
6,908,285 |
6,951,772 |
RGD:7240710 |
OMIM |
Hepatolenticular Degeneration
|
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
IAGP |
16 |
74,607,988 |
74,680,080 |
RGD:2292672 |
RGD |
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
IED |
16 |
74,607,988 |
74,680,080 |
RGD:734622 |
RGD |
| G |
Atp7b |
ATPase, Cu++ transporting, beta polypeptide |
|
|
ISS |
16 |
74,607,988 |
74,680,080 |
RGD:7240710 |
OMIM |
| G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
|
|
IED |
|
|
|
RGD:2307322 |
RGD |
| G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
|
IED |
2 |
27,127,504 |
27,149,580 |
RGD:2292672 |
RGD |
| G |
Smpd1 |
sphingomyelin phosphodiesterase 1, acid lysosomal |
|
Severity |
IED |
1 |
163,278,970 |
163,282,813 |
RGD:1601345 |
RGD |
| Q |
Hcuc1 |
Hepatic copper content QTL 1 |
|
|
IAGP |
|
|
|
RGD:619607 |
RGD |
| Q |
Hcuc2 |
Hepatic copper content QTL 2 |
|
|
IAGP |
16 |
1 |
40,096,622 |
RGD:619607 |
RGD |
| Q |
Hcuc3 |
Hepatic copper content QTL 3 |
|
|
IAGP |
2 |
217,985,582 |
238,139,978 |
RGD:629572 |
RGD |
| Q |
Hcuc4 |
Hepatic copper content QTL 4 |
|
|
IAGP |
10 |
70,191,595 |
77,091,834 |
RGD:629572 |
RGD |
Hereditary Motor And Sensory Neuropathy VI
|
| G |
Mfn2 |
mitofusin 2 |
|
|
ISS |
5 |
164,951,252 |
164,980,763 |
RGD:7240710 |
OMIM |
Hereditary Motor And Sensory Neuropathy, Type IIC
|
| G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
|
|
ISS |
12 |
43,226,933 |
43,265,889 |
RGD:7240710 |
OMIM |
Hereditary Sensory and Autonomic Neuropathies
|
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5684543 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5684769 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5684767 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5684544 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:5684770 |
RGD |
| G |
Ntrk1 |
neurotrophic tyrosine kinase, receptor, type 1 |
|
|
ISS |
2 |
179,838,740 |
179,855,545 |
RGD:7240710 |
OMIM |
Hereditary Sensory and Motor Neuropathy
|
| G |
Amacr |
alpha-methylacyl-CoA racemase |
|
|
ISS |
2 |
60,332,292 |
60,344,326 |
RGD:7240710 |
OMIM |
| G |
Chm |
choroideremia (Rab escort protein 1) |
|
|
ISS |
X |
101,753,857 |
101,927,941 |
RGD:7240710 |
OMIM |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:734922 |
RGD |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:1601012 |
RGD |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:1358536 |
RGD |
| G |
Egr2 |
early growth response 2 |
|
|
ISS |
20 |
21,883,885 |
21,888,177 |
RGD:7240710 |
OMIM |
| G |
Mfn2 |
mitofusin 2 |
|
|
ISS |
5 |
164,951,252 |
164,980,763 |
RGD:1601409 |
RGD |
| G |
Mpz |
myelin protein zero |
|
|
ISS |
13 |
87,040,479 |
87,045,378 |
RGD:7240710 |
OMIM |
| G |
Pmp22 |
peripheral myelin protein 22 |
|
|
ISS |
10 |
49,305,835 |
49,335,864 |
RGD:7240710 |
OMIM |
| G |
Prx |
periaxin |
|
|
ISS |
1 |
82,577,850 |
82,598,184 |
RGD:7240710 |
OMIM |
| G |
Slc12a6 |
solute carrier family 12, member 6 |
|
|
ISS |
3 |
98,110,547 |
98,212,242 |
RGD:1580594 |
RGD |
Hereditary spastic paralysis, infantile onset ascending
|
| G |
Als2 |
amyotrophic lateral sclerosis 2 (juvenile) |
|
|
ISS |
9 |
57,741,679 |
57,812,652 |
RGD:7240710 |
OMIM |
Huntington Disease
|
| G |
Ache |
acetylcholinesterase |
|
|
ISS |
|
|
|
RGD:5688127 |
RGD |
| G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
|
ISS |
11 |
79,908,291 |
79,911,065 |
RGD:5686822 |
RGD |
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5147768 |
RGD |
| G |
Bche |
butyrylcholinesterase |
|
|
ISS |
2 |
164,329,613 |
164,427,994 |
RGD:5688127 |
RGD |
| G |
Casp3 |
caspase 3 |
|
|
ISS |
16 |
48,944,226 |
48,962,420 |
RGD:734693 |
RGD |
| G |
Casp8 |
caspase 8 |
|
|
ISS |
9 |
57,389,353 |
57,437,803 |
RGD:734695 |
RGD |
| G |
Cat |
catalase |
|
|
IEP |
3 |
88,654,077 |
88,686,212 |
RGD:5130752 |
RGD |
| G |
Chat |
choline O-acetyltransferase |
|
|
ISS |
16 |
7,913,026 |
7,965,985 |
RGD:5686805 |
RGD |
| G |
Cnr2 |
cannabinoid receptor 2 (macrophage) |
|
|
IED |
5 |
154,674,754 |
154,702,552 |
RGD:2316196 |
RGD |
| G |
Cnr2 |
cannabinoid receptor 2 (macrophage) |
|
|
ISS |
5 |
154,674,754 |
154,702,552 |
RGD:2316196 |
RGD |
| G |
Cntf |
ciliary neurotrophic factor |
|
|
IED |
1 |
215,842,668 |
215,844,691 |
RGD:628474 |
RGD |
| G |
Cntf |
ciliary neurotrophic factor |
|
|
ISS |
1 |
215,842,668 |
215,844,691 |
RGD:734795 |
RGD |
| G |
Creb1 |
cAMP responsive element binding protein 1 |
|
|
ISS |
9 |
63,170,785 |
63,234,727 |
RGD:734817 |
RGD |
| G |
Ctsh |
cathepsin H |
|
|
ISS |
8 |
94,971,689 |
94,990,434 |
RGD:5686393 |
RGD |
| G |
Drd1 |
dopamine receptor D1 |
|
|
ISS |
17 |
16,655,926 |
16,658,161 |
RGD:5686414 |
RGD |
| G |
Drd1 |
dopamine receptor D1 |
|
|
IEP |
17 |
16,655,926 |
16,658,161 |
RGD:2302117 |
RGD |
| G |
Drd2 |
dopamine receptor D2 |
|
|
ISS |
8 |
52,641,160 |
52,707,749 |
RGD:5686414 |
RGD |
| G |
Drd3 |
dopamine receptor D3 |
|
|
ISS |
11 |
58,446,901 |
58,520,589 |
RGD:5686414 |
RGD |
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:5686414 |
RGD |
| G |
E2f1 |
E2F transcription factor 1 |
|
|
IEP |
3 |
145,032,489 |
145,043,729 |
RGD:2316262 |
RGD |
| G |
F2 |
coagulation factor II |
|
|
ISS |
3 |
76,005,318 |
76,018,603 |
RGD:5147768 |
RGD |
| G |
Git1 |
G protein-coupled receptor kinase interacting ArfGAP 1 |
|
|
ISS |
10 |
66,610,282 |
66,618,919 |
RGD:1549448 |
RGD |
| G |
Gja1 |
gap junction protein, alpha 1 |
|
|
ISS |
20 |
35,409,815 |
35,422,262 |
RGD:7207854 |
RGD |
| G |
Grik2 |
glutamate receptor, ionotropic, kainate 2 |
|
|
ISS |
20 |
53,231,473 |
53,713,131 |
RGD:1358638 |
RGD |
| G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
|
ISS |
2 |
27,127,504 |
27,149,580 |
RGD:5508462 |
RGD |
| G |
Hnmt |
histamine N-methyltransferase |
|
|
ISS |
3 |
2,057,938 |
2,089,955 |
RGD:5509774 |
RGD |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
ISS |
8 |
43,784,035 |
43,787,760 |
RGD:5688778 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688723 |
RGD |
| G |
Htt |
huntingtin |
|
|
IPM |
14 |
81,490,322 |
81,636,856 |
RGD:6902915 |
RGD |
| G |
Htt |
huntingtin |
|
|
ISS |
14 |
81,490,322 |
81,636,856 |
RGD:1302537 |
RGD |
| G |
Htt |
huntingtin |
|
|
ISS |
14 |
81,490,322 |
81,636,856 |
RGD:7240710 |
OMIM |
| G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
|
ISS |
4 |
143,705,360 |
144,030,051 |
RGD:6480875 |
RGD |
| G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
|
ISS |
4 |
143,705,360 |
144,030,051 |
RGD:6480685 |
RGD |
| G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
|
IEP |
4 |
143,705,360 |
144,030,051 |
RGD:6483009 |
RGD |
| G |
Kalrn |
kalirin, RhoGEF kinase |
|
|
TAS |
11 |
68,124,348 |
68,611,336 |
RGD:728800 |
RGD |
| G |
L1cam |
L1 cell adhesion molecule |
|
|
ISS |
X |
159,784,792 |
159,801,553 |
RGD:6483035 |
RGD |
| G |
Lep |
leptin |
|
|
IEP |
4 |
55,943,837 |
55,945,938 |
RGD:5128676 |
RGD |
| G |
Map2 |
microtubule-associated protein 2 |
|
|
ISS |
9 |
65,174,376 |
65,256,003 |
RGD:6483090 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
IPM |
MT |
9,451 |
9,798 |
RGD:5687693 |
RGD |
| G |
Ncor1 |
nuclear receptor co-repressor 1 |
|
|
ISS |
10 |
48,481,110 |
48,628,538 |
RGD:5688338 |
RGD |
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480499 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7242018 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:7242018 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:6484269 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:6484259 |
RGD |
| G |
Ppp3ca |
protein phosphatase 3, catalytic subunit, alpha isozyme |
|
|
ISS |
2 |
234,130,176 |
234,409,232 |
RGD:6483320 |
RGD |
| G |
Prkaa1 |
protein kinase, AMP-activated, alpha 1 catalytic subunit |
|
|
ISS |
2 |
54,327,821 |
54,360,462 |
RGD:6484534 |
RGD |
| G |
Prkaa1 |
protein kinase, AMP-activated, alpha 1 catalytic subunit |
|
|
ISS |
2 |
54,327,821 |
54,360,462 |
RGD:6484534 |
RGD |
| G |
Psmb9 |
proteasome (prosome, macropain) subunit, beta type, 9 |
|
|
ISS |
20 |
4,801,187 |
4,806,608 |
RGD:6483364 |
RGD |
| G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
|
IPM |
13 |
64,427,288 |
64,432,978 |
RGD:5508227 |
RGD |
| G |
Slc18a3 |
solute carrier family 18 (vesicular acetylcholine), member 3 |
|
|
ISS |
16 |
7,969,738 |
7,972,599 |
RGD:5686805 |
RGD |
| G |
Tbp |
TATA box binding protein |
|
Severity |
ISS |
1 |
54,390,756 |
54,407,563 |
RGD:5684339 |
RGD |
| G |
Tfam |
transcription factor A, mitochondrial |
|
|
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6770890 |
RGD |
| G |
Tfam |
transcription factor A, mitochondrial |
|
|
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6771173 |
RGD |
| G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
|
ISS |
10 |
108,310,473 |
108,358,821 |
RGD:1580169 |
RGD |
Huntington Disease-Like 1
|
| G |
Prnp |
prion protein |
|
|
ISS |
3 |
119,676,137 |
119,691,507 |
RGD:7240710 |
OMIM |
Huntington Disease-Like 2
|
| G |
Jph3 |
junctophilin 3 |
|
|
ISS |
19 |
51,975,477 |
52,037,634 |
RGD:7240710 |
OMIM |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
|
| G |
Pank2 |
pantothenate kinase 2 |
|
|
ISS |
3 |
118,970,527 |
119,004,728 |
RGD:7240710 |
OMIM |
Krabbe Disease, Atypical, due to Saposin A Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
Lafora Disease
|
| G |
Epm2a |
epilepsy, progressive myoclonus type 2A |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Nhlrc1 |
NHL repeat containing 1 |
|
|
ISS |
17 |
23,726,054 |
23,727,244 |
RGD:7240710 |
OMIM |
Lesch-Nyhan Syndrome
|
| G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
|
|
ISS |
X |
139,929,647 |
139,961,616 |
RGD:7240710 |
OMIM |
Lethal Arthrogryposis With Anterior Horn Cell Disease
|
| G |
Gle1 |
GLE1 RNA export mediator homolog (yeast) |
|
|
ISS |
3 |
8,924,783 |
8,948,712 |
RGD:7240710 |
OMIM |
Leukodystrophy, Globoid Cell
|
| G |
Galc |
galactosylceramidase |
|
|
ISS |
6 |
122,355,659 |
122,416,986 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 2
|
| G |
Gjc2 |
gap junction protein, gamma 2 |
|
|
ISS |
10 |
45,480,937 |
45,488,651 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 4
|
| G |
Hspd1 |
heat shock protein 1 (chaperonin) |
|
|
ISS |
9 |
53,884,193 |
53,895,043 |
RGD:7240710 |
OMIM |
Leukodystrophy, Hypomyelinating, 5
|
| G |
Fam126a |
family with sequence similarity 126, member A |
|
|
ISS |
4 |
6,500,425 |
6,559,978 |
RGD:7240710 |
OMIM |
Leukodystrophy, Metachromatic
|
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:1358435 |
RGD |
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:1358434 |
RGD |
| G |
Arsa |
arylsulfatase A |
|
|
ISS |
7 |
127,790,208 |
127,792,734 |
RGD:7240710 |
OMIM |
| G |
Mal |
mal, T-cell differentiation protein |
|
|
ISS |
3 |
115,166,671 |
115,190,432 |
RGD:1358761 |
RGD |
Lewy Body Disease
|
| G |
Ccr1 |
chemokine (C-C motif) receptor 1 |
|
|
ISS |
8 |
128,693,658 |
128,699,213 |
RGD:5688166 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508424 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Klk6 |
kallikrein related-peptidase 6 |
|
|
ISS |
1 |
94,254,350 |
94,261,500 |
RGD:1358597 |
RGD |
| G |
Map2 |
microtubule-associated protein 2 |
|
|
ISS |
9 |
65,174,376 |
65,256,003 |
RGD:6483091 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:1358529 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6478792 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480095 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480103 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6478704 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:7240710 |
OMIM |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6480095 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6478800 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6219004 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:7240710 |
OMIM |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6478792 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6480095 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6478704 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687180 |
RGD |
Lissencephaly, X-Linked, 2
|
| G |
Arx |
aristaless related homeobox |
|
|
ISS |
X |
80,631,375 |
80,643,989 |
RGD:7240710 |
OMIM |
Lujan Fryns syndrome
|
| G |
Med12 |
mediator complex subunit 12 |
|
|
ISS |
X |
89,351,546 |
89,374,489 |
RGD:7240710 |
OMIM |
Machado-Joseph Disease
|
| G |
Atxn3 |
ataxin 3 |
|
Susceptibility |
ISS |
6 |
126,196,043 |
126,229,844 |
RGD:1599419 |
RGD |
| G |
Atxn3 |
ataxin 3 |
|
|
ISS |
6 |
126,196,043 |
126,229,844 |
RGD:7240710 |
OMIM |
| G |
Becn1 |
beclin 1, autophagy related |
|
|
ISS |
10 |
90,317,957 |
90,333,329 |
RGD:6483072 |
RGD |
| G |
Becn1 |
beclin 1, autophagy related |
|
|
ISS |
10 |
90,317,957 |
90,333,329 |
RGD:6483072 |
RGD |
| G |
S100b |
S100 calcium binding protein B |
|
|
ISS |
20 |
12,791,440 |
12,824,508 |
RGD:5508762 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
|
IEP |
1 |
265,789,917 |
265,824,551 |
RGD:5131159 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
IEP |
1 |
203,164,253 |
203,171,506 |
RGD:5131159 |
RGD |
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
|
| G |
L1cam |
L1 cell adhesion molecule |
|
|
ISS |
X |
159,784,792 |
159,801,553 |
RGD:6483061 |
RGD |
| G |
L1cam |
L1 cell adhesion molecule |
|
|
ISS |
X |
159,784,792 |
159,801,553 |
RGD:7240710 |
OMIM |
MAST Syndrome
|
| G |
Spg21 |
spastic paraplegia 21 homolog (human) |
|
|
ISS |
8 |
69,710,883 |
69,738,352 |
RGD:7240710 |
OMIM |
Megalencephalic leukoencephalopathy with subcortical cysts
|
| G |
Mlc1 |
megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
ISS |
7 |
127,265,491 |
127,288,102 |
RGD:7240710 |
OMIM |
Menkes Kinky Hair Syndrome
|
| G |
Atp7a |
ATPase, Cu++ transporting, alpha polypeptide |
|
|
ISS |
X |
94,192,540 |
94,249,776 |
RGD:734621 |
RGD |
| G |
Atp7a |
ATPase, Cu++ transporting, alpha polypeptide |
|
|
ISS |
X |
94,192,540 |
94,249,776 |
RGD:7240710 |
OMIM |
| G |
Lox |
lysyl oxidase |
|
|
ISS |
18 |
47,896,674 |
47,970,829 |
RGD:1581895 |
RGD |
| S |
ACI/N |
A X C 9935, Irish |
|
|
TAS |
|
|
|
RGD:1004 |
RGD |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
|
| G |
Cask |
calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
|
|
ISS |
X |
20,910,960 |
21,250,869 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked
|
| G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
|
ISS |
X |
36,168,547 |
36,232,162 |
RGD:7240710 |
OMIM |
| G |
Agtr2 |
angiotensin II receptor, type 2 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Ap1s2 |
adaptor-related protein complex 1, sigma 2 subunit |
|
|
ISS |
X |
51,329,574 |
51,356,406 |
RGD:7240710 |
OMIM |
| G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
|
|
ISS |
X |
141,946,362 |
142,068,557 |
RGD:7240710 |
OMIM |
| G |
Arx |
aristaless related homeobox |
|
|
ISS |
X |
80,631,375 |
80,643,989 |
RGD:7240710 |
OMIM |
| G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
|
ISS |
X |
97,008,947 |
97,131,275 |
RGD:7240710 |
OMIM |
| G |
Dlg3 |
discs, large homolog 3 (Drosophila) |
|
|
ISS |
X |
88,777,585 |
88,828,504 |
RGD:7240710 |
OMIM |
| G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
|
|
ISS |
X |
40,364,211 |
40,407,213 |
RGD:7240710 |
OMIM |
| G |
Ftsj1 |
FtsJ RNA methyltransferase homolog 1 (E. coli) |
|
|
ISS |
X |
26,275,183 |
26,282,960 |
RGD:7240710 |
OMIM |
| G |
Gria3 |
glutamate receptor, ionotropic, AMPA 3 |
|
|
ISS |
X |
3,452,523 |
3,718,486 |
RGD:7240710 |
OMIM |
| G |
Hcfc1 |
host cell factor C1 |
|
|
ISS |
X |
159,875,671 |
159,900,536 |
RGD:7240710 |
OMIM |
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:7240710 |
OMIM |
| G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
|
ISS |
X |
73,692,262 |
74,993,367 |
RGD:7240710 |
OMIM |
| G |
Magt1 |
magnesium transporter 1 |
|
|
ISS |
X |
94,095,479 |
94,133,659 |
RGD:7240710 |
OMIM |
| G |
Pak3 |
p21 protein (Cdc42/Rac)-activated kinase 3 |
|
|
ISS |
X |
34,734,814 |
34,842,093 |
RGD:7240710 |
OMIM |
| G |
Pqbp1 |
polyglutamine binding protein 1 |
|
|
ISS |
X |
26,638,460 |
26,642,640 |
RGD:7240710 |
OMIM |
| G |
Tspan7 |
tetraspanin 7 |
|
|
ISS |
X |
24,362,332 |
24,383,176 |
RGD:7240710 |
OMIM |
| G |
Zdhhc15 |
zinc finger, DHHC-type containing 15 |
|
|
ISS |
X |
92,568,201 |
92,700,448 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 17
|
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 21
|
| G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
|
ISS |
X |
73,692,262 |
74,993,367 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 3
|
| G |
Hcfc1 |
host cell factor C1 |
|
|
ISS |
X |
159,875,671 |
159,900,536 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 30
|
| G |
Pak3 |
p21 protein (Cdc42/Rac)-activated kinase 3 |
|
|
ISS |
X |
34,734,814 |
34,842,093 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 46
|
| G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
|
|
ISS |
X |
141,946,362 |
142,068,557 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 58
|
| G |
Tspan7 |
tetraspanin 7 |
|
|
ISS |
X |
24,362,332 |
24,383,176 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 63
|
| G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
|
ISS |
X |
36,168,547 |
36,232,162 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 9
|
| G |
Ftsj1 |
FtsJ RNA methyltransferase homolog 1 (E. coli) |
|
|
ISS |
X |
26,275,183 |
26,282,960 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 91
|
| G |
Zdhhc15 |
zinc finger, DHHC-type containing 15 |
|
|
ISS |
X |
92,568,201 |
92,700,448 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 93
|
| G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
|
ISS |
X |
97,008,947 |
97,131,275 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 94
|
| G |
Gria3 |
glutamate receptor, ionotropic, AMPA 3 |
|
|
ISS |
X |
3,452,523 |
3,718,486 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked 95
|
| G |
Magt1 |
magnesium transporter 1 |
|
|
ISS |
X |
94,095,479 |
94,133,659 |
RGD:7240710 |
OMIM |
MENTAL RETARDATION, X-LINKED 96
|
| G |
Syp |
synaptophysin |
|
|
ISS |
X |
26,890,307 |
26,905,319 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
|
| G |
Aff2 |
AF4/FMR2 family, member 2 |
|
|
ISS |
X |
155,617,378 |
155,970,597 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, Syndromic 10
|
| G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
|
ISS |
X |
41,489,343 |
41,491,788 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, Syndromic 13
|
| G |
Mecp2 |
methyl CpG binding protein 2 |
|
|
ISS |
X |
159,980,599 |
160,035,260 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, Syndromic 14
|
| G |
Upf3b |
UPF3 regulator of nonsense transcripts homolog B (yeast) |
|
|
ISS |
X |
7,801,655 |
7,819,849 |
RGD:7240710 |
OMIM |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE
|
| G |
Ap1s2 |
adaptor-related protein complex 1, sigma 2 subunit |
|
|
ISS |
X |
51,329,574 |
51,356,406 |
RGD:7240710 |
OMIM |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
|
| G |
Zdhhc9 |
zinc finger, DHHC-type containing 9 |
|
|
ISS |
X |
134,537,438 |
134,573,364 |
RGD:7240710 |
OMIM |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
|
| G |
Ophn1 |
oligophrenin 1 |
|
|
ISS |
X |
86,519,900 |
86,801,421 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, with Epilepsy
|
| G |
Atp6ap2 |
ATPase, H+ transporting, lysosomal accessory protein 2 |
|
|
ISS |
X |
22,264,078 |
22,291,988 |
RGD:7240710 |
OMIM |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
|
| G |
Arx |
aristaless related homeobox |
|
|
ISS |
X |
80,631,375 |
80,643,989 |
RGD:7240710 |
OMIM |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
| G |
Cul4b |
cullin 4B |
|
|
ISS |
X |
6,800,506 |
6,838,023 |
RGD:7240710 |
OMIM |
Mental retardation-hypotonic facies syndrome, x-linked, 1
|
| G |
Atrx |
alpha thalassemia/mental retardation syndrome X-linked |
|
|
ISS |
X |
93,903,794 |
94,051,337 |
RGD:7240710 |
OMIM |
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
| G |
Psap |
prosaposin |
|
|
ISS |
20 |
27,595,048 |
27,621,574 |
RGD:7240710 |
OMIM |
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
|
| G |
Peo1 |
progressive external ophthalmoplegia 1 |
|
|
ISS |
1 |
250,073,350 |
250,079,743 |
RGD:7240710 |
OMIM |
Motor Neuron Disease
|
| G |
Aif1 |
allograft inflammatory factor 1 |
|
|
IEP |
20 |
3,714,428 |
3,716,327 |
RGD:2313029 |
RGD |
| G |
Gstt1 |
glutathione S-transferase theta 1 |
|
Susceptibility |
ISS |
20 |
13,604,355 |
13,621,456 |
RGD:5490213 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
IPM |
19 |
11,284,554 |
11,286,402 |
RGD:6480623 |
RGD |
| G |
Nos1 |
nitric oxide synthase 1, neuronal |
|
|
ISS |
12 |
39,812,500 |
39,869,484 |
RGD:5132629 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687193 |
RGD |
Mucopolysaccharidosis II
|
| G |
Ids |
iduronate 2-sulfatase |
|
|
ISS |
X |
156,641,266 |
156,661,031 |
RGD:1599819 |
RGD |
| G |
Ids |
iduronate 2-sulfatase |
|
|
ISS |
X |
156,641,266 |
156,661,031 |
RGD:7240710 |
OMIM |
Multiple System Atrophy
|
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:5688775 |
RGD |
| G |
Igf2 |
insulin-like growth factor 2 |
|
Severity |
ISS |
1 |
202,906,624 |
202,915,231 |
RGD:5509960 |
RGD |
| G |
Klk6 |
kallikrein related-peptidase 6 |
|
|
ISS |
1 |
94,254,350 |
94,261,500 |
RGD:1358597 |
RGD |
| G |
Mt3 |
metallothionein 3 |
|
|
ISS |
19 |
11,284,554 |
11,286,402 |
RGD:6480516 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480091 |
RGD |
Muscular Atrophy, Spinal
|
| G |
Ankrd1 |
ankyrin repeat domain 1 |
|
|
ISS |
1 |
240,316,123 |
240,324,804 |
RGD:1578366 |
RGD |
| G |
Ar |
androgen receptor |
|
|
ISS |
X |
85,949,507 |
86,119,199 |
RGD:1578680 |
RGD |
| G |
Dpp6 |
dipeptidylpeptidase 6 |
|
|
ISS |
4 |
2,853,479 |
3,565,666 |
RGD:5687182 |
RGD |
| G |
Hexb |
hexosaminidase B |
|
|
ISS |
2 |
27,649,188 |
27,672,231 |
RGD:1599424 |
RGD |
| G |
Ighmbp2 |
immunoglobulin mu binding protein 2 |
|
|
ISS |
1 |
205,792,891 |
205,815,212 |
RGD:737748 |
RGD |
| G |
Pecam1 |
platelet/endothelial cell adhesion molecule 1 |
|
|
ISS |
10 |
96,056,220 |
96,057,232 |
RGD:6767297 |
RGD |
| G |
Smn1 |
survival of motor neuron 1, telomeric |
|
|
ISS |
2 |
31,147,743 |
31,159,938 |
RGD:1358253 |
RGD |
| G |
Vapb |
VAMP (vesicle-associated membrane protein)-associated protein B and C |
|
Onset |
ISS |
3 |
164,632,388 |
164,669,187 |
RGD:5688230 |
RGD |
Myotonia Congenita
|
| G |
Clcn1 |
chloride channel, voltage-sensitive 1 |
|
|
IED |
4 |
70,052,319 |
70,081,449 |
RGD:704389 |
RGD |
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
|
| G |
Clcn1 |
chloride channel, voltage-sensitive 1 |
|
|
ISS |
4 |
70,052,319 |
70,081,449 |
RGD:7240710 |
OMIM |
Myotonia Congenita, Autosomal Recessive
|
| G |
Clcn1 |
chloride channel, voltage-sensitive 1 |
|
|
ISS |
4 |
70,052,319 |
70,081,449 |
RGD:7240710 |
OMIM |
Myotonic Dystrophy
|
| G |
Dmpk |
dystrophia myotonica-protein kinase |
|
|
ISS |
1 |
78,449,324 |
78,450,578 |
RGD:1600900 |
RGD |
Neuroacanthocytosis
|
| G |
Vps13a |
vacuolar protein sorting 13 homolog A (S. cerevisiae) |
|
|
ISS |
1 |
219,987,826 |
220,221,494 |
RGD:7240710 |
OMIM |
Neurofibromatoses
|
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:1302540 |
RGD |
Neurofibromatosis 1
|
| G |
Bglap |
bone gamma-carboxyglutamate (gla) protein |
|
|
ISS |
2 |
180,482,313 |
180,483,290 |
RGD:6483542 |
RGD |
| G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
|
ISS |
5 |
108,908,749 |
108,916,380 |
RGD:1358481 |
RGD |
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:1580933 |
RGD |
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:7240710 |
OMIM |
Neurofibromatosis 2
|
| G |
Nf2 |
neurofibromin 2 (merlin) |
|
|
ISS |
14 |
85,415,142 |
85,508,807 |
RGD:7240710 |
OMIM |
Neurofibromatosis, Familial Spinal
|
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:7240710 |
OMIM |
Neurofibromatosis-Noonan syndrome
|
| G |
Nf1 |
neurofibromin 1 |
|
|
ISS |
10 |
65,574,833 |
65,766,305 |
RGD:7240710 |
OMIM |
Neuronal Ceroid-Lipofuscinoses
|
| G |
Cln3 |
ceroid-lipofuscinosis, neuronal 3 |
|
|
ISS |
1 |
185,713,096 |
185,724,375 |
RGD:1598669 |
RGD |
| G |
Cln6 |
ceroid-lipofuscinosis, neuronal 6, late infantile, variant |
|
|
ISS |
8 |
66,987,057 |
67,002,013 |
RGD:1358512 |
RGD |
| G |
Hspa5 |
heat shock protein 5 |
|
|
ISS |
3 |
13,783,825 |
13,788,022 |
RGD:5686293 |
RGD |
| G |
Sod2 |
superoxide dismutase 2, mitochondrial |
|
|
ISS |
1 |
41,862,997 |
41,870,327 |
RGD:1581253 |
RGD |
| G |
Tpp1 |
tripeptidyl peptidase I |
|
|
ISS |
1 |
163,490,394 |
163,496,517 |
RGD:704404 |
RGD |
Neuronal intranuclear inclusion disease
|
| G |
Optn |
optineurin |
|
|
ISS |
17 |
84,298,122 |
84,348,330 |
RGD:6480499 |
RGD |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
|
| G |
Hspb8 |
heat shock protein B8 |
|
|
ISS |
12 |
41,407,166 |
41,421,565 |
RGD:7240710 |
OMIM |
Neuronopathy, Distal Hereditary Motor, Type IIB
|
| G |
Hspb1 |
heat shock protein 1 |
|
|
ISS |
12 |
21,911,223 |
21,912,784 |
RGD:7240710 |
OMIM |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
|
| G |
Bscl2 |
Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
|
|
ISS |
1 |
211,509,675 |
211,518,963 |
RGD:7240710 |
OMIM |
| G |
Gars |
glycyl-tRNA synthetase |
|
|
ISS |
4 |
83,718,584 |
83,759,591 |
RGD:7240710 |
OMIM |
| G |
Smad1 |
SMAD family member 1 |
|
|
ISS |
19 |
30,348,886 |
30,409,345 |
RGD:7240710 |
OMIM |
Neuronopathy, Distal Hereditary Motor, Type Viib
|
| G |
Dctn1 |
dynactin 1 |
|
|
ISS |
4 |
117,390,323 |
117,410,119 |
RGD:7240710 |
OMIM |
Neuropathy, hereditary motor and sensory, LOM type
|
| G |
Ndrg1 |
N-myc downstream regulated 1 |
|
|
ISS |
7 |
104,302,038 |
104,344,842 |
RGD:7240710 |
OMIM |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
|
| G |
Sptlc1 |
serine palmitoyltransferase, long chain base subunit 1 |
|
|
ISS |
17 |
17,576,401 |
17,615,246 |
RGD:7240710 |
OMIM |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
|
| G |
Sptlc2 |
serine palmitoyltransferase, long chain base subunit 2 |
|
|
ISS |
6 |
111,546,037 |
111,622,959 |
RGD:7240710 |
OMIM |
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
| G |
Wnk1 |
WNK lysine deficient protein kinase 1 |
|
|
ISS |
4 |
156,297,841 |
156,421,820 |
RGD:7240710 |
OMIM |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
|
| G |
Fam134b |
family with sequence similarity 134, member B |
|
|
ISS |
2 |
77,470,558 |
77,566,123 |
RGD:7240710 |
OMIM |
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
|
| G |
Cct5 |
chaperonin containing Tcp1, subunit 5 (epsilon) |
|
|
ISS |
2 |
83,681,785 |
83,692,937 |
RGD:7240710 |
OMIM |
Opitz-Kaveggia syndrome
|
| G |
Cask |
calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
|
|
ISS |
X |
20,910,960 |
21,250,869 |
RGD:7240710 |
OMIM |
| G |
Med12 |
mediator complex subunit 12 |
|
|
ISS |
X |
89,351,546 |
89,374,489 |
RGD:7240710 |
OMIM |
Optic Atrophies, Hereditary
|
| G |
Cask |
calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
|
|
ISS |
X |
20,910,960 |
21,250,869 |
RGD:734690 |
RGD |
| G |
Crb1 |
crumbs homolog 1 (Drosophila) |
|
|
ISS |
13 |
52,558,317 |
52,725,099 |
RGD:7240710 |
OMIM |
Optic atrophy 1 and deafness
|
| G |
Opa1 |
optic atrophy 1 |
|
|
ISS |
11 |
73,005,470 |
73,058,136 |
RGD:7240710 |
OMIM |
Optic Atrophy 7
|
| G |
Tmem126a |
transmembrane protein 126A |
|
|
ISS |
1 |
147,129,330 |
147,137,259 |
RGD:7240710 |
OMIM |
Optic atrophy and cataract, autosomal dominant
|
| G |
Opa3 |
optic atrophy 3 |
|
|
ISS |
1 |
78,592,874 |
78,611,029 |
RGD:7240710 |
OMIM |
Optic atrophy polyneuropathy deafness
|
| G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
|
ISS |
X |
128,249,843 |
128,271,893 |
RGD:7240710 |
OMIM |
Optic Atrophy, Autosomal Dominant
|
| G |
Opa1 |
optic atrophy 1 |
|
|
ISS |
11 |
73,005,470 |
73,058,136 |
RGD:7240710 |
OMIM |
Optic Atrophy, Hereditary, Leber
|
| G |
Apoa4 |
apolipoprotein A-IV |
|
|
ISS |
8 |
49,233,142 |
49,233,431 |
RGD:5685659 |
RGD |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
Onset |
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:5688732 |
RGD |
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5508187 |
RGD |
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490293 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5508187 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5508689 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5508712 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5508685 |
RGD |
| G |
Mt-nd2 |
mitochondrially encoded NADH dehydrogenase 2 |
|
|
ISS |
MT |
3,904 |
4,942 |
RGD:5508187 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
ISS |
MT |
9,451 |
9,798 |
RGD:5508703 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5508187 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5491183 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5507829 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:1581057 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:1581058 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:1581059 |
RGD |
| G |
Mt-nd4l |
mitochondrially encoded NADH 4L |
|
|
ISS |
MT |
9,870 |
10,166 |
RGD:5686341 |
RGD |
| G |
Mt-nd4l |
mitochondrially encoded NADH 4L |
|
|
ISS |
MT |
9,870 |
10,166 |
RGD:5686339 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491172 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:1581060 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5507826 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491183 |
RGD |
| G |
Mt-nd5 |
mitochondrially encoded NADH dehydrogenase 5 |
|
|
ISS |
MT |
11,736 |
13,565 |
RGD:5491202 |
RGD |
| G |
Mt-nd6 |
mitochondrially encoded NADH dehydrogenase 6 |
|
|
ISS |
MT |
13,543 |
14,061 |
RGD:1581061 |
RGD |
| G |
Rdh12 |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
|
|
ISS |
6 |
101,982,815 |
101,995,737 |
RGD:1599415 |
RGD |
| G |
Rpe65 |
retinal pigment epithelium 65 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Rpgrip1 |
retinitis pigmentosa GTPase regulator interacting protein 1 |
|
|
ISS |
15 |
27,574,762 |
27,582,641 |
RGD:7240710 |
OMIM |
| G |
Rpgrip1 |
retinitis pigmentosa GTPase regulator interacting protein 1 |
|
|
ISS |
15 |
27,574,762 |
27,582,641 |
RGD:1599580 |
RGD |
Pantothenate Kinase-Associated Neurodegeneration
|
| G |
Pank2 |
pantothenate kinase 2 |
|
|
ISS |
3 |
118,970,527 |
119,004,728 |
RGD:7240710 |
OMIM |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480098 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6480098 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6480098 |
RGD |
Parkinson Disease
|
| G |
A2m |
alpha-2-macroglobulin |
|
|
IEA |
4 |
158,103,711 |
158,153,423 |
RGD:1331525 |
RGD |
| G |
Ace |
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 |
|
|
IEA |
10 |
95,361,338 |
95,381,455 |
RGD:1331525 |
RGD |
| G |
Ache |
acetylcholinesterase |
|
|
ISS |
|
|
|
RGD:5509846 |
RGD |
| G |
Adrbk1 |
adrenergic, beta, receptor kinase 1 |
|
|
IEP |
1 |
206,873,002 |
206,892,868 |
RGD:5685370 |
RGD |
| G |
Adrbk2 |
adrenergic, beta, receptor kinase 2 |
|
|
IEP |
|
|
|
RGD:5685370 |
RGD |
| G |
Akt1 |
v-akt murine thymoma viral oncogene homolog 1 |
|
|
ISS |
6 |
137,640,482 |
137,657,552 |
RGD:5509074 |
RGD |
| G |
Akt1 |
v-akt murine thymoma viral oncogene homolog 1 |
|
|
ISS |
6 |
137,640,482 |
137,657,552 |
RGD:5509076 |
RGD |
| G |
Akt1 |
v-akt murine thymoma viral oncogene homolog 1 |
|
No_Association |
ISS |
6 |
137,640,482 |
137,657,552 |
RGD:5509064 |
RGD |
| G |
Ang |
angiogenin, ribonuclease, RNase A family, 5 |
|
|
ISS |
15 |
27,083,089 |
27,083,526 |
RGD:6892707 |
RGD |
| G |
Apoa1 |
apolipoprotein A-I |
|
|
ISS |
|
|
|
RGD:5508216 |
RGD |
| G |
B2m |
beta-2 microglobulin |
|
|
ISS |
3 |
108,927,919 |
108,932,718 |
RGD:6482706 |
RGD |
| G |
Bdnf |
brain-derived neurotrophic factor |
|
|
IEA |
|
|
|
RGD:1331525 |
RGD |
| G |
Bglap |
bone gamma-carboxyglutamate (gla) protein |
|
|
ISS |
2 |
180,482,313 |
180,483,290 |
RGD:7207224 |
RGD |
| G |
Cast |
calpastatin |
|
|
ISS |
2 |
1,495,048 |
1,608,477 |
RGD:5683320 |
RGD |
| G |
Cast |
calpastatin |
|
|
ISS |
2 |
1,495,048 |
1,608,477 |
RGD:5509800 |
RGD |
| G |
Cck |
cholecystokinin |
|
|
ISS |
8 |
126,492,636 |
126,499,220 |
RGD:1626086 |
RGD |
| G |
Cck |
cholecystokinin |
|
No_Association |
ISS |
8 |
126,492,636 |
126,499,220 |
RGD:1625802 |
RGD |
| G |
Cckar |
cholecystokinin A receptor |
|
No_Association |
ISS |
14 |
62,052,510 |
62,057,201 |
RGD:1625802 |
RGD |
| G |
Crh |
corticotropin releasing hormone |
|
|
ISS |
2 |
104,764,023 |
104,765,887 |
RGD:5508835 |
RGD |
| G |
Crp |
C-reactive protein, pentraxin-related |
|
|
ISS |
13 |
88,702,243 |
88,703,153 |
RGD:6482307 |
RGD |
| G |
Ctgf |
connective tissue growth factor |
|
|
IEP |
1 |
21,327,099 |
21,330,215 |
RGD:2314505 |
RGD |
| G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
Susceptibility |
ISS |
8 |
61,462,207 |
61,468,237 |
RGD:5147681 |
RGD |
| G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
No_Association |
ISS |
8 |
61,462,207 |
61,468,237 |
RGD:5147678 |
RGD |
| G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
No_Association |
ISS |
8 |
61,462,207 |
61,468,237 |
RGD:5147679 |
RGD |
| G |
Cyp2d3 |
cytochrome P450, family 2, subfamily d, polypeptide 3 |
|
|
ISS |
7 |
120,778,783 |
120,783,140 |
RGD:7240710 |
OMIM |
| G |
Dbh |
dopamine beta-hydroxylase (dopamine beta-monooxygenase) |
|
|
ISS |
3 |
6,052,706 |
6,069,826 |
RGD:5129515 |
RGD |
| G |
Dbh |
dopamine beta-hydroxylase (dopamine beta-monooxygenase) |
|
Resistance |
ISS |
3 |
6,052,706 |
6,069,826 |
RGD:1358583 |
RGD |
| G |
Ddc |
dopa decarboxylase (aromatic L-amino acid decarboxylase) |
|
|
ISS |
14 |
92,698,636 |
92,788,635 |
RGD:5129121 |
RGD |
| G |
Ddc |
dopa decarboxylase (aromatic L-amino acid decarboxylase) |
|
|
IPM |
14 |
92,698,636 |
92,788,635 |
RGD:4139893 |
RGD |
| G |
Ddc |
dopa decarboxylase (aromatic L-amino acid decarboxylase) |
|
|
IEP |
14 |
92,698,636 |
92,788,635 |
RGD:5129231 |
RGD |
| G |
Dlg1 |
discs, large homolog 1 (Drosophila) |
|
|
IEP |
11 |
70,735,283 |
70,930,374 |
RGD:2306834 |
RGD |
| G |
Dlg4 |
discs, large homolog 4 (Drosophila) |
|
|
IEP |
10 |
56,864,459 |
56,890,626 |
RGD:2306834 |
RGD |
| G |
Drd2 |
dopamine receptor D2 |
|
|
IEP |
8 |
52,641,160 |
52,707,749 |
RGD:2311585 |
RGD |
| G |
Drd3 |
dopamine receptor D3 |
|
|
ISS |
11 |
58,446,901 |
58,520,589 |
RGD:5686418 |
RGD |
| G |
Drd3 |
dopamine receptor D3 |
|
Severity |
ISS |
11 |
58,446,901 |
58,520,589 |
RGD:5686419 |
RGD |
| G |
Drd5 |
dopamine receptor D5 |
|
|
ISS |
14 |
77,768,060 |
77,769,487 |
RGD:5686418 |
RGD |
| G |
Egfr |
epidermal growth factor receptor |
|
|
ISS |
14 |
97,617,358 |
97,788,211 |
RGD:2289955 |
RGD |
| G |
En1 |
engrailed homeobox 1 |
|
|
ISS |
|
|
|
RGD:5687197 |
RGD |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
No_Association |
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:5688390 |
RGD |
| G |
Ephx1 |
epoxide hydrolase 1, microsomal (xenobiotic) |
|
|
ISS |
13 |
96,722,973 |
96,752,940 |
RGD:5490167 |
RGD |
| G |
Ephx2 |
epoxide hydrolase 2, cytoplasmic |
|
No_Association |
ISS |
15 |
45,497,660 |
45,556,101 |
RGD:5688390 |
RGD |
| G |
Erbb2 |
v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) |
|
|
ISS |
10 |
87,219,157 |
87,242,919 |
RGD:2289955 |
RGD |
| G |
Esr2 |
estrogen receptor 2 (ER beta) |
|
Onset |
ISS |
6 |
98,691,167 |
98,775,299 |
RGD:5508776 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508422 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:5508425 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
Onset |
ISS |
|
|
|
RGD:5508427 |
RGD |
| G |
Gba |
glucosidase, beta, acid |
|
No_Association |
ISS |
|
|
|
RGD:5508429 |
RGD |
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:6218968 |
RGD |
| G |
Gdnf |
glial cell derived neurotrophic factor |
|
|
ISS |
2 |
57,399,312 |
57,424,030 |
RGD:704404 |
RGD |
| G |
Grk5 |
G protein-coupled receptor kinase 5 |
|
No_Association |
ISS |
1 |
267,495,534 |
267,693,144 |
RGD:5688382 |
RGD |
| G |
Grk5 |
G protein-coupled receptor kinase 5 |
|
|
ISS |
1 |
267,495,534 |
267,693,144 |
RGD:5688384 |
RGD |
| G |
Grk5 |
G protein-coupled receptor kinase 5 |
|
|
IEP |
1 |
267,495,534 |
267,693,144 |
RGD:5685370 |
RGD |
| G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
|
ISS |
17 |
15,220,992 |
15,236,617 |
RGD:5684916 |
RGD |
| G |
Grk6 |
G protein-coupled receptor kinase 6 |
|
|
IEP |
17 |
15,220,992 |
15,236,617 |
RGD:5685370 |
RGD |
| G |
Gsta4 |
glutathione S-transferase alpha 4 |
|
|
ISS |
8 |
83,165,139 |
83,183,055 |
RGD:5687772 |
RGD |
| G |
Gstm1 |
glutathione S-transferase mu 1 |
|
Onset |
ISS |
2 |
203,575,444 |
203,580,821 |
RGD:5490167 |
RGD |
| G |
Gstm1 |
glutathione S-transferase mu 1 |
|
Susceptibility |
ISS |
2 |
203,575,444 |
203,580,821 |
RGD:5148019 |
RGD |
| G |
Gsto1 |
glutathione S-transferase omega 1 |
|
Susceptibility |
ISS |
1 |
253,228,547 |
253,238,531 |
RGD:5490299 |
RGD |
| G |
Gsto1 |
glutathione S-transferase omega 1 |
|
onset |
ISS |
1 |
253,228,547 |
253,238,531 |
RGD:1358651 |
RGD |
| G |
Gsto2 |
glutathione S-transferase omega 2 |
|
Susceptibility |
ISS |
1 |
253,239,392 |
253,275,110 |
RGD:5490299 |
RGD |
| G |
Gsto2 |
glutathione S-transferase omega 2 |
|
Onset |
ISS |
1 |
253,239,392 |
253,275,110 |
RGD:1358651 |
RGD |
| G |
Gstp1 |
glutathione S-transferase pi 1 |
|
|
ISS |
1 |
206,627,398 |
206,629,866 |
RGD:1358669 |
RGD |
| G |
Gstt1 |
glutathione S-transferase theta 1 |
|
|
ISS |
20 |
13,604,355 |
13,621,456 |
RGD:5490165 |
RGD |
| G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
|
ISS |
2 |
27,127,504 |
27,149,580 |
RGD:5508459 |
RGD |
| G |
Hnmt |
histamine N-methyltransferase |
|
No_Association |
ISS |
3 |
2,057,938 |
2,089,955 |
RGD:5509775 |
RGD |
| G |
Hnmt |
histamine N-methyltransferase |
|
|
ISS |
3 |
2,057,938 |
2,089,955 |
RGD:5509778 |
RGD |
| G |
Hspa4 |
heat shock protein 4 |
|
|
IEP |
10 |
38,705,629 |
38,749,058 |
RGD:5686884 |
RGD |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
ISS |
8 |
43,784,035 |
43,787,760 |
RGD:6218982 |
RGD |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
ISS |
8 |
43,784,035 |
43,787,760 |
RGD:6480203 |
RGD |
| G |
Hspa8 |
heat shock 70kDa protein 8 |
|
|
IEP |
8 |
43,784,035 |
43,787,760 |
RGD:6480228 |
RGD |
| G |
Hspa9 |
heat shock protein 9 |
|
|
ISS |
18 |
27,419,614 |
27,437,031 |
RGD:6784528 |
RGD |
| G |
Hspa9 |
heat shock protein 9 |
|
|
ISS |
18 |
27,419,614 |
27,437,031 |
RGD:6784529 |
RGD |
| G |
Hspa9 |
heat shock protein 9 |
|
Disease_progression |
ISS |
18 |
27,419,614 |
27,437,031 |
RGD:6784530 |
RGD |
| G |
Hspa9 |
heat shock protein 9 |
|
|
ISS |
18 |
27,419,614 |
27,437,031 |
RGD:6784531 |
RGD |
| G |
Htr1a |
5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled |
|
|
IPM |
2 |
36,434,518 |
36,435,786 |
RGD:5683633 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688381 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688392 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688393 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688714 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688395 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688367 |
RGD |
| G |
Htra2 |
HtrA serine peptidase 2 |
|
No_Association |
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:5688394 |
RGD |
| G |
Igf1r |
insulin-like growth factor 1 receptor |
|
|
IPM |
1 |
122,704,976 |
122,990,007 |
RGD:5686429 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
IED |
3 |
116,964,422 |
116,970,867 |
RGD:7175549 |
RGD |
| G |
Il1b |
interleukin 1 beta |
|
|
ISS |
3 |
116,964,422 |
116,970,867 |
RGD:1358742 |
RGD |
| G |
Klk6 |
kallikrein related-peptidase 6 |
|
|
ISS |
1 |
94,254,350 |
94,261,500 |
RGD:1358597 |
RGD |
| G |
L1cam |
L1 cell adhesion molecule |
|
|
ISS |
X |
159,784,792 |
159,801,553 |
RGD:6483033 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508405 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508415 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508416 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508409 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508420 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508399 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
No_Association |
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508406 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508404 |
RGD |
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:5508408 |
RGD |
| G |
Maob |
monoamine oxidase B |
|
|
IEP |
X |
17,553,529 |
17,657,852 |
RGD:2316771 |
RGD |
| G |
Maob |
monoamine oxidase B |
|
|
ISS |
X |
17,553,529 |
17,657,852 |
RGD:1358484 |
RGD |
| G |
Mt-atp6 |
mitochondrially encoded ATP synthase 6 |
|
|
ISS |
MT |
7,919 |
8,599 |
RGD:5490292 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
No_Association |
ISS |
MT |
2,740 |
3,694 |
RGD:5508706 |
RGD |
| G |
Mt-nd1 |
mitochondrially encoded NADH dehydrogenase 1 |
|
|
ISS |
MT |
2,740 |
3,694 |
RGD:5148018 |
RGD |
| G |
Mt-nd2 |
mitochondrially encoded NADH dehydrogenase 2 |
|
|
ISS |
MT |
3,904 |
4,942 |
RGD:2302313 |
RGD |
| G |
Mt-nd2 |
mitochondrially encoded NADH dehydrogenase 2 |
|
|
ISS |
MT |
3,904 |
4,942 |
RGD:5507832 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
ISS |
MT |
9,451 |
9,798 |
RGD:5491206 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
ISS |
MT |
9,451 |
9,798 |
RGD:5687692 |
RGD |
| G |
Mt-nd3 |
mitochondrially encoded NADH dehydrogenase 3 |
|
|
IPM |
MT |
9,451 |
9,798 |
RGD:5687691 |
RGD |
| G |
Mt-nd4 |
mitochondrially encoded NADH dehydrogenase 4 |
|
|
ISS |
MT |
10,160 |
11,537 |
RGD:5507832 |
RGD |
| G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
Susceptibility |
ISS |
17 |
5,086,219 |
5,118,086 |
RGD:5508183 |
RGD |
| G |
Nat2 |
N-acetyltransferase 2 (arylamine N-acetyltransferase) |
|
Susceptibility |
ISS |
16 |
23,855,555 |
23,876,531 |
RGD:2303766 |
RGD |
| G |
Ndufs1 |
NADH dehydrogenase (ubiquinone) Fe-S protein 1 |
|
Onset |
ISS |
9 |
61,798,141 |
61,831,964 |
RGD:6484690 |
RGD |
| G |
Ndufs4 |
NADH dehydrogenase (ubiquinone) Fe-S protein 4 |
|
|
ISS |
2 |
45,839,236 |
46,479,619 |
RGD:6484691 |
RGD |
| G |
Ndufv2 |
NADH dehydrogenase (ubiquinone) flavoprotein 2 |
|
Susceptibility |
ISS |
9 |
104,852,714 |
104,873,325 |
RGD:2302386 |
RGD |
| G |
Nedd8 |
neural precursor cell expressed, developmentally down-regulated 8 |
|
|
ISS |
15 |
33,797,457 |
33,820,624 |
RGD:1549458 |
RGD |
| G |
Nos1 |
nitric oxide synthase 1, neuronal |
|
|
ISS |
12 |
39,812,500 |
39,869,484 |
RGD:5132632 |
RGD |
| G |
Nos1 |
nitric oxide synthase 1, neuronal |
|
|
ISS |
12 |
39,812,500 |
39,869,484 |
RGD:1358519 |
RGD |
| G |
Nos2 |
nitric oxide synthase 2, inducible |
|
|
ISS |
10 |
65,036,884 |
65,072,453 |
RGD:5509573 |
RGD |
| G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
|
|
ISS |
3 |
38,866,205 |
38,871,678 |
RGD:1358553 |
RGD |
| G |
Park2 |
parkinson protein 2, E3 ubiquitin protein ligase |
|
|
ISS |
1 |
43,151,265 |
44,374,470 |
RGD:737763 |
RGD |
| G |
Park2 |
parkinson protein 2, E3 ubiquitin protein ligase |
|
|
NAS |
1 |
43,151,265 |
44,374,470 |
RGD:633597 |
RGD |
| G |
Park7 |
parkinson protein 7 |
|
Onset |
ISS |
5 |
168,050,149 |
168,061,616 |
RGD:1601073 |
RGD |
| G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
Susceptibility |
ISS |
13 |
96,309,670 |
96,341,486 |
RGD:5510024 |
RGD |
| G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
No_Association |
ISS |
13 |
96,309,670 |
96,341,486 |
RGD:5510021 |
RGD |
| G |
Phactr2 |
phosphatase and actin regulator 2 |
|
|
ISS |
1 |
7,988,527 |
8,102,667 |
RGD:6483095 |
RGD |
| G |
Pink1 |
PTEN induced putative kinase 1 |
|
|
ISS |
5 |
157,091,181 |
157,103,293 |
RGD:2290300 |
RGD |
| G |
Pla2g6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
|
No_Association |
ISS |
7 |
117,266,784 |
117,307,172 |
RGD:6482734 |
RGD |
| G |
Pla2g6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
|
Onset |
ISS |
7 |
117,266,784 |
117,307,172 |
RGD:6482733 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
Onset |
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:6484270 |
RGD |
| G |
Ppargc1a |
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
|
|
ISS |
14 |
64,278,115 |
64,370,912 |
RGD:6484271 |
RGD |
| G |
RT1-Da |
RT1 class II, locus Da |
|
Onset |
ISS |
20 |
4,636,310 |
4,641,282 |
RGD:5490158 |
RGD |
| G |
RT1-Da |
RT1 class II, locus Da |
|
|
ISS |
20 |
4,636,310 |
4,641,282 |
RGD:5490156 |
RGD |
| G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
|
ISS |
20 |
4,671,489 |
4,681,058 |
RGD:5147576 |
RGD |
| G |
S100b |
S100 calcium binding protein B |
|
|
ISS |
20 |
12,791,440 |
12,824,508 |
RGD:5508766 |
RGD |
| G |
S100b |
S100 calcium binding protein B |
|
|
ISS |
20 |
12,791,440 |
12,824,508 |
RGD:5508763 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
ISS |
7 |
139,094,505 |
139,127,427 |
RGD:5688403 |
RGD |
| G |
Slc11a2 |
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 |
|
|
ISS |
7 |
139,094,505 |
139,127,427 |
RGD:5688713 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
|
IPM |
1 |
265,789,917 |
265,824,551 |
RGD:5129143 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
|
ISS |
1 |
265,789,917 |
265,824,551 |
RGD:5131163 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
|
IEP |
1 |
265,789,917 |
265,824,551 |
RGD:5131086 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
|
ISS |
1 |
265,789,917 |
265,824,551 |
RGD:5131167 |
RGD |
| G |
Slc18a2 |
solute carrier family 18 (vesicular monoamine), member 2 |
|
Resistance |
ISS |
1 |
265,789,917 |
265,824,551 |
RGD:5131165 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6478794 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480094 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:1302527 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
IED |
4 |
89,613,731 |
89,722,807 |
RGD:730239 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480196 |
RGD |
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:6480197 |
RGD |
| G |
Sncb |
synuclein, beta |
|
Onset |
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6478793 |
RGD |
| G |
Sncb |
synuclein, beta |
|
|
ISS |
17 |
15,907,498 |
15,915,705 |
RGD:6480095 |
RGD |
| G |
Sncg |
synuclein, gamma (breast cancer-specific protein 1) |
|
|
ISS |
16 |
10,025,978 |
10,030,516 |
RGD:6480095 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687172 |
RGD |
| G |
Tardbp |
TAR DNA binding protein |
|
|
ISS |
5 |
165,698,665 |
165,709,531 |
RGD:5687183 |
RGD |
| G |
Tfam |
transcription factor A, mitochondrial |
|
No_Association |
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6771184 |
RGD |
| G |
Tfam |
transcription factor A, mitochondrial |
|
No_Association |
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6771185 |
RGD |
| G |
Tfam |
transcription factor A, mitochondrial |
|
|
ISS |
20 |
18,100,629 |
18,112,682 |
RGD:6767568 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
IPM |
1 |
203,164,253 |
203,171,506 |
RGD:5129120 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
ISS |
1 |
203,164,253 |
203,171,506 |
RGD:5129121 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
ISS |
1 |
203,164,253 |
203,171,506 |
RGD:5128616 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
ISS |
1 |
203,164,253 |
203,171,506 |
RGD:2289955 |
RGD |
| G |
Th |
tyrosine hydroxylase |
|
|
IEP |
1 |
203,164,253 |
203,171,506 |
RGD:5128607 |
RGD |
| G |
Tnfrsf1b |
tumor necrosis factor receptor superfamily, member 1b |
|
|
ISS |
5 |
163,666,541 |
163,697,484 |
RGD:5130931 |
RGD |
| G |
Uchl1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
|
|
ISS |
14 |
44,114,392 |
44,124,947 |
RGD:1302547 |
RGD |
| G |
Uchl1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
|
|
ISS |
14 |
44,114,392 |
44,124,947 |
RGD:7240710 |
OMIM |
| G |
Vip |
vasoactive intestinal peptide |
|
|
ISS |
1 |
36,361,513 |
36,369,594 |
RGD:5685606 |
RGD |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
|
| G |
Snca |
synuclein, alpha (non A4 component of amyloid precursor) |
|
|
ISS |
4 |
89,613,731 |
89,722,807 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
| G |
Htra2 |
HtrA serine peptidase 2 |
|
|
ISS |
4 |
117,262,206 |
117,265,368 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
|
| G |
Pla2g6 |
phospholipase A2, group VI (cytosolic, calcium-independent) |
|
|
ISS |
7 |
117,266,784 |
117,307,172 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
|
| G |
Fbxo7 |
F-box protein 7 |
|
|
ISS |
7 |
19,947,498 |
19,975,730 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
|
| G |
Uchl1 |
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
|
|
ISS |
14 |
44,114,392 |
44,124,947 |
RGD:7240710 |
OMIM |
Parkinson Disease 6, Autosomal Recessive Early-Onset
|
| G |
Pink1 |
PTEN induced putative kinase 1 |
|
|
ISS |
5 |
157,091,181 |
157,103,293 |
RGD:7240710 |
OMIM |
Parkinson Disease 7, Autosomal Recessive Early-Onset
|
| G |
Park7 |
parkinson protein 7 |
|
|
ISS |
5 |
168,050,149 |
168,061,616 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
| G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
|
ISS |
7 |
130,105,902 |
130,267,747 |
RGD:7240710 |
OMIM |
Parkinson disease, juvenile, autosomal recessive
|
| G |
Park2 |
parkinson protein 2, E3 ubiquitin protein ligase |
|
|
ISS |
1 |
43,151,265 |
44,374,470 |
RGD:7240710 |
OMIM |
PARKINSON DISEASE, LATE-ONSET
|
| G |
Adh1 |
alcohol dehydrogenase 1 (class I) |
|
|
ISS |
2 |
235,799,396 |
235,811,584 |
RGD:7240710 |
OMIM |
| G |
Gba |
glucosidase, beta, acid |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Gstp1 |
glutathione S-transferase pi 1 |
|
Susceptibility |
ISS |
1 |
206,627,398 |
206,629,866 |
RGD:5148021 |
RGD |
| G |
Mapt |
microtubule-associated protein tau |
|
|
ISS |
10 |
93,411,098 |
93,508,762 |
RGD:7240710 |
OMIM |
| G |
Tbp |
TATA box binding protein |
|
|
ISS |
1 |
54,390,756 |
54,407,563 |
RGD:7240710 |
OMIM |
Parkinsonism-Dystonia, Infantile
|
| G |
Slc6a3 |
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
|
|
ISS |
1 |
30,516,568 |
30,557,540 |
RGD:7240710 |
OMIM |
Partington X-linked mental retardation syndrome
|
| G |
Arx |
aristaless related homeobox |
|
|
ISS |
X |
80,631,375 |
80,643,989 |
RGD:7240710 |
OMIM |
Pelizaeus-Merzbacher Disease
|
| G |
Lmnb1 |
lamin B1 |
|
|
ISS |
18 |
52,470,605 |
52,508,022 |
RGD:7240710 |
OMIM |
| G |
Plp1 |
proteolipid protein 1 |
|
|
ISS |
X |
124,488,627 |
124,503,639 |
RGD:1358559 |
RGD |
| G |
Plp1 |
proteolipid protein 1 |
|
|
ISS |
X |
124,488,627 |
124,503,639 |
RGD:1358783 |
RGD |
| G |
Plp1 |
proteolipid protein 1 |
|
|
ISS |
X |
124,488,627 |
124,503,639 |
RGD:7240710 |
OMIM |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
| G |
Sox10 |
SRY (sex determining region Y)-box 10 |
|
|
ISS |
7 |
117,138,694 |
117,149,939 |
RGD:7240710 |
OMIM |
Peroxisomal ACYL-COA oxidase deficiency
|
| G |
Acox1 |
acyl-CoA oxidase 1, palmitoyl |
|
|
ISS |
10 |
106,281,977 |
106,319,382 |
RGD:7240710 |
OMIM |
PEROXISOME BIOGENESIS DISORDER 2B
|
| G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
|
ISS |
4 |
27,235,147 |
27,275,076 |
RGD:7240710 |
OMIM |
| G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
|
ISS |
5 |
171,868,928 |
171,874,094 |
RGD:7240710 |
OMIM |
| G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
|
ISS |
14 |
104,550,699 |
104,571,485 |
RGD:7240710 |
OMIM |
| G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
|
ISS |
|
|
|
RGD:7240710 |
OMIM |
| G |
Pex5 |
peroxisomal biogenesis factor 5 |
|
|
ISS |
4 |
160,567,258 |
160,595,985 |
RGD:7240710 |
OMIM |
Phosphoenolpyruvate carboxykinase 2 deficiency
|
| G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
| |